Incidental Mutation 'R5952:Gen1'
| ID |
470964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gen1
|
| Ensembl Gene |
ENSMUSG00000051235 |
| Gene Name |
GEN1, Holliday junction 5' flap endonuclease |
| Synonyms |
5830483C08Rik |
| MMRRC Submission |
044142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5952 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
11288921-11315802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11310897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 112
(S112T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020931]
[ENSMUST00000166117]
[ENSMUST00000218259]
[ENSMUST00000218487]
[ENSMUST00000218547]
[ENSMUST00000219600]
|
| AlphaFold |
Q8BMI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020931
|
| SMART Domains |
Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_N
|
53 |
1077 |
4.7e-17 |
PFAM |
|
Pfam:AAA_15
|
54 |
438 |
3.1e-9 |
PFAM |
|
Pfam:AAA_23
|
56 |
398 |
5e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166117
AA Change: S112T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: S112T
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
96 |
9.13e-22 |
SMART |
|
XPGI
|
122 |
193 |
5.32e-23 |
SMART |
|
HhH2
|
195 |
229 |
2.87e-5 |
SMART |
|
low complexity region
|
704 |
713 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218262
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218487
AA Change: S47T
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218547
AA Change: S47T
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219600
AA Change: S112T
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1753 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
91% (62/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
| Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
| Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
| Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
| Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
| Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
| Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
| Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
| Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
| Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
| Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
| Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
| Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
| Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
| Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
| Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
probably damaging |
Het |
|
| Other mutations in Gen1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Gen1
|
APN |
12 |
11,311,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Gen1
|
APN |
12 |
11,306,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Gen1
|
APN |
12 |
11,305,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01766:Gen1
|
APN |
12 |
11,306,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Gen1
|
APN |
12 |
11,291,867 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02191:Gen1
|
APN |
12 |
11,292,297 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02452:Gen1
|
APN |
12 |
11,292,576 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02479:Gen1
|
APN |
12 |
11,291,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02690:Gen1
|
APN |
12 |
11,291,576 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03095:Gen1
|
APN |
12 |
11,298,265 (GRCm39) |
missense |
probably benign |
0.38 |
|
PIT4520001:Gen1
|
UTSW |
12 |
11,291,509 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0014:Gen1
|
UTSW |
12 |
11,291,642 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0014:Gen1
|
UTSW |
12 |
11,291,642 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0355:Gen1
|
UTSW |
12 |
11,298,355 (GRCm39) |
splice site |
probably benign |
|
|
R0680:Gen1
|
UTSW |
12 |
11,291,870 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0891:Gen1
|
UTSW |
12 |
11,298,355 (GRCm39) |
splice site |
probably benign |
|
|
R1192:Gen1
|
UTSW |
12 |
11,305,219 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1353:Gen1
|
UTSW |
12 |
11,293,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1833:Gen1
|
UTSW |
12 |
11,298,352 (GRCm39) |
splice site |
probably benign |
|
|
R1898:Gen1
|
UTSW |
12 |
11,291,609 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2138:Gen1
|
UTSW |
12 |
11,291,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Gen1
|
UTSW |
12 |
11,311,041 (GRCm39) |
missense |
probably null |
0.95 |
|
R2409:Gen1
|
UTSW |
12 |
11,299,165 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2876:Gen1
|
UTSW |
12 |
11,292,069 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3815:Gen1
|
UTSW |
12 |
11,302,034 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4402:Gen1
|
UTSW |
12 |
11,292,363 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4572:Gen1
|
UTSW |
12 |
11,292,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4900:Gen1
|
UTSW |
12 |
11,291,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Gen1
|
UTSW |
12 |
11,296,347 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6785:Gen1
|
UTSW |
12 |
11,312,531 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6869:Gen1
|
UTSW |
12 |
11,291,442 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7057:Gen1
|
UTSW |
12 |
11,292,419 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7155:Gen1
|
UTSW |
12 |
11,291,833 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7260:Gen1
|
UTSW |
12 |
11,306,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7316:Gen1
|
UTSW |
12 |
11,291,470 (GRCm39) |
missense |
probably benign |
|
|
R7512:Gen1
|
UTSW |
12 |
11,310,977 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7692:Gen1
|
UTSW |
12 |
11,292,167 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7800:Gen1
|
UTSW |
12 |
11,291,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Gen1
|
UTSW |
12 |
11,311,077 (GRCm39) |
splice site |
probably benign |
|
|
R8112:Gen1
|
UTSW |
12 |
11,304,374 (GRCm39) |
nonsense |
probably null |
|
|
R8147:Gen1
|
UTSW |
12 |
11,305,051 (GRCm39) |
splice site |
probably null |
|
|
R8152:Gen1
|
UTSW |
12 |
11,293,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8153:Gen1
|
UTSW |
12 |
11,310,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Gen1
|
UTSW |
12 |
11,291,465 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8942:Gen1
|
UTSW |
12 |
11,292,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9004:Gen1
|
UTSW |
12 |
11,305,022 (GRCm39) |
intron |
probably benign |
|
|
R9183:Gen1
|
UTSW |
12 |
11,299,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Gen1
|
UTSW |
12 |
11,311,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Gen1
|
UTSW |
12 |
11,291,309 (GRCm39) |
nonsense |
probably null |
|
|
R9482:Gen1
|
UTSW |
12 |
11,305,186 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGCAGACACATTTCTCAAGC -3'
(R):5'- CGCATGAACAGTGTTTAAACCTAG -3'
Sequencing Primer
(F):5'- ACTGCGGAGTATTACTATGTCC -3'
(R):5'- ACCTAGTATTTTGTACTCCTATTGGG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation