Mutagenetix > Incidental Mutation

Incidental Mutation 'R7323:Helq'

568274

Institutional Source

Beutler Lab

Gene Symbol

Helq

Ensembl Gene

ENSMUSG00000035266

Gene Name

helicase, POLQ-like

Synonyms

Hel308, D430018E21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7323 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

100910011-100946464 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTTT to GTT at 100931051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041599 (fasta)

Gene Model

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

AlphaFold

Q2VPA6

Predicted Effect

probably null
Transcript: ENSMUST00000044684

SMART Domains

Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266

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 null
Transcript: ENSMUST00000133845

SMART Domains

Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	C	A	5: 100,126,945 (GRCm39)	A9E	unknown	Het
6030452D12Rik	A	T	8: 107,227,411 (GRCm39)		probably null	Het
Abcb11	C	A	2: 69,117,979 (GRCm39)	Q466H	probably damaging	Het
Adam20	A	G	8: 41,248,421 (GRCm39)	D177G	probably benign	Het
Ampd1	A	T	3: 102,992,696 (GRCm39)	Q150L	probably benign	Het
Angpt2	A	C	8: 18,755,840 (GRCm39)	M209R	probably benign	Het
Aoc2	G	A	11: 101,219,371 (GRCm39)	R598Q	probably damaging	Het
Arap1	A	G	7: 101,049,418 (GRCm39)	D960G	probably damaging	Het
Bhlhe40	G	C	6: 108,642,242 (GRCm39)	L395F	probably benign	Het
Cacna1i	T	C	15: 80,275,854 (GRCm39)	C1882R	possibly damaging	Het
Ccr6	A	G	17: 8,475,611 (GRCm39)	N272S	possibly damaging	Het
Ces1f	A	T	8: 93,998,472 (GRCm39)	W175R	probably damaging	Het
Ces3a	A	C	8: 105,782,239 (GRCm39)	H364P	possibly damaging	Het
Cfap54	T	C	10: 92,637,000 (GRCm39)	M3130V	probably benign	Het
Clca3b	G	A	3: 144,531,681 (GRCm39)	P708S	possibly damaging	Het
Cps1	A	T	1: 67,197,028 (GRCm39)	T360S	probably benign	Het
Cramp1	A	T	17: 25,201,379 (GRCm39)	M701K	possibly damaging	Het
Dnah1	A	G	14: 31,020,664 (GRCm39)	I1235T	probably damaging	Het
Efcab3	T	C	11: 104,920,837 (GRCm39)	L4676P	probably benign	Het
Ergic1	A	G	17: 26,860,644 (GRCm39)	E244G	probably damaging	Het
Fignl2	C	A	15: 100,951,382 (GRCm39)	R300L	unknown	Het
Fry	T	C	5: 150,419,814 (GRCm39)	M628T		Het
Fscn3	A	G	6: 28,431,544 (GRCm39)	T292A	possibly damaging	Het
Fsip2	A	T	2: 82,819,860 (GRCm39)	I5198L	probably benign	Het
Gm4181	T	A	14: 51,869,990 (GRCm39)	R104W	probably damaging	Het
Gnl1	G	A	17: 36,294,305 (GRCm39)	R308H	probably benign	Het
Gtf2h4	G	T	17: 35,980,857 (GRCm39)	L271I	probably damaging	Het
Hhatl	A	T	9: 121,618,652 (GRCm39)	W117R	probably benign	Het
Hlx	A	G	1: 184,462,993 (GRCm39)	F220L	probably benign	Het
Il31ra	T	C	13: 112,688,497 (GRCm39)	I27V	probably damaging	Het
Itga8	T	G	2: 12,266,940 (GRCm39)	D165A	probably damaging	Het
Krt33a	A	C	11: 99,902,801 (GRCm39)	V341G	probably benign	Het
Lrrc3c	A	G	11: 98,490,266 (GRCm39)	M208V	possibly damaging	Het
Mapk8ip3	A	T	17: 25,120,135 (GRCm39)	S947T	probably benign	Het
Muc5b	A	G	7: 141,412,444 (GRCm39)	I1797V	unknown	Het
Myh2	A	T	11: 67,088,191 (GRCm39)	T1936S	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Or1l8	T	A	2: 36,817,986 (GRCm39)	I47F	probably damaging	Het
Or4c114	A	T	2: 88,904,811 (GRCm39)	I208K	probably damaging	Het
Or4e2	A	G	14: 52,688,670 (GRCm39)	I267V	probably benign	Het
Or5d40	A	G	2: 88,015,952 (GRCm39)	T244A	possibly damaging	Het
Phf3	A	G	1: 30,852,211 (GRCm39)	M1064T	probably benign	Het
Pkd1	A	G	17: 24,794,025 (GRCm39)	E1904G	probably benign	Het
Polrmt	A	G	10: 79,576,483 (GRCm39)	V491A	probably benign	Het
Ppm1j	C	A	3: 104,691,429 (GRCm39)	R306S	probably damaging	Het
Prkd2	T	C	7: 16,581,547 (GRCm39)	F134S	probably benign	Het
Prpf8	C	A	11: 75,382,610 (GRCm39)	Q439K	probably benign	Het
Prss50	A	T	9: 110,692,800 (GRCm39)	I307F	possibly damaging	Het
Rgs20	A	G	1: 4,982,535 (GRCm39)		probably null	Het
Rnf144b	A	G	13: 47,393,258 (GRCm39)	E199G	probably damaging	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc22a26	A	T	19: 7,768,259 (GRCm39)	V233E	probably damaging	Het
Slc27a2	T	G	2: 126,395,124 (GRCm39)	L17R	probably benign	Het
Slc6a17	A	G	3: 107,398,794 (GRCm39)	V269A	probably benign	Het
Srp54c	T	C	12: 55,304,237 (GRCm39)	V395A	probably benign	Het
Sspo	A	T	6: 48,438,581 (GRCm39)	S1550C	possibly damaging	Het
Tet1	A	G	10: 62,715,818 (GRCm39)		probably benign	Het
Themis	A	T	10: 28,609,497 (GRCm39)	H88L	probably benign	Het
Tmem63b	G	A	17: 45,971,773 (GRCm39)	T814M	possibly damaging	Het
Tnc	G	A	4: 63,889,469 (GRCm39)	T1679I	probably damaging	Het
Tnfrsf11a	A	G	1: 105,772,456 (GRCm39)	D581G	probably damaging	Het
Trim30d	A	C	7: 104,132,555 (GRCm39)	V244G	probably benign	Het
Trpv1	T	C	11: 73,151,163 (GRCm39)	S784P	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Ubap2l	A	C	3: 89,922,713 (GRCm39)	V775G	unknown	Het
Vmn2r69	A	C	7: 85,060,972 (GRCm39)	I204R	possibly damaging	Het
Vmn2r72	T	A	7: 85,399,771 (GRCm39)	D426V	probably benign	Het
Vmn2r93	G	A	17: 18,533,497 (GRCm39)	W467*	probably null	Het
Wbp2nl	T	C	15: 82,198,542 (GRCm39)	*360Q	probably null	Het
Xylt1	G	A	7: 117,191,274 (GRCm39)		probably null	Het
Zc3h6	T	G	2: 128,835,331 (GRCm39)	N123K	unknown	Het
Zfp853	T	C	5: 143,275,110 (GRCm39)	Q185R	unknown	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
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'- AACTCAGCGGAGGAGAGCTTAC -3'
(R):5'- ACAGATGCAGACACATGCATG -3'

Sequencing Primer
(F):5'- TTACCTCCGTGCAGGCAGATTG -3'
(R):5'- ATGCATGCACCCACTATGTG -3'

Posted On

2019-06-26