Incidental Mutation 'R5899:Anks1b'
ID |
457740 |
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 |
044098-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 90759379 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]
[ENSMUST00000182427]
[ENSMUST00000182966]
[ENSMUST00000182966]
[ENSMUST00000183136]
[ENSMUST00000183136]
[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: 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 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 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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183024
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
93% (56/60) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
T |
C |
10: 20,876,465 (GRCm39) |
I792T |
probably benign |
Het |
Ano3 |
T |
G |
2: 110,693,232 (GRCm39) |
D122A |
probably benign |
Het |
Atp12a |
T |
C |
14: 56,610,801 (GRCm39) |
V315A |
probably benign |
Het |
B230104I21Rik |
G |
T |
4: 154,433,986 (GRCm39) |
G57* |
probably null |
Het |
Bpifb2 |
A |
G |
2: 153,733,050 (GRCm39) |
K378E |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,830 (GRCm39) |
|
probably benign |
Het |
Ceacam23 |
A |
G |
7: 17,651,369 (GRCm39) |
D840G |
possibly damaging |
Het |
Cflar |
A |
G |
1: 58,791,927 (GRCm39) |
D410G |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,102,049 (GRCm39) |
V345A |
probably benign |
Het |
Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
Ddx50 |
T |
A |
10: 62,476,596 (GRCm39) |
K226* |
probably null |
Het |
Dnah5 |
T |
C |
15: 28,448,513 (GRCm39) |
V4192A |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,875,659 (GRCm39) |
D494N |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,879,660 (GRCm39) |
C965S |
probably benign |
Het |
Dst |
C |
T |
1: 34,334,370 (GRCm39) |
A5083V |
probably damaging |
Het |
E130208F15Rik |
T |
C |
7: 30,021,726 (GRCm39) |
Q10R |
probably damaging |
Het |
Fbxw15 |
T |
C |
9: 109,384,741 (GRCm39) |
|
probably null |
Het |
Fxr2 |
A |
G |
11: 69,543,511 (GRCm39) |
N671D |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,252,303 (GRCm39) |
T629A |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,092 (GRCm39) |
Y1072C |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,244,685 (GRCm39) |
E714V |
possibly damaging |
Het |
Hsd17b13 |
T |
A |
5: 104,113,730 (GRCm39) |
E205D |
probably benign |
Het |
Igf2bp3 |
A |
G |
6: 49,094,084 (GRCm39) |
|
probably benign |
Het |
Il2ra |
A |
G |
2: 11,689,248 (GRCm39) |
H259R |
probably benign |
Het |
Klk15 |
G |
T |
7: 43,588,247 (GRCm39) |
R185L |
probably benign |
Het |
Map3k11 |
T |
G |
19: 5,745,937 (GRCm39) |
|
probably null |
Het |
Morn3 |
A |
G |
5: 123,179,166 (GRCm39) |
W95R |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,364,328 (GRCm39) |
|
probably null |
Het |
Nrap |
A |
T |
19: 56,329,006 (GRCm39) |
V1145D |
possibly damaging |
Het |
Or1e35 |
A |
G |
11: 73,797,755 (GRCm39) |
S188P |
probably damaging |
Het |
Or2l13b |
C |
T |
16: 19,349,551 (GRCm39) |
G40R |
probably damaging |
Het |
Or9k2 |
T |
A |
10: 129,998,542 (GRCm39) |
I218F |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,093,198 (GRCm39) |
N492S |
possibly damaging |
Het |
Ptgfr |
C |
T |
3: 151,540,738 (GRCm39) |
V257I |
probably damaging |
Het |
Racgap1 |
T |
C |
15: 99,521,509 (GRCm39) |
E549G |
possibly damaging |
Het |
Rfx3 |
T |
C |
19: 27,808,165 (GRCm39) |
T193A |
probably damaging |
Het |
Rplp0 |
T |
A |
5: 115,699,489 (GRCm39) |
I149N |
probably benign |
Het |
Samd7 |
T |
G |
3: 30,810,883 (GRCm39) |
I300S |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,825,402 (GRCm39) |
|
probably null |
Het |
Senp6 |
T |
C |
9: 80,049,352 (GRCm39) |
|
probably benign |
Het |
Serpinb2 |
G |
T |
1: 107,447,446 (GRCm39) |
G78V |
probably damaging |
Het |
Sesn1 |
T |
C |
10: 41,687,189 (GRCm39) |
S58P |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,938 (GRCm39) |
|
probably null |
Het |
Spg11 |
T |
C |
2: 121,928,680 (GRCm39) |
D591G |
possibly damaging |
Het |
Spire2 |
A |
C |
8: 124,080,833 (GRCm39) |
S26R |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,956,957 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,697,519 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,924 (GRCm39) |
Y750C |
probably damaging |
Het |
Wnt11 |
T |
A |
7: 98,488,383 (GRCm39) |
Y23* |
probably null |
Het |
Zbp1 |
T |
A |
2: 173,052,340 (GRCm39) |
D272V |
probably benign |
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 |
R1056:Anks1b
|
UTSW |
10 |
90,757,291 (GRCm39) |
splice site |
probably null |
|
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 |
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'- GCTCTCTGAAGTCATGGCTC -3'
(R):5'- GCCAGATGAACCCAAGCATAGG -3'
Sequencing Primer
(F):5'- CTGAAGTCATGGCTCACTTTG -3'
(R):5'- TGTAACGCCGATGTGATCAAC -3'
|
Posted On |
2017-02-15 |