Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Helz'

596078

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

045790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 107576248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1814 (S1814R)

Ref Sequence

ENSEMBL: ENSMUSP00000074533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000106746]

AlphaFold

Q6DFV5

Predicted Effect

unknown
Transcript: ENSMUST00000075012
AA Change: S1814R

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: S1814R

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	6	84	5e-3	SMART
low complexity region	129	146	N/A	INTRINSIC
ZnF_C3H1	178	205	2.61e-4	SMART
Pfam:ResIII	639	807	6.7e-8	PFAM
Pfam:AAA_11	641	768	2.3e-14	PFAM
Pfam:AAA_30	641	838	2.6e-11	PFAM
Pfam:AAA_19	648	729	5.5e-11	PFAM
Pfam:AAA_11	758	834	3.8e-18	PFAM
Pfam:AAA_12	841	1053	7.4e-38	PFAM
low complexity region	1165	1176	N/A	INTRINSIC
low complexity region	1360	1448	N/A	INTRINSIC
low complexity region	1466	1487	N/A	INTRINSIC
low complexity region	1557	1568	N/A	INTRINSIC
low complexity region	1631	1647	N/A	INTRINSIC
low complexity region	1716	1736	N/A	INTRINSIC
low complexity region	1926	1933	N/A	INTRINSIC
low complexity region	1942	1957	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000106746
AA Change: S1813R

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: S1813R

Domain	Start	End	E-Value	Type
SCOP:d1ihga1	6	84	5e-3	SMART
low complexity region	129	146	N/A	INTRINSIC
ZnF_C3H1	178	205	2.61e-4	SMART
Pfam:AAA_11	641	833	1e-31	PFAM
Pfam:AAA_30	641	837	8.3e-11	PFAM
Pfam:AAA_19	648	727	2.2e-9	PFAM
Pfam:AAA_12	840	1052	1.7e-36	PFAM
low complexity region	1164	1175	N/A	INTRINSIC
low complexity region	1359	1447	N/A	INTRINSIC
low complexity region	1465	1486	N/A	INTRINSIC
low complexity region	1556	1567	N/A	INTRINSIC
low complexity region	1630	1646	N/A	INTRINSIC
low complexity region	1715	1735	N/A	INTRINSIC
low complexity region	1925	1932	N/A	INTRINSIC
low complexity region	1941	1956	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable, fertile and phenotypically normal with no apparent skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	T	C	9: 69,398,764 (GRCm39)	Y333H	probably benign	Het
Arid1a	A	T	4: 133,408,679 (GRCm39)	F1558I	unknown	Het
Aste1	A	G	9: 105,274,678 (GRCm39)	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,596,590 (GRCm39)	V843A	possibly damaging	Het
Atrip	T	A	9: 108,894,574 (GRCm39)	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,295,664 (GRCm39)	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,620,520 (GRCm39)	M37R	probably benign	Het
Cemip	G	A	7: 83,606,872 (GRCm39)	R782*	probably null	Het
Cpe	A	T	8: 65,070,654 (GRCm39)	I197N	probably benign	Het
Csmd2	C	A	4: 128,445,850 (GRCm39)	P3307T		Het
Cyp4a12b	C	A	4: 115,268,937 (GRCm39)	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,878 (GRCm39)	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,298,163 (GRCm39)	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,192,244 (GRCm39)	S387G	probably benign	Het
Ddx24	A	G	12: 103,383,819 (GRCm39)	M590T	possibly damaging	Het
Dixdc1	T	G	9: 50,613,268 (GRCm39)	Q229P	probably damaging	Het
Dnase1l3	T	C	14: 7,977,144 (GRCm38)	R181G	probably benign	Het
Dzip1l	A	T	9: 99,549,735 (GRCm39)	D735V	probably damaging	Het
Edem3	T	C	1: 151,694,336 (GRCm39)	S890P	probably benign	Het
Fuom	A	G	7: 139,679,455 (GRCm39)	L155P	unknown	Het
Gm6408	C	A	5: 146,421,160 (GRCm39)	S263*	probably null	Het
Hrc	T	C	7: 44,986,100 (GRCm39)	L417P	probably benign	Het
Igdcc4	A	C	9: 65,039,035 (GRCm39)	H894P	probably damaging	Het
Lgr6	C	A	1: 134,930,981 (GRCm39)	V296L	probably damaging	Het
Map3k4	T	A	17: 12,482,998 (GRCm39)	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,299 (GRCm39)	Y296H	unknown	Het
Mettl21a	C	T	1: 64,647,288 (GRCm39)	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 39,883,374 (GRCm39)	N25K	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Myo15a	G	A	11: 60,401,108 (GRCm39)	V3028M	probably benign	Het
Nlrp1a	T	A	11: 70,998,826 (GRCm39)	N859I	unknown	Het
Nrcam	T	C	12: 44,584,034 (GRCm39)	L36P	possibly damaging	Het
Nup107	C	A	10: 117,593,917 (GRCm39)	E759*	probably null	Het
Or14a259	A	G	7: 86,013,476 (GRCm39)	I23T	not run	Het
Pcdh7	T	G	5: 57,876,976 (GRCm39)	I177S	probably damaging	Het
Pde6a	T	C	18: 61,365,938 (GRCm39)	I221T	probably benign	Het
Ptpn13	A	T	5: 103,709,828 (GRCm39)	N1497I	probably damaging	Het
Rmc1	T	A	18: 12,322,320 (GRCm39)	I591N	possibly damaging	Het
Rpl4	T	A	9: 64,084,661 (GRCm39)	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scara5	A	G	14: 65,968,600 (GRCm39)	D291G	possibly damaging	Het
Septin14	T	A	5: 129,760,583 (GRCm39)	I422L	probably benign	Het
Serpina1e	T	C	12: 103,917,151 (GRCm39)	K173E	probably benign	Het
Slc5a1	C	T	5: 33,318,279 (GRCm39)	T644I	probably benign	Het
Slc6a13	A	T	6: 121,314,334 (GRCm39)	T590S	probably benign	Het
Smarca4	C	T	9: 21,578,658 (GRCm39)	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,691,832 (GRCm39)	D453E	probably benign	Het
Tcf12	C	A	9: 71,829,943 (GRCm39)	V173L	probably benign	Het
Tenm3	A	G	8: 49,099,368 (GRCm39)	C146R	probably damaging	Het
Trim11	T	C	11: 58,869,180 (GRCm39)	C39R	probably damaging	Het
Trim37	A	G	11: 87,068,821 (GRCm39)	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,798,368 (GRCm39)	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,258,776 (GRCm39)	S338N	probably benign	Het
Ulk2	G	A	11: 61,744,127 (GRCm39)	Q50*	probably null	Het
Urgcp	T	C	11: 5,666,406 (GRCm39)	D687G	probably benign	Het
Usp13	C	T	3: 32,892,054 (GRCm39)	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,742,296 (GRCm39)	D223E	probably benign	Het
Vwc2	G	A	11: 11,065,929 (GRCm39)	A6T	possibly damaging	Het

Other mutations in Helz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Helz	APN	11	107,554,479 (GRCm39)	missense	possibly damaging	0.90
IGL01419:Helz	APN	11	107,577,340 (GRCm39)	missense	unknown
IGL01864:Helz	APN	11	107,493,180 (GRCm39)	missense	probably damaging	0.98
IGL01999:Helz	APN	11	107,493,754 (GRCm39)	splice site	probably benign
IGL02938:Helz	APN	11	107,577,264 (GRCm39)	missense	unknown
IGL03157:Helz	APN	11	107,468,714 (GRCm39)	missense	possibly damaging	0.95
IGL03374:Helz	APN	11	107,510,973 (GRCm39)	missense	probably damaging	0.98
R0058:Helz	UTSW	11	107,563,384 (GRCm39)	unclassified	probably benign
R0058:Helz	UTSW	11	107,563,384 (GRCm39)	unclassified	probably benign
R0112:Helz	UTSW	11	107,563,774 (GRCm39)	unclassified	probably benign
R0243:Helz	UTSW	11	107,528,740 (GRCm39)	missense	possibly damaging	0.85
R0328:Helz	UTSW	11	107,495,174 (GRCm39)	missense	probably benign	0.30
R0578:Helz	UTSW	11	107,577,226 (GRCm39)	missense	unknown
R0928:Helz	UTSW	11	107,517,519 (GRCm39)	missense	probably damaging	0.99
R1428:Helz	UTSW	11	107,483,666 (GRCm39)	splice site	probably benign
R1493:Helz	UTSW	11	107,504,751 (GRCm39)	missense	probably benign	0.15
R1494:Helz	UTSW	11	107,494,889 (GRCm39)	splice site	probably benign
R1541:Helz	UTSW	11	107,560,874 (GRCm39)	missense	probably benign	0.39
R1619:Helz	UTSW	11	107,527,105 (GRCm39)	nonsense	probably null
R1809:Helz	UTSW	11	107,489,997 (GRCm39)	missense	possibly damaging	0.87
R1942:Helz	UTSW	11	107,493,318 (GRCm39)	missense	probably benign	0.20
R2095:Helz	UTSW	11	107,536,972 (GRCm39)	missense	probably damaging	1.00
R2133:Helz	UTSW	11	107,561,310 (GRCm39)	missense	unknown
R2167:Helz	UTSW	11	107,563,790 (GRCm39)	unclassified	probably benign
R2406:Helz	UTSW	11	107,577,378 (GRCm39)	missense	unknown
R2571:Helz	UTSW	11	107,504,778 (GRCm39)	missense	probably benign	0.05
R2858:Helz	UTSW	11	107,563,753 (GRCm39)	unclassified	probably benign
R3927:Helz	UTSW	11	107,576,118 (GRCm39)	missense	unknown
R4449:Helz	UTSW	11	107,494,989 (GRCm39)	missense	probably benign	0.01
R4453:Helz	UTSW	11	107,563,455 (GRCm39)	nonsense	probably null
R4583:Helz	UTSW	11	107,536,895 (GRCm39)	missense	probably damaging	1.00
R4684:Helz	UTSW	11	107,539,971 (GRCm39)	missense	probably damaging	1.00
R4714:Helz	UTSW	11	107,517,542 (GRCm39)	critical splice donor site	probably null
R4875:Helz	UTSW	11	107,528,560 (GRCm39)	intron	probably benign
R4924:Helz	UTSW	11	107,493,165 (GRCm39)	missense	probably damaging	1.00
R4930:Helz	UTSW	11	107,510,994 (GRCm39)	missense	probably damaging	0.99
R5078:Helz	UTSW	11	107,546,922 (GRCm39)	missense	probably damaging	1.00
R5446:Helz	UTSW	11	107,523,030 (GRCm39)	missense	probably damaging	1.00
R5535:Helz	UTSW	11	107,536,946 (GRCm39)	missense	probably damaging	0.98
R5650:Helz	UTSW	11	107,485,972 (GRCm39)	missense	probably null	0.96
R5714:Helz	UTSW	11	107,517,347 (GRCm39)	splice site	probably null
R5784:Helz	UTSW	11	107,561,307 (GRCm39)	missense	unknown
R5998:Helz	UTSW	11	107,576,360 (GRCm39)	nonsense	probably null
