Mutagenetix > Incidental Mutation

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

045384-MU

Accession Numbers

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 (GRCm38)

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]

AlphaFold

Q6DFV5

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
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'- TTAGGATCTCTGGTGTCTCCAC -3'
(R):5'- AATTCACTGTGTGATGGTACAGAC -3'

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

Posted On

2019-05-13