Incidental Mutation 'R8470:Abraxas2'
| ID |
656992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abraxas2
|
| Ensembl Gene |
ENSMUSG00000030965 |
| Gene Name |
BRISC complex subunit |
| Synonyms |
KIAA0157, Fam175b, C430003P19Rik |
| MMRRC Submission |
067914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
132460954-132486840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132476685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 142
(I142F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084497]
[ENSMUST00000106161]
[ENSMUST00000124096]
[ENSMUST00000134784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084497
AA Change: I142F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: I142F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
224 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106161
AA Change: I139F
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965
AA Change: I139F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
221 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129552
AA Change: I137F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134784
AA Change: H83L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147786
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,984,496 (GRCm39) |
Y56H |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,357 (GRCm39) |
D2801G |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,489,269 (GRCm39) |
I301T |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,114,285 (GRCm39) |
T159M |
probably benign |
Het |
| B130006D01Rik |
C |
T |
11: 95,617,175 (GRCm39) |
|
probably benign |
Het |
| Btf3l4b |
C |
A |
13: 96,217,432 (GRCm39) |
D136Y |
possibly damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,202,392 (GRCm39) |
K301R |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,733,894 (GRCm39) |
Q627L |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,172,751 (GRCm39) |
M307I |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,293,207 (GRCm39) |
I1254M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,664,510 (GRCm39) |
T37A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,171,931 (GRCm39) |
V1857A |
probably damaging |
Het |
| Gm3486 |
T |
C |
14: 41,206,538 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,162,416 (GRCm39) |
V353A |
probably damaging |
Het |
| Irgq |
A |
T |
7: 24,233,715 (GRCm39) |
R519W |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,652,950 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,739,573 (GRCm39) |
C762G |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,606,374 (GRCm39) |
V454E |
probably damaging |
Het |
| Or10h5 |
A |
G |
17: 33,434,868 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,254,228 (GRCm39) |
I47N |
probably damaging |
Het |
| Or7g35 |
T |
G |
9: 19,496,265 (GRCm39) |
L144R |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,145,937 (GRCm39) |
K676R |
probably benign |
Het |
| Pknox2 |
C |
T |
9: 36,834,986 (GRCm39) |
R161H |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,547,430 (GRCm39) |
N365S |
probably benign |
Het |
| Prrg4 |
A |
G |
2: 104,679,501 (GRCm39) |
L8P |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,453,595 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,993,834 (GRCm39) |
I632S |
possibly damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,314 (GRCm39) |
F2232C |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,070,758 (GRCm39) |
E1533D |
possibly damaging |
Het |
| Ssbp1 |
A |
G |
6: 40,454,941 (GRCm39) |
I133M |
probably damaging |
Het |
| Stap1 |
A |
G |
5: 86,242,602 (GRCm39) |
I188V |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,603,173 (GRCm39) |
M1040T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,887,501 (GRCm39) |
F877L |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 45,858,674 (GRCm39) |
L538P |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,904,162 (GRCm39) |
A1364T |
probably benign |
Het |
|
| Other mutations in Abraxas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Abraxas2
|
APN |
7 |
132,485,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0123:Abraxas2
|
UTSW |
7 |
132,476,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Abraxas2
|
UTSW |
7 |
132,476,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Abraxas2
|
UTSW |
7 |
132,470,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2145:Abraxas2
|
UTSW |
7 |
132,484,790 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2244:Abraxas2
|
UTSW |
7 |
132,484,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3839:Abraxas2
|
UTSW |
7 |
132,484,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5133:Abraxas2
|
UTSW |
7 |
132,484,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5260:Abraxas2
|
UTSW |
7 |
132,461,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Abraxas2
|
UTSW |
7 |
132,476,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Abraxas2
|
UTSW |
7 |
132,476,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Abraxas2
|
UTSW |
7 |
132,478,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Abraxas2
|
UTSW |
7 |
132,485,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Abraxas2
|
UTSW |
7 |
132,473,323 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9687:Abraxas2
|
UTSW |
7 |
132,482,577 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCTCTTAATACTTTGCTGTC -3'
(R):5'- AAGCAAATTAAGTGTCCACCG -3'
Sequencing Primer
(F):5'- CTTAATACTTTGCTGTCGTCTGG -3'
(R):5'- TTTGATTGGCAAGCAAACCCCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation