Mutagenetix > Incidental Mutations

Incidental Mutation 'R7724:Helz2'

595378

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7724 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181227615-181242027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181231996 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2235 (Y2235C)

Ref Sequence

ENSEMBL: ENSMUSP00000091756 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094203
AA Change: Y2235C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: Y2235C

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: ENSMUST00000108831
AA Change: Y2235C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: Y2235C

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: Y2235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: Y2235C

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,250	N148D	possibly damaging	Het
9130401M01Rik	A	C	15: 58,022,461	S342A	probably benign	Het
Adarb2	C	A	13: 8,570,256	H259Q	probably benign	Het
Ak7	T	A	12: 105,716,030	I150N	probably damaging	Het
Arhgef12	A	T	9: 43,027,271	I75N	probably damaging	Het
Arhgef17	C	T	7: 100,880,609	G480S	probably damaging	Het
Atic	T	C	1: 71,564,901	Y208H	probably damaging	Het
Atp8b4	T	A	2: 126,322,893	N1168Y	possibly damaging	Het
Cdh15	G	T	8: 122,866,961	D765Y	probably damaging	Het
Celf4	C	T	18: 25,486,793		probably null	Het
Cep57l1	G	A	10: 41,745,842	T26M	possibly damaging	Het
Ces2g	T	A	8: 104,966,852	D388E	probably benign	Het
Cir1	T	C	2: 73,306,890	N69S	possibly damaging	Het
Ctc1	C	A	11: 69,026,344	H355N	probably benign	Het
Ebf2	A	T	14: 67,424,040	K539M	probably damaging	Het
Ehbp1	G	A	11: 22,089,572	H843Y	probably null	Het
Fat2	C	T	11: 55,284,796	G1697E	probably damaging	Het
Fga	A	G	3: 83,029,125	D76G	probably damaging	Het
Fn1	A	T	1: 71,603,735	S1786T	probably benign	Het
Frmpd1	A	T	4: 45,229,888	E18D	probably damaging	Het
Gbp8	A	T	5: 105,031,294	I113N	probably damaging	Het
Gm10549	A	T	18: 33,470,859	R132*	probably null	Het
Gmps	T	A	3: 63,985,653	D126E	possibly damaging	Het
Gria4	A	G	9: 4,472,074	Y472H	probably damaging	Het
Hrnr	A	G	3: 93,323,016	N187S	unknown	Het
Ifit1bl1	T	C	19: 34,594,005	K351E	probably benign	Het
Klhl23	A	G	2: 69,824,712	T309A	probably benign	Het
Ldhal6b	A	G	17: 5,418,602	V19A	probably benign	Het
Lrrc59	C	T	11: 94,643,344	R243C	probably damaging	Het
Magi3	A	C	3: 104,015,927	I1158R	probably benign	Het
Mical2	T	A	7: 112,323,626	Y613N	probably damaging	Het
Myoc	T	A	1: 162,639,827		probably null	Het
Npas3	C	A	12: 54,068,341	S682Y	possibly damaging	Het
Ogdh	T	C	11: 6,324,887	V172A	probably benign	Het
Olfr1076	A	G	2: 86,508,605	T49A	probably damaging	Het
Olfr284	A	T	15: 98,340,894	S32T	possibly damaging	Het
Olfr325	T	A	11: 58,581,382	H179Q	probably benign	Het
Olfr584	T	A	7: 103,086,263	C243*	probably null	Het
Olfr682-ps1	A	G	7: 105,128,252	Y52H	probably damaging	Het
P2rx7	A	T	5: 122,673,373	I331F	probably benign	Het
Pcdhb14	A	T	18: 37,448,884	T348S	possibly damaging	Het
Prdx6b	A	G	2: 80,293,402	E185G	probably benign	Het
Rdh1	A	G	10: 127,764,707	K200E	possibly damaging	Het
Sema6c	A	T	3: 95,173,199	R935W	probably damaging	Het
Serpinb5	A	T	1: 106,875,142	I136F	probably damaging	Het
Skint10	A	T	4: 112,765,092	Y31*	probably null	Het
St6galnac1	C	T	11: 116,766,072		probably null	Het
Synj1	G	A	16: 90,961,499	T819M	probably damaging	Het
Tacr3	T	A	3: 134,929,908	V291E	probably damaging	Het
Tdo2	A	G	3: 81,968,083		probably null	Het
Tex15	T	A	8: 33,546,263	D72E	possibly damaging	Het
Tph2	T	C	10: 115,079,822	T438A	probably benign	Het
Uaca	A	G	9: 60,869,905	T525A	probably benign	Het
Ulk1	A	T	5: 110,792,404	C384S	probably benign	Het
Uvrag	T	C	7: 98,991,963	D290G	probably benign	Het
Zfp541	T	C	7: 16,071,994	L18P	probably 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
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
X0064:Helz2	UTSW	2	181231741	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATATACCTGCTTGGGCGC -3'
(R):5'- TTCAAGTCGGCGAGTACTCAG -3'

Sequencing Primer
(F):5'- CGATCATCCACATTCTCCTGG -3'
(R):5'- GCGAGTACTCAGGTGCCTG -3'

Posted On

2019-11-12