Incidental Mutation 'R0670:Abraxas2'
| ID |
61397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abraxas2
|
| Ensembl Gene |
ENSMUSG00000030965 |
| Gene Name |
BRISC complex subunit |
| Synonyms |
KIAA0157, Fam175b, C430003P19Rik |
| MMRRC Submission |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
113 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132460954-132486840 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 132470760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084497]
[ENSMUST00000106161]
[ENSMUST00000124096]
[ENSMUST00000134784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084497
|
| SMART Domains |
Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
224 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106161
|
| SMART Domains |
Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965
| 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 |
probably benign
Transcript: ENSMUST00000129552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147786
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Brms1 |
C |
A |
19: 5,095,999 (GRCm39) |
N24K |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
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 |
|
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 |
|
R8470:Abraxas2
|
UTSW |
7 |
132,476,685 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TGTTACGAGAACAACATGGGCTTGG -3'
(R):5'- GCACAGCTCCTCAGATACAGCATTC -3'
Sequencing Primer
(F):5'- ggttgaagagatggctcagtg -3'
(R):5'- CTAAGCATGGTAGCACACTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation