Incidental Mutation 'R4556:Xrcc4'
| ID |
341880 |
| 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 |
041597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R4556 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
89997033-90237727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90140623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 195
(H195Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123934
(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: H195Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022115
Gene: ENSMUSG00000021615
AA Change: H195Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
326 |
1.5e-153 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159199
AA Change: H195Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000123934
Gene: ENSMUSG00000021615
AA Change: H195Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XRCC4
|
1 |
310 |
2.7e-151 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,157,549 (GRCm39) |
S1601P |
probably damaging |
Het |
| Erc2 |
A |
C |
14: 28,024,861 (GRCm39) |
D580A |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
| Fbxo42 |
T |
A |
4: 140,926,321 (GRCm39) |
H334Q |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,782 (GRCm39) |
R24G |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,612,816 (GRCm39) |
R1200L |
possibly damaging |
Het |
| Lxn |
T |
A |
3: 67,365,953 (GRCm39) |
I182F |
possibly damaging |
Het |
| Mbd5 |
G |
A |
2: 49,169,406 (GRCm39) |
G1526R |
probably damaging |
Het |
| Mcub |
G |
A |
3: 129,709,384 (GRCm39) |
Q310* |
probably null |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Nktr |
A |
G |
9: 121,570,189 (GRCm39) |
T90A |
probably damaging |
Het |
| Nr1h5 |
G |
A |
3: 102,853,457 (GRCm39) |
A350V |
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,619 (GRCm39) |
L188P |
possibly damaging |
Het |
| Pros1 |
A |
G |
16: 62,721,036 (GRCm39) |
K197R |
possibly damaging |
Het |
| Rmnd5b |
G |
T |
11: 51,517,732 (GRCm39) |
|
probably null |
Het |
| Rnf25 |
A |
T |
1: 74,638,264 (GRCm39) |
I26N |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,272 (GRCm39) |
I1582V |
probably benign |
Het |
| Sh2d3c |
A |
G |
2: 32,643,021 (GRCm39) |
T583A |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,426 (GRCm39) |
Y587C |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,221,773 (GRCm39) |
S488G |
probably benign |
Het |
| Smim22 |
T |
A |
16: 4,825,730 (GRCm39) |
F38L |
possibly damaging |
Het |
| Stab2 |
T |
G |
10: 86,803,543 (GRCm39) |
E335D |
possibly damaging |
Het |
| Tas2r102 |
T |
C |
6: 132,739,878 (GRCm39) |
F262S |
probably damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,060,762 (GRCm39) |
F107S |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,034,953 (GRCm39) |
V66E |
possibly damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,804 (GRCm39) |
S67P |
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 |
|
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'- GCTAGAATGGCTAAACGACTACC -3'
(R):5'- TCCCTTGAGCATTATAACATTCCAGG -3'
Sequencing Primer
(F):5'- AGGCATTCTACTGAGAGC -3'
(R):5'- TGAGAAATGTGTGAGTGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation