Incidental Mutation 'IGL01486:Xrcc4'
| ID |
88751 |
| 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 # |
IGL01486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
89997033-90237727 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 90210151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 98
(E98*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022115]
[ENSMUST00000159199]
[ENSMUST00000160232]
[ENSMUST00000161396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022115
AA Change: E98*
|
| SMART Domains |
Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: E98*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
326 |
1.5e-153 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159199
AA Change: E98*
|
| SMART Domains |
Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: E98*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
310 |
2.7e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160232
|
| SMART Domains |
Protein: ENSMUSP00000125486
Gene: ENSMUSG00000021615
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
| Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,453,113 (GRCm39) |
K235E |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
| Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
| Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
| Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
| Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-11-18 |
Incidental Mutation