Mutagenetix > Incidental Mutation

Incidental Mutation 'R0517:Helz2'

48215

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

038710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181227770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2959 (S2959P)

Ref Sequence

ENSEMBL: ENSMUSP00000091756 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050026] [ENSMUST00000094203] [ENSMUST00000108831] [ENSMUST00000121484]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050026

SMART Domains

Protein: ENSMUSP00000056320
Gene: ENSMUSG00000047841

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	125	137	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
SCOP:d1fna__	224	309	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000094203
AA Change: S2959P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: S2959P

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

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580

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

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

100% (62/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	T	A	17: 36,981,132		probably benign	Het
Acer1	T	C	17: 56,955,569	T194A	probably benign	Het
Adamts1	C	A	16: 85,800,353	D10Y	possibly damaging	Het
Adamts7	T	C	9: 90,199,858	V1612A	probably benign	Het
Adcyap1r1	T	A	6: 55,491,297	S373T	probably damaging	Het
Armc4	A	C	18: 7,223,621	L474R	probably damaging	Het
Asic5	A	T	3: 82,009,526	I266F	probably benign	Het
Cacna1d	A	T	14: 30,179,275	I274K	probably damaging	Het
Camsap2	G	T	1: 136,293,388	Q238K	possibly damaging	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cerk	G	A	15: 86,156,648	T170I	probably damaging	Het
Cyp27b1	T	C	10: 127,050,116		probably null	Het
Cyp2c65	T	C	19: 39,082,348		probably benign	Het
Dennd5a	A	G	7: 109,934,761	S75P	probably damaging	Het
Dhx9	C	T	1: 153,478,916	A146T	possibly damaging	Het
Dpysl5	A	G	5: 30,778,066	D171G	probably damaging	Het
Dsg3	A	G	18: 20,529,025	N449S	probably benign	Het
Eps8l3	T	C	3: 107,883,460	S189P	probably benign	Het
Exph5	A	G	9: 53,372,762	E381G	probably benign	Het
Fam208b	T	A	13: 3,566,964	T2367S	possibly damaging	Het
Fbxo46	A	G	7: 19,136,874	M473V	possibly damaging	Het
Fgf14	G	A	14: 123,983,784	P203S	probably damaging	Het
Foxf2	C	T	13: 31,626,243	A55V	unknown	Het
Galnt5	T	G	2: 58,035,373		probably benign	Het
Glis2	T	C	16: 4,611,552	L181P	probably damaging	Het
Gm1000	T	G	12: 104,476,408		probably benign	Het
Hyal6	A	G	6: 24,734,853	N262D	probably benign	Het
Lgr4	T	C	2: 110,011,320	L526P	probably damaging	Het
Mapk1	A	T	16: 17,016,046	I88F	probably benign	Het
Mpg	A	T	11: 32,231,853	H287L	probably benign	Het
Mpp4	A	T	1: 59,124,727	Y489*	probably null	Het
Mpzl1	T	C	1: 165,601,790	E224G	probably damaging	Het
Myh10	A	G	11: 68,811,599		probably null	Het
Olfr1034	T	C	2: 86,047,204	S241P	probably damaging	Het
Olfr1340	T	A	4: 118,726,634	I129K	probably damaging	Het
Paip1	T	A	13: 119,447,790	F196I	probably damaging	Het
Pde3a	A	T	6: 141,498,657	K1064*	probably null	Het
Pira2	A	T	7: 3,844,197		probably benign	Het
Pros1	A	G	16: 62,903,518	S210G	probably benign	Het
Rbm15	A	T	3: 107,331,369	L571Q	probably damaging	Het
Scn1a	T	A	2: 66,302,407	T1194S	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Serpina1e	G	A	12: 103,949,227	T240I	probably benign	Het
Setx	T	G	2: 29,157,133	S1874R	probably benign	Het
Sgsm2	G	T	11: 74,867,651	T256K	possibly damaging	Het
Slc44a1	T	C	4: 53,542,366	V300A	probably damaging	Het
Spata46	A	G	1: 170,311,609	Y59C	probably damaging	Het
Supt3	T	C	17: 45,119,271	F404L	probably benign	Het
Tars	T	A	15: 11,394,366	K62*	probably null	Het
Tas2r139	A	C	6: 42,141,491	T186P	probably damaging	Het
Tc2n	C	T	12: 101,649,195	S457N	probably damaging	Het
Tox4	A	T	14: 52,292,628	S582C	probably benign	Het
Trappc12	T	C	12: 28,697,134		probably benign	Het
Ubqlnl	G	T	7: 104,148,638	Q551K	probably damaging	Het
Ubr4	A	G	4: 139,392,124	T205A	probably benign	Het
Urb1	G	A	16: 90,777,422	Q924*	probably null	Het
Vmn1r49	A	G	6: 90,072,738	L94P	probably damaging	Het
Vmn2r120	T	C	17: 57,508,949	Y802C	probably damaging	Het
Xrcc1	C	T	7: 24,570,319		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
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
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'- GACCACCTCAATGGCTACAAGATGG -3'
(R):5'- GCTTTAGGACAACCTTCCTGGCAC -3'

Sequencing Primer
(F):5'- GGCCAGTTCTGTCTACTCCTG -3'
(R):5'- CCATCATCCTTTTCTACTGGACTAAG -3'

Posted On

2013-06-12