Incidental Mutation 'R9223:Helq'
| ID |
699589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Helq
|
| Ensembl Gene |
ENSMUSG00000035266 |
| Gene Name |
helicase, POLQ-like |
| Synonyms |
Hel308, D430018E21Rik |
| MMRRC Submission |
068959-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
100910011-100946464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100946303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 13
(S13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016977]
[ENSMUST00000044684]
[ENSMUST00000112898]
[ENSMUST00000112901]
[ENSMUST00000151201]
[ENSMUST00000198453]
|
| AlphaFold |
Q2VPA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016977
|
| SMART Domains |
Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
70 |
121 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044684
AA Change: S13T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: S13T
| 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 |
probably benign
Transcript: ENSMUST00000112898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112901
|
| SMART Domains |
Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
67 |
119 |
9.6e-25 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: S11T
| 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 |
possibly damaging
Transcript: ENSMUST00000151201
AA Change: S13T
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118493
Gene: ENSMUSG00000035266
AA Change: S13T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198453
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
C |
A |
9: 101,820,193 (GRCm39) |
D204E |
possibly damaging |
Het |
| Aldh3a2 |
A |
G |
11: 61,156,037 (GRCm39) |
S80P |
probably benign |
Het |
| Bcl6b |
A |
T |
11: 70,117,400 (GRCm39) |
Y407* |
probably null |
Het |
| Ccn2 |
T |
C |
10: 24,471,856 (GRCm39) |
V49A |
probably benign |
Het |
| Cel |
TTA |
TTATA |
2: 28,449,441 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
T |
2: 79,171,674 (GRCm39) |
C395S |
probably damaging |
Het |
| Chst5 |
C |
A |
8: 112,617,492 (GRCm39) |
V43L |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,784,337 (GRCm39) |
F271I |
probably damaging |
Het |
| Clspn |
A |
G |
4: 126,484,411 (GRCm39) |
T1190A |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,648,528 (GRCm39) |
E938D |
probably damaging |
Het |
| Dmrta2 |
G |
A |
4: 109,839,779 (GRCm39) |
V509M |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,361,420 (GRCm39) |
M3440K |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,029,184 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
G |
7: 130,927,869 (GRCm39) |
S107P |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,149,358 (GRCm39) |
I708N |
probably benign |
Het |
| Fbxo11 |
A |
T |
17: 88,323,124 (GRCm39) |
D12E |
|
Het |
| Fbxw13 |
T |
C |
9: 109,024,116 (GRCm39) |
D39G |
probably damaging |
Het |
| Gabrb3 |
T |
G |
7: 57,466,152 (GRCm39) |
L322R |
probably damaging |
Het |
| Gm5239 |
A |
T |
18: 35,669,672 (GRCm39) |
I13F |
possibly damaging |
Het |
| Heatr1 |
A |
G |
13: 12,419,802 (GRCm39) |
Y375C |
probably benign |
Het |
| Helz |
A |
G |
11: 107,509,918 (GRCm39) |
T514A |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,522,552 (GRCm39) |
V32A |
|
Het |
| Htra4 |
A |
G |
8: 25,527,048 (GRCm39) |
I249T |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,062,692 (GRCm39) |
V2809L |
probably benign |
Het |
| Ifi203 |
T |
A |
1: 173,765,437 (GRCm39) |
I46F |
probably benign |
Het |
| Kcna2 |
A |
T |
3: 107,012,306 (GRCm39) |
I296F |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,357 (GRCm39) |
E882G |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,071 (GRCm39) |
D444E |
probably benign |
Het |
| Lrrtm3 |
ATTTT |
ATTTTT |
10: 63,925,035 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
C |
T |
12: 66,615,634 (GRCm39) |
D658N |
possibly damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,183 (GRCm39) |
K316R |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,553,666 (GRCm39) |
C165Y |
probably damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,867 (GRCm39) |
F1843L |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,220,093 (GRCm39) |
R338Q |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,364,184 (GRCm39) |
R372H |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,202,599 (GRCm39) |
S1461Y |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,814,738 (GRCm39) |
V282D |
possibly damaging |
Het |
| Nup98 |
C |
A |
7: 101,834,167 (GRCm39) |
G265V |
possibly damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,911 (GRCm39) |
F260S |
probably damaging |
Het |
| Or2d3b |
A |
G |
7: 106,513,980 (GRCm39) |
T192A |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,442,012 (GRCm39) |
E24K |
possibly damaging |
Het |
| Or4f58 |
T |
A |
2: 111,851,517 (GRCm39) |
K227N |
possibly damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,473 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or8k18 |
G |
T |
2: 86,085,544 (GRCm39) |
F164L |
possibly damaging |
Het |
| Otogl |
T |
A |
10: 107,690,205 (GRCm39) |
E888D |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,948,685 (GRCm39) |
I34V |
possibly damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,807,376 (GRCm39) |
R417G |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,778 (GRCm39) |
S311G |
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,812 (GRCm39) |
V105A |
probably benign |
Het |
| Serpina3f |
A |
G |
12: 104,183,444 (GRCm39) |
D102G |
possibly damaging |
Het |
| Sik3 |
A |
G |
9: 46,066,772 (GRCm39) |
I184V |
probably damaging |
Het |
| Spopfm2 |
A |
C |
3: 94,082,950 (GRCm39) |
L287R |
probably damaging |
Het |
| Tex35 |
A |
T |
1: 156,935,436 (GRCm39) |
C21S |
probably benign |
Het |
| Tfap2b |
T |
C |
1: 19,282,649 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
C |
T |
13: 92,897,998 (GRCm39) |
C607Y |
probably damaging |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,963,166 (GRCm39) |
M395K |
probably benign |
Het |
| Trim43b |
A |
C |
9: 88,967,663 (GRCm39) |
H324Q |
probably benign |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,141 (GRCm39) |
Y625F |
probably damaging |
Het |
| Yipf3 |
A |
T |
17: 46,559,798 (GRCm39) |
N38I |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,821,496 (GRCm39) |
E522D |
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 |
|
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 |
|
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'- AAGAAGGCGGTTTCACCTCC -3'
(R):5'- GGGTTTCAATGCACTGCAC -3'
Sequencing Primer
(F):5'- CGAGTCAACGGGGATGC -3'
(R):5'- GGTTTCAATGCACTGCACCTTTATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation