Mutagenetix > Incidental Mutation

Incidental Mutation 'R7774:Helz2'

598748

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

045830-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181233991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1570 (Y1570C)

Ref Sequence

ENSEMBL: ENSMUSP00000091756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094203] [ENSMUST00000108831] [ENSMUST00000121484]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000094203
AA Change: Y1570C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: Y1570C

Domain	Start	End	E-Value	Type
low complexity region	509	517	N/A	INTRINSIC
AAA	782	973	1.41e-2	SMART
low complexity region	1238	1263	N/A	INTRINSIC
low complexity region	1284	1291	N/A	INTRINSIC
RNB	1567	1924	2.45e-87	SMART
low complexity region	2056	2067	N/A	INTRINSIC
low complexity region	2242	2259	N/A	INTRINSIC
AAA	2462	2713	1.48e0	SMART
SCOP:d1pjr_2	2793	2838	2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108831
AA Change: Y1570C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: Y1570C

Domain	Start	End	E-Value	Type
low complexity region	509	517	N/A	INTRINSIC
AAA	782	973	1.41e-2	SMART
low complexity region	1238	1263	N/A	INTRINSIC
low complexity region	1284	1291	N/A	INTRINSIC
RNB	1567	1924	2.45e-87	SMART
low complexity region	2056	2067	N/A	INTRINSIC
low complexity region	2242	2259	N/A	INTRINSIC
AAA	2462	2713	1.48e0	SMART
SCOP:d1pjr_2	2793	2838	2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121484
AA Change: Y1570C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: Y1570C

Domain	Start	End	E-Value	Type
low complexity region	509	517	N/A	INTRINSIC
Pfam:AAA_11	761	877	3.9e-10	PFAM
Pfam:AAA_19	780	849	1.7e-7	PFAM
Pfam:AAA_11	870	952	2e-15	PFAM
Pfam:AAA_12	958	1162	3.8e-26	PFAM
low complexity region	1238	1263	N/A	INTRINSIC
low complexity region	1284	1291	N/A	INTRINSIC
RNB	1567	1924	2.45e-87	SMART
low complexity region	2056	2067	N/A	INTRINSIC
low complexity region	2242	2259	N/A	INTRINSIC
Pfam:AAA_11	2400	2653	4e-42	PFAM
Pfam:AAA_12	2660	2866	2e-47	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slower weight gain, hyperleptinemia, increased oxygen consumption, decreased respiratory quotient, decreased liver triglyceride level and ameliorated hyperlipidemia and hepatosteatosis when fed a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,596,533	T809N	probably benign	Het
Adgb	C	A	10: 10,339,660	E1561*	probably null	Het
Adgra1	A	T	7: 139,847,712	H65L	possibly damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Atrnl1	G	T	19: 57,699,671	G856V	probably damaging	Het
Cc2d2b	A	G	19: 40,765,717	K177E	unknown	Het
Ccdc122	T	C	14: 77,067,939	V11A	probably benign	Het
Clasp2	T	A	9: 113,848,736		probably null	Het
Col6a1	T	C	10: 76,709,876	T921A	unknown	Het
Cul3	A	C	1: 80,269,294	D697E	probably benign	Het
Defa34	G	A	8: 21,665,962	E56K	probably benign	Het
Dhrs7c	A	G	11: 67,809,815	R63G	probably damaging	Het
Dnah3	T	A	7: 119,951,752	K136*	probably null	Het
Exoc7	T	C	11: 116,295,316	D353G	possibly damaging	Het
Fbxw21	T	C	9: 109,143,840	Y342C	probably benign	Het
Fitm2	T	A	2: 163,470,066	I76F	probably damaging	Het
Fryl	A	T	5: 73,083,384	I1291N	probably benign	Het
Fzd2	A	T	11: 102,605,488	I253F	possibly damaging	Het
Gm13089	C	T	4: 143,697,106	S371N	possibly damaging	Het
Gm5592	A	T	7: 41,289,859	Y855F	probably damaging	Het
Hist1h1t	A	G	13: 23,696,200	K112R	possibly damaging	Het
Hist4h4	G	T	6: 136,804,283	P33T	possibly damaging	Het
Ints11	A	G	4: 155,885,683	T228A	probably benign	Het
Ipo13	G	T	4: 117,914,297	N25K	probably benign	Het
Itga9	T	A	9: 118,871,900	I917N	probably damaging	Het
Krt39	T	C	11: 99,514,611		probably null	Het
Krtap13-1	C	T	16: 88,729,173	T95I	possibly damaging	Het
Ldlrad4	G	T	18: 68,235,792	E107*	probably null	Het
Lrrc6	T	G	15: 66,449,552	I247L	probably benign	Het
Ly6a	A	T	15: 74,997,567	I13N	probably damaging	Het
Mfsd4b4	T	C	10: 39,892,411	T275A	probably benign	Het
Mgat3	C	T	15: 80,211,542	T190M	probably damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mucl1	G	T	15: 103,753,684	N85K	possibly damaging	Het
Nifk	G	A	1: 118,327,661	E96K	possibly damaging	Het
Olfr290	T	A	7: 84,916,531	F251I	probably damaging	Het
Olfr600	T	C	7: 103,346,530	R133G	possibly damaging	Het
Olfr895	T	C	9: 38,269,359	V274A	probably damaging	Het
Opn3	C	T	1: 175,662,905	V397M	probably damaging	Het
Pcdha2	A	G	18: 36,941,526	M737V	probably benign	Het
Pdk4	T	A	6: 5,492,757	D98V	possibly damaging	Het
Pkhd1l1	A	G	15: 44,540,907	T2311A	probably benign	Het
Pla2r1	A	T	2: 60,530,458	C195*	probably null	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Ptprq	T	C	10: 107,643,669	T1166A	probably damaging	Het
Ran	G	A	5: 129,022,810	D215N	probably benign	Het
Rb1cc1	T	C	1: 6,248,085	F604L	possibly damaging	Het
Rgl1	T	A	1: 152,554,350	E227D	probably benign	Het
Sec24b	C	A	3: 129,984,197	R1204L	possibly damaging	Het
Shroom3	T	C	5: 92,950,489	L1276P	probably damaging	Het
Smarcad1	T	A	6: 65,107,830	M820K	probably damaging	Het
Sptbn1	A	T	11: 30,142,142	M541K	probably damaging	Het
Tcp11l2	T	C	10: 84,604,983	V351A	possibly damaging	Het
Tecpr2	A	G	12: 110,933,172	D658G	probably benign	Het
Tlr6	T	G	5: 64,953,385	E726D	probably damaging	Het
Tmem218	T	A	9: 37,222,568	H101Q	probably benign	Het
Tnfrsf4	C	T	4: 156,014,338	Q82*	probably null	Het
Trpm7	A	G	2: 126,813,238	V1260A	probably benign	Het
Trpm8	A	T	1: 88,330,841	E282V	probably damaging	Het
Tuba8	T	C	6: 121,223,389	V344A	probably damaging	Het
Tvp23a	A	G	16: 10,427,381		probably null	Het
Zfp174	G	A	16: 3,849,351	V135M	probably damaging	Het
Zfp418	G	A	7: 7,182,777	V580I	possibly damaging	Het
Zfp451	T	A	1: 33,805,393	E44D	probably benign	Het
Zfp521	T	C	18: 13,845,781	D525G	probably benign	Het

Other mutations in Helz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Helz2	APN	2	181229702	missense	probably damaging	1.00
IGL00515:Helz2	APN	2	181233006	nonsense	probably null
IGL00704:Helz2	APN	2	181234385	missense	probably damaging	1.00
IGL00847:Helz2	APN	2	181232245	missense	possibly damaging	0.73
IGL01448:Helz2	APN	2	181233977	missense	probably damaging	1.00
IGL01783:Helz2	APN	2	181232881	missense	probably damaging	1.00
IGL01790:Helz2	APN	2	181238481	missense	probably benign	0.29
IGL02116:Helz2	APN	2	181232185	missense	probably damaging	1.00
IGL02226:Helz2	APN	2	181231690	missense	probably damaging	1.00
IGL02402:Helz2	APN	2	181230911	missense	probably damaging	1.00
IGL02403:Helz2	APN	2	181231022	missense	probably damaging	1.00
IGL02733:Helz2	APN	2	181235026	missense	probably benign	0.14
IGL02869:Helz2	APN	2	181231146	intron	probably benign
IGL03003:Helz2	APN	2	181240253	missense	probably damaging	1.00
IGL03060:Helz2	APN	2	181229222	critical splice donor site	probably null
IGL03310:Helz2	APN	2	181231804	missense	probably benign	0.00
Colby	UTSW	2	181233202	missense	probably damaging	1.00
ANU74:Helz2	UTSW	2	181234834	missense	probably benign	0.03
R0013:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0013:Helz2	UTSW	2	181240959	missense	probably benign
R0014:Helz2	UTSW	2	181240511	missense	probably damaging	1.00
R0014:Helz2	UTSW	2	181240511	missense	probably damaging	1.00
R0016:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0018:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0055:Helz2	UTSW	2	181228821	missense	possibly damaging	0.47
R0055:Helz2	UTSW	2	181228821	missense	possibly damaging	0.47
R0071:Helz2	UTSW	2	181236407	missense	probably damaging	1.00
R0071:Helz2	UTSW	2	181236407	missense	probably damaging	1.00
R0111:Helz2	UTSW	2	181237802	missense	probably benign	0.30
R0117:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0135:Helz2	UTSW	2	181232269	missense	probably damaging	1.00
R0194:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	181230430	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	181230430	missense	probably damaging	1.00
R0254:Helz2	UTSW	2	181232759	missense	probably damaging	1.00
R0410:Helz2	UTSW	2	181230593	missense	probably damaging	1.00
R0442:Helz2	UTSW	2	181232209	missense	probably damaging	0.97
R0497:Helz2	UTSW	2	181229656	missense	probably damaging	0.97
R0517:Helz2	UTSW	2	181227770	missense	probably benign	0.00
R0541:Helz2	UTSW	2	181234825	missense	possibly damaging	0.89
R0542:Helz2	UTSW	2	181232089	missense	probably damaging	1.00
R0591:Helz2	UTSW	2	181232116	missense	probably damaging	0.96
R0692:Helz2	UTSW	2	181240881	missense	probably benign
R0826:Helz2	UTSW	2	181240853	missense	possibly damaging	0.51
R0834:Helz2	UTSW	2	181230777	missense	probably damaging	1.00
R0880:Helz2	UTSW	2	181236135	missense	probably benign
R1170:Helz2	UTSW	2	181229815	missense	probably damaging	1.00
R1186:Helz2	UTSW	2	181231128	missense	probably damaging	1.00
R1344:Helz2	UTSW	2	181237596	missense	possibly damaging	0.89
R1358:Helz2	UTSW	2	181232981	missense	probably damaging	1.00
R1436:Helz2	UTSW	2	181235524	missense	probably damaging	0.99
R1464:Helz2	UTSW	2	181239654	missense	probably damaging	1.00
R1464:Helz2	UTSW	2	181239654	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	181236297	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	181236297	missense	probably damaging	1.00
R1477:Helz2	UTSW	2	181232804	missense	probably benign	0.00
R1564:Helz2	UTSW	2	181233228	missense	probably benign	0.01
R1584:Helz2	UTSW	2	181236297	missense	probably damaging	1.00
R1655:Helz2	UTSW	2	181234147	missense	probably damaging	0.99
R1757:Helz2	UTSW	2	181236263	missense	probably damaging	1.00
R1779:Helz2	UTSW	2	181234987	missense	probably benign
R1779:Helz2	UTSW	2	181238459	missense	possibly damaging	0.84
R1837:Helz2	UTSW	2	181229289	missense	probably damaging	1.00
R1845:Helz2	UTSW	2	181232085	missense	probably benign	0.02
R1894:Helz2	UTSW	2	181234289	missense	probably damaging	1.00
R1913:Helz2	UTSW	2	181233750	missense	probably damaging	1.00
R2005:Helz2	UTSW	2	181231329	missense	probably benign	0.45
R2034:Helz2	UTSW	2	181232578	missense	probably damaging	1.00
R2036:Helz2	UTSW	2	181237479	missense	probably benign	0.03
R2061:Helz2	UTSW	2	181240544	missense	probably damaging	1.00
R2088:Helz2	UTSW	2	181235102	missense	probably benign	0.07
R2142:Helz2	UTSW	2	181231380	missense	probably benign
R2180:Helz2	UTSW	2	181233732	missense	probably damaging	1.00
R2192:Helz2	UTSW	2	181229048	nonsense	probably null
R2248:Helz2	UTSW	2	181233433	missense	probably benign	0.33
R2495:Helz2	UTSW	2	181232912	missense	probably damaging	0.99
R2886:Helz2	UTSW	2	181240742	missense	probably benign
R3617:Helz2	UTSW	2	181233061	missense	probably damaging	1.00
R3776:Helz2	UTSW	2	181240389	nonsense	probably null
R3803:Helz2	UTSW	2	181239996	missense	probably damaging	0.96
R4043:Helz2	UTSW	2	181229710	missense	probably benign	0.00
R4052:Helz2	UTSW	2	181240475	missense	probably damaging	1.00
R4232:Helz2	UTSW	2	181229902	missense	probably damaging	1.00
R4521:Helz2	UTSW	2	181228833	missense	probably benign
R4624:Helz2	UTSW	2	181239308	missense	probably damaging	0.99
R4720:Helz2	UTSW	2	181238417	missense	probably damaging	1.00
R4831:Helz2	UTSW	2	181237417	missense	probably damaging	1.00
R4852:Helz2	UTSW	2	181230120	missense	probably damaging	1.00
R4894:Helz2	UTSW	2	181236147	missense	probably benign	0.01
R4915:Helz2	UTSW	2	181232438	missense	possibly damaging	0.80
R4965:Helz2	UTSW	2	181240916	missense	possibly damaging	0.79
R5022:Helz2	UTSW	2	181240569	missense	probably benign
R5089:Helz2	UTSW	2	181235149	missense	probably benign	0.14
R5190:Helz2	UTSW	2	181230757	critical splice donor site	probably null
R5309:Helz2	UTSW	2	181234846	missense	probably benign	0.08
R5358:Helz2	UTSW	2	181235528	missense	probably damaging	1.00
R5379:Helz2	UTSW	2	181235069	missense	probably benign
R5559:Helz2	UTSW	2	181230126	missense	probably damaging	0.98
R5591:Helz2	UTSW	2	181240258	missense	probably damaging	0.99
R5596:Helz2	UTSW	2	181237289	intron	probably benign
R5805:Helz2	UTSW	2	181240508	missense	probably damaging	1.00
R5823:Helz2	UTSW	2	181236396	missense	possibly damaging	0.92
R5825:Helz2	UTSW	2	181232656	missense	probably benign	0.02
R5873:Helz2	UTSW	2	181234028	missense	possibly damaging	0.78
R5928:Helz2	UTSW	2	181230384	missense	possibly damaging	0.82
R5936:Helz2	UTSW	2	181230767	missense	probably damaging	1.00
R5975:Helz2	UTSW	2	181231050	missense	probably benign	0.08
R6045:Helz2	UTSW	2	181240313	missense	probably benign	0.03
R6077:Helz2	UTSW	2	181233038	missense	probably benign	0.41
R6218:Helz2	UTSW	2	181232294	missense	probably benign	0.03
R6218:Helz2	UTSW	2	181235945	missense	probably damaging	1.00
R6315:Helz2	UTSW	2	181233202	missense	probably damaging	1.00
R6346:Helz2	UTSW	2	181233467	missense	probably damaging	1.00
R6371:Helz2	UTSW	2	181233467	missense	probably damaging	1.00
R6372:Helz2	UTSW	2	181233467	missense	probably damaging	1.00
R6373:Helz2	UTSW	2	181233467	missense	probably damaging	1.00
R6385:Helz2	UTSW	2	181233467	missense	probably damaging	1.00
R6464:Helz2	UTSW	2	181235069	missense	probably benign
R6581:Helz2	UTSW	2	181229379	missense	probably damaging	0.99
R6651:Helz2	UTSW	2	181239557	nonsense	probably null
R6964:Helz2	UTSW	2	181230428	missense	probably damaging	1.00
R7061:Helz2	UTSW	2	181240514	missense	probably damaging	1.00
R7153:Helz2	UTSW	2	181231285	missense	probably benign	0.00
R7372:Helz2	UTSW	2	181238423	missense	possibly damaging	0.61
R7512:Helz2	UTSW	2	181230854	missense	probably benign	0.00
R7512:Helz2	UTSW	2	181235600	splice site	probably null
R7583:Helz2	UTSW	2	181237572	missense	probably benign	0.06
R7724:Helz2	UTSW	2	181231996	missense	probably damaging	1.00
R7733:Helz2	UTSW	2	181230355	missense	possibly damaging	0.63
R7748:Helz2	UTSW	2	181234531	missense	probably damaging	1.00
R7799:Helz2	UTSW	2	181237989	missense	probably benign	0.15
R7841:Helz2	UTSW	2	181232902	missense	probably damaging	1.00
R7939:Helz2	UTSW	2	181237750	missense	probably damaging	0.99
R8026:Helz2	UTSW	2	181240205	missense	probably benign	0.34
R8030:Helz2	UTSW	2	181237896	missense	possibly damaging	0.55
R8080:Helz2	UTSW	2	181238262	missense	probably damaging	0.99
R8237:Helz2	UTSW	2	181229331	missense	possibly damaging	0.65
R8245:Helz2	UTSW	2	181238102	missense	probably damaging	1.00
R8304:Helz2	UTSW	2	181230157	missense	probably benign	0.03
R8486:Helz2	UTSW	2	181229331	missense	probably damaging	1.00
R8556:Helz2	UTSW	2	181229557	missense	probably damaging	1.00
R8878:Helz2	UTSW	2	181232767	missense	possibly damaging	0.67
R8907:Helz2	UTSW	2	181233127	missense	possibly damaging	0.47
R8911:Helz2	UTSW	2	181238380	missense
R8953:Helz2	UTSW	2	181233091	missense	probably damaging	1.00
R8963:Helz2	UTSW	2	181229614	missense	probably damaging	1.00
R8969:Helz2	UTSW	2	181237788	missense	probably benign	0.19
R8976:Helz2	UTSW	2	181234693	missense	possibly damaging	0.46
R9015:Helz2	UTSW	2	181228999	missense	probably damaging	1.00
R9031:Helz2	UTSW	2	181232468	missense	possibly damaging	0.78
R9052:Helz2	UTSW	2	181240175	missense	possibly damaging	0.78
R9089:Helz2	UTSW	2	181239640	missense	probably damaging	1.00
R9145:Helz2	UTSW	2	181240055	missense	probably damaging	1.00
R9185:Helz2	UTSW	2	181230090	missense	probably benign
R9186:Helz2	UTSW	2	181234664	missense	possibly damaging	0.57
R9373:Helz2	UTSW	2	181240948	missense	probably benign
R9407:Helz2	UTSW	2	181240182	missense	probably benign	0.01
R9465:Helz2	UTSW	2	181232917	missense	probably benign	0.01
R9502:Helz2	UTSW	2	181236452	missense	possibly damaging	0.47
R9538:Helz2	UTSW	2	181240221	missense	probably damaging	1.00
R9554:Helz2	UTSW	2	181240677	missense	probably damaging	0.96
R9659:Helz2	UTSW	2	181240232	missense	probably benign	0.00
R9800:Helz2	UTSW	2	181240823	missense	probably damaging	0.99
X0064:Helz2	UTSW	2	181231741	missense	probably damaging	1.00
Z1176:Helz2	UTSW	2	181237564	missense	probably benign	0.39
Z1177:Helz2	UTSW	2	181235961	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGAGTACTGGCTCCCTATTG -3'
(R):5'- TATTGTCCTTTGGCGGGAAC -3'

Sequencing Primer
(F):5'- ATAGAACACAGTTCCCTGCTGG -3'
(R):5'- GGGAACGTTTCTACTATCCACTAGG -3'

Posted On

2019-11-26