Incidental Mutation 'R4534:Xrcc3'
| ID |
333254 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111769626-111780307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111770966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 321
(L321P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021715]
[ENSMUST00000084941]
[ENSMUST00000122300]
[ENSMUST00000127281]
[ENSMUST00000134578]
|
| AlphaFold |
Q9CXE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021715
AA Change: L321P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021715
Gene: ENSMUSG00000021287
AA Change: L321P
| 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: ENSMUST00000145109
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146491
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl3 |
C |
T |
4: 98,926,232 (GRCm39) |
T454I |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Clstn3 |
C |
T |
6: 124,436,179 (GRCm39) |
R190Q |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
C |
T |
5: 139,137,282 (GRCm39) |
Q212* |
probably null |
Het |
| Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
| Eri2 |
T |
C |
7: 119,389,466 (GRCm39) |
T151A |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gm10320 |
G |
A |
13: 98,626,316 (GRCm39) |
P23S |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,217,814 (GRCm39) |
I240M |
possibly damaging |
Het |
| Heatr5b |
T |
C |
17: 79,118,025 (GRCm39) |
H806R |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,837,332 (GRCm39) |
V335A |
probably benign |
Het |
| Ifi205 |
G |
A |
1: 173,845,207 (GRCm39) |
P192S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,285 (GRCm39) |
H113R |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,019 (GRCm39) |
F236S |
probably damaging |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Jmjd8 |
C |
T |
17: 26,047,984 (GRCm39) |
|
probably null |
Het |
| Lhx3 |
C |
T |
2: 26,094,026 (GRCm39) |
V66I |
probably benign |
Het |
| Nt5c2 |
C |
T |
19: 46,880,100 (GRCm39) |
C336Y |
probably damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,274,343 (GRCm39) |
V740I |
probably damaging |
Het |
| Ocln |
A |
T |
13: 100,648,112 (GRCm39) |
I104N |
possibly damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,613 (GRCm39) |
I101V |
probably benign |
Het |
| Or8g54 |
G |
T |
9: 39,707,296 (GRCm39) |
L208F |
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
| Sh3glb1 |
T |
A |
3: 144,405,624 (GRCm39) |
E77D |
possibly damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,757 (GRCm39) |
Y18C |
probably benign |
Het |
| Stox2 |
A |
T |
8: 47,646,414 (GRCm39) |
S287T |
probably damaging |
Het |
| Sycp2 |
C |
A |
2: 177,996,802 (GRCm39) |
V1134F |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,953,931 (GRCm39) |
S1260N |
possibly damaging |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Thoc5 |
C |
T |
11: 4,874,807 (GRCm39) |
R533* |
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Uchl5 |
C |
T |
1: 143,661,954 (GRCm39) |
T76I |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
| Xpa |
T |
C |
4: 46,185,624 (GRCm39) |
N118S |
probably benign |
Het |
| Xylt2 |
T |
C |
11: 94,557,176 (GRCm39) |
D105G |
probably benign |
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 |
|
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 |
|
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'- GAGCAGATACTGACAGACTAACCG -3'
(R):5'- ACATGGTGGGCTGTACAAG -3'
Sequencing Primer
(F):5'- TGACAGACTAACCGTCACTGGG -3'
(R):5'- AGCACCAACACTCATTTTGTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation