Incidental Mutation 'IGL03057:Abi3bp'
| ID |
409266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abi3bp
|
| Ensembl Gene |
ENSMUSG00000035258 |
| Gene Name |
ABI family member 3 binding protein |
| Synonyms |
D930038M13Rik, TARSH, 5033411B22Rik, eratin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL03057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56488754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1295
(A1295V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048471]
[ENSMUST00000096012]
[ENSMUST00000096013]
[ENSMUST00000171000]
[ENSMUST00000231781]
[ENSMUST00000231832]
[ENSMUST00000231870]
|
| AlphaFold |
A0A338P6S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048471
AA Change: A837V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: A837V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
FN3
|
941 |
1024 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096012
AA Change: A737V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: A737V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
664 |
N/A |
INTRINSIC |
|
FN3
|
841 |
924 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096013
AA Change: A773V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: A773V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
|
FN3
|
877 |
960 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171000
AA Change: A567V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: A567V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
FN3
|
671 |
754 |
6.29e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231781
AA Change: A1295V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231832
AA Change: A542V
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
AA Change: A757V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,106,602 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,851,493 (GRCm39) |
Y901N |
probably damaging |
Het |
| Bud31 |
A |
G |
5: 145,083,378 (GRCm39) |
T74A |
probably benign |
Het |
| C4b |
C |
A |
17: 34,956,738 (GRCm39) |
|
probably benign |
Het |
| Ccdc92 |
G |
A |
5: 124,912,753 (GRCm39) |
Q259* |
probably null |
Het |
| Ccn4 |
T |
C |
15: 66,763,489 (GRCm39) |
|
probably benign |
Het |
| Chfr |
C |
A |
5: 110,291,475 (GRCm39) |
Q98K |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,338,823 (GRCm39) |
|
probably benign |
Het |
| Cnbd2 |
A |
T |
2: 156,209,592 (GRCm39) |
I512F |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,557,726 (GRCm39) |
Y346C |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,109 (GRCm39) |
L570P |
probably damaging |
Het |
| Cylc1 |
G |
A |
X: 110,166,370 (GRCm39) |
G217D |
unknown |
Het |
| Dennd2a |
T |
C |
6: 39,485,182 (GRCm39) |
I366V |
probably damaging |
Het |
| Dis3 |
A |
T |
14: 99,327,426 (GRCm39) |
M359K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,545,088 (GRCm39) |
N848S |
probably damaging |
Het |
| Dyrk3 |
C |
T |
1: 131,056,815 (GRCm39) |
V453I |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,206,161 (GRCm39) |
E358G |
probably damaging |
Het |
| Fam167b |
C |
A |
4: 129,471,960 (GRCm39) |
C70F |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,618,734 (GRCm39) |
Y200* |
probably null |
Het |
| Garin4 |
A |
T |
1: 190,895,141 (GRCm39) |
S501T |
probably benign |
Het |
| Ggh |
T |
C |
4: 20,065,770 (GRCm39) |
V288A |
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,717,586 (GRCm39) |
|
probably benign |
Het |
| Gm28042 |
A |
G |
2: 119,862,637 (GRCm39) |
Y302C |
probably damaging |
Het |
| Gsta2 |
A |
G |
9: 78,241,192 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,524 (GRCm39) |
S891P |
unknown |
Het |
| Kcmf1 |
G |
T |
6: 72,820,010 (GRCm39) |
R330S |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,142,208 (GRCm39) |
E821* |
probably null |
Het |
| L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
| Met |
A |
T |
6: 17,558,765 (GRCm39) |
D1131V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,785,342 (GRCm39) |
E1428G |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,813,657 (GRCm39) |
|
probably benign |
Het |
| Ogfod1 |
T |
A |
8: 94,782,766 (GRCm39) |
L294H |
possibly damaging |
Het |
| Or8d1b |
G |
T |
9: 38,887,514 (GRCm39) |
V181F |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,851 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,330 (GRCm39) |
