Incidental Mutation 'IGL01376:Xrcc4'
ID |
78728 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Xrcc4
|
Ensembl Gene |
ENSMUSG00000021615 |
Gene Name |
X-ray repair complementing defective repair in Chinese hamster cells 4 |
Synonyms |
2310057B22Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
IGL01376
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
89997033-90237727 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90210169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 92
(S92T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125486
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022115]
[ENSMUST00000159199]
[ENSMUST00000160232]
[ENSMUST00000161396]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022115
AA Change: S92T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022115 Gene: ENSMUSG00000021615 AA Change: S92T
Domain | Start | End | E-Value | Type |
Pfam:XRCC4
|
1 |
326 |
1.5e-153 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159199
AA Change: S92T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123934 Gene: ENSMUSG00000021615 AA Change: S92T
Domain | Start | End | E-Value | Type |
Pfam:XRCC4
|
1 |
310 |
2.7e-151 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160232
AA Change: S92T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000125486 Gene: ENSMUSG00000021615 AA Change: S92T
Domain | Start | End | E-Value | Type |
Pfam:XRCC4
|
1 |
94 |
4.8e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161396
|
SMART Domains |
Protein: ENSMUSP00000124573 Gene: ENSMUSG00000021615
Domain | Start | End | E-Value | Type |
Pfam:XRCC4
|
1 |
83 |
5.4e-45 |
PFAM |
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
|
Other mutations in Xrcc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R9535:Xrcc4
|
UTSW |
13 |
90,089,118 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Xrcc4
|
UTSW |
13 |
90,089,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |