Mutagenetix > Incidental Mutation

Incidental Mutation 'R1682:Helq'

189228

Institutional Source

Beutler Lab

Gene Symbol

Helq

Ensembl Gene

ENSMUSG00000035266

Gene Name

helicase, POLQ-like

Synonyms

Hel308, D430018E21Rik

MMRRC Submission

039718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100910011-100946464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100940679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 307 (S307T)

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: S307T

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: S307T

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: S305T

SMART Domains

Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: S305T

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,283,043 (GRCm39)	D2203G	probably benign	Het
Acin1	A	G	14: 54,901,175 (GRCm39)	S629P	probably damaging	Het
Agbl2	T	A	2: 90,614,434 (GRCm39)	I22N	probably benign	Het
Ank1	A	G	8: 23,599,343 (GRCm39)	E796G	probably damaging	Het
Ankrd13d	A	G	19: 4,332,961 (GRCm39)	L13P	probably damaging	Het
Ankrd36	T	C	11: 5,557,143 (GRCm39)	S364P	possibly damaging	Het
Ap2a1	T	C	7: 44,565,362 (GRCm39)	T126A	probably benign	Het
Apob	A	G	12: 8,062,365 (GRCm39)	I3616V	probably benign	Het
Arl5a	A	T	2: 52,306,214 (GRCm39)	N39K	probably benign	Het
Baiap2	G	A	11: 119,888,366 (GRCm39)	R334H	probably damaging	Het
Bbox1	T	A	2: 110,122,893 (GRCm39)	N132I	possibly damaging	Het
Bcl11b	A	G	12: 107,882,908 (GRCm39)	L469P	probably damaging	Het
Brca1	A	G	11: 101,416,391 (GRCm39)	I581T	probably damaging	Het
Cacng2	T	C	15: 78,002,997 (GRCm39)	Y32C	probably damaging	Het
Capn9	G	T	8: 125,338,304 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,400,671 (GRCm39)	T290A	probably benign	Het
Cdk5rap2	C	T	4: 70,220,387 (GRCm39)	V593I	possibly damaging	Het
Cep128	G	C	12: 91,197,596 (GRCm39)	D91E	probably damaging	Het
Cep295	T	C	9: 15,245,217 (GRCm39)	M1080V	probably benign	Het
Coq8b	T	A	7: 26,939,549 (GRCm39)	M193K	probably benign	Het
Csn1s2b	A	G	5: 87,970,162 (GRCm39)	Y131C	probably damaging	Het
D130043K22Rik	T	C	13: 25,066,539 (GRCm39)	S779P	probably damaging	Het
Dgat1	C	T	15: 76,387,219 (GRCm39)	C356Y	probably benign	Het
Dipk1c	A	T	18: 84,754,988 (GRCm39)	I155F	possibly damaging	Het
Dnah12	A	T	14: 26,500,840 (GRCm39)	T1543S	possibly damaging	Het
Dock3	T	C	9: 106,851,040 (GRCm39)	S821G	probably damaging	Het
Dock4	G	A	12: 40,775,779 (GRCm39)	C574Y	probably damaging	Het
Dr1	T	C	5: 108,417,604 (GRCm39)	I50T	probably damaging	Het
Dzip3	A	T	16: 48,778,780 (GRCm39)		probably null	Het
Eln	C	A	5: 134,732,636 (GRCm39)	*861L	probably null	Het
Eml6	T	A	11: 29,709,065 (GRCm39)	H24L	probably benign	Het
Eps8l3	A	C	3: 107,798,622 (GRCm39)	T503P	possibly damaging	Het
Fgf1	C	A	18: 38,974,985 (GRCm39)	D155Y	possibly damaging	Het
Fkbp15	A	T	4: 62,242,431 (GRCm39)	M507K	probably damaging	Het
Flnb	A	T	14: 7,913,121 (GRCm38)	R1463S	probably benign	Het
Fras1	C	T	5: 96,793,732 (GRCm39)	T1018I	probably benign	Het
Gm10803	T	A	2: 93,394,533 (GRCm39)	C102S	probably damaging	Het
Gpatch1	C	A	7: 35,002,812 (GRCm39)	V233L	possibly damaging	Het
Gramd1a	T	C	7: 30,842,325 (GRCm39)		probably null	Het
Gsk3a	T	C	7: 24,935,133 (GRCm39)	T106A	possibly damaging	Het
Hap1	A	G	11: 100,240,302 (GRCm39)	V136A	possibly damaging	Het
Herc2	T	A	7: 55,738,148 (GRCm39)	S264T	possibly damaging	Het
Htr4	A	G	18: 62,561,137 (GRCm39)	M133V	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jakmip2	A	G	18: 43,714,896 (GRCm39)		probably null	Het
Ldhd	T	A	8: 112,354,745 (GRCm39)	S358C	possibly damaging	Het
Lrp1	A	T	10: 127,410,201 (GRCm39)	V1515E	probably damaging	Het
Ltbp3	A	G	19: 5,801,782 (GRCm39)	D700G	probably benign	Het
Magel2	T	G	7: 62,029,983 (GRCm39)	S962R	unknown	Het
Map2	A	C	1: 66,454,781 (GRCm39)		probably null	Het
Map3k1	T	A	13: 111,893,684 (GRCm39)	E704V	probably damaging	Het
Mrpl39	A	T	16: 84,527,347 (GRCm39)	V180D	probably damaging	Het
Myef2	T	C	2: 124,939,978 (GRCm39)	M383V	probably damaging	Het
Myh3	A	G	11: 66,979,891 (GRCm39)	Y610C	probably damaging	Het
Or10ak7	A	G	4: 118,791,778 (GRCm39)	L89P	probably damaging	Het
Or51h1	T	C	7: 102,308,904 (GRCm39)	V292A	probably damaging	Het
Or8g54	T	A	9: 39,706,954 (GRCm39)	Y94*	probably null	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pabpc1	T	A	15: 36,605,785 (GRCm39)	N135I	possibly damaging	Het
Pcsk6	T	A	7: 65,559,976 (GRCm39)	H100Q	probably damaging	Het
Pdss1	A	G	2: 22,805,531 (GRCm39)	K270E	probably damaging	Het
Pigx	A	T	16: 31,906,268 (GRCm39)	S18T	possibly damaging	Het
Plbd2	T	A	5: 120,623,849 (GRCm39)	T558S	probably damaging	Het
Plppr1	A	T	4: 49,325,617 (GRCm39)		probably null	Het
Plppr2	T	A	9: 21,855,717 (GRCm39)	V230E	possibly damaging	Het
Pola2	A	G	19: 6,003,091 (GRCm39)		probably null	Het
Ppp2r3d	A	G	9: 101,089,505 (GRCm39)	S273P	probably benign	Het
Prkdc	A	G	16: 15,494,853 (GRCm39)	E741G	probably benign	Het
Prom2	C	A	2: 127,382,082 (GRCm39)	V111L	possibly damaging	Het
Rapgef4	A	G	2: 72,056,912 (GRCm39)	D557G	possibly damaging	Het
Rgs10	T	C	7: 127,975,694 (GRCm39)	T158A	probably benign	Het
Rnf123	A	C	9: 107,954,597 (GRCm39)	Y40D	probably benign	Het
Rnf14	A	G	18: 38,441,242 (GRCm39)	T211A	probably benign	Het
Rp1l1	T	A	14: 64,266,417 (GRCm39)	S668T	probably damaging	Het
Sema6d	T	A	2: 124,507,069 (GRCm39)	L946Q	probably benign	Het
Sgcd	T	G	11: 47,085,869 (GRCm39)	K94Q	probably benign	Het
Skor2	A	T	18: 76,947,211 (GRCm39)	D311V	unknown	Het
Slc34a1	A	T	13: 23,996,623 (GRCm39)	I43F	probably damaging	Het
Spdye4c	C	A	2: 128,434,542 (GRCm39)	P40T	probably damaging	Het
Srp72	C	A	5: 77,135,717 (GRCm39)	Q216K	possibly damaging	Het
Tmem62	C	T	2: 120,837,538 (GRCm39)	T485I	probably benign	Het
Tmem94	G	T	11: 115,681,056 (GRCm39)	V432L	probably damaging	Het
Trio	T	C	15: 27,744,232 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,292,055 (GRCm39)	D581E	probably benign	Het
Unc5d	T	A	8: 29,249,109 (GRCm39)	S319C	probably damaging	Het
Vmn1r211	T	C	13: 23,035,813 (GRCm39)	I285V	probably damaging	Het
Vmn2r68	A	G	7: 84,882,574 (GRCm39)	Y393H	possibly damaging	Het
Vmn2r99	A	C	17: 19,598,207 (GRCm39)	N77T	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACCACACACCTTCTCTTGGACAATG -3'
(R):5'- CAACTACTGTAAGGGTGAGCCAGC -3'

Sequencing Primer
(F):5'- TCTCAGCCACAAGGGTTTTC -3'
(R):5'- CAGACTTGCTGGCTGTGC -3'

Posted On

2014-05-14