Mutagenetix > Incidental Mutation

Incidental Mutation 'R9209:Helq'

698700

Institutional Source

Beutler Lab

Gene Symbol

Helq

Ensembl Gene

ENSMUSG00000035266

Gene Name

helicase, POLQ-like

Synonyms

Hel308, D430018E21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100910011-100946464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100939218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 443 (V443F)

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: V443F

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041599
Gene: ENSMUSG00000035266
AA Change: V443F

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

SMART Domains

Protein: ENSMUSP00000116470
Gene: ENSMUSG00000035266
AA Change: V441F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (73/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,837 (GRCm39)	N513K	possibly damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts5	A	G	16: 85,666,971 (GRCm39)	V507A	probably damaging	Het
Ap3d1	A	G	10: 80,554,918 (GRCm39)	V469A	probably benign	Het
Arhgef4	G	T	1: 34,764,241 (GRCm39)		probably null	Het
Arhgef4	A	T	1: 34,849,576 (GRCm39)	Q389L	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Azin2	T	C	4: 128,841,341 (GRCm39)	E275G	probably damaging	Het
Bhlhe23	A	G	2: 180,418,143 (GRCm39)	S132P	probably damaging	Het
Capn12	A	G	7: 28,581,243 (GRCm39)	Y32C	probably damaging	Het
Celsr2	A	T	3: 108,321,349 (GRCm39)	S488T	probably benign	Het
Cenpx	A	G	11: 120,602,582 (GRCm39)	V27A	possibly damaging	Het
Clca3a2	G	A	3: 144,778,005 (GRCm39)	P760L	probably benign	Het
Clstn3	T	C	6: 124,408,571 (GRCm39)	S951G	probably benign	Het
Clybl	C	A	14: 122,621,670 (GRCm39)	P286Q	probably benign	Het
Cmya5	T	A	13: 93,226,866 (GRCm39)	M2741L	probably benign	Het
Cntnap2	G	A	6: 47,026,183 (GRCm39)	G944E	probably damaging	Het
Col8a1	A	C	16: 57,447,283 (GRCm39)	Y742*	probably null	Het
Crb1	T	C	1: 139,171,051 (GRCm39)	K780E	probably damaging	Het
Crygc	T	A	1: 65,112,376 (GRCm39)	Y66F	probably benign	Het
Cyp2b9	G	A	7: 25,873,004 (GRCm39)	G49E	possibly damaging	Het
D130043K22Rik	T	C	13: 25,041,090 (GRCm39)	S171P	possibly damaging	Het
Dhx36	T	C	3: 62,378,895 (GRCm39)	I890V	probably benign	Het
Dpp9	C	T	17: 56,512,765 (GRCm39)	G148S	probably damaging	Het
Eml6	G	T	11: 29,781,175 (GRCm39)	S619Y	probably damaging	Het
Enpp4	A	T	17: 44,412,252 (GRCm39)	L319*	probably null	Het
Esyt1	T	C	10: 128,361,356 (GRCm39)	S113G	probably benign	Het
Fat1	A	G	8: 45,404,791 (GRCm39)	D514G	possibly damaging	Het
Fbxo16	G	A	14: 65,524,594 (GRCm39)	R38Q	probably damaging	Het
Fchsd1	A	T	18: 38,092,706 (GRCm39)	M668K	unknown	Het
Gpr149	C	T	3: 62,511,093 (GRCm39)	S302N	probably benign	Het
Gsap	A	G	5: 21,433,064 (GRCm39)	K258E	probably benign	Het
Ighv1-37	T	C	12: 114,860,123 (GRCm39)	E29G	possibly damaging	Het
Ighv1-9	C	A	12: 114,547,620 (GRCm39)	M1I	probably null	Het
Itga6	T	G	2: 71,671,477 (GRCm39)	F743V	probably benign	Het
Lpin1	C	A	12: 16,588,548 (GRCm39)	D881Y		Het
Lypd8	T	A	11: 58,273,640 (GRCm39)	C40S	possibly damaging	Het
Macf1	C	T	4: 123,326,227 (GRCm39)	R5092Q	probably damaging	Het
Mcm7	A	G	5: 138,166,593 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,696,170 (GRCm39)	T831I	unknown	Het
Myo18b	A	T	5: 113,022,927 (GRCm39)	M155K	unknown	Het
Nckap5	T	A	1: 125,867,928 (GRCm39)	H201L	unknown	Het
Ndst2	A	T	14: 20,779,240 (GRCm39)	D333E	possibly damaging	Het
Nlgn1	A	G	3: 25,966,804 (GRCm39)		probably null	Het
Nup188	T	G	2: 30,232,397 (GRCm39)	Y1483D	probably benign	Het
Or4c109	A	C	2: 88,818,057 (GRCm39)	L163*	probably null	Het
Or52ae9	T	A	7: 103,390,319 (GRCm39)	S43C	probably benign	Het
Or52n4b	A	C	7: 108,144,664 (GRCm39)	I311L	probably benign	Het
Or5p66	T	A	7: 107,885,526 (GRCm39)	Y269F	probably benign	Het
Or8g33	T	A	9: 39,337,635 (GRCm39)	H244L	probably damaging	Het
Peg3	A	C	7: 6,711,226 (GRCm39)	I1332S	possibly damaging	Het
Piezo2	T	C	18: 63,154,372 (GRCm39)	K2469R	probably damaging	Het
Pik3cg	T	C	12: 32,247,312 (GRCm39)	M804V	probably damaging	Het
Polq	A	T	16: 36,869,011 (GRCm39)	I794F	possibly damaging	Het
Rasgef1b	A	G	5: 99,370,191 (GRCm39)	V437A	probably benign	Het
Rdm1	T	A	11: 101,518,857 (GRCm39)	D21E	probably benign	Het
Ripk4	G	T	16: 97,551,311 (GRCm39)	Q219K	possibly damaging	Het
Ropn1l	T	C	15: 31,441,471 (GRCm39)	I217V		Het
Sdf2	T	C	11: 78,136,858 (GRCm39)	S13P	unknown	Het
Selenbp1	A	G	3: 94,847,079 (GRCm39)	T202A	probably benign	Het
Slfn5	T	C	11: 82,850,933 (GRCm39)	F410S	possibly damaging	Het
Srrm2	A	G	17: 24,039,880 (GRCm39)	T2175A	probably benign	Het
St6galnac3	T	C	3: 153,117,360 (GRCm39)	Y121C	possibly damaging	Het
Stat1	A	G	1: 52,184,337 (GRCm39)	N417S	probably benign	Het
Tead1	T	C	7: 112,475,378 (GRCm39)	F276L	probably damaging	Het
Teddm3	A	T	16: 20,971,737 (GRCm39)	S277R	probably benign	Het
Tmc2	A	G	2: 130,103,317 (GRCm39)		probably null	Het
Tmem156	G	A	5: 65,231,127 (GRCm39)	L248F	probably damaging	Het
Tnn	T	C	1: 159,953,986 (GRCm39)	S590G	probably benign	Het
Trmt44	A	G	5: 35,731,422 (GRCm39)		probably null	Het
Upp2	T	A	2: 58,668,022 (GRCm39)	Y238*	probably null	Het
Usp32	T	C	11: 84,930,838 (GRCm39)	T531A	probably damaging	Het
Vmn2r78	A	T	7: 86,569,431 (GRCm39)	D108V	probably benign	Het
Wdfy3	G	T	5: 102,078,830 (GRCm39)	A824E	probably benign	Het
Xylt1	T	C	7: 117,255,870 (GRCm39)	V814A	probably benign	Het
Zfy1	C	T	Y: 732,990 (GRCm39)	R281H	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
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
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'- GCAAGCACCTTTGTAATCCTCAC -3'
(R):5'- TGATGTATCAGGATGCTACCCC -3'

Sequencing Primer
(F):5'- AGCACCTTTGTAATCCTCACCCATC -3'
(R):5'- ATCAGGATGCTACCCCAATTTTTAC -3'

Posted On

2022-02-07