Incidental Mutation 'IGL02351:Abi3bp'
| ID |
289460 |
| 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 # |
IGL02351
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56474418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 448
(T448A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128818
(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: T718A
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
AA Change: T718A
| 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 |
possibly damaging
Transcript: ENSMUST00000096012
AA Change: T618A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
AA Change: T618A
| 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: T654A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
AA Change: T654A
| 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 |
possibly damaging
Transcript: ENSMUST00000171000
AA Change: T448A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
AA Change: T448A
| 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 |
probably benign
Transcript: ENSMUST00000231781
AA Change: T1176A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231832
AA Change: T423A
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231870
AA Change: T638A
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
A |
4: 86,075,110 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
A |
G |
5: 50,215,900 (GRCm39) |
V73A |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,489,358 (GRCm39) |
|
probably benign |
Het |
| Aktip |
C |
T |
8: 91,853,520 (GRCm39) |
V96I |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,433,476 (GRCm39) |
I258T |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,273,160 (GRCm39) |
T1428I |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,826,934 (GRCm39) |
Y428N |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,597,380 (GRCm38) |
S437P |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Cenpq |
A |
G |
17: 41,235,223 (GRCm39) |
L213P |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,446,504 (GRCm39) |
|
probably null |
Het |
| Cln6 |
A |
G |
9: 62,754,407 (GRCm39) |
I150V |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,045,136 (GRCm39) |
T94A |
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,605,861 (GRCm39) |
M345T |
probably damaging |
Het |
| Dapk2 |
T |
A |
9: 66,153,805 (GRCm39) |
I187N |
probably damaging |
Het |
| Dkk2 |
A |
G |
3: 131,883,673 (GRCm39) |
D191G |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,986,785 (GRCm39) |
F3145I |
probably damaging |
Het |
| Dock1 |
A |
C |
7: 134,710,548 (GRCm39) |
D1190A |
possibly damaging |
Het |
| Ehhadh |
T |
A |
16: 21,581,620 (GRCm39) |
L457F |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,497 (GRCm39) |
L552P |
probably damaging |
Het |
| Ghrhr |
T |
G |
6: 55,361,138 (GRCm39) |
I284S |
probably damaging |
Het |
| Gm10288 |
A |
T |
3: 146,544,954 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
T |
G |
7: 4,397,507 (GRCm39) |
I19L |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,456,206 (GRCm39) |
S698L |
possibly damaging |
Het |
| Ifng |
A |
T |
10: 118,278,410 (GRCm39) |
I53F |
possibly damaging |
Het |
| Kazn |
A |
C |
4: 141,874,327 (GRCm39) |
|
probably null |
Het |
| Khk |
A |
T |
5: 31,085,848 (GRCm39) |
I136F |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,788,027 (GRCm39) |
N98Y |
probably damaging |
Het |
| Lsp1 |
T |
C |
7: 142,042,679 (GRCm39) |
|
probably null |
Het |
| Lta4h |
A |
T |
10: 93,314,329 (GRCm39) |
N467I |
probably benign |
Het |
| Mcmbp |
C |
A |
7: 128,311,505 (GRCm39) |
|
probably null |
Het |
| Me2 |
A |
T |
18: 73,931,038 (GRCm39) |
I85K |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,649 (GRCm39) |
Y525N |
probably damaging |
Het |
| Nt5e |
G |
A |
9: 88,209,946 (GRCm39) |
V70M |
probably damaging |
Het |
| Or52e4 |
G |
A |
7: 104,706,182 (GRCm39) |
G243D |
probably damaging |
Het |
| Or8b36 |
A |
T |
9: 37,937,332 (GRCm39) |
I77L |
possibly damaging |
Het |
| Or9k7 |
T |
G |
10: 130,046,603 (GRCm39) |
Y132S |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,129 (GRCm39) |
|
probably benign |
Het |
| Ppm1d |
A |
T |
11: 85,236,541 (GRCm39) |
E440V |
probably damaging |
Het |
| Pramel32 |
A |
T |
4: 88,546,127 (GRCm39) |
I405N |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,915,572 (GRCm39) |
E1047D |
probably damaging |
Het |
| Rwdd2b |
G |
A |
16: 87,234,336 (GRCm39) |
A18V |
probably benign |
Het |
| Serpina5 |
G |
T |
12: 104,068,384 (GRCm39) |
K148N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,036,976 (GRCm39) |
K1154E |
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,599,382 (GRCm39) |
|
probably null |
Het |
| Spcs2 |
T |
C |
7: 99,498,241 (GRCm39) |
K81R |
probably damaging |
Het |
| Stt3b |
T |
A |
9: 115,079,975 (GRCm39) |
M646L |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,646,195 (GRCm39) |
T1169A |
probably benign |
Het |
| Susd1 |
A |
T |
4: 59,427,985 (GRCm39) |
Y66* |
probably null |
Het |
| Trim34a |
T |
A |
7: 103,910,441 (GRCm39) |
C414* |
probably null |
Het |
| Trim58 |
G |
A |
11: 58,542,176 (GRCm39) |
G379S |
probably damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,787,002 (GRCm39) |
Q35L |
probably benign |
Het |
| Zfp418 |
T |
C |
7: 7,177,690 (GRCm39) |
|
probably benign |
Het |
| Zfp57 |
G |
A |
17: 37,320,919 (GRCm39) |
V258I |
probably benign |
Het |
| Zng1 |
A |
T |
19: 24,909,026 (GRCm39) |
|
probably null |
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 |
|
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 |
|
IGL03057:Abi3bp
|
APN |
16 |
56,488,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation