Incidental Mutation 'R4808:Abi3bp'
ID |
370853 |
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 |
042427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R4808 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
56298241-56510498 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56414879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
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: D347G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000036257 Gene: ENSMUSG00000035258 AA Change: D347G
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: D347G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000093711 Gene: ENSMUSG00000035258 AA Change: D347G
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: D347G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000093712 Gene: ENSMUSG00000035258 AA Change: D347G
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 damaging
Transcript: ENSMUST00000171000
AA Change: D347G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128818 Gene: ENSMUSG00000035258 AA Change: D347G
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 |
noncoding transcript
Transcript: ENSMUST00000231337
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231781
AA Change: D347G
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
AA Change: D347G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Meta Mutation Damage Score |
0.0929 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
Adora2a |
A |
G |
10: 75,169,280 (GRCm39) |
N248S |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,706,243 (GRCm39) |
F836L |
probably benign |
Het |
Arap2 |
G |
A |
5: 62,887,984 (GRCm39) |
T454M |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atm |
A |
G |
9: 53,356,795 (GRCm39) |
S2819P |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,694,782 (GRCm39) |
F500S |
probably benign |
Het |
Catsper1 |
G |
A |
19: 5,394,164 (GRCm39) |
D682N |
possibly damaging |
Het |
Chordc1 |
A |
G |
9: 18,203,709 (GRCm39) |
Y6C |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,088,756 (GRCm39) |
K273R |
probably damaging |
Het |
Crat |
T |
C |
2: 30,300,033 (GRCm39) |
I116V |
probably benign |
Het |
Cyp26a1 |
A |
G |
19: 37,689,573 (GRCm39) |
H423R |
probably benign |
Het |
Cyp4f40 |
A |
G |
17: 32,893,249 (GRCm39) |
E360G |
probably benign |
Het |
D430041D05Rik |
A |
C |
2: 104,031,455 (GRCm39) |
|
probably null |
Het |
Eif3i |
A |
T |
4: 129,485,857 (GRCm39) |
F323I |
probably benign |
Het |
Fam53a |
A |
G |
5: 33,765,023 (GRCm39) |
S228P |
probably damaging |
Het |
Gm10305 |
C |
T |
4: 99,161,481 (GRCm39) |
|
noncoding transcript |
Het |
Gm7347 |
C |
T |
5: 26,259,995 (GRCm39) |
R185H |
probably benign |
Het |
Golga2 |
G |
T |
2: 32,193,226 (GRCm39) |
A441S |
probably benign |
Het |
Gphn |
T |
A |
12: 78,701,654 (GRCm39) |
S608T |
probably benign |
Het |
Gramd1b |
A |
T |
9: 40,215,645 (GRCm39) |
V620E |
possibly damaging |
Het |
H2bc18 |
T |
G |
3: 96,177,329 (GRCm39) |
S88A |
probably benign |
Het |
H2-M9 |
T |
C |
17: 36,951,684 (GRCm39) |
T264A |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hsd3b6 |
G |
A |
3: 98,713,601 (GRCm39) |
H233Y |
probably damaging |
Het |
Ighv6-7 |
T |
A |
12: 114,419,341 (GRCm39) |
R88* |
probably null |
Het |
Jup |
C |
T |
11: 100,269,018 (GRCm39) |
R465H |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,699,278 (GRCm39) |
Y101N |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
Myocos |
T |
C |
1: 162,484,609 (GRCm39) |
|
probably benign |
Het |
Nav1 |
C |
T |
1: 135,382,942 (GRCm39) |
G1197S |
probably damaging |
Het |
Oas1g |
T |
G |
5: 121,017,385 (GRCm39) |
K223T |
possibly damaging |
Het |
Oprd1 |
G |
A |
4: 131,844,705 (GRCm39) |
T101M |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,146 (GRCm39) |
D92G |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,623,118 (GRCm39) |
H27R |
probably damaging |
Het |
Pcdha7 |
G |
A |
18: 37,107,281 (GRCm39) |
C102Y |
probably damaging |
Het |
Pcx |
T |
A |
19: 4,670,956 (GRCm39) |
S1086T |
probably benign |
Het |
Pde8a |
A |
G |
7: 80,932,679 (GRCm39) |
T114A |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,991,674 (GRCm39) |
|
probably null |
Het |
Pkn3 |
G |
A |
2: 29,980,093 (GRCm39) |
G750E |
probably damaging |
Het |
Pramel5 |
G |
A |
4: 143,999,325 (GRCm39) |
A254V |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,554,368 (GRCm39) |
L119P |
probably damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,160,190 (GRCm39) |
L395Q |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,256,839 (GRCm39) |
S51P |
probably damaging |
Het |
Rfx5 |
A |
G |
3: 94,865,591 (GRCm39) |
T297A |
probably benign |
Het |
Scaf1 |
T |
C |
7: 44,658,063 (GRCm39) |
E272G |
probably damaging |
Het |
Slc24a2 |
G |
T |
4: 86,950,475 (GRCm39) |
Q396K |
probably benign |
Het |
Slc39a14 |
T |
C |
14: 70,553,250 (GRCm39) |
I162V |
probably damaging |
Het |
Snap25 |
A |
G |
2: 136,612,022 (GRCm39) |
D70G |
probably damaging |
Het |
Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
Sppl3 |
T |
A |
5: 115,221,485 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,095 (GRCm39) |
D314G |
probably damaging |
Het |
Steap1 |
G |
T |
5: 5,788,829 (GRCm39) |
|
probably benign |
Het |
Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
A |
T |
10: 78,588,698 (GRCm39) |
D37E |
probably benign |
Het |
Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,252,097 (GRCm39) |
S473P |
probably damaging |
Het |
Xpo5 |
T |
A |
17: 46,546,896 (GRCm39) |
N882K |
probably benign |
Het |
Zfp536 |
A |
T |
7: 37,178,730 (GRCm39) |
C228S |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGCACCCTAGGAAGTTGAAC -3'
(R):5'- TGGTCACCAAGATCAAGGC -3'
Sequencing Primer
(F):5'- GTTGAACAGATATGTAGGCTGTCAAC -3'
(R):5'- GTGCAGCTCTCCAGTAGAACTTG -3'
|
Posted On |
2016-02-04 |