Incidental Mutation 'R7554:Abi3bp'
ID |
585996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abi3bp
|
Ensembl Gene |
ENSMUSG00000035258 |
Gene Name |
ABI family member 3 binding protein |
Synonyms |
D930038M13Rik, TARSH, 5033411B22Rik, eratin |
MMRRC Submission |
045651-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 56438575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000036257 Gene: ENSMUSG00000035258
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
|
SMART Domains |
Protein: ENSMUSP00000093711 Gene: ENSMUSG00000035258
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
|
SMART Domains |
Protein: ENSMUSP00000093712 Gene: ENSMUSG00000035258
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
|
SMART Domains |
Protein: ENSMUSP00000128818 Gene: ENSMUSG00000035258
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 null
Transcript: ENSMUST00000231781
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,839,686 (GRCm39) |
F185I |
probably damaging |
Het |
Acot5 |
T |
A |
12: 84,120,254 (GRCm39) |
L203H |
probably damaging |
Het |
Alad |
C |
T |
4: 62,430,023 (GRCm39) |
|
probably null |
Het |
Alkbh5 |
C |
T |
11: 60,429,415 (GRCm39) |
T56I |
probably benign |
Het |
Apbb1ip |
G |
A |
2: 22,713,558 (GRCm39) |
D138N |
unknown |
Het |
BC049715 |
T |
G |
6: 136,817,295 (GRCm39) |
S178R |
probably damaging |
Het |
C1rb |
C |
A |
6: 124,557,365 (GRCm39) |
H501N |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,718,408 (GRCm39) |
M2327L |
probably benign |
Het |
Cers4 |
G |
A |
8: 4,565,718 (GRCm39) |
V55I |
probably benign |
Het |
Cngb3 |
A |
T |
4: 19,461,753 (GRCm39) |
K545* |
probably null |
Het |
Crb1 |
C |
T |
1: 139,265,019 (GRCm39) |
C133Y |
probably damaging |
Het |
Cryba4 |
C |
T |
5: 112,398,969 (GRCm39) |
R25Q |
probably damaging |
Het |
Cyp7b1 |
C |
T |
3: 18,151,610 (GRCm39) |
G201D |
probably benign |
Het |
Dcun1d2 |
A |
T |
8: 13,331,077 (GRCm39) |
C18S |
probably benign |
Het |
Ddx39b |
A |
T |
17: 35,466,006 (GRCm39) |
I176F |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,567,857 (GRCm39) |
I1913T |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,816,296 (GRCm39) |
I198T |
probably damaging |
Het |
Esp34 |
G |
A |
17: 38,866,782 (GRCm39) |
M75I |
probably benign |
Het |
Fam98a |
G |
T |
17: 75,854,670 (GRCm39) |
C46* |
probably null |
Het |
Fanci |
A |
T |
7: 79,062,500 (GRCm39) |
N342I |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,490,202 (GRCm39) |
I3705F |
possibly damaging |
Het |
Fbxw7 |
T |
A |
3: 84,883,620 (GRCm39) |
V598D |
|
Het |
Gas2l2 |
G |
A |
11: 83,315,236 (GRCm39) |
Q306* |
probably null |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,335,292 (GRCm39) |
S378T |
unknown |
Het |
Hao1 |
C |
T |
2: 134,372,538 (GRCm39) |
V157M |
possibly damaging |
Het |
Hdlbp |
C |
T |
1: 93,365,031 (GRCm39) |
V79M |
probably damaging |
Het |
Htt |
G |
A |
5: 35,022,084 (GRCm39) |
R1676H |
probably damaging |
Het |
Ift56 |
T |
A |
6: 38,362,435 (GRCm39) |
L70Q |
probably null |
Het |
Klhl11 |
A |
G |
11: 100,354,774 (GRCm39) |
V349A |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,031,492 (GRCm39) |
E1522G |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,451,300 (GRCm39) |
K1531M |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,451,301 (GRCm39) |
K1531* |
probably null |
Het |
Mapk15 |
A |
G |
15: 75,867,745 (GRCm39) |
Y120C |
possibly damaging |
Het |
Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
Mgat4d |
A |
C |
8: 84,082,402 (GRCm39) |
K117N |
probably benign |
Het |
Mid1 |
G |
T |
X: 168,769,010 (GRCm39) |
S468I |
possibly damaging |
Het |
Mmp8 |
T |
C |
9: 7,563,112 (GRCm39) |
L225P |
probably damaging |
Het |
Mrps31 |
A |
G |
8: 22,911,445 (GRCm39) |
K229R |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,412,513 (GRCm39) |
T1820S |
unknown |
Het |
Myof |
T |
C |
19: 37,942,958 (GRCm39) |
T707A |
probably benign |
Het |
Nckap5l |
A |
T |
15: 99,327,261 (GRCm39) |
S143T |
probably benign |
Het |
Notch3 |
A |
G |
17: 32,341,345 (GRCm39) |
S2136P |
probably benign |
Het |
Nphp3 |
A |
T |
9: 103,919,270 (GRCm39) |
D1306V |
probably damaging |
Het |
Or10ag56 |
T |
A |
2: 87,139,349 (GRCm39) |
M92K |
probably damaging |
Het |
Or1e1b-ps1 |
C |
T |
11: 73,845,630 (GRCm39) |
T38I |
probably damaging |
Het |
Or2at1 |
T |
A |
7: 99,417,210 (GRCm39) |
N280K |
possibly damaging |
Het |
Or52n1 |
T |
C |
7: 104,383,074 (GRCm39) |
I166V |
probably benign |
Het |
Or56b1 |
T |
C |
7: 104,285,733 (GRCm39) |
M284T |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,709,769 (GRCm39) |
I271M |
probably benign |
Het |
Pabpc4l |
T |
A |
3: 46,401,549 (GRCm39) |
T32S |
probably benign |
Het |
Pcdhb10 |
A |
C |
18: 37,544,935 (GRCm39) |
T4P |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,358,866 (GRCm39) |
I358M |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,913,647 (GRCm39) |
E1178G |
|
Het |
Prkcd |
A |
T |
14: 30,331,220 (GRCm39) |
Y52N |
probably damaging |
Het |
Rasa3 |
G |
A |
8: 13,645,390 (GRCm39) |
T183M |
probably damaging |
Het |
Rbm26 |
G |
T |
14: 105,398,029 (GRCm39) |
A31D |
unknown |
Het |
Scara3 |
T |
C |
14: 66,158,299 (GRCm39) |
T570A |
possibly damaging |
Het |
Sec24d |
T |
A |
3: 123,149,423 (GRCm39) |
V810D |
probably damaging |
Het |
Sgcz |
A |
T |
8: 38,030,426 (GRCm39) |
|
probably null |
Het |
Stt3b |
A |
G |
9: 115,109,477 (GRCm39) |
|
probably null |
Het |
Synpo |
G |
T |
18: 60,736,405 (GRCm39) |
Q514K |
probably benign |
Het |
Tagln2 |
G |
T |
1: 172,333,411 (GRCm39) |
K88N |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,654,388 (GRCm39) |
K601N |
probably benign |
Het |
Tent4a |
G |
T |
13: 69,648,191 (GRCm39) |
H734Q |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,153,811 (GRCm39) |
F371S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,671,652 (GRCm39) |
V11304E |
unknown |
Het |
Ttn |
C |
T |
2: 76,706,207 (GRCm39) |
W9171* |
probably null |
Het |
Vmn2r50 |
A |
T |
7: 9,784,066 (GRCm39) |
M136K |
probably null |
Het |
Zfp518b |
G |
A |
5: 38,830,415 (GRCm39) |
P530L |
probably damaging |
Het |
Zfp941 |
C |
A |
7: 140,391,970 (GRCm39) |
S463I |
possibly 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 |
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 |
56,433,566 (GRCm39) |
missense |
probably benign |
0.06 |
R2202:Abi3bp
|
UTSW |
16 |
56,471,088 (GRCm39) |
nonsense |
probably null |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATGTCATACAGTCTGTCTCGAC -3'
(R):5'- GCCTAGGGATTGGACAGAAC -3'
Sequencing Primer
(F):5'- TGTCTCGACAGTCAGCTGAC -3'
(R):5'- TTGGACAGAACACCATGCTG -3'
|
Posted On |
2019-10-18 |