Incidental Mutation 'R9742:Xrra1'
| ID |
731874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrra1
|
| Ensembl Gene |
ENSMUSG00000035211 |
| Gene Name |
X-ray radiation resistance associated 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R9742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99508425-99567031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99563660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 549
(D549G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036155]
|
| AlphaFold |
Q3U3V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036155
AA Change: D549G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: D549G
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
| Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
| Actrt3 |
T |
C |
3: 30,652,434 (GRCm39) |
Y220C |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
| Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
| Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
| Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
| Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
| Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
C |
T |
7: 138,806,229 (GRCm39) |
A298V |
probably benign |
Het |
| Lsr |
CTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTC |
7: 30,657,492 (GRCm39) |
|
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
| Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
| Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
| Zhx2 |
A |
G |
15: 57,686,806 (GRCm39) |
E725G |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
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 |
|
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 |
|
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'- TTCTCACGAGGCACTGTTTG -3'
(R):5'- TGAGATCTGAGATGCTGCCTATG -3'
Sequencing Primer
(F):5'- GCACTGTTTGCCAATGAGG -3'
(R):5'- ATGCCACAGGACATTGTGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation