Incidental Mutation 'R5842:Xrcc3'
| ID |
450505 |
| 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 |
043223-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5842 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111769626-111780307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111770964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 322
(F322I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021715]
[ENSMUST00000084941]
[ENSMUST00000122300]
[ENSMUST00000127281]
[ENSMUST00000134578]
|
| AlphaFold |
Q9CXE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021715
AA Change: F322I
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287
AA Change: F322I
| 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 benign
Transcript: ENSMUST00000127281
|
| SMART Domains |
Protein: ENSMUSP00000118040
Gene: ENSMUSG00000021287
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
64 |
193 |
4e-17 |
PFAM |
|
Pfam:AAA_25
|
70 |
192 |
2.1e-9 |
PFAM |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147203
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
| Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
| Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
| Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
| Syde2 |
A |
G |
3: 145,704,775 (GRCm39) |
I576V |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
| Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
| Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly 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 |
|
R5937:Xrcc3
|
UTSW |
12 |
111,774,406 (GRCm39) |
missense |
probably null |
0.51 |
|
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'- GCAGATACTGACAGACTAACCG -3'
(R):5'- GACATGGTGGGCTGTACAAG -3'
Sequencing Primer
(F):5'- TGACAGACTAACCGTCACTGGG -3'
(R):5'- AGCACCAACACTCATTTTGTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation