Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02938:Helz'

364408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

3110078M01Rik, 9430093I07Rik, 9630002H22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02938

Quality Score

Status

Chromosome

Chromosomal Location

107438756-107584652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107577264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1872 (E1872K)

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

unknown
Transcript: ENSMUST00000075012
AA Change: E1873K

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: E1873K

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: E1872K

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: E1872K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153080

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,180,979 (GRCm39)	T1152A	possibly damaging	Het
Adgra3	T	C	5: 50,118,659 (GRCm39)	D963G	probably benign	Het
Adrm1	T	A	2: 179,817,395 (GRCm39)	D287E	probably damaging	Het
Agxt	A	G	1: 93,072,831 (GRCm39)	D396G	probably damaging	Het
Ankle1	C	T	8: 71,858,896 (GRCm39)	A43V	probably damaging	Het
Apc	A	G	18: 34,448,281 (GRCm39)	I1692V	probably damaging	Het
Arhgef18	T	C	8: 3,500,802 (GRCm39)	V588A	probably benign	Het
Ccdc62	T	A	5: 124,072,247 (GRCm39)	V4E	probably benign	Het
Cdh16	A	T	8: 105,343,561 (GRCm39)		probably benign	Het
Cr2	A	T	1: 194,848,696 (GRCm39)	C276S	probably damaging	Het
Cyp2c29	T	A	19: 39,275,567 (GRCm39)	D2E	probably damaging	Het
Ddx31	T	A	2: 28,749,035 (GRCm39)	V277E	possibly damaging	Het
Defa35	C	T	8: 21,555,930 (GRCm39)		probably benign	Het
Dhx9	A	T	1: 153,340,376 (GRCm39)	D707E	probably benign	Het
Dnmt1	A	G	9: 20,852,669 (GRCm39)	S28P	probably benign	Het
Dock5	A	T	14: 67,994,667 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,928,365 (GRCm39)		probably benign	Het
Egln1	A	G	8: 125,640,754 (GRCm39)		probably null	Het
Esr1	T	A	10: 4,733,872 (GRCm39)	M224K	probably damaging	Het
Flt1	A	G	5: 147,615,109 (GRCm39)	I279T	possibly damaging	Het
Fzd6	T	C	15: 38,897,285 (GRCm39)	I478T	probably benign	Het
Glb1l3	A	G	9: 26,738,055 (GRCm39)	V368A	probably benign	Het
Gltpd2	T	C	11: 70,410,637 (GRCm39)	F5S	probably damaging	Het
Irak3	A	G	10: 120,018,429 (GRCm39)		probably null	Het
Itsn2	A	T	12: 4,747,216 (GRCm39)	I1206F	probably damaging	Het
Lingo3	A	T	10: 80,670,988 (GRCm39)	V314E	probably benign	Het
Lrrc8a	C	T	2: 30,145,698 (GRCm39)	R171W	probably damaging	Het
Lsg1	T	C	16: 30,390,024 (GRCm39)	T364A	probably benign	Het
Mks1	T	C	11: 87,753,478 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,872,729 (GRCm39)	F89Y	probably damaging	Het
Myo1b	A	C	1: 51,840,337 (GRCm39)		probably null	Het
Myo1h	T	C	5: 114,497,000 (GRCm39)	Y819H	probably damaging	Het
Nedd1	G	A	10: 92,525,519 (GRCm39)	Q597*	probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Or5an9	A	G	19: 12,187,046 (GRCm39)	T39A	probably benign	Het
Pbrm1	T	C	14: 30,789,761 (GRCm39)	S792P	probably damaging	Het
Pccb	T	C	9: 100,866,449 (GRCm39)	N457S	probably benign	Het
Plekho2	T	C	9: 65,465,902 (GRCm39)	E162G	possibly damaging	Het
Pou1f1	A	T	16: 65,320,430 (GRCm39)	T40S	probably benign	Het
Pwwp2b	T	C	7: 138,836,059 (GRCm39)	V500A	probably damaging	Het
Pygo1	C	T	9: 72,852,020 (GRCm39)	A69V	probably damaging	Het
Slc18a3	A	C	14: 32,185,772 (GRCm39)	Y204D	probably damaging	Het
Stab2	A	G	10: 86,707,785 (GRCm39)	V261A	possibly damaging	Het
Tacc2	A	T	7: 130,330,671 (GRCm39)	K208N	probably damaging	Het
Tbc1d4	T	C	14: 101,738,536 (GRCm39)	D403G	probably damaging	Het
Tbc1d9	T	A	8: 83,995,696 (GRCm39)		probably benign	Het
Tdrkh	T	C	3: 94,336,657 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,964,982 (GRCm39)	L180H	probably damaging	Het
Tm4sf19	T	A	16: 32,224,733 (GRCm39)	L27Q	probably damaging	Het
Tmtc2	A	G	10: 105,249,157 (GRCm39)	V192A	probably damaging	Het
Ttn	C	A	2: 76,543,328 (GRCm39)	M33219I	probably damaging	Het
Vmn1r52	A	T	6: 90,156,295 (GRCm39)	M200L	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,263 (GRCm39)	H739L	probably benign	Het
Wdr20rt	T	C	12: 65,272,692 (GRCm39)	F52L	probably benign	Het
Zbtb38	C	T	9: 96,569,227 (GRCm39)	G619D	probably benign	Het
Zfyve19	T	C	2: 119,041,999 (GRCm39)	V156A	probably benign	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
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
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

Posted On

2015-12-18