Incidental Mutation 'R4172:Helq'
| ID |
318172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
044391-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100919713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 813
(K813E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044684]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044684
AA Change: K813E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: K813E
| 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: K811E
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: K811E
| 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: ENSMUST00000135102
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155362
AA Change: K46E
|
| SMART Domains |
Protein: ENSMUSP00000120806
Gene: ENSMUSG00000035266
AA Change: K46E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
| Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
| Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
| Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
| Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
| Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
| Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
| Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
| Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCACGTGACAAAGTCCAG -3'
(R):5'- TGTCCCTTAACGCTGAGGAAAC -3'
Sequencing Primer
(F):5'- CGTGACAAAGTCCAGAGAAGTCTC -3'
(R):5'- AATTCAAACTAATCCGAACTGGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation