Incidental Mutation 'R3056:Xrcc4'
| ID |
265186 |
| 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 |
040565-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.392)
|
| Stock # |
R3056 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
89997033-90237727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90210196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 83
(T83A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124573
(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: T83A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
326 |
1.5e-153 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159199
AA Change: T83A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
310 |
2.7e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160232
AA Change: T83A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125486
Gene: ENSMUSG00000021615
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
94 |
4.8e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161396
AA Change: T83A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124573
Gene: ENSMUSG00000021615
AA Change: T83A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
83 |
5.4e-45 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,127,626 (GRCm39) |
M131K |
probably benign |
Het |
| Agbl1 |
C |
T |
7: 76,416,232 (GRCm39) |
T751M |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,636,146 (GRCm39) |
I510V |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,769,355 (GRCm39) |
I187T |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,280,491 (GRCm39) |
S2805P |
unknown |
Het |
| Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,307,869 (GRCm39) |
D3061G |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 87,138,409 (GRCm39) |
F835S |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpatch11 |
A |
G |
17: 79,151,272 (GRCm39) |
T228A |
probably damaging |
Het |
| Greb1 |
G |
T |
12: 16,738,592 (GRCm39) |
T1457K |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Lmx1b |
G |
A |
2: 33,457,297 (GRCm39) |
Q168* |
probably null |
Het |
| Ltbp3 |
C |
A |
19: 5,801,434 (GRCm39) |
N659K |
probably benign |
Het |
| Micos13 |
A |
G |
17: 56,915,889 (GRCm39) |
F55S |
probably damaging |
Het |
| Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,860 (GRCm39) |
N825S |
possibly damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,583 (GRCm39) |
T48S |
probably benign |
Het |
| Or5p67 |
A |
T |
7: 107,922,757 (GRCm39) |
V42E |
possibly damaging |
Het |
| Or8k3b |
C |
A |
2: 86,520,896 (GRCm39) |
C141F |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,912,250 (GRCm39) |
R79Q |
probably damaging |
Het |
| Peg10 |
G |
A |
6: 4,755,029 (GRCm39) |
R270H |
possibly damaging |
Het |
| Pttg1ip2 |
A |
T |
5: 5,507,283 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tmem92 |
C |
T |
11: 94,669,873 (GRCm39) |
C86Y |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,011,895 (GRCm39) |
|
probably null |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,344 (GRCm39) |
C1433* |
probably null |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,360 (GRCm39) |
Y405F |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATGACCATCACACATGTG -3'
(R):5'- AACGGGGTGCTTAACTAAGG -3'
Sequencing Primer
(F):5'- TGTGATGCAGCACACATACACAG -3'
(R):5'- CCTTCAAATTTCTGTTACATTGGTAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation