Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Helz'

163827

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 107494889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746]

AlphaFold

Q6DFV5

Predicted Effect

probably benign
Transcript: ENSMUST00000075012

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721

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

probably benign
Transcript: ENSMUST00000100305

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721

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	2.7e-31	PFAM
Pfam:AAA_30	641	837	1.7e-10	PFAM
Pfam:AAA_19	648	727	6.3e-9	PFAM
Pfam:AAA_12	840	1052	3.4e-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

Predicted Effect

probably benign
Transcript: ENSMUST00000106746

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Glt6d1	A	G	2: 25,684,260 (GRCm39)	Y249H	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably 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
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
R7734:Helz	UTSW	11	107,576,248 (GRCm39)	missense	unknown
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'- CTGAACCTGATCCCATGCTCTCAAG -3'
(R):5'- AGCTGCGTCAATCATCACCCTC -3'

Sequencing Primer
(F):5'- ATGCTCTCAAGGGTAACGTC -3'
(R):5'- GCATGAGTACTGGCTCCAATC -3'

Posted On

2014-03-28