Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Helz'

697869

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

9630002H22Rik, 3110078M01Rik, 9430093I07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107547930-107693826 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 107670287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1392 (Q1392*)

Ref Sequence

ENSEMBL: ENSMUSP00000074533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075012] [ENSMUST00000100305] [ENSMUST00000106746] [ENSMUST00000133862]

AlphaFold

Q6DFV5

Predicted Effect

probably null
Transcript: ENSMUST00000075012
AA Change: Q1392*

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: Q1392*

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 null
Transcript: ENSMUST00000100305
AA Change: Q1391*

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: Q1391*

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 null
Transcript: ENSMUST00000106746
AA Change: Q1391*

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: Q1391*

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

probably null
Transcript: ENSMUST00000133862
AA Change: Q710*

SMART Domains

Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: Q710*

Domain	Start	End	E-Value	Type
Pfam:AAA_11	68	152	2.1e-19	PFAM
Pfam:AAA_12	159	371	1.5e-36	PFAM
low complexity region	483	494	N/A	INTRINSIC
low complexity region	678	766	N/A	INTRINSIC
low complexity region	784	805	N/A	INTRINSIC
low complexity region	875	886	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	probably benign	Het

Other mutations in Helz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Helz	APN	11	107663653	missense	possibly damaging	0.90
IGL01419:Helz	APN	11	107686514	missense	unknown
IGL01864:Helz	APN	11	107602354	missense	probably damaging	0.98
IGL01999:Helz	APN	11	107602928	splice site	probably benign
IGL02938:Helz	APN	11	107686438	missense	unknown
IGL03157:Helz	APN	11	107577888	missense	possibly damaging	0.95
IGL03374:Helz	APN	11	107620147	missense	probably damaging	0.98
R0058:Helz	UTSW	11	107672558	unclassified	probably benign
R0058:Helz	UTSW	11	107672558	unclassified	probably benign
R0112:Helz	UTSW	11	107672948	unclassified	probably benign
R0243:Helz	UTSW	11	107637914	missense	possibly damaging	0.85
R0328:Helz	UTSW	11	107604348	missense	probably benign	0.30
R0578:Helz	UTSW	11	107686400	missense	unknown
R0928:Helz	UTSW	11	107626693	missense	probably damaging	0.99
R1428:Helz	UTSW	11	107592840	splice site	probably benign
R1493:Helz	UTSW	11	107613925	missense	probably benign	0.15
R1494:Helz	UTSW	11	107604063	splice site	probably benign
R1541:Helz	UTSW	11	107670048	missense	probably benign	0.39
R1619:Helz	UTSW	11	107636279	nonsense	probably null
R1809:Helz	UTSW	11	107599171	missense	possibly damaging	0.87
R1942:Helz	UTSW	11	107602492	missense	probably benign	0.20
R2095:Helz	UTSW	11	107646146	missense	probably damaging	1.00
R2133:Helz	UTSW	11	107670484	missense	unknown
R2167:Helz	UTSW	11	107672964	unclassified	probably benign
R2406:Helz	UTSW	11	107686552	missense	unknown
R2571:Helz	UTSW	11	107613952	missense	probably benign	0.05
R2858:Helz	UTSW	11	107672927	unclassified	probably benign
R3927:Helz	UTSW	11	107685292	missense	unknown
R4449:Helz	UTSW	11	107604163	missense	probably benign	0.01
R4453:Helz	UTSW	11	107672629	nonsense	probably null
