Mutagenetix > Incidental Mutations

Incidental Mutation 'R7061:Helz'

548279

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7061 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107547930-107693826 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107649177 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1007 (T1007A)

Ref Sequence

ENSEMBL: ENSMUSP00000097878 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075012
AA Change: T1008A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074533
Gene: ENSMUSG00000020721
AA Change: T1008A

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

possibly damaging
Transcript: ENSMUST00000100305
AA Change: T1007A

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097878
Gene: ENSMUSG00000020721
AA Change: T1007A

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

possibly damaging
Transcript: ENSMUST00000106746
AA Change: T1007A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102357
Gene: ENSMUSG00000020721
AA Change: T1007A

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 benign
Transcript: ENSMUST00000133862
AA Change: T326A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117498
Gene: ENSMUSG00000020721
AA Change: T326A

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

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Evc	T	C	5: 37,319,102	T368A	possibly damaging	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	possibly 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
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
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
X0065:Helz	UTSW	11	107670447	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAGGATCTCTGGTGTCTCCAC -3'
(R):5'- AATTCACTGTGTGATGGTACAGAC -3'

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

Posted On

2019-05-13