Incidental Mutation 'R9535:Xrcc4'
| ID |
719665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xrcc4
|
| Ensembl Gene |
ENSMUSG00000021615 |
| Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 4 |
| Synonyms |
2310057B22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R9535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
89997033-90237727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90089118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 280
(M280L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022115]
[ENSMUST00000159199]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022115
AA Change: M280L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: M280L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
326 |
1.5e-153 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159199
AA Change: M280L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: M280L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
310 |
2.7e-151 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mutants have massive neuronal apoptosis, growth retardation, hypoplastic thymus and die by embryonic day 17.5. Lethality is rescued by Trp53 deficiency, but double knockout mice die from pro-B-cell lymphomas with Myc-Igh translocations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
A |
17: 65,141,326 (GRCm39) |
R65S |
unknown |
Het |
| Abcc6 |
A |
G |
7: 45,626,687 (GRCm39) |
S1457P |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,428,777 (GRCm39) |
D259G |
probably damaging |
Het |
| Atmin |
A |
G |
8: 117,683,327 (GRCm39) |
D329G |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,954 (GRCm39) |
I236V |
probably benign |
Het |
| Cdkal1 |
A |
G |
13: 30,034,007 (GRCm39) |
F29L |
probably benign |
Het |
| Chrng |
C |
T |
1: 87,139,202 (GRCm39) |
P518S |
probably benign |
Het |
| Cpa1 |
G |
T |
6: 30,641,847 (GRCm39) |
D224Y |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,895,365 (GRCm39) |
I1222V |
probably benign |
Het |
| Dnm1 |
A |
T |
2: 32,202,344 (GRCm39) |
S773T |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,706,368 (GRCm39) |
V419E |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,586,990 (GRCm39) |
V424E |
probably benign |
Het |
| Kdm6b |
C |
A |
11: 69,297,276 (GRCm39) |
G359* |
probably null |
Het |
| Krt84 |
A |
G |
15: 101,438,016 (GRCm39) |
|
probably null |
Het |
| Lig4 |
C |
A |
8: 10,022,325 (GRCm39) |
C485F |
probably damaging |
Het |
| Mpo |
T |
A |
11: 87,690,794 (GRCm39) |
W411R |
probably damaging |
Het |
| Mpv17l |
A |
G |
16: 13,759,149 (GRCm39) |
E8G |
probably benign |
Het |
| Mrps34 |
T |
C |
17: 25,114,451 (GRCm39) |
Y104H |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,562,007 (GRCm39) |
W148R |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,439,995 (GRCm39) |
D134G |
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,317,608 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,158,431 (GRCm39) |
S501P |
possibly damaging |
Het |
| Pwp1 |
C |
A |
10: 85,723,958 (GRCm39) |
S486R |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,557,171 (GRCm39) |
E1556G |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,698 (GRCm39) |
Q47R |
unknown |
Het |
| Siglece |
A |
G |
7: 43,307,055 (GRCm39) |
F311L |
probably benign |
Het |
| Slc27a3 |
A |
G |
3: 90,293,618 (GRCm39) |
L589P |
probably damaging |
Het |
| Spata31e2 |
A |
C |
1: 26,721,232 (GRCm39) |
L1316* |
probably null |
Het |
| Synrg |
T |
A |
11: 83,881,660 (GRCm39) |
M332K |
probably benign |
Het |
| Tasor2 |
T |
A |
13: 3,623,559 (GRCm39) |
R2130S |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,270,759 (GRCm39) |
N1183I |
probably damaging |
Het |
| Tmed11 |
A |
G |
5: 108,926,915 (GRCm39) |
I119T |
possibly damaging |
Het |
| Ttll3 |
C |
T |
6: 113,389,834 (GRCm39) |
R740W |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,161 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,418 (GRCm39) |
H179Y |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,384,825 (GRCm39) |
M298V |
possibly damaging |
Het |
|
| Other mutations in Xrcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01376:Xrcc4
|
APN |
13 |
90,210,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01486:Xrcc4
|
APN |
13 |
90,210,151 (GRCm39) |
nonsense |
probably null |
|
|
R0624:Xrcc4
|
UTSW |
13 |
90,140,594 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0629:Xrcc4
|
UTSW |
13 |
90,149,024 (GRCm39) |
splice site |
probably benign |
|
|
R1801:Xrcc4
|
UTSW |
13 |
90,140,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Xrcc4
|
UTSW |
13 |
90,210,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3055:Xrcc4
|
UTSW |
13 |
90,210,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3056:Xrcc4
|
UTSW |
13 |
90,210,196 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3941:Xrcc4
|
UTSW |
13 |
90,219,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4486:Xrcc4
|
UTSW |
13 |
90,140,707 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4556:Xrcc4
|
UTSW |
13 |
90,140,623 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4599:Xrcc4
|
UTSW |
13 |
90,210,126 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6057:Xrcc4
|
UTSW |
13 |
90,139,198 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6262:Xrcc4
|
UTSW |
13 |
89,926,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6597:Xrcc4
|
UTSW |
13 |
90,149,048 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9080:Xrcc4
|
UTSW |
13 |
90,149,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Xrcc4
|
UTSW |
13 |
90,089,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAAACCCTGTTCATAGTTTTGG -3'
(R):5'- TGTCTTTCATTGTGTGACTAATGCC -3'
Sequencing Primer
(F):5'- AACCGAGGAGCTCTAATC -3'
(R):5'- GTGACTAATGCCATTGTTTTTGAAGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation