Incidental Mutation 'R6337:Anks1b'
ID |
513760 |
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 |
044491-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6337 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
89709371-90809162 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90757158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 182
(T182S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099364]
[ENSMUST00000099366]
[ENSMUST00000179337]
[ENSMUST00000179694]
[ENSMUST00000182053]
[ENSMUST00000182113]
[ENSMUST00000182192]
[ENSMUST00000182284]
[ENSMUST00000182356]
[ENSMUST00000182427]
[ENSMUST00000182430]
[ENSMUST00000182550]
[ENSMUST00000182595]
[ENSMUST00000182600]
[ENSMUST00000182786]
[ENSMUST00000182960]
[ENSMUST00000182966]
[ENSMUST00000183136]
[ENSMUST00000182202]
[ENSMUST00000182907]
[ENSMUST00000183156]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099364
AA Change: T249S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000096965 Gene: ENSMUSG00000058589 AA Change: T249S
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
PTB
|
131 |
269 |
1.5e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099366
AA Change: T29S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096967 Gene: ENSMUSG00000058589 AA Change: T29S
Domain | Start | End | E-Value | Type |
PTB
|
63 |
201 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179337
AA Change: T29S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136410 Gene: ENSMUSG00000058589 AA Change: T29S
Domain | Start | End | E-Value | Type |
low complexity region
|
43 |
58 |
N/A |
INTRINSIC |
PTB
|
156 |
294 |
1.6e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179694
AA Change: T29S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136146 Gene: ENSMUSG00000058589 AA Change: T29S
Domain | Start | End | E-Value | Type |
PTB
|
96 |
234 |
1.5e-40 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182053
AA Change: T158S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138644 Gene: ENSMUSG00000058589 AA Change: T158S
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 benign
Transcript: ENSMUST00000182113
AA Change: T273S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138655 Gene: ENSMUSG00000058589 AA Change: T273S
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: ENSMUST00000182192
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182284
AA Change: T214S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138794 Gene: ENSMUSG00000058589 AA Change: T214S
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 benign
Transcript: ENSMUST00000182356
AA Change: T192S
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138234 Gene: ENSMUSG00000058589 AA Change: T192S
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 benign
Transcript: ENSMUST00000182427
AA Change: T218S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000138480 Gene: ENSMUSG00000058589 AA Change: T218S
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: ENSMUST00000182430
AA Change: T189S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000138660 Gene: ENSMUSG00000058589 AA Change: T189S
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 benign
Transcript: ENSMUST00000182550
AA Change: T274S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000138643 Gene: ENSMUSG00000058589 AA Change: T274S
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 benign
Transcript: ENSMUST00000182595
AA Change: T249S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138314 Gene: ENSMUSG00000058589 AA Change: T249S
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 benign
Transcript: ENSMUST00000182600
AA Change: T182S
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138650 Gene: ENSMUSG00000058589 AA Change: T182S
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 benign
Transcript: ENSMUST00000182786
AA Change: T121S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000138720 Gene: ENSMUSG00000058589 AA Change: T121S
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: ENSMUST00000182960
AA Change: T213S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000138222 Gene: ENSMUSG00000058589 AA Change: T213S
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 benign
Transcript: ENSMUST00000182966
AA Change: T54S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138610 Gene: ENSMUSG00000058589 AA Change: T54S
Domain | Start | End | E-Value | Type |
PTB
|
88 |
226 |
2.94e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183136
AA Change: T273S
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000138738 Gene: ENSMUSG00000058589 AA Change: T273S
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: ENSMUST00000182202
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183024
|
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 benign
Transcript: ENSMUST00000183156
AA Change: T1022S
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000138539 Gene: ENSMUSG00000058589 AA Change: T1022S
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
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (61/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
T |
G |
3: 89,969,040 (GRCm39) |
V221G |
probably benign |
Het |
Abca12 |
G |
A |
1: 71,334,172 (GRCm39) |
A1110V |
probably damaging |
Het |
Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
Acsm5 |
G |
A |
7: 119,133,458 (GRCm39) |
A208T |
probably benign |
Het |
Adcyap1 |
T |
A |
17: 93,509,709 (GRCm39) |
Y53* |
probably null |
Het |
Adgrg7 |
T |
A |
16: 56,572,788 (GRCm39) |
I343F |
probably damaging |
Het |
Agl |
T |
A |
3: 116,580,426 (GRCm39) |
K376M |
possibly damaging |
Het |
Akna |
A |
G |
4: 63,292,240 (GRCm39) |
Y1142H |
probably benign |
Het |
Apol7e |
T |
A |
15: 77,598,582 (GRCm39) |
Y16N |
possibly damaging |
Het |
Bptf |
G |
T |
11: 106,949,605 (GRCm39) |
T2238K |
possibly damaging |
Het |
Ccdc87 |
A |
G |
19: 4,889,829 (GRCm39) |
E107G |
probably benign |
Het |
Ccng2 |
C |
T |
5: 93,418,780 (GRCm39) |
A135V |
probably benign |
Het |
Chd8 |
C |
A |
14: 52,441,566 (GRCm39) |
R842L |
probably damaging |
Het |
Cldn18 |
T |
A |
9: 99,591,995 (GRCm39) |
T3S |
probably benign |
Het |
Dhcr7 |
T |
C |
7: 143,390,468 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dusp26 |
T |
C |
8: 31,586,325 (GRCm39) |
V182A |
probably damaging |
Het |
Eif3e |
T |
C |
15: 43,115,692 (GRCm39) |
D358G |
possibly damaging |
Het |
Epha3 |
A |
T |
16: 63,388,806 (GRCm39) |
L814H |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,454,318 (GRCm39) |
N1877S |
probably damaging |
Het |
Fpgs |
A |
T |
2: 32,577,953 (GRCm39) |
Y156* |
probably null |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm5591 |
T |
C |
7: 38,221,319 (GRCm39) |
D250G |
probably benign |
Het |
Gtf2e2 |
C |
T |
8: 34,266,043 (GRCm39) |
R240* |
probably null |
Het |
Hells |
G |
T |
19: 38,943,254 (GRCm39) |
Q519H |
probably benign |
Het |
Hscb |
A |
G |
5: 110,987,360 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
A |
11: 75,537,640 (GRCm39) |
I350N |
probably damaging |
Het |
Irf9 |
G |
A |
14: 55,843,799 (GRCm39) |
V221I |
possibly damaging |
Het |
Itga8 |
A |
T |
2: 12,258,280 (GRCm39) |
Y261* |
probably null |
Het |
Itprid2 |
G |
A |
2: 79,485,463 (GRCm39) |
D506N |
probably damaging |
Het |
Lama1 |
C |
T |
17: 68,093,014 (GRCm39) |
T1684M |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,268,811 (GRCm39) |
H4157Q |
probably damaging |
Het |
Nceh1 |
G |
T |
3: 27,276,956 (GRCm39) |
R93L |
probably damaging |
Het |
Nell2 |
A |
G |
15: 95,283,025 (GRCm39) |
F339S |
probably damaging |
Het |
Or2t49 |
A |
T |
11: 58,392,838 (GRCm39) |
C181* |
probably null |
Het |
Phf11a |
C |
A |
14: 59,521,817 (GRCm39) |
C118F |
probably damaging |
Het |
Purg |
A |
G |
8: 33,876,451 (GRCm39) |
K30E |
possibly damaging |
Het |
Qprt |
C |
T |
7: 126,708,101 (GRCm39) |
R110H |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
Serpina3a |
T |
C |
12: 104,079,137 (GRCm39) |
F10L |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,121,298 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
T |
A |
5: 89,194,231 (GRCm39) |
M237K |
probably benign |
Het |
Slitrk5 |
A |
T |
14: 111,917,684 (GRCm39) |
D436V |
probably damaging |
Het |
Snd1 |
T |
C |
6: 28,888,288 (GRCm39) |
Y908H |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,132,562 (GRCm39) |
V1132A |
probably benign |
Het |
Speer3 |
A |
G |
5: 13,843,369 (GRCm39) |
E92G |
probably damaging |
Het |
Strada |
T |
C |
11: 106,064,143 (GRCm39) |
E58G |
possibly damaging |
Het |
Tbx10 |
A |
T |
19: 4,047,312 (GRCm39) |
K139* |
probably null |
Het |
Tcf4 |
T |
C |
18: 69,766,651 (GRCm39) |
Y25H |
probably damaging |
Het |
Tmem108 |
C |
T |
9: 103,376,960 (GRCm39) |
R163H |
possibly damaging |
Het |
Top2b |
A |
G |
14: 16,399,026 (GRCm38) |
T549A |
possibly damaging |
Het |
Tpcn2 |
A |
G |
7: 144,833,080 (GRCm39) |
I46T |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vipr2 |
T |
A |
12: 116,086,363 (GRCm39) |
Y129* |
probably null |
Het |
Vps37a |
A |
T |
8: 40,993,749 (GRCm39) |
Q248L |
probably benign |
Het |
Wrap53 |
T |
C |
11: 69,468,511 (GRCm39) |
I179V |
probably benign |
Het |
Zan |
G |
A |
5: 137,450,750 (GRCm39) |
A1609V |
unknown |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
Zbtb5 |
G |
A |
4: 44,993,459 (GRCm39) |
R642W |
probably damaging |
Het |
Zfyve27 |
A |
G |
19: 42,171,096 (GRCm39) |
|
probably null |
Het |
Zup1 |
T |
C |
10: 33,825,252 (GRCm39) |
N77D |
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 |
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 |
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'- TGACTTCTTCATACTCAGCTTTAGG -3'
(R):5'- TGAATGCAGACTAACCAGGGAATAC -3'
Sequencing Primer
(F):5'- TCAGCTTTAGGAAAACACAATGCTC -3'
(R):5'- GGAATACATCCTCTGTCCCAACTTG -3'
|
Posted On |
2018-04-27 |