Incidental Mutation 'IGL02142:Helq'
ID |
281618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Helq
|
Ensembl Gene |
ENSMUSG00000035266 |
Gene Name |
helicase, POLQ-like |
Synonyms |
Hel308, D430018E21Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02142
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100930960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 597
(F597L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
[ENSMUST00000151201]
|
AlphaFold |
Q2VPA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: F597L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000041599 Gene: ENSMUSG00000035266 AA Change: F597L
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: F595L
|
SMART Domains |
Protein: ENSMUSP00000116470 Gene: ENSMUSG00000035266 AA Change: F595L
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 |
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: ENSMUST00000152554
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198409
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,963,575 (GRCm39) |
S2060P |
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,189,014 (GRCm39) |
F426S |
probably benign |
Het |
Actn1 |
C |
T |
12: 80,222,929 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
T |
A |
5: 129,208,648 (GRCm39) |
H251Q |
probably benign |
Het |
Adgrg3 |
C |
T |
8: 95,766,483 (GRCm39) |
P385S |
probably damaging |
Het |
Ampd2 |
G |
T |
3: 107,987,660 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,155,360 (GRCm39) |
S86P |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,123 (GRCm39) |
E121K |
probably null |
Het |
Atad5 |
G |
A |
11: 79,985,023 (GRCm39) |
E37K |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,053,315 (GRCm39) |
V1084A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,241,507 (GRCm39) |
I626T |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,945,440 (GRCm39) |
|
probably null |
Het |
Defa22 |
T |
G |
8: 21,653,130 (GRCm39) |
C81G |
possibly damaging |
Het |
Dnm2 |
A |
G |
9: 21,411,649 (GRCm39) |
Y622C |
probably damaging |
Het |
Efna5 |
T |
A |
17: 62,914,340 (GRCm39) |
L201F |
unknown |
Het |
Elac1 |
T |
C |
18: 73,871,991 (GRCm39) |
R335G |
probably benign |
Het |
Enpp5 |
T |
C |
17: 44,396,468 (GRCm39) |
V460A |
probably benign |
Het |
Esr2 |
A |
G |
12: 76,169,969 (GRCm39) |
V453A |
probably benign |
Het |
Fam210b |
T |
A |
2: 172,194,497 (GRCm39) |
|
probably benign |
Het |
Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
Fcrlb |
A |
G |
1: 170,736,248 (GRCm39) |
V176A |
probably damaging |
Het |
Gabrq |
T |
A |
X: 71,879,783 (GRCm39) |
V256E |
possibly damaging |
Het |
Gba1 |
T |
C |
3: 89,113,148 (GRCm39) |
L193P |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Hrh1 |
A |
T |
6: 114,457,204 (GRCm39) |
I162L |
probably damaging |
Het |
Jph1 |
A |
T |
1: 17,161,884 (GRCm39) |
F259L |
probably damaging |
Het |
Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
Kdm4c |
T |
A |
4: 74,225,253 (GRCm39) |
|
probably null |
Het |
Kif13a |
T |
C |
13: 46,925,011 (GRCm39) |
T308A |
probably benign |
Het |
Lars1 |
C |
T |
18: 42,360,345 (GRCm39) |
V704M |
probably benign |
Het |
Lcmt2 |
A |
G |
2: 120,969,394 (GRCm39) |
L343P |
possibly damaging |
Het |
Lhfpl1 |
A |
G |
X: 144,123,733 (GRCm39) |
F125L |
probably benign |
Het |
Lmbrd2 |
C |
A |
15: 9,186,772 (GRCm39) |
D582E |
probably damaging |
Het |
Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,365,842 (GRCm39) |
D1408G |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,923,219 (GRCm39) |
K1166R |
probably benign |
Het |
Marchf5 |
T |
C |
19: 37,197,892 (GRCm39) |
|
probably benign |
Het |
Ms4a20 |
G |
A |
19: 11,087,695 (GRCm39) |
Q79* |
probably null |
Het |
Naa25 |
A |
G |
5: 121,564,825 (GRCm39) |
Q555R |
possibly damaging |
Het |
Npat |
A |
G |
9: 53,481,207 (GRCm39) |
T1005A |
probably benign |
Het |
Nt5c3 |
G |
A |
6: 56,863,670 (GRCm39) |
A108V |
probably damaging |
Het |
Ocrl |
T |
A |
X: 47,024,995 (GRCm39) |
M322K |
probably damaging |
Het |
Odad2 |
C |
A |
18: 7,214,601 (GRCm39) |
W733C |
probably damaging |
Het |
Or8g2 |
A |
G |
9: 39,821,935 (GRCm39) |
T279A |
possibly damaging |
Het |
Psg23 |
A |
T |
7: 18,344,345 (GRCm39) |
V370E |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,838,353 (GRCm39) |
M311K |
possibly damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,025,614 (GRCm39) |
Y501H |
probably damaging |
Het |
Rpl4 |
A |
G |
9: 64,083,488 (GRCm39) |
D179G |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,546,182 (GRCm39) |
I915N |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,356,965 (GRCm39) |
T160S |
possibly damaging |
Het |
Slx4ip |
T |
G |
2: 136,909,942 (GRCm39) |
N242K |
possibly damaging |
Het |
Spidr |
T |
A |
16: 15,865,945 (GRCm39) |
Q288L |
probably benign |
Het |
Sun1 |
A |
T |
5: 139,216,918 (GRCm39) |
H255L |
possibly damaging |
Het |
Tacc1 |
C |
T |
8: 25,665,233 (GRCm39) |
G51S |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,185,900 (GRCm39) |
N1179I |
possibly damaging |
Het |
Tgfbrap1 |
T |
C |
1: 43,101,752 (GRCm39) |
Y349C |
probably damaging |
Het |
Tnrc6a |
T |
C |
7: 122,751,414 (GRCm39) |
|
probably benign |
Het |
Trim32 |
T |
C |
4: 65,532,736 (GRCm39) |
L431P |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,656,334 (GRCm39) |
L112S |
probably damaging |
Het |
Vmn2r100 |
A |
C |
17: 19,742,583 (GRCm39) |
H319P |
probably damaging |
Het |
Wdr20rt |
A |
G |
12: 65,274,039 (GRCm39) |
T328A |
probably benign |
Het |
Zbtb17 |
T |
C |
4: 141,192,293 (GRCm39) |
Y413H |
probably benign |
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 |
|
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 |
R5608:Helq
|
UTSW |
5 |
100,938,085 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |