Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Helz'

353541

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

9630002H22Rik, 3110078M01Rik, 9430093I07Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107547930-107693826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107649145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 315 (V315A)

Ref Sequence

ENSEMBL: ENSMUSP00000117498 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075012
AA Change: V997A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: V997A

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 damaging
Transcript: ENSMUST00000100305
AA Change: V996A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V996A

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 damaging
Transcript: ENSMUST00000106746
AA Change: V996A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V996A

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 damaging
Transcript: ENSMUST00000133862
AA Change: V315A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: V315A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143634

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078	T1994A	probably benign	Het
Zfp791	A	G	8: 85,110,930	Y102H	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
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
R9194:Helz	UTSW	11	107670287	nonsense	probably null
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
X0065:Helz	UTSW	11	107670447	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAGCTGCATGTGGTTAGGATC -3'
(R):5'- ATTCACTGTGTGATGGTACAGAC -3'

Sequencing Primer
(F):5'- AGGATCTCTGGTGTCTCCAC -3'
(R):5'- AGATTCTCTCAGTTCAGTGACACAC -3'

Posted On

2015-10-21