R6042:Helz	UTSW	11	107,504,946 (GRCm39)	critical splice donor site	probably null
R6089:Helz	UTSW	11	107,485,963 (GRCm39)	critical splice acceptor site	probably null
R6137:Helz	UTSW	11	107,509,886 (GRCm39)	missense	possibly damaging	0.83
R6373:Helz	UTSW	11	107,486,010 (GRCm39)	missense	probably benign	0.01
R6392:Helz	UTSW	11	107,493,167 (GRCm39)	missense	possibly damaging	0.80
R6618:Helz	UTSW	11	107,489,976 (GRCm39)	missense	probably benign	0.01
R6644:Helz	UTSW	11	107,523,087 (GRCm39)	missense	possibly damaging	0.74
R6811:Helz	UTSW	11	107,510,144 (GRCm39)	critical splice donor site	probably null
R6874:Helz	UTSW	11	107,554,460 (GRCm39)	missense	probably damaging	0.97
R6911:Helz	UTSW	11	107,510,051 (GRCm39)	missense	probably benign	0.01
R7039:Helz	UTSW	11	107,510,144 (GRCm39)	critical splice donor site	probably null
R7061:Helz	UTSW	11	107,540,003 (GRCm39)	missense	possibly damaging	0.83
R7438:Helz	UTSW	11	107,552,856 (GRCm39)	missense	probably damaging	0.98
R7464:Helz	UTSW	11	107,527,104 (GRCm39)	missense	probably damaging	1.00
R7513:Helz	UTSW	11	107,546,941 (GRCm39)	missense	probably damaging	0.99
R7559:Helz	UTSW	11	107,491,104 (GRCm39)	missense	possibly damaging	0.67
R7780:Helz	UTSW	11	107,528,689 (GRCm39)	missense	probably damaging	1.00
R7982:Helz	UTSW	11	107,517,456 (GRCm39)	missense	possibly damaging	0.84
R8024:Helz	UTSW	11	107,577,247 (GRCm39)	missense	unknown
R8181:Helz	UTSW	11	107,563,399 (GRCm39)	missense	unknown
R8346:Helz	UTSW	11	107,563,399 (GRCm39)	missense	unknown
R8729:Helz	UTSW	11	107,528,754 (GRCm39)	critical splice donor site	probably null
R8807:Helz	UTSW	11	107,493,835 (GRCm39)	missense	probably damaging	1.00
R8821:Helz	UTSW	11	107,525,919 (GRCm39)	missense	probably damaging	0.99
R8891:Helz	UTSW	11	107,552,842 (GRCm39)	missense	probably damaging	0.99
R8909:Helz	UTSW	11	107,556,834 (GRCm39)	missense	possibly damaging	0.94
R8922:Helz	UTSW	11	107,539,985 (GRCm39)	missense	possibly damaging	0.90
R8926:Helz	UTSW	11	107,563,509 (GRCm39)	missense	unknown
R8988:Helz	UTSW	11	107,495,079 (GRCm39)	missense	probably damaging	0.99
R9053:Helz	UTSW	11	107,563,761 (GRCm39)	missense	unknown
R9056:Helz	UTSW	11	107,547,019 (GRCm39)	missense	possibly damaging	0.84
R9099:Helz	UTSW	11	107,523,041 (GRCm39)	missense	probably damaging	1.00
R9122:Helz	UTSW	11	107,556,830 (GRCm39)	missense	probably benign	0.17
R9194:Helz	UTSW	11	107,561,113 (GRCm39)	nonsense	probably null
R9220:Helz	UTSW	11	107,560,873 (GRCm39)	missense	probably benign	0.11
R9223:Helz	UTSW	11	107,509,918 (GRCm39)	missense	probably benign	0.17
R9242:Helz	UTSW	11	107,523,153 (GRCm39)	missense	probably damaging	1.00
R9644:Helz	UTSW	11	107,563,687 (GRCm39)	missense	unknown
R9761:Helz	UTSW	11	107,560,874 (GRCm39)	nonsense	probably null
X0065:Helz	UTSW	11	107,561,273 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGAGGCCTGACTTACCAAAC -3'
(R):5'- GGAACTGATGGGAAACTGCC -3'

Sequencing Primer
(F):5'- ACCAAACATCCTTTTCTTTGTGTAG -3'
(R):5'- CCCATATGCAGTCAGGTGCTAAG -3'

Posted On

2019-11-12