Mutagenetix > Incidental Mutation

Incidental Mutation 'R5446:Helz'

429085

Institutional Source

Beutler Lab

Gene Symbol

Helz

Ensembl Gene

ENSMUSG00000020721

Gene Name

helicase with zinc finger domain

Synonyms

9630002H22Rik, 3110078M01Rik, 9430093I07Rik

MMRRC Submission

043011-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5446 (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 107632204 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 737 (V737A)

Ref Sequence

ENSEMBL: ENSMUSP00000102357 (fasta)

Gene Model

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

AlphaFold

Q6DFV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000075012
AA Change: V738A

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

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: V738A

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: V737A

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

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: V737A

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: V737A

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

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: V737A

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: V56A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: V56A

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,740,179	N155S	probably damaging	Het
Ak9	A	G	10: 41,420,509	D1417G	possibly damaging	Het
Ankrd52	G	T	10: 128,388,561	C736F	probably damaging	Het
Arhgap15	T	A	2: 43,828,760	H85Q	probably benign	Het
BC051142	T	C	17: 34,440,893		probably null	Het
Bcat2	G	A	7: 45,585,145	R110H	possibly damaging	Het
Bscl2	A	G	19: 8,846,200	H4R	possibly damaging	Het
Cdh2	T	C	18: 16,646,627	I126V	probably damaging	Het
Cnbd2	A	C	2: 156,367,661	E508A	possibly damaging	Het
Crb2	T	C	2: 37,795,449	I1191T	probably benign	Het
Dync2h1	T	C	9: 7,144,217	T1075A	probably benign	Het
Edil3	A	C	13: 89,184,838	H371P	possibly damaging	Het
Gm5134	T	C	10: 75,995,836	S370P	probably damaging	Het
Gm9573	T	A	17: 35,622,503		probably benign	Het
Jade2	A	G	11: 51,816,959	V809A	probably benign	Het
Klhl23	T	A	2: 69,824,238	C151S	probably damaging	Het
Krt75	T	C	15: 101,571,067	D276G	probably null	Het
Lipm	C	T	19: 34,117,887	A294V	possibly damaging	Het
Med13l	A	G	5: 118,742,397	N1185D	possibly damaging	Het
Mmp27	T	A	9: 7,573,515		probably benign	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Npnt	A	G	3: 132,908,369	L191P	probably damaging	Het
Olfr1257	A	T	2: 89,881,549	H241L	probably damaging	Het
Paip2b	T	C	6: 83,814,862	I13V	probably benign	Het
Pcdhac2	T	A	18: 37,145,200	L411Q	probably damaging	Het
Plekhd1	A	G	12: 80,720,636	N266S	probably benign	Het
Pnpla8	A	G	12: 44,290,585	T454A	possibly damaging	Het
Prkcg	A	T	7: 3,330,264	Y675F	probably benign	Het
Pwwp2b	T	A	7: 139,255,150	I169N	probably damaging	Het
Rreb1	G	A	13: 37,898,497	R86H	possibly damaging	Het
Smok3c	A	C	5: 138,064,633	L127F	probably damaging	Het
St6galnac1	T	A	11: 116,766,269	M427L	probably benign	Het
Synm	T	C	7: 67,735,974	T205A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn2r112	A	G	17: 22,618,250	Y564C	probably damaging	Het
Vmn2r90	A	C	17: 17,712,202	T124P	probably damaging	Het
Vpreb1	A	T	16: 16,868,690	V112E	probably damaging	Het
Zfp451	A	G	1: 33,777,528	L447S	probably damaging	Het
Zfp746	T	C	6: 48,064,173	T539A	probably damaging	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
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
R9761:Helz	UTSW	11	107670048	nonsense	probably null
X0065:Helz	UTSW	11	107670447	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TACTACAGCCTTAAACTCTGAGAGG -3'
(R):5'- AAGAGACCTGGCCAGATGTG -3'

Sequencing Primer
(F):5'- CCTTAAACTCTGAGAGGGTTGGAATG -3'
(R):5'- GAACCTGTCACTGGGAGAC -3'

Posted On

2016-09-06