Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Helz2'

682913

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8969 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181237788 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 679 (V679A)

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: V679A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: V679A

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

possibly damaging
Transcript: ENSMUST00000108831
AA Change: V679A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: V679A

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: V679A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: V679A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,277,944	N662K	probably benign	Het
Acp7	G	A	7: 28,607,957	R492W	probably damaging	Het
Adam33	C	T	2: 131,053,074	G688D	probably damaging	Het
Ak3	T	G	19: 29,047,694	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,570,808	T417A	probably benign	Het
Ambp	C	T	4: 63,154,091		probably benign	Het
Arhgef11	T	C	3: 87,725,642	S687P	probably damaging	Het
Ash1l	T	C	3: 88,966,291	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,387,834	A524T	probably benign	Het
Btbd10	A	T	7: 113,325,955	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,705,579	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,653	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522	D501E	probably benign	Het
Chrnb2	A	G	3: 89,757,225	F461L	probably damaging	Het
Clic1	T	C	17: 35,055,410		probably null	Het
Cmah	A	G	13: 24,422,653	Y89C	probably damaging	Het
Crkl	A	G	16: 17,469,054	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,112,820	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,547,794	Y142S	probably damaging	Het
Decr2	T	A	17: 26,087,381	M94L	probably benign	Het
Dspp	A	T	5: 104,177,774	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723	R1708G	probably damaging	Het
Eno3	T	A	11: 70,660,865	I217N	possibly damaging	Het
Fcho2	A	T	13: 98,755,096	L386*	probably null	Het
Gm5114	C	A	7: 39,409,308	V296F	probably damaging	Het
Hc	A	G	2: 35,019,463		probably null	Het
Ifnar2	T	C	16: 91,404,172	F434L	probably benign	Het
Isl1	A	G	13: 116,303,321	S164P	possibly damaging	Het
Jup	C	T	11: 100,379,565	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,660,088	Y621*	probably null	Het
Kif2b	T	C	11: 91,577,193	H88R	probably benign	Het
Kit	G	A	5: 75,639,062	V485I		Het
Klhl36	T	C	8: 119,870,148	L196P	probably damaging	Het
Klk1b27	T	A	7: 44,054,508	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,314,389	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,387,608	N242Y	probably damaging	Het
Krt36	T	A	11: 100,102,303	I449F	probably damaging	Het
Med27	G	T	2: 29,346,863	V7F	possibly damaging	Het
Mxd1	C	T	6: 86,651,484	V145M	probably benign	Het
Mylip	T	A	13: 45,391,344	F81L	probably damaging	Het
Nceh1	T	A	3: 27,222,736	F69L	probably null	Het
Ndufs3	A	T	2: 90,902,429	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,559,130	V46G	unknown	Het
Olfr1022	A	G	2: 85,869,488	N299D	probably benign	Het
Olfr1111	T	A	2: 87,150,584	M26L	probably benign	Het
Olfr33	T	C	7: 102,714,351	T21A	probably benign	Het
Olfr585	T	G	7: 103,098,044	I101S	probably damaging	Het
Palld	T	A	8: 61,684,849	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,490,779	L343R	probably damaging	Het
Pclo	T	A	5: 14,522,194	I531N	unknown	Het
Phip	T	C	9: 82,926,964		probably benign	Het
Phldb2	A	T	16: 45,772,133		probably null	Het
Ppp2r5e	G	T	12: 75,453,718	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,903,447	I97M	probably benign	Het
Ptpn21	T	A	12: 98,689,025	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079	H121Q	possibly damaging	Het
Rrnad1	G	A	3: 87,929,975		probably benign	Het
Sec1	A	G	7: 45,679,473	F50S	possibly damaging	Het
Sec62	A	G	3: 30,818,875	E369G	unknown	Het
Serpinb2	A	T	1: 107,524,660	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,384,826	T802P	probably benign	Het
Srd5a3	A	G	5: 76,153,646	R241G	probably benign	Het
Suox	T	C	10: 128,671,673	N162S	probably benign	Het
Tenm2	C	T	11: 36,051,861	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,011,738	D86G	probably damaging	Het
Tmc1	G	A	19: 20,816,229	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,713,899	I263L	possibly damaging	Het
Tmtc4	T	C	14: 122,941,812		probably benign	Het
Tnfrsf22	T	A	7: 143,638,436	N171I	unknown	Het
Trpm3	A	G	19: 22,925,944	S1035G	probably damaging	Het
U2af1	C	T	17: 31,648,880	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,085,634	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,478,019	T154A	probably benign	Het
Xrn2	T	C	2: 147,029,384	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,428,665	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,725,280	S269L	probably benign	Het
Zfp735	T	A	11: 73,711,873	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,225,834		probably null	Het
Zranb3	A	T	1: 127,960,851	D832E	possibly damaging	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
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
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'- AGCTTCTGTTTGTGATTGCCAC -3'
(R):5'- GGTATCCCTGAAGACAGCACTG -3'

Sequencing Primer
(F):5'- TTGCCACGAAATGAGGGTG -3'
(R):5'- TGGAGACACCAGCACTCG -3'

Posted On

2021-10-11