Incidental Mutation 'R6256:Xrra1'
ID |
506115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xrra1
|
Ensembl Gene |
ENSMUSG00000035211 |
Gene Name |
X-ray radiation resistance associated 1 |
Synonyms |
|
MMRRC Submission |
044373-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R6256 (G1)
|
Quality Score |
170.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
99508425-99567031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 99563671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 553
(S553R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035929
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036155]
|
AlphaFold |
Q3U3V8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036155
AA Change: S553R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035929 Gene: ENSMUSG00000035211 AA Change: S553R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208270
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208449
|
Meta Mutation Damage Score |
0.1166 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
Hrnr |
A |
G |
3: 93,229,918 (GRCm39) |
D52G |
probably damaging |
Het |
Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
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 |
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 |
R9196:Xrra1
|
UTSW |
7 |
99,563,699 (GRCm39) |
critical splice donor site |
probably null |
|
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'- CACTGAAGACACTTCTCACGAG -3'
(R):5'- TGCTGCCTATGTATGCCACAG -3'
Sequencing Primer
(F):5'- GACACTTCTCACGAGGCACTG -3'
(R):5'- ATGCCACAGGACATTGTGTC -3'
|
Posted On |
2018-02-28 |