Q108L |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,260,481 (GRCm39) |
R645L |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,236 (GRCm39) |
C151* |
probably null |
Het |
| Reep1 |
T |
A |
6: 71,784,765 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,358,939 (GRCm39) |
A46T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,331,913 (GRCm39) |
I2374N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,363 (GRCm39) |
Y273H |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,826,260 (GRCm39) |
Y238* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,248,194 (GRCm39) |
K411* |
probably null |
Het |
| Spta1 |
G |
T |
1: 174,008,624 (GRCm39) |
A243S |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,378,061 (GRCm39) |
|
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,612,882 (GRCm39) |
R6G |
probably damaging |
Het |
| Timp3 |
A |
G |
10: 86,136,815 (GRCm39) |
D33G |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,041,150 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,200 (GRCm39) |
V53A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,530,035 (GRCm39) |
G3275W |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,376,329 (GRCm39) |
V1023M |
probably benign |
Het |
| Usp26 |
T |
C |
X: 50,846,135 (GRCm39) |
I47V |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,901,902 (GRCm39) |
V76A |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,646,058 (GRCm39) |
N1993S |
probably damaging |
Het |
| Wdr59 |
G |
A |
8: 112,202,750 (GRCm39) |
R598C |
probably damaging |
Het |
|
| Other mutations in Abi3bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Abi3bp
|
APN |
16 |
56,423,168 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL01580:Abi3bp
|
APN |
16 |
56,495,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Abi3bp
|
APN |
16 |
56,498,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Abi3bp
|
APN |
16 |
56,353,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01866:Abi3bp
|
APN |
16 |
56,492,336 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02022:Abi3bp
|
APN |
16 |
56,412,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Abi3bp
|
APN |
16 |
56,462,930 (GRCm39) |
splice site |
probably benign |
|
|
IGL02122:Abi3bp
|
APN |
16 |
56,507,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02155:Abi3bp
|
APN |
16 |
56,408,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02351:Abi3bp
|
APN |
16 |
56,474,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02358:Abi3bp
|
APN |
16 |
56,474,418 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02418:Abi3bp
|
APN |
16 |
56,424,479 (GRCm39) |
splice site |
probably benign |
|
|
IGL02559:Abi3bp
|
APN |
16 |
56,507,433 (GRCm39) |
nonsense |
probably null |
|
|
IGL02617:Abi3bp
|
APN |
16 |
56,394,807 (GRCm39) |
nonsense |
probably null |
|
|
IGL02810:Abi3bp
|
APN |
16 |
56,498,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03174:Abi3bp
|
APN |
16 |
56,435,110 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0389:Abi3bp
|
UTSW |
16 |
56,491,670 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0485:Abi3bp
|
UTSW |
16 |
56,424,375 (GRCm39) |
splice site |
probably null |
|
|
R0557:Abi3bp
|
UTSW |
16 |
56,488,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0616:Abi3bp
|
UTSW |
16 |
56,474,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0685:Abi3bp
|
UTSW |
16 |
56,353,316 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0783:Abi3bp
|
UTSW |
16 |
56,415,601 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0828:Abi3bp
|
UTSW |
16 |
56,498,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1078:Abi3bp
|
UTSW |
16 |
56,474,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1101:Abi3bp
|
UTSW |
16 |
56,426,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Abi3bp
|
UTSW |
16 |
56,506,792 (GRCm39) |
splice site |
probably benign |
|
|
R1145:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1145:Abi3bp
|
UTSW |
16 |
56,488,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1317:Abi3bp
|
UTSW |
16 |
56,488,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1384:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Abi3bp
|
UTSW |
16 |
56,382,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Abi3bp
|
UTSW |
16 |
56,488,642 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1761:Abi3bp
|
UTSW |
16 |
56,488,672 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1830:Abi3bp
|
UTSW |
16 |
56,408,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Abi3bp
|
UTSW |
16 |
56,394,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Abi3bp
|
UTSW |
16 |
56,491,720 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2018:Abi3bp
|
UTSW |
16 |
56,498,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Abi3bp
|
UTSW |
16 |
56,498,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Abi3bp
|
UTSW |
16 |
56,480,581 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2118:Abi3bp
|
UTSW |
16 |
56,298,227 (GRCm39) |
unclassified |
probably benign |
|
|
R2202:Abi3bp
|
UTSW |
16 |
56,471,088 (GRCm39) |
nonsense |
probably null |
|
|
R2202:Abi3bp
|
UTSW |
16 |
56,433,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2203:Abi3bp
|
UTSW |
16 |
56,433,566 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3030:Abi3bp
|
UTSW |
16 |
56,477,682 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3952:Abi3bp
|
UTSW |
16 |
56,424,401 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4176:Abi3bp
|
UTSW |
16 |
56,472,563 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4296:Abi3bp
|
UTSW |
16 |
56,488,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4301:Abi3bp
|
UTSW |
16 |
56,377,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4354:Abi3bp
|
UTSW |
16 |
56,353,314 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4417:Abi3bp
|
UTSW |
16 |
56,474,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Abi3bp
|
UTSW |
16 |
56,471,088 (GRCm39) |
nonsense |
probably null |
|
|
R4808:Abi3bp
|
UTSW |
16 |
56,414,879 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4814:Abi3bp
|
UTSW |
16 |
56,471,116 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5016:Abi3bp
|
UTSW |
16 |
56,491,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5290:Abi3bp
|
UTSW |
16 |
56,462,838 (GRCm39) |
splice site |
probably null |
|
|
R5891:Abi3bp
|
UTSW |
16 |
56,426,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Abi3bp
|
UTSW |
16 |
56,425,032 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6146:Abi3bp
|
UTSW |
16 |
56,491,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6267:Abi3bp
|
UTSW |
16 |
56,414,860 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6905:Abi3bp
|
UTSW |
16 |
56,394,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Abi3bp
|
UTSW |
16 |
56,477,668 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6917:Abi3bp
|
UTSW |
16 |
56,437,684 (GRCm39) |
splice site |
probably null |
|
|
R7071:Abi3bp
|
UTSW |
16 |
56,449,503 (GRCm39) |
nonsense |
probably null |
|
|
R7194:Abi3bp
|
UTSW |
16 |
56,382,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7476:Abi3bp
|
UTSW |
16 |
56,435,109 (GRCm39) |
nonsense |
probably null |
|
|
R7554:Abi3bp
|
UTSW |
16 |
56,438,575 (GRCm39) |
splice site |
probably null |
|
|
R7571:Abi3bp
|
UTSW |
16 |
56,451,345 (GRCm39) |
splice site |
probably null |
|
|
R7661:Abi3bp
|
UTSW |
16 |
56,453,263 (GRCm39) |
splice site |
probably null |
|
|
R7662:Abi3bp
|
UTSW |
16 |
56,437,686 (GRCm39) |
splice site |
probably null |
|
|
R7910:Abi3bp
|
UTSW |
16 |
56,498,105 (GRCm39) |
nonsense |
probably null |
|
|
R8121:Abi3bp
|
UTSW |
16 |
56,452,241 (GRCm39) |
missense |
unknown |
|
|
R8781:Abi3bp
|
UTSW |
16 |
56,426,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8790:Abi3bp
|
UTSW |
16 |
56,495,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Abi3bp
|
UTSW |
16 |
56,507,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Abi3bp
|
UTSW |
16 |
56,456,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Abi3bp
|
UTSW |
16 |
56,417,173 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9282:Abi3bp
|
UTSW |
16 |
56,440,867 (GRCm39) |
missense |
unknown |
|
|
R9363:Abi3bp
|
UTSW |
16 |
56,438,575 (GRCm39) |
splice site |
probably null |
|
|
R9464:Abi3bp
|
UTSW |
16 |
56,409,046 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9506:Abi3bp
|
UTSW |
16 |
56,437,773 (GRCm39) |
missense |
unknown |
|
|
RF008:Abi3bp
|
UTSW |
16 |
56,447,952 (GRCm39) |
intron |
probably benign |
|
|
RF016:Abi3bp
|
UTSW |
16 |
56,447,950 (GRCm39) |
frame shift |
probably null |
|
|
RF052:Abi3bp
|
UTSW |
16 |
56,447,948 (GRCm39) |
intron |
probably benign |
|
|
RF061:Abi3bp
|
UTSW |
16 |
56,447,950 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation