Incidental Mutation 'IGL01782:Xrra1'
| ID |
153944 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xrra1
|
| Ensembl Gene |
ENSMUSG00000035211 |
| Gene Name |
X-ray radiation resistance associated 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99508425-99567031 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99524401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036155]
[ENSMUST00000207855]
[ENSMUST00000208354]
|
| AlphaFold |
Q3U3V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036155
AA Change: T104A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: T104A
| 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: ENSMUST00000207760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207855
AA Change: T104A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208321
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208354
AA Change: T104A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208548
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
C |
9: 63,523,995 (GRCm39) |
V34A |
probably benign |
Het |
| Acacb |
G |
T |
5: 114,338,581 (GRCm39) |
G764W |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,772 (GRCm39) |
T151S |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,777,607 (GRCm39) |
C428R |
probably damaging |
Het |
| Card11 |
A |
G |
5: 140,913,481 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,092,639 (GRCm39) |
N541K |
possibly damaging |
Het |
| Cep290 |
C |
T |
10: 100,380,987 (GRCm39) |
Q1742* |
probably null |
Het |
| Cyp2c23 |
T |
C |
19: 44,017,554 (GRCm39) |
T25A |
possibly damaging |
Het |
| Dtx2 |
C |
A |
5: 136,038,981 (GRCm39) |
Y13* |
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,581,374 (GRCm39) |
I273T |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,103,966 (GRCm39) |
T134A |
probably damaging |
Het |
| Fig4 |
A |
C |
10: 41,146,396 (GRCm39) |
L182R |
probably benign |
Het |
| Gm10220 |
A |
T |
5: 26,322,021 (GRCm39) |
L217Q |
probably damaging |
Het |
| Gm4871 |
T |
G |
5: 144,967,170 (GRCm39) |
|
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,837 (GRCm39) |
|
probably benign |
Het |
| Lurap1 |
A |
G |
4: 116,001,700 (GRCm39) |
|
probably benign |
Het |
| Mmp17 |
T |
A |
5: 129,679,205 (GRCm39) |
V368E |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,670 (GRCm39) |
|
probably null |
Het |
| Nisch |
G |
A |
14: 30,898,596 (GRCm39) |
|
probably benign |
Het |
| Odf4 |
A |
T |
11: 68,817,459 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or2t48 |
T |
A |
11: 58,419,985 (GRCm39) |
M276L |
probably benign |
Het |
| Or6c207 |
C |
T |
10: 129,104,908 (GRCm39) |
V95I |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,463,465 (GRCm39) |
S661P |
possibly damaging |
Het |
| Otud4 |
T |
G |
8: 80,399,640 (GRCm39) |
F784V |
possibly damaging |
Het |
| Prkch |
A |
G |
12: 73,806,436 (GRCm39) |
D561G |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,417,763 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,314,131 (GRCm39) |
K1617R |
probably damaging |
Het |
| Rarb |
T |
G |
14: 16,434,180 (GRCm38) |
S333R |
probably damaging |
Het |
| Rps6ka2 |
A |
G |
17: 7,503,523 (GRCm39) |
K99E |
probably benign |
Het |
| Sel1l2 |
A |
T |
2: 140,085,855 (GRCm39) |
W542R |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,748 (GRCm39) |
R643L |
probably damaging |
Het |
| Sltm |
T |
A |
9: 70,480,923 (GRCm39) |
D258E |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,263,955 (GRCm39) |
V80I |
possibly damaging |
Het |
| Taar2 |
A |
T |
10: 23,817,042 (GRCm39) |
N194I |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,174,129 (GRCm39) |
|
probably null |
Het |
| Unk |
C |
A |
11: 115,949,205 (GRCm39) |
N645K |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,665 (GRCm39) |
K161R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,731,701 (GRCm39) |
D137G |
probably damaging |
Het |
| Zfp410 |
T |
A |
12: 84,374,048 (GRCm39) |
|
probably benign |
Het |
| Zfp764l1 |
T |
C |
7: 126,992,476 (GRCm39) |
T45A |
probably benign |
Het |
|
| Other mutations in Xrra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation