Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Helz2'

189005

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181234147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1518 (E1518G)

Ref Sequence

ENSEMBL: ENSMUSP00000112917 (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: E1518G

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: E1518G

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: E1518G

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: E1518G

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 damaging
Transcript: ENSMUST00000121484
AA Change: E1518G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: E1518G

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: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	A	T	9: 51,083,621	I136N	probably damaging	Het
9530053A07Rik	A	T	7: 28,147,110	N1076Y	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,333		probably benign	Het
Abca1	C	T	4: 53,050,964	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340	T19K	unknown	Het
Disp1	A	T	1: 183,087,004	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866		probably null	Het
Ermn	C	T	2: 58,052,584	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318	V2189A	probably damaging	Het
Filip1l	T	C	16: 57,571,851	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905	V248F	probably damaging	Het
Hmcn1	A	G	1: 150,630,333	V3814A	probably benign	Het
Ifna7	A	G	4: 88,816,660	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245		probably null	Het
Nlrp4a	A	T	7: 26,449,651	I228F	possibly damaging	Het
Olfr1047	A	G	2: 86,228,080	V297A	possibly damaging	Het
Olfr1339	A	G	4: 118,734,999	S157G	probably benign	Het
Olfr368	A	G	2: 37,331,939	Y64C	probably damaging	Het
Olfr483	A	T	7: 108,103,464	I52F	probably damaging	Het
Paxx	T	C	2: 25,460,316	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922	F259Y	probably damaging	Het
Pus7	T	A	5: 23,747,800	K512*	probably null	Het
Ralyl	A	T	3: 14,107,236	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782	D427G	probably benign	Het
Scai	A	T	2: 39,080,117	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Supt5	T	C	7: 28,330,024	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216	Y346*	probably null	Het
Tg	T	G	15: 66,828,568		probably null	Het
Top1	T	A	2: 160,703,696		probably null	Het
Trmt12	T	C	15: 58,873,227	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051	V999E	probably benign	Het
Virma	T	C	4: 11,494,786	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554	V709A	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
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'- AGCAATATGCACTGCCACCTCG -3'
(R):5'- GATGAAGGACCCACAGCAAGTTCC -3'

Sequencing Primer
(F):5'- CTAGGTCTCGGACACTAAGAGC -3'
(R):5'- GCAAGTTCCCATCCACCG -3'

Posted On

2014-05-09