Incidental Mutation 'R1056:Anks1b'
| ID |
94387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks1b
|
| Ensembl Gene |
ENSMUSG00000058589 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 1B |
| Synonyms |
C030032C09Rik, Gm10937, AIDA-1b, LOC380650, E530015N03Rik |
| MMRRC Submission |
039146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 90757291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099364]
[ENSMUST00000099364]
[ENSMUST00000099366]
[ENSMUST00000099366]
[ENSMUST00000179337]
[ENSMUST00000179337]
[ENSMUST00000179694]
[ENSMUST00000179694]
[ENSMUST00000182053]
[ENSMUST00000182053]
[ENSMUST00000182113]
[ENSMUST00000182113]
[ENSMUST00000182192]
[ENSMUST00000182192]
[ENSMUST00000182202]
[ENSMUST00000182202]
[ENSMUST00000182284]
[ENSMUST00000182284]
[ENSMUST00000182356]
[ENSMUST00000182356]
[ENSMUST00000182430]
[ENSMUST00000182430]
[ENSMUST00000182550]
[ENSMUST00000182550]
[ENSMUST00000182595]
[ENSMUST00000182595]
[ENSMUST00000182600]
[ENSMUST00000182600]
[ENSMUST00000182786]
[ENSMUST00000182786]
[ENSMUST00000182907]
[ENSMUST00000182960]
[ENSMUST00000182960]
[ENSMUST00000182966]
[ENSMUST00000182966]
[ENSMUST00000183136]
[ENSMUST00000183136]
[ENSMUST00000182427]
[ENSMUST00000183156]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099364
|
| SMART Domains |
Protein: ENSMUSP00000096965
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
PTB
|
131 |
269 |
1.5e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099364
|
| SMART Domains |
Protein: ENSMUSP00000096965
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
PTB
|
131 |
269 |
1.5e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099366
|
| SMART Domains |
Protein: ENSMUSP00000096967
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
63 |
201 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099366
|
| SMART Domains |
Protein: ENSMUSP00000096967
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
63 |
201 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179337
|
| SMART Domains |
Protein: ENSMUSP00000136410
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
PTB
|
156 |
294 |
1.6e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179337
|
| SMART Domains |
Protein: ENSMUSP00000136410
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
|
PTB
|
156 |
294 |
1.6e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179694
|
| SMART Domains |
Protein: ENSMUSP00000136146
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
96 |
234 |
1.5e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000179694
|
| SMART Domains |
Protein: ENSMUSP00000136146
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
96 |
234 |
1.5e-40 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182053
|
| SMART Domains |
Protein: ENSMUSP00000138644
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
2 |
71 |
1.19e-19 |
SMART |
|
SAM
|
76 |
144 |
5.66e-17 |
SMART |
|
PTB
|
192 |
330 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182053
|
| SMART Domains |
Protein: ENSMUSP00000138644
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
2 |
71 |
1.19e-19 |
SMART |
|
SAM
|
76 |
144 |
5.66e-17 |
SMART |
|
PTB
|
192 |
330 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182113
|
| SMART Domains |
Protein: ENSMUSP00000138655
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182113
|
| SMART Domains |
Protein: ENSMUSP00000138655
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182192
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182192
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182202
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182202
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182284
|
| SMART Domains |
Protein: ENSMUSP00000138794
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
248 |
386 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182284
|
| SMART Domains |
Protein: ENSMUSP00000138794
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
248 |
386 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182356
|
| SMART Domains |
Protein: ENSMUSP00000138234
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
PTB
|
226 |
364 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182356
|
| SMART Domains |
Protein: ENSMUSP00000138234
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
PTB
|
226 |
364 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182430
|
| SMART Domains |
Protein: ENSMUSP00000138660
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
223 |
361 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182430
|
| SMART Domains |
Protein: ENSMUSP00000138660
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
223 |
361 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182550
|
| SMART Domains |
Protein: ENSMUSP00000138643
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
308 |
446 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182550
|
| SMART Domains |
Protein: ENSMUSP00000138643
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
308 |
446 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182595
|
| SMART Domains |
Protein: ENSMUSP00000138314
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
283 |
421 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182595
|
| SMART Domains |
Protein: ENSMUSP00000138314
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
283 |
421 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182600
|
| SMART Domains |
Protein: ENSMUSP00000138650
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
PTB
|
216 |
354 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182600
|
| SMART Domains |
Protein: ENSMUSP00000138650
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
1 |
45 |
4.05e1 |
SMART |
|
SAM
|
50 |
118 |
5.66e-17 |
SMART |
|
PTB
|
216 |
354 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182786
|
| SMART Domains |
Protein: ENSMUSP00000138720
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
1 |
42 |
8.4e-8 |
PFAM |
|
Pfam:SAM_1
|
2 |
43 |
5.4e-7 |
PFAM |
|
Pfam:SAM_1
|
51 |
97 |
4.4e-10 |
PFAM |
|
Pfam:SAM_2
|
52 |
95 |
6.1e-7 |
PFAM |
|
PTB
|
155 |
293 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182786
|
| SMART Domains |
Protein: ENSMUSP00000138720
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
1 |
42 |
8.4e-8 |
PFAM |
|
Pfam:SAM_1
|
2 |
43 |
5.4e-7 |
PFAM |
|
Pfam:SAM_1
|
51 |
97 |
4.4e-10 |
PFAM |
|
Pfam:SAM_2
|
52 |
95 |
6.1e-7 |
PFAM |
|
PTB
|
155 |
293 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182907
|
| SMART Domains |
Protein: ENSMUSP00000138614
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182960
|
| SMART Domains |
Protein: ENSMUSP00000138222
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
247 |
385 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182960
|
| SMART Domains |
Protein: ENSMUSP00000138222
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
PTB
|
247 |
385 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182966
|
| SMART Domains |
Protein: ENSMUSP00000138610
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
88 |
226 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182966
|
| SMART Domains |
Protein: ENSMUSP00000138610
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
88 |
226 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183136
|
| SMART Domains |
Protein: ENSMUSP00000138738
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183136
|
| SMART Domains |
Protein: ENSMUSP00000138738
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
33 |
102 |
1.19e-19 |
SMART |
|
SAM
|
107 |
175 |
5.66e-17 |
SMART |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
PTB
|
307 |
445 |
2.94e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182427
|
| SMART Domains |
Protein: ENSMUSP00000138480
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
2 |
71 |
1.19e-19 |
SMART |
|
SAM
|
76 |
144 |
5.66e-17 |
SMART |
|
low complexity region
|
164 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183024
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183156
|
| SMART Domains |
Protein: ENSMUSP00000138539
Gene: ENSMUSG00000058589
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
46 |
N/A |
INTRINSIC |
|
ANK
|
58 |
87 |
1.88e-5 |
SMART |
|
ANK
|
91 |
123 |
3.13e-2 |
SMART |
|
ANK
|
127 |
156 |
6.92e-4 |
SMART |
|
ANK
|
160 |
189 |
3.08e-1 |
SMART |
|
ANK
|
193 |
222 |
1.43e-5 |
SMART |
|
ANK
|
225 |
254 |
4.75e-2 |
SMART |
|
low complexity region
|
498 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
670 |
N/A |
INTRINSIC |
|
SAM
|
806 |
875 |
2.06e-19 |
SMART |
|
SAM
|
880 |
948 |
5.66e-17 |
SMART |
|
low complexity region
|
968 |
983 |
N/A |
INTRINSIC |
|
PTB
|
1056 |
1194 |
2.94e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183145
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons alters hippocampal synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,924,295 (GRCm39) |
Y1649C |
probably damaging |
Het |
| Abcc10 |
A |
C |
17: 46,614,880 (GRCm39) |
C1459W |
possibly damaging |
Het |
| Amfr |
A |
T |
8: 94,712,097 (GRCm39) |
F278I |
probably benign |
Het |
| Bak1 |
A |
G |
17: 27,240,247 (GRCm39) |
S147P |
possibly damaging |
Het |
| Bltp1 |
C |
A |
3: 37,037,602 (GRCm39) |
H2469N |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,098,829 (GRCm39) |
M1152K |
probably benign |
Het |
| C7 |
T |
C |
15: 5,075,260 (GRCm39) |
N144S |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,641,967 (GRCm39) |
V748A |
probably benign |
Het |
| Ccdc168 |
C |
T |
1: 44,100,087 (GRCm39) |
G337D |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,916,375 (GRCm39) |
S859P |
probably benign |
Het |
| Ccne2 |
T |
C |
4: 11,192,707 (GRCm39) |
S2P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,364,051 (GRCm39) |
I541N |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,633,177 (GRCm39) |
N58I |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,822,402 (GRCm39) |
S832P |
possibly damaging |
Het |
| Chl1 |
A |
T |
6: 103,652,038 (GRCm39) |
Y318F |
possibly damaging |
Het |
| Coq2 |
G |
T |
5: 100,805,813 (GRCm39) |
N274K |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,077,720 (GRCm39) |
V214E |
probably damaging |
Het |
| Dgkg |
G |
C |
16: 22,419,291 (GRCm39) |
P70A |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,147,731 (GRCm39) |
I966M |
probably benign |
Het |
| Eif5b |
C |
G |
1: 38,061,248 (GRCm39) |
R380G |
unknown |
Het |
| Fat4 |
T |
A |
3: 38,945,541 (GRCm39) |
I1478N |
probably damaging |
Het |
| Impact |
A |
T |
18: 13,109,581 (GRCm39) |
I92L |
probably benign |
Het |
| Ly6c2 |
A |
G |
15: 74,983,445 (GRCm39) |
|
probably null |
Het |
| Lypd6b |
G |
A |
2: 49,837,468 (GRCm39) |
V147I |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,769,894 (GRCm39) |
D192G |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,586,344 (GRCm39) |
|
probably null |
Het |
| Myo9a |
C |
T |
9: 59,739,484 (GRCm39) |
T732I |
possibly damaging |
Het |
| Myrf |
C |
T |
19: 10,200,850 (GRCm39) |
M274I |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 41,003,057 (GRCm39) |
R686Q |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oog4 |
T |
C |
4: 143,164,581 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or1a1b |
C |
T |
11: 74,097,608 (GRCm39) |
V145I |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,625 (GRCm39) |
E233D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,069 (GRCm39) |
K790* |
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,774,937 (GRCm39) |
E1668G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,360 (GRCm39) |
N4040K |
probably damaging |
Het |
| Podnl1 |
T |
A |
8: 84,855,905 (GRCm39) |
S222T |
probably benign |
Het |
| Ppil4 |
A |
G |
10: 7,675,396 (GRCm39) |
T182A |
possibly damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,544 (GRCm39) |
K649E |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,786,663 (GRCm39) |
H530Q |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,211,442 (GRCm39) |
M404K |
probably damaging |
Het |
| Rilpl1 |
A |
T |
5: 124,631,900 (GRCm39) |
F149I |
probably damaging |
Het |
| Sema6c |
T |
A |
3: 95,078,527 (GRCm39) |
S543T |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,842,904 (GRCm39) |
W290L |
probably damaging |
Het |
| Slc2a12 |
T |
G |
10: 22,541,350 (GRCm39) |
S402A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,934,030 (GRCm39) |
I260F |
possibly damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,684 (GRCm39) |
I113T |
possibly damaging |
Het |
| Tnrc18 |
G |
A |
5: 142,759,614 (GRCm39) |
R741* |
probably null |
Het |
| Ube2o |
G |
T |
11: 116,437,290 (GRCm39) |
D244E |
probably damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,784 (GRCm39) |
M141K |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,760 (GRCm39) |
S137P |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,151 (GRCm39) |
H138Q |
possibly damaging |
Het |
|
| Other mutations in Anks1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01669:Anks1b
|
APN |
10 |
90,733,100 (GRCm39) |
splice site |
probably benign |
|
|
IGL01890:Anks1b
|
APN |
10 |
90,480,389 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01966:Anks1b
|
APN |
10 |
90,730,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Anks1b
|
APN |
10 |
89,878,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02205:Anks1b
|
APN |
10 |
89,906,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02465:Anks1b
|
APN |
10 |
89,999,127 (GRCm39) |
nonsense |
probably null |
|
|
IGL02534:Anks1b
|
APN |
10 |
90,730,979 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02554:Anks1b
|
APN |
10 |
90,757,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Anks1b
|
APN |
10 |
89,912,921 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03164:Anks1b
|
APN |
10 |
89,878,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Anks1b
|
UTSW |
10 |
89,909,924 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0096:Anks1b
|
UTSW |
10 |
89,909,924 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0482:Anks1b
|
UTSW |
10 |
90,195,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0542:Anks1b
|
UTSW |
10 |
89,909,829 (GRCm39) |
splice site |
probably benign |
|
|
R0848:Anks1b
|
UTSW |
10 |
89,906,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1398:Anks1b
|
UTSW |
10 |
89,885,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Anks1b
|
UTSW |
10 |
90,346,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1548:Anks1b
|
UTSW |
10 |
89,885,847 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1551:Anks1b
|
UTSW |
10 |
89,912,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1607:Anks1b
|
UTSW |
10 |
89,878,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1667:Anks1b
|
UTSW |
10 |
90,347,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1701:Anks1b
|
UTSW |
10 |
89,885,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Anks1b
|
UTSW |
10 |
90,348,751 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1899:Anks1b
|
UTSW |
10 |
90,096,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Anks1b
|
UTSW |
10 |
89,885,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Anks1b
|
UTSW |
10 |
90,805,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2279:Anks1b
|
UTSW |
10 |
89,885,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Anks1b
|
UTSW |
10 |
90,802,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Anks1b
|
UTSW |
10 |
89,912,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Anks1b
|
UTSW |
10 |
89,869,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Anks1b
|
UTSW |
10 |
90,143,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4459:Anks1b
|
UTSW |
10 |
90,346,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4479:Anks1b
|
UTSW |
10 |
89,885,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Anks1b
|
UTSW |
10 |
90,346,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4511:Anks1b
|
UTSW |
10 |
90,346,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4780:Anks1b
|
UTSW |
10 |
89,709,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Anks1b
|
UTSW |
10 |
90,750,612 (GRCm39) |
missense |
probably null |
0.88 |
|
R4790:Anks1b
|
UTSW |
10 |
89,999,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5012:Anks1b
|
UTSW |
10 |
90,194,999 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5400:Anks1b
|
UTSW |
10 |
90,348,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Anks1b
|
UTSW |
10 |
89,912,926 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5687:Anks1b
|
UTSW |
10 |
90,750,573 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5899:Anks1b
|
UTSW |
10 |
90,759,379 (GRCm39) |
splice site |
probably null |
|
|
R5917:Anks1b
|
UTSW |
10 |
90,412,803 (GRCm39) |
intron |
probably benign |
|
|
R5999:Anks1b
|
UTSW |
10 |
90,194,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Anks1b
|
UTSW |
10 |
90,802,211 (GRCm39) |
nonsense |
probably null |
|
|
R6216:Anks1b
|
UTSW |
10 |
90,096,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Anks1b
|
UTSW |
10 |
90,777,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Anks1b
|
UTSW |
10 |
90,516,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Anks1b
|
UTSW |
10 |
90,757,158 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6522:Anks1b
|
UTSW |
10 |
90,733,189 (GRCm39) |
intron |
probably benign |
|
|
R6843:Anks1b
|
UTSW |
10 |
90,784,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Anks1b
|
UTSW |
10 |
90,096,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Anks1b
|
UTSW |
10 |
89,905,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7114:Anks1b
|
UTSW |
10 |
90,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Anks1b
|
UTSW |
10 |
90,346,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7241:Anks1b
|
UTSW |
10 |
90,348,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Anks1b
|
UTSW |
10 |
90,348,732 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7325:Anks1b
|
UTSW |
10 |
90,777,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Anks1b
|
UTSW |
10 |
90,516,648 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7578:Anks1b
|
UTSW |
10 |
89,885,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Anks1b
|
UTSW |
10 |
90,096,708 (GRCm39) |
splice site |
probably null |
|
|
R7633:Anks1b
|
UTSW |
10 |
90,784,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7881:Anks1b
|
UTSW |
10 |
90,802,880 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7910:Anks1b
|
UTSW |
10 |
90,516,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Anks1b
|
UTSW |
10 |
90,413,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8045:Anks1b
|
UTSW |
10 |
90,516,722 (GRCm39) |
missense |
probably benign |
|
|
R8146:Anks1b
|
UTSW |
10 |
90,143,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Anks1b
|
UTSW |
10 |
89,905,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Anks1b
|
UTSW |
10 |
90,784,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8681:Anks1b
|
UTSW |
10 |
89,885,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9300:Anks1b
|
UTSW |
10 |
90,412,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9469:Anks1b
|
UTSW |
10 |
90,733,205 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9541:Anks1b
|
UTSW |
10 |
90,412,947 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9550:Anks1b
|
UTSW |
10 |
90,412,360 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9653:Anks1b
|
UTSW |
10 |
90,346,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF004:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF017:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF023:Anks1b
|
UTSW |
10 |
89,869,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Anks1b
|
UTSW |
10 |
90,348,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTGTGCTAGGTAAACCCAGG -3'
(R):5'- CAGGGCACAGGAATACTAGGCAATC -3'
Sequencing Primer
(F):5'- GAATGAACCCGCTTACTGCTTG -3'
(R):5'- tggggaggcagaggcag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation