Incidental Mutation 'R5608:Helq'
ID |
439381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Helq
|
Ensembl Gene |
ENSMUSG00000035266 |
Gene Name |
helicase, POLQ-like |
Synonyms |
Hel308, D430018E21Rik |
MMRRC Submission |
043272-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5608 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100938085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 454
(G454S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
[ENSMUST00000151201]
|
AlphaFold |
Q2VPA6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044684
AA Change: G454S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041599 Gene: ENSMUSG00000035266 AA Change: G454S
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
DEXDc
|
291 |
486 |
3.05e-17 |
SMART |
HELICc
|
585 |
671 |
2.54e-14 |
SMART |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000133845
AA Change: G452S
|
SMART Domains |
Protein: ENSMUSP00000116470 Gene: ENSMUSG00000035266 AA Change: G452S
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
DEXDc
|
290 |
485 |
3.05e-17 |
SMART |
HELICc
|
584 |
670 |
2.54e-14 |
SMART |
low complexity region
|
811 |
826 |
N/A |
INTRINSIC |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144948
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151201
|
SMART Domains |
Protein: ENSMUSP00000118493 Gene: ENSMUSG00000035266
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198409
|
Meta Mutation Damage Score |
0.4172 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (54/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced fertility and increased incident of tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
Arfgap2 |
G |
A |
2: 91,100,547 (GRCm39) |
R298H |
probably damaging |
Het |
Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
Dpysl4 |
T |
C |
7: 138,678,459 (GRCm39) |
V473A |
probably damaging |
Het |
Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
Rnf157 |
A |
T |
11: 116,287,146 (GRCm39) |
|
probably null |
Het |
Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
Other mutations in Helq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00926:Helq
|
APN |
5 |
100,912,948 (GRCm39) |
unclassified |
probably benign |
|
IGL02142:Helq
|
APN |
5 |
100,930,960 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02172:Helq
|
APN |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02234:Helq
|
APN |
5 |
100,944,336 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03086:Helq
|
APN |
5 |
100,944,793 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0083:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
R0108:Helq
|
UTSW |
5 |
100,916,234 (GRCm39) |
nonsense |
probably null |
|
R0276:Helq
|
UTSW |
5 |
100,938,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R0359:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
R0383:Helq
|
UTSW |
5 |
100,927,031 (GRCm39) |
missense |
probably benign |
0.28 |
R0554:Helq
|
UTSW |
5 |
100,938,066 (GRCm39) |
missense |
probably benign |
0.01 |
R1289:Helq
|
UTSW |
5 |
100,944,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Helq
|
UTSW |
5 |
100,940,679 (GRCm39) |
missense |
probably benign |
0.41 |
R1800:Helq
|
UTSW |
5 |
100,921,990 (GRCm39) |
missense |
probably benign |
0.34 |
R1809:Helq
|
UTSW |
5 |
100,921,820 (GRCm39) |
missense |
probably damaging |
0.97 |
R1838:Helq
|
UTSW |
5 |
100,919,745 (GRCm39) |
nonsense |
probably null |
|
R3086:Helq
|
UTSW |
5 |
100,921,858 (GRCm39) |
missense |
probably benign |
|
R3439:Helq
|
UTSW |
5 |
100,946,170 (GRCm39) |
missense |
probably damaging |
0.97 |
R3735:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
R3736:Helq
|
UTSW |
5 |
100,938,054 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4172:Helq
|
UTSW |
5 |
100,919,713 (GRCm39) |
missense |
probably benign |
0.03 |
R4835:Helq
|
UTSW |
5 |
100,922,029 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4855:Helq
|
UTSW |
5 |
100,931,025 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4908:Helq
|
UTSW |
5 |
100,910,507 (GRCm39) |
splice site |
probably null |
|
R4973:Helq
|
UTSW |
5 |
100,940,737 (GRCm39) |
intron |
probably benign |
|
R5561:Helq
|
UTSW |
5 |
100,934,916 (GRCm39) |
missense |
probably benign |
0.06 |
R5583:Helq
|
UTSW |
5 |
100,910,459 (GRCm39) |
missense |
probably damaging |
0.99 |
R5682:Helq
|
UTSW |
5 |
100,933,170 (GRCm39) |
missense |
probably benign |
0.04 |
R5875:Helq
|
UTSW |
5 |
100,944,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Helq
|
UTSW |
5 |
100,946,305 (GRCm39) |
missense |
probably damaging |
0.96 |
R6344:Helq
|
UTSW |
5 |
100,914,594 (GRCm39) |
missense |
probably benign |
0.27 |
R6446:Helq
|
UTSW |
5 |
100,916,250 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6825:Helq
|
UTSW |
5 |
100,940,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7260:Helq
|
UTSW |
5 |
100,939,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Helq
|
UTSW |
5 |
100,931,051 (GRCm39) |
frame shift |
probably null |
|
R7535:Helq
|
UTSW |
5 |
100,937,999 (GRCm39) |
splice site |
probably null |
|
R7889:Helq
|
UTSW |
5 |
100,940,427 (GRCm39) |
splice site |
probably null |
|
R8243:Helq
|
UTSW |
5 |
100,918,348 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8720:Helq
|
UTSW |
5 |
100,914,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R9004:Helq
|
UTSW |
5 |
100,926,598 (GRCm39) |
unclassified |
probably benign |
|
R9152:Helq
|
UTSW |
5 |
100,918,325 (GRCm39) |
missense |
probably benign |
0.00 |
R9209:Helq
|
UTSW |
5 |
100,939,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R9209:Helq
|
UTSW |
5 |
100,939,218 (GRCm39) |
missense |
probably benign |
0.44 |
R9223:Helq
|
UTSW |
5 |
100,946,303 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9301:Helq
|
UTSW |
5 |
100,927,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9689:Helq
|
UTSW |
5 |
100,934,927 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Helq
|
UTSW |
5 |
100,914,632 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTCAGCAGTCTTACAGTACTCC -3'
(R):5'- GGTCAGACTTTGGTCACTTCAAG -3'
Sequencing Primer
(F):5'- ACAGTACTCCATGCTCGCCG -3'
(R):5'- AGACTTTGGTCACTTCAAGATCTTC -3'
|
Posted On |
2016-10-26 |