Incidental Mutation 'R9196:Xrra1'
| ID |
697946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrra1
|
| Ensembl Gene |
ENSMUSG00000035211 |
| Gene Name |
X-ray radiation resistance associated 1 |
| Synonyms |
|
| MMRRC Submission |
068955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99508425-99567031 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 99563699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036155]
|
| AlphaFold |
Q3U3V8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036155
|
| SMART Domains |
Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Blast:LRR
|
144 |
168 |
4e-6 |
BLAST |
|
LRR
|
191 |
214 |
2.02e-1 |
SMART |
|
LRR
|
232 |
253 |
1.67e2 |
SMART |
|
LRR
|
257 |
278 |
6.41e1 |
SMART |
|
LRR
|
371 |
398 |
4.09e1 |
SMART |
|
low complexity region
|
748 |
756 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
92% (35/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,605,644 (GRCm39) |
L176P |
probably benign |
Het |
| Abtb2 |
A |
T |
2: 103,513,647 (GRCm39) |
H352L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,755,995 (GRCm39) |
V651A |
possibly damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,485,134 (GRCm39) |
L519Q |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpn |
G |
A |
8: 117,658,344 (GRCm39) |
D97N |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,873,753 (GRCm39) |
C576R |
probably benign |
Het |
| Col8a1 |
A |
T |
16: 57,447,730 (GRCm39) |
D593E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,787,863 (GRCm39) |
E891K |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,150,689 (GRCm39) |
Y255H |
probably benign |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hepacam |
A |
T |
9: 37,279,052 (GRCm39) |
Q27L |
probably benign |
Het |
| Hibadh |
C |
T |
6: 52,525,865 (GRCm39) |
V262I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,962 (GRCm39) |
D227V |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,778 (GRCm39) |
L106P |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Jmy |
T |
A |
13: 93,601,209 (GRCm39) |
D399V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,371,855 (GRCm39) |
I332N |
probably benign |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,805,716 (GRCm39) |
I1699N |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,455,316 (GRCm39) |
Q439R |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,621,003 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Reln |
A |
C |
5: 22,357,471 (GRCm39) |
S198R |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,068,877 (GRCm39) |
S41G |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,872 (GRCm39) |
S213G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,078,613 (GRCm39) |
I1593V |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,988,464 (GRCm39) |
F717L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,761 (GRCm39) |
T409A |
probably benign |
Het |
|
| Other mutations in Xrra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01782:Xrra1
|
APN |
7 |
99,524,401 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01938:Xrra1
|
APN |
7 |
99,528,676 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02064:Xrra1
|
APN |
7 |
99,563,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02286:Xrra1
|
APN |
7 |
99,563,434 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02415:Xrra1
|
APN |
7 |
99,565,150 (GRCm39) |
missense |
probably benign |
|
|
R0332:Xrra1
|
UTSW |
7 |
99,525,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Xrra1
|
UTSW |
7 |
99,528,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0533:Xrra1
|
UTSW |
7 |
99,524,352 (GRCm39) |
splice site |
probably null |
|
|
R0601:Xrra1
|
UTSW |
7 |
99,560,175 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Xrra1
|
UTSW |
7 |
99,520,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Xrra1
|
UTSW |
7 |
99,547,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1687:Xrra1
|
UTSW |
7 |
99,525,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Xrra1
|
UTSW |
7 |
99,560,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Xrra1
|
UTSW |
7 |
99,546,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Xrra1
|
UTSW |
7 |
99,555,775 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4967:Xrra1
|
UTSW |
7 |
99,555,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5213:Xrra1
|
UTSW |
7 |
99,547,690 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5663:Xrra1
|
UTSW |
7 |
99,535,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Xrra1
|
UTSW |
7 |
99,525,462 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6256:Xrra1
|
UTSW |
7 |
99,563,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6269:Xrra1
|
UTSW |
7 |
99,566,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7234:Xrra1
|
UTSW |
7 |
99,563,456 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7316:Xrra1
|
UTSW |
7 |
99,525,423 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7655:Xrra1
|
UTSW |
7 |
99,560,189 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7656:Xrra1
|
UTSW |
7 |
99,560,189 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8688:Xrra1
|
UTSW |
7 |
99,555,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Xrra1
|
UTSW |
7 |
99,555,761 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9016:Xrra1
|
UTSW |
7 |
99,525,462 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9233:Xrra1
|
UTSW |
7 |
99,516,574 (GRCm39) |
missense |
probably benign |
|
|
R9545:Xrra1
|
UTSW |
7 |
99,535,334 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9641:Xrra1
|
UTSW |
7 |
99,561,088 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9742:Xrra1
|
UTSW |
7 |
99,563,660 (GRCm39) |
missense |
probably benign |
0.40 |
|
X0017:Xrra1
|
UTSW |
7 |
99,565,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Xrra1
|
UTSW |
7 |
99,547,693 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACTTCTCACGAGGCAC -3'
(R):5'- CTGAGATGCTGCCTATGTATGCC -3'
Sequencing Primer
(F):5'- TCTCACGAGGCACTGTTTG -3'
(R):5'- ATGCCACAGGACATTGTGTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation