Incidental Mutation 'R8781:Abi3bp'
ID |
670277 |
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 |
068605-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8781 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56426512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 509
(T509I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048471]
[ENSMUST00000096012]
[ENSMUST00000096013]
[ENSMUST00000171000]
[ENSMUST00000231781]
[ENSMUST00000231832]
[ENSMUST00000231870]
|
AlphaFold |
A0A338P6S8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048471
AA Change: T509I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000036257 Gene: ENSMUSG00000035258 AA Change: T509I
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: T509I
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093711 Gene: ENSMUSG00000035258 AA Change: T509I
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 damaging
Transcript: ENSMUST00000096013
AA Change: T509I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093712 Gene: ENSMUSG00000035258 AA Change: T509I
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 damaging
Transcript: ENSMUST00000231781
AA Change: T509I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231870
AA Change: T509I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
A |
G |
19: 3,767,538 (GRCm39) |
D375G |
possibly damaging |
Het |
Atp13a2 |
T |
A |
4: 140,723,691 (GRCm39) |
C257S |
probably benign |
Het |
Ccdc183 |
T |
A |
2: 25,502,208 (GRCm39) |
|
probably benign |
Het |
Cd109 |
C |
T |
9: 78,543,929 (GRCm39) |
P158S |
probably damaging |
Het |
Cdh23 |
C |
T |
10: 60,167,567 (GRCm39) |
E1810K |
probably damaging |
Het |
Cog5 |
T |
A |
12: 31,883,249 (GRCm39) |
W393R |
probably damaging |
Het |
Cyth1 |
C |
T |
11: 118,073,069 (GRCm39) |
R277Q |
probably damaging |
Het |
Ddx54 |
G |
T |
5: 120,751,217 (GRCm39) |
R6L |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,944,078 (GRCm39) |
I1765N |
probably damaging |
Het |
Erp27 |
G |
A |
6: 136,886,458 (GRCm39) |
Q192* |
probably null |
Het |
Fam81a |
T |
A |
9: 70,032,381 (GRCm39) |
H37L |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,194,719 (GRCm39) |
S1481P |
possibly damaging |
Het |
Fbp1 |
T |
G |
13: 63,016,831 (GRCm39) |
I224L |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,503 (GRCm38) |
V32A |
probably damaging |
Het |
Gapvd1 |
T |
A |
2: 34,610,698 (GRCm39) |
H495L |
probably benign |
Het |
Gas2l3 |
T |
C |
10: 89,266,841 (GRCm39) |
D33G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,102,738 (GRCm39) |
D1213E |
probably benign |
Het |
Hsf2bp |
C |
G |
17: 32,252,241 (GRCm39) |
E65Q |
possibly damaging |
Het |
Kif28 |
G |
T |
1: 179,525,481 (GRCm39) |
T937K |
probably benign |
Het |
Klf6 |
T |
A |
13: 5,915,071 (GRCm39) |
V170D |
probably benign |
Het |
Kri1 |
A |
T |
9: 21,191,748 (GRCm39) |
S283T |
|
Het |
Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
Lct |
A |
G |
1: 128,215,261 (GRCm39) |
Y1772H |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,508,958 (GRCm39) |
E1003D |
unknown |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Or2b2b |
A |
G |
13: 21,859,013 (GRCm39) |
S34P |
probably damaging |
Het |
Or52j3 |
T |
A |
7: 102,836,082 (GRCm39) |
D91E |
probably benign |
Het |
Or8c14-ps1 |
T |
G |
9: 38,101,385 (GRCm39) |
D121E |
probably damaging |
Het |
Parg |
T |
A |
14: 31,936,400 (GRCm39) |
D518E |
probably benign |
Het |
Pcx |
G |
A |
19: 4,670,980 (GRCm39) |
A1095T |
probably damaging |
Het |
Pde1b |
G |
A |
15: 103,433,727 (GRCm39) |
V342M |
probably damaging |
Het |
Pik3r2 |
C |
T |
8: 71,222,046 (GRCm39) |
G579D |
possibly damaging |
Het |
Pknox1 |
G |
A |
17: 31,821,837 (GRCm39) |
|
probably benign |
Het |
Pla2g3 |
C |
A |
11: 3,438,530 (GRCm39) |
T60K |
probably benign |
Het |
Ppfia3 |
C |
T |
7: 44,997,953 (GRCm39) |
E725K |
possibly damaging |
Het |
Ppl |
C |
T |
16: 4,915,800 (GRCm39) |
V588I |
possibly damaging |
Het |
Sardh |
T |
A |
2: 27,086,715 (GRCm39) |
E815V |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,567,775 (GRCm39) |
E273G |
probably benign |
Het |
Slc7a8 |
A |
T |
14: 54,996,996 (GRCm39) |
|
probably benign |
Het |
Smg8 |
G |
A |
11: 86,971,147 (GRCm39) |
P875S |
possibly damaging |
Het |
Sncaip |
T |
C |
18: 53,039,614 (GRCm39) |
S603P |
probably benign |
Het |
Speg |
G |
A |
1: 75,383,665 (GRCm39) |
G1218S |
probably damaging |
Het |
Stk31 |
A |
T |
6: 49,383,709 (GRCm39) |
D92V |
probably damaging |
Het |
Suco |
A |
G |
1: 161,645,951 (GRCm39) |
V1250A |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,850 (GRCm39) |
V132A |
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,143,263 (GRCm39) |
I524T |
probably damaging |
Het |
Tenm3 |
CTGCTGTGAAATG |
C |
8: 48,795,484 (GRCm39) |
|
probably null |
Het |
Tln2 |
C |
A |
9: 67,163,233 (GRCm39) |
V1105L |
probably damaging |
Het |
Tmem19 |
T |
C |
10: 115,195,563 (GRCm39) |
|
probably benign |
Het |
Tmprss4 |
T |
C |
9: 45,087,740 (GRCm39) |
Y283C |
possibly damaging |
Het |
Trim29 |
T |
A |
9: 43,222,615 (GRCm39) |
V148D |
probably benign |
Het |
Trip10 |
C |
T |
17: 57,562,313 (GRCm39) |
A277V |
probably benign |
Het |
Usp12 |
C |
A |
5: 146,700,172 (GRCm39) |
R61L |
probably benign |
Het |
Vmn1r58 |
T |
G |
7: 5,413,482 (GRCm39) |
L249F |
probably benign |
Het |
Vmn2r31 |
C |
T |
7: 7,387,400 (GRCm39) |
V724I |
possibly damaging |
Het |
Vmn2r66 |
C |
T |
7: 84,644,355 (GRCm39) |
W685* |
probably null |
Het |
Vmn2r8 |
A |
G |
5: 108,945,597 (GRCm39) |
I670T |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,305,323 (GRCm39) |
M2K |
possibly damaging |
Het |
Wdr12 |
A |
G |
1: 60,126,300 (GRCm39) |
W172R |
probably damaging |
Het |
Yipf5 |
A |
T |
18: 40,340,752 (GRCm39) |
V200E |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,801 (GRCm39) |
K713R |
probably damaging |
Het |
Zfp768 |
A |
G |
7: 126,942,476 (GRCm39) |
S554P |
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 |
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 |
|
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'- CTCTGTAGAAAGCATGCACAGC -3'
(R):5'- CACGTTATTGAAGACCCCTGTTTTC -3'
Sequencing Primer
(F):5'- ACAGCATGGGCATCTAGAAATAC -3'
(R):5'- CTGTCCTGCAGAGAAACA -3'
|
Posted On |
2021-04-30 |