Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00704:Helz2'

9220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00704

Quality Score

Status

Chromosome

Chromosomal Location

180869408-180883820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180876178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1439 (C1439R)

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 damaging
Transcript: ENSMUST00000094203
AA Change: C1439R

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

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: C1439R

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: C1439R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: C1439R

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: C1439R

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

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: C1439R

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

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,736,257 (GRCm39)	I217F	probably benign	Het
Agfg1	C	T	1: 82,836,124 (GRCm39)	T3I	probably damaging	Het
Anapc1	A	T	2: 128,505,904 (GRCm39)	V644E	possibly damaging	Het
Casd1	A	T	6: 4,607,979 (GRCm39)		probably benign	Het
Chd1	T	C	17: 15,952,827 (GRCm39)	V369A	probably benign	Het
Cul2	T	C	18: 3,423,487 (GRCm39)	V299A	probably benign	Het
Mfsd11	T	C	11: 116,749,322 (GRCm39)	F59L	probably benign	Het
Nlrp4e	A	T	7: 23,042,565 (GRCm39)	D817V	probably damaging	Het
Phf3	C	T	1: 30,843,919 (GRCm39)	G1680D	probably benign	Het
Pip4k2a	G	T	2: 18,877,147 (GRCm39)	T196K	probably benign	Het
Plxna2	T	A	1: 194,433,769 (GRCm39)	V606E	probably damaging	Het
Slc4a2	A	C	5: 24,644,066 (GRCm39)	I931L	probably damaging	Het
Stk32a	T	C	18: 43,394,314 (GRCm39)	Y88H	probably damaging	Het
Uba2	T	C	7: 33,858,294 (GRCm39)	N54S	probably damaging	Het

Other mutations in Helz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Helz2	APN	2	180,871,495 (GRCm39)	missense	probably damaging	1.00
IGL00515:Helz2	APN	2	180,874,799 (GRCm39)	nonsense	probably null
IGL00847:Helz2	APN	2	180,874,038 (GRCm39)	missense	possibly damaging	0.73
IGL01448:Helz2	APN	2	180,875,770 (GRCm39)	missense	probably damaging	1.00
IGL01783:Helz2	APN	2	180,874,674 (GRCm39)	missense	probably damaging	1.00
IGL01790:Helz2	APN	2	180,880,274 (GRCm39)	missense	probably benign	0.29
IGL02116:Helz2	APN	2	180,873,978 (GRCm39)	missense	probably damaging	1.00
IGL02226:Helz2	APN	2	180,873,483 (GRCm39)	missense	probably damaging	1.00
IGL02402:Helz2	APN	2	180,872,704 (GRCm39)	missense	probably damaging	1.00
IGL02403:Helz2	APN	2	180,872,815 (GRCm39)	missense	probably damaging	1.00
IGL02733:Helz2	APN	2	180,876,819 (GRCm39)	missense	probably benign	0.14
IGL02869:Helz2	APN	2	180,872,939 (GRCm39)	intron	probably benign
IGL03003:Helz2	APN	2	180,882,046 (GRCm39)	missense	probably damaging	1.00
IGL03060:Helz2	APN	2	180,871,015 (GRCm39)	critical splice donor site	probably null
IGL03310:Helz2	APN	2	180,873,597 (GRCm39)	missense	probably benign	0.00
Colby	UTSW	2	180,874,995 (GRCm39)	missense	probably damaging	1.00
ANU74:Helz2	UTSW	2	180,876,627 (GRCm39)	missense	probably benign	0.03
R0013:Helz2	UTSW	2	180,882,752 (GRCm39)	missense	probably benign
R0013:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0014:Helz2	UTSW	2	180,882,304 (GRCm39)	missense	probably damaging	1.00
R0014:Helz2	UTSW	2	180,882,304 (GRCm39)	missense	probably damaging	1.00
R0016:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0018:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0055:Helz2	UTSW	2	180,870,614 (GRCm39)	missense	possibly damaging	0.47
R0055:Helz2	UTSW	2	180,870,614 (GRCm39)	missense	possibly damaging	0.47
R0071:Helz2	UTSW	2	180,878,200 (GRCm39)	missense	probably damaging	1.00
R0071:Helz2	UTSW	2	180,878,200 (GRCm39)	missense	probably damaging	1.00
R0111:Helz2	UTSW	2	180,879,595 (GRCm39)	missense	probably benign	0.30
R0117:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0135:Helz2	UTSW	2	180,874,062 (GRCm39)	missense	probably damaging	1.00
R0194:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	180,872,223 (GRCm39)	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	180,872,223 (GRCm39)	missense	probably damaging	1.00
R0254:Helz2	UTSW	2	180,874,552 (GRCm39)	missense	probably damaging	1.00
R0410:Helz2	UTSW	2	180,872,386 (GRCm39)	missense	probably damaging	1.00
R0442:Helz2	UTSW	2	180,874,002 (GRCm39)	missense	probably damaging	0.97
R0497:Helz2	UTSW	2	180,871,449 (GRCm39)	missense	probably damaging	0.97
R0517:Helz2	UTSW	2	180,869,563 (GRCm39)	missense	probably benign	0.00
R0541:Helz2	UTSW	2	180,876,618 (GRCm39)	missense	possibly damaging	0.89
R0542:Helz2	UTSW	2	180,873,882 (GRCm39)	missense	probably damaging	1.00
R0591:Helz2	UTSW	2	180,873,909 (GRCm39)	missense	probably damaging	0.96
R0692:Helz2	UTSW	2	180,882,674 (GRCm39)	missense	probably benign
R0826:Helz2	UTSW	2	180,882,646 (GRCm39)	missense	possibly damaging	0.51
R0834:Helz2	UTSW	2	180,872,570 (GRCm39)	missense	probably damaging	1.00
R0880:Helz2	UTSW	2	180,877,928 (GRCm39)	missense	probably benign
R1170:Helz2	UTSW	2	180,871,608 (GRCm39)	missense	probably damaging	1.00
R1186:Helz2	UTSW	2	180,872,921 (GRCm39)	missense	probably damaging	1.00
R1344:Helz2	UTSW	2	180,879,389 (GRCm39)	missense	possibly damaging	0.89
R1358:Helz2	UTSW	2	180,874,774 (GRCm39)	missense	probably damaging	1.00
R1436:Helz2	UTSW	2	180,877,317 (GRCm39)	missense	probably damaging	0.99
R1464:Helz2	UTSW	2	180,881,447 (GRCm39)	missense	probably damaging	1.00
R1464:Helz2	UTSW	2	180,881,447 (GRCm39)	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	180,878,090 (GRCm39)	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	180,878,090 (GRCm39)	missense	probably damaging	1.00
R1477:Helz2	UTSW	2	180,874,597 (GRCm39)	missense	probably benign	0.00
R1564:Helz2	