R4583:Helz	UTSW	11	107646069	missense	probably damaging	1.00
R4684:Helz	UTSW	11	107649145	missense	probably damaging	1.00
R4714:Helz	UTSW	11	107626716	critical splice donor site	probably null
R4875:Helz	UTSW	11	107637734	intron	probably benign
R4924:Helz	UTSW	11	107602339	missense	probably damaging	1.00
R4930:Helz	UTSW	11	107620168	missense	probably damaging	0.99
R5078:Helz	UTSW	11	107656096	missense	probably damaging	1.00
R5446:Helz	UTSW	11	107632204	missense	probably damaging	1.00
R5535:Helz	UTSW	11	107646120	missense	probably damaging	0.98
R5650:Helz	UTSW	11	107595146	missense	probably null	0.96
R5714:Helz	UTSW	11	107626521	splice site	probably null
R5784:Helz	UTSW	11	107670481	missense	unknown
R5998:Helz	UTSW	11	107685534	nonsense	probably null
R6042:Helz	UTSW	11	107614120	critical splice donor site	probably null
R6089:Helz	UTSW	11	107595137	critical splice acceptor site	probably null
R6137:Helz	UTSW	11	107619060	missense	possibly damaging	0.83
R6373:Helz	UTSW	11	107595184	missense	probably benign	0.01
R6392:Helz	UTSW	11	107602341	missense	possibly damaging	0.80
R6618:Helz	UTSW	11	107599150	missense	probably benign	0.01
R6644:Helz	UTSW	11	107632261	missense	possibly damaging	0.74
R6811:Helz	UTSW	11	107619318	critical splice donor site	probably null
R6874:Helz	UTSW	11	107663634	missense	probably damaging	0.97
R6911:Helz	UTSW	11	107619225	missense	probably benign	0.01
R7039:Helz	UTSW	11	107619318	critical splice donor site	probably null
R7061:Helz	UTSW	11	107649177	missense	possibly damaging	0.83
R7438:Helz	UTSW	11	107662030	missense	probably damaging	0.98
R7464:Helz	UTSW	11	107636278	missense	probably damaging	1.00
R7513:Helz	UTSW	11	107656115	missense	probably damaging	0.99
R7559:Helz	UTSW	11	107600278	missense	possibly damaging	0.67
R7734:Helz	UTSW	11	107685422	missense	unknown
R7780:Helz	UTSW	11	107637863	missense	probably damaging	1.00
R7982:Helz	UTSW	11	107626630	missense	possibly damaging	0.84
R8024:Helz	UTSW	11	107686421	missense	unknown
R8181:Helz	UTSW	11	107672573	missense	unknown
R8346:Helz	UTSW	11	107672573	missense	unknown
R8729:Helz	UTSW	11	107637928	critical splice donor site	probably null
R8807:Helz	UTSW	11	107603009	missense	probably damaging	1.00
R8821:Helz	UTSW	11	107635093	missense	probably damaging	0.99
R8891:Helz	UTSW	11	107662016	missense	probably damaging	0.99
R8909:Helz	UTSW	11	107666008	missense	possibly damaging	0.94
R8922:Helz	UTSW	11	107649159	missense	possibly damaging	0.90
R8926:Helz	UTSW	11	107672683	missense	unknown
R8988:Helz	UTSW	11	107604253	missense	probably damaging	0.99
R9053:Helz	UTSW	11	107672935	missense	unknown
R9056:Helz	UTSW	11	107656193	missense	possibly damaging	0.84
R9099:Helz	UTSW	11	107632215	missense	probably damaging	1.00
R9122:Helz	UTSW	11	107666004	missense	probably benign	0.17
R9220:Helz	UTSW	11	107670047	missense	probably benign	0.11
R9223:Helz	UTSW	11	107619092	missense	probably benign	0.17
R9242:Helz	UTSW	11	107632327	missense	probably damaging	1.00
R9644:Helz	UTSW	11	107672861	missense	unknown
R9761:Helz	UTSW	11	107670048	nonsense	probably null
X0065:Helz	UTSW	11	107670447	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAGTCCTGAATCCCGTCC -3'
(R):5'- AAAATGCATTGGTGGGCCCC -3'

Sequencing Primer
(F):5'- CTGAATCCCGTCCTGGTG -3'
(R):5'- CCCCGCCTGAAATGCAG -3'

Posted On

2022-02-07