Mutagenetix > Incidental Mutation

Incidental Mutation 'R6077:Helz2'

482776

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

044238-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6077 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181233038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1888 (P1888S)

Ref Sequence

ENSEMBL: ENSMUSP00000104459 (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: P1888S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: P1888S

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: P1888S

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: P1888S

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: P1888S

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: P1888S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155049

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	T	11: 100,519,757	V132I	probably benign	Het
Adgrb3	A	T	1: 25,094,000	L1335*	probably null	Het
Adgre5	A	G	8: 83,727,966	S301P	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Aldh1b1	A	G	4: 45,802,525	Y21C	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankrd7	T	A	6: 18,868,072	S112R	probably benign	Het
Arhgap23	T	A	11: 97,491,232		probably null	Het
Atp4a	G	A	7: 30,715,919	M321I	probably benign	Het
C2cd4d	A	T	3: 94,364,308	R294W	probably damaging	Het
Carns1	T	C	19: 4,170,876	I352V	probably benign	Het
Cdh17	T	A	4: 11,803,969	S547R	probably benign	Het
Cdyl2	G	T	8: 116,589,390	N286K	probably damaging	Het
Fam186a	C	A	15: 99,942,703	V1887L	possibly damaging	Het
Fat4	C	T	3: 39,002,802	R4216C	probably damaging	Het
Fcamr	T	C	1: 130,812,926	W361R	probably damaging	Het
Itih1	A	T	14: 30,929,876	F840L	possibly damaging	Het
Kansl2	T	C	15: 98,531,431	D146G	probably benign	Het
Kcnk18	T	C	19: 59,235,314	V297A	probably damaging	Het
Kif1a	T	C	1: 93,054,896	T720A	possibly damaging	Het
Kl	C	G	5: 150,953,001	F95L	probably damaging	Het
Large2	C	T	2: 92,366,570	R423K	probably benign	Het
Lgals3bp	A	G	11: 118,399,742	V13A	probably damaging	Het
Lrrd1	A	G	5: 3,850,837	I381V	probably benign	Het
Mastl	A	T	2: 23,155,794	I23N	probably damaging	Het
Mettl23	T	C	11: 116,848,902	V1A	possibly damaging	Het
Mindy2	A	G	9: 70,631,081	V324A	probably damaging	Het
Mtmr4	T	A	11: 87,611,019	L633Q	probably damaging	Het
Myh1	G	A	11: 67,211,447	E855K	probably damaging	Het
Nin	C	T	12: 70,019,232	A2026T	probably damaging	Het
Nova2	G	A	7: 18,957,869	A244T	unknown	Het
Olfr263	A	T	13: 21,133,293	I173F	probably benign	Het
Otulin	T	C	15: 27,611,610	T166A	probably benign	Het
P2ry14	T	A	3: 59,115,377	R230W	probably damaging	Het
Pcsk4	T	C	10: 80,326,239	E83G	probably damaging	Het
Raet1e	C	A	10: 22,181,988	T218N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,579,928		probably benign	Het
Safb	G	A	17: 56,602,956		probably benign	Het
Scn7a	T	A	2: 66,697,596	N850I	probably damaging	Het
Slc16a4	A	G	3: 107,301,065	D297G	possibly damaging	Het
Tcf7l2	A	T	19: 55,917,436	K278*	probably null	Het
Tesmin	T	C	19: 3,389,260	V104A	possibly damaging	Het
Tiam1	A	G	16: 89,798,030		probably null	Het
Tmc4	T	C	7: 3,667,527	T522A	probably damaging	Het
Tmprss3	T	A	17: 31,189,167	I274F	possibly damaging	Het
Topbp1	A	G	9: 103,332,990	K916E	probably damaging	Het
Trdv1	A	G	14: 53,882,056	D58G	probably benign	Het
Ube2g2	G	T	10: 77,622,305		probably benign	Het
Unc5d	G	T	8: 28,675,307	Q747K	possibly damaging	Het
Xpo6	A	G	7: 126,109,952	V819A	possibly damaging	Het
Zan	T	A	5: 137,414,297		probably benign	Het
Zfp317	T	A	9: 19,646,888	W133R	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
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
R7774:Helz2	UTSW	2	181233991	missense	probably benign
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'- AGCCCAGCTTGTTTTGAGGC -3'
(R):5'- CCCTCTGGAAACAAGTGCAG -3'

Sequencing Primer
(F):5'- GTAGCTCTGGGCACTTGCATAC -3'
(R):5'- GCTTGCAGCTGGTACTCAG -3'

Posted On

2017-07-14