Incidental Mutation 'R5937:Xrcc3'
ID |
462336 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Xrcc3
|
Ensembl Gene |
ENSMUSG00000021287 |
Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 3 |
Synonyms |
4432412E01Rik |
MMRRC Submission |
043242-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5937 (G1)
|
Quality Score |
98 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
111769626-111780307 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 111774406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 141
(C141S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021715]
[ENSMUST00000084941]
[ENSMUST00000122300]
[ENSMUST00000127281]
[ENSMUST00000134578]
|
AlphaFold |
Q9CXE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021715
AA Change: C141S
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021715 Gene: ENSMUSG00000021287 AA Change: C141S
Domain | Start | End | E-Value | Type |
Pfam:Rad51
|
64 |
343 |
1.2e-25 |
PFAM |
Pfam:AAA_25
|
70 |
261 |
2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000084941
|
SMART Domains |
Protein: ENSMUSP00000082004 Gene: ENSMUSG00000021288
Domain | Start | End | E-Value | Type |
coiled coil region
|
86 |
156 |
N/A |
INTRINSIC |
low complexity region
|
158 |
179 |
N/A |
INTRINSIC |
low complexity region
|
188 |
206 |
N/A |
INTRINSIC |
Pfam:TPR_10
|
212 |
253 |
3.1e-9 |
PFAM |
TPR
|
255 |
288 |
3.81e-1 |
SMART |
TPR
|
297 |
330 |
1.16e-5 |
SMART |
TPR
|
339 |
372 |
4.77e-2 |
SMART |
TPR
|
381 |
414 |
2.78e-3 |
SMART |
TPR
|
464 |
497 |
4.93e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122300
|
SMART Domains |
Protein: ENSMUSP00000113997 Gene: ENSMUSG00000021288
Domain | Start | End | E-Value | Type |
Pfam:Rab5-bind
|
80 |
254 |
1e-68 |
PFAM |
Pfam:TPR_10
|
212 |
253 |
8.4e-9 |
PFAM |
TPR
|
255 |
288 |
3.81e-1 |
SMART |
TPR
|
297 |
330 |
1.16e-5 |
SMART |
TPR
|
339 |
372 |
4.77e-2 |
SMART |
TPR
|
381 |
414 |
2.78e-3 |
SMART |
TPR
|
464 |
497 |
2.99e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124064
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127281
AA Change: C141S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118040 Gene: ENSMUSG00000021287 AA Change: C141S
Domain | Start | End | E-Value | Type |
Pfam:Rad51
|
64 |
193 |
4e-17 |
PFAM |
Pfam:AAA_25
|
70 |
192 |
2.1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145109
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132177
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133679
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147203
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134578
|
SMART Domains |
Protein: ENSMUSP00000120491 Gene: ENSMUSG00000021288
Domain | Start | End | E-Value | Type |
Pfam:TPR_1
|
1 |
25 |
1.9e-4 |
PFAM |
Pfam:TPR_7
|
1 |
36 |
1.9e-4 |
PFAM |
Pfam:TPR_10
|
75 |
112 |
7.8e-9 |
PFAM |
Pfam:TPR_1
|
77 |
98 |
1.4e-4 |
PFAM |
Pfam:TPR_7
|
78 |
129 |
1.7e-5 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. Allelic variants in the human gene are associated with susceptibility to breast cancer and cutaneous malignant melanoma. [provided by RefSeq, Sep 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
Taf5 |
C |
T |
19: 47,070,334 (GRCm39) |
S640L |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
probably damaging |
Het |
|
Other mutations in Xrcc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0396:Xrcc3
|
UTSW |
12 |
111,776,391 (GRCm39) |
missense |
probably benign |
0.00 |
R4534:Xrcc3
|
UTSW |
12 |
111,770,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R4535:Xrcc3
|
UTSW |
12 |
111,770,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R5406:Xrcc3
|
UTSW |
12 |
111,778,545 (GRCm39) |
missense |
probably damaging |
0.99 |
R5762:Xrcc3
|
UTSW |
12 |
111,771,044 (GRCm39) |
missense |
probably damaging |
0.97 |
R5842:Xrcc3
|
UTSW |
12 |
111,770,964 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6985:Xrcc3
|
UTSW |
12 |
111,778,530 (GRCm39) |
missense |
probably damaging |
0.98 |
R7011:Xrcc3
|
UTSW |
12 |
111,770,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Xrcc3
|
UTSW |
12 |
111,774,336 (GRCm39) |
missense |
probably benign |
0.00 |
R8680:Xrcc3
|
UTSW |
12 |
111,774,313 (GRCm39) |
missense |
probably damaging |
0.99 |
R9310:Xrcc3
|
UTSW |
12 |
111,771,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATCTGTGAGCACAAGCAG -3'
(R):5'- AGGAGCATAGATGTGTGTACTCAG -3'
Sequencing Primer
(F):5'- TGTGAGCACAAGCAGCACTC -3'
(R):5'- CTAGCCTGTGTTCCTAAGGAGC -3'
|
Posted On |
2017-02-28 |