Incidental Mutation 'R9282:Abi3bp'
| ID |
703710 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R9282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56440867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 701
(V701M)
|
| 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 |
unknown
Transcript: ENSMUST00000231781
AA Change: V701M
|
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
G |
A |
14: 66,267,238 (GRCm39) |
P674S |
probably benign |
Het |
| Adam24 |
T |
A |
8: 41,133,674 (GRCm39) |
Y381N |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,251,491 (GRCm39) |
S6209P |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,285,028 (GRCm39) |
K593N |
possibly damaging |
Het |
| Aqp3 |
A |
G |
4: 41,093,640 (GRCm39) |
V258A |
possibly damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,707,906 (GRCm39) |
F390I |
possibly damaging |
Het |
| B4galt6 |
T |
A |
18: 20,825,509 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,948,977 (GRCm39) |
M429T |
probably benign |
Het |
| Col5a2 |
C |
G |
1: 45,478,029 (GRCm39) |
|
probably null |
Het |
| Dcc |
T |
C |
18: 71,815,249 (GRCm39) |
D375G |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,642,077 (GRCm39) |
Y31H |
|
Het |
| Fam131a |
G |
A |
16: 20,520,243 (GRCm39) |
R232H |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,839,879 (GRCm39) |
Y2122H |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,115,059 (GRCm39) |
I421F |
unknown |
Het |
| Fscb |
T |
G |
12: 64,520,097 (GRCm39) |
E456D |
possibly damaging |
Het |
| Furin |
C |
A |
7: 80,040,846 (GRCm39) |
S664I |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,290,381 (GRCm39) |
E906G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,783,915 (GRCm39) |
D346H |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,385,893 (GRCm39) |
L1005P |
probably damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,908 (GRCm39) |
N183S |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,370,984 (GRCm39) |
F1084I |
probably damaging |
Het |
| Katnal1 |
A |
T |
5: 148,831,021 (GRCm39) |
Y184* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,391,633 (GRCm39) |
I1264T |
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,342,805 (GRCm39) |
M234K |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,342,352 (GRCm39) |
V1615E |
probably damaging |
Het |
| Mkrn2 |
A |
G |
6: 115,591,534 (GRCm39) |
|
probably null |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nradd |
T |
A |
9: 110,450,751 (GRCm39) |
Q142L |
possibly damaging |
Het |
| Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,781 (GRCm39) |
I190T |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,028,622 (GRCm39) |
F174L |
probably damaging |
Het |
| Pi4k2b |
C |
T |
5: 52,900,879 (GRCm39) |
T99I |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,391,973 (GRCm39) |
V399D |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,747,207 (GRCm39) |
L326F |
probably damaging |
Het |
| Psmg1 |
T |
C |
16: 95,790,717 (GRCm39) |
I73M |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,093,170 (GRCm39) |
S62P |
probably damaging |
Het |
| Slc23a4 |
T |
A |
6: 34,955,861 (GRCm39) |
I58F |
probably damaging |
Het |
| Slc36a2 |
G |
T |
11: 55,060,837 (GRCm39) |
T191K |
probably benign |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,128 (GRCm39) |
|
probably null |
Het |
| Tbc1d4 |
A |
G |
14: 101,845,616 (GRCm39) |
V94A |
possibly damaging |
Het |
| Tdrd5 |
T |
C |
1: 156,105,030 (GRCm39) |
Y532C |
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,074,772 (GRCm39) |
I931L |
probably benign |
Het |
| Tlr3 |
T |
C |
8: 45,851,643 (GRCm39) |
N418S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,474,518 (GRCm39) |
M164K |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,056,349 (GRCm39) |
V679A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,730,861 (GRCm39) |
Y4951H |
unknown |
Het |
| Usf1 |
T |
A |
1: 171,243,373 (GRCm39) |
V50D |
possibly damaging |
Het |
| Utp6 |
A |
T |
11: 79,826,851 (GRCm39) |
M575K |
probably benign |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,608 (GRCm39) |
R176S |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,098 (GRCm39) |
F442I |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,497,751 (GRCm39) |
F7S |
possibly damaging |
Het |
| Vps41 |
G |
T |
13: 19,013,401 (GRCm39) |
E340* |
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 |
|
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 |
|
|
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 |
|
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'- TGCGGTTAGAGGCACATTC -3'
(R):5'- ATAGGAGCAGATCGTTTAGCC -3'
Sequencing Primer
(F):5'- AGGGATCGTTCCTAACTTCTATTTC -3'
(R):5'- TAGGAGCAGATCGTTTAGCCCAAAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation