Mutagenetix > Incidental Mutation

Incidental Mutation 'R3735:Helq'

270058

Institutional Source

Beutler Lab

Gene Symbol

Helq

Ensembl Gene

ENSMUSG00000035266

Gene Name

helicase, POLQ-like

Synonyms

Hel308, D430018E21Rik

MMRRC Submission

040722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100910011-100946464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100938054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 464 (D464A)

Ref Sequence

ENSEMBL: ENSMUSP00000041599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044684] [ENSMUST00000151201]

AlphaFold

Q2VPA6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044684
AA Change: D464A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: D464A

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: D462A

SMART Domains

Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: D462A

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

0.6378

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	G	4: 103,123,603 (GRCm39)	E90Q	probably damaging	Het
Acadl	G	A	1: 66,892,448 (GRCm39)	A125V	probably benign	Het
Acot12	T	A	13: 91,932,465 (GRCm39)	I487N	probably benign	Het
Acox3	A	G	5: 35,768,497 (GRCm39)	K686R	probably benign	Het
Adam17	T	C	12: 21,375,413 (GRCm39)	D802G	probably benign	Het
Aoc3	A	T	11: 101,223,045 (GRCm39)	D427V	probably damaging	Het
Bivm	C	T	1: 44,165,594 (GRCm39)	H15Y	probably benign	Het
C8a	T	C	4: 104,674,812 (GRCm39)	E509G	probably benign	Het
Ccdc158	A	C	5: 92,780,283 (GRCm39)	L930R	possibly damaging	Het
Cdca7	T	A	2: 72,314,209 (GRCm39)		probably null	Het
Cep170b	A	T	12: 112,707,438 (GRCm39)	I395F	probably damaging	Het
Champ1	T	C	8: 13,928,735 (GRCm39)	S298P	probably damaging	Het
Cimip2c	A	T	5: 30,639,442 (GRCm39)	Y123F	probably benign	Het
Cyp2j8	T	A	4: 96,332,836 (GRCm39)	R503S	probably damaging	Het
Dcaf10	C	T	4: 45,348,117 (GRCm39)	T191I	probably benign	Het
Dido1	A	G	2: 180,325,829 (GRCm39)		probably benign	Het
Dnah7b	C	T	1: 46,339,035 (GRCm39)	T3361I	probably benign	Het
Dync1h1	G	A	12: 110,598,109 (GRCm39)	V1767I	probably benign	Het
Eml5	G	A	12: 98,822,248 (GRCm39)	T721I	possibly damaging	Het
F8	G	A	X: 74,254,981 (GRCm39)	P2138S	probably damaging	Het
Fam169b	G	T	7: 68,000,049 (GRCm39)	R198S	probably damaging	Het
Gm7694	A	G	1: 170,130,330 (GRCm39)	S23P	probably damaging	Het
Grk3	T	A	5: 113,101,697 (GRCm39)	T248S	probably benign	Het
Ido2	C	T	8: 25,025,209 (GRCm39)	V273M	probably damaging	Het
Il12rb1	T	C	8: 71,269,862 (GRCm39)	L518P	probably damaging	Het
Irag2	G	A	6: 145,106,596 (GRCm39)		probably benign	Het
Kansl1l	A	G	1: 66,840,409 (GRCm39)	V297A	possibly damaging	Het
Kcnj10	A	G	1: 172,197,533 (GRCm39)	Y349C	possibly damaging	Het
Krt18	A	G	15: 101,936,936 (GRCm39)	T75A	probably benign	Het
Lrp4	A	T	2: 91,328,716 (GRCm39)	I1539F	probably damaging	Het
Map3k6	T	C	4: 132,973,683 (GRCm39)	V458A	probably benign	Het
Med12l	T	A	3: 58,998,916 (GRCm39)	H614Q	probably damaging	Het
Med13	A	C	11: 86,170,484 (GRCm39)	M1850R	probably benign	Het
Mfsd13a	A	G	19: 46,356,767 (GRCm39)	Y256C	probably damaging	Het
Mogs	C	A	6: 83,093,757 (GRCm39)	T242K	possibly damaging	Het
Myo9b	T	C	8: 71,801,241 (GRCm39)	V1133A	probably benign	Het
Myom2	A	T	8: 15,119,676 (GRCm39)	H144L	probably benign	Het
Ncapg	A	T	5: 45,853,469 (GRCm39)	Q906L	probably benign	Het
Nkx1-1	C	T	5: 33,591,074 (GRCm39)	V83I	unknown	Het
Npy4r	T	A	14: 33,869,226 (GRCm39)	T21S	probably benign	Het
Nup88	A	G	11: 70,847,018 (GRCm39)	S331P	probably damaging	Het
Olr1	T	A	6: 129,476,838 (GRCm39)		probably benign	Het
Or4k44	T	A	2: 111,368,241 (GRCm39)	H131L	probably damaging	Het
Osmr	A	T	15: 6,851,561 (GRCm39)	Y656N	probably damaging	Het
Otogl	A	T	10: 107,735,390 (GRCm39)	Y131*	probably null	Het
Pgr	G	A	9: 8,901,534 (GRCm39)	G356S	probably damaging	Het
Prdm2	T	C	4: 142,860,929 (GRCm39)	E787G	probably damaging	Het
Prpf18	A	G	2: 4,648,484 (GRCm39)	I114T	probably benign	Het
R3hdm2	T	A	10: 127,300,879 (GRCm39)	I280N	probably benign	Het
Rims4	T	C	2: 163,705,905 (GRCm39)	D243G	possibly damaging	Het
Rmnd5a	T	C	6: 71,373,846 (GRCm39)	D316G	possibly damaging	Het
Rpap2	T	C	5: 107,803,017 (GRCm39)		probably benign	Het
Sdr16c5	G	A	4: 4,005,614 (GRCm39)	T240I	probably benign	Het
Shroom3	T	C	5: 93,112,303 (GRCm39)	V1888A	possibly damaging	Het
Slc36a4	T	A	9: 15,649,569 (GRCm39)	Y466*	probably null	Het
Slco3a1	A	G	7: 74,154,245 (GRCm39)	I80T	probably damaging	Het
Sptlc2	G	A	12: 87,388,339 (GRCm39)	A381V	probably benign	Het
Stam	A	T	2: 14,133,823 (GRCm39)	Q190L	probably damaging	Het
Suclg2	T	A	6: 95,474,677 (GRCm39)	I363F	probably damaging	Het
Tacstd2	A	G	6: 67,511,843 (GRCm39)	V283A	probably damaging	Het
Tln1	G	T	4: 43,549,370 (GRCm39)	A616E	probably damaging	Het
Trdmt1	A	T	2: 13,524,684 (GRCm39)	F257Y	possibly damaging	Het
Trip12	TATACATACATACATACATACATACATACATAC	TATACATACATACATACATACATACATACATACATAC	1: 84,792,511 (GRCm39)		probably null	Het
Trps1	A	G	15: 50,709,456 (GRCm39)	I298T	possibly damaging	Het
Tti2	T	C	8: 31,645,925 (GRCm39)	L413P	probably damaging	Het
Utrn	A	G	10: 12,354,228 (GRCm39)	V343A	probably damaging	Het
Vwf	G	T	6: 125,565,576 (GRCm39)	W288L	probably damaging	Het
Zfp629	T	A	7: 127,211,950 (GRCm39)		probably benign	Het
Zfp873	G	A	10: 81,897,015 (GRCm39)	S582N	probably benign	Het
Zfp979	A	G	4: 147,697,939 (GRCm39)	Y257H	possibly damaging	Het
Zfpm1	G	A	8: 123,050,475 (GRCm39)	C117Y	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TACAGGTAGGTCGAGTGAGC -3'
(R):5'- GTCAGACTTTGGTCACTTCAAGATC -3'

Sequencing Primer
(F):5'- TAGGTCGAGTGAGCCACGC -3'
(R):5'- CCAATCTGATAAAAGTCCCAAATGTG -3'

Posted On

2015-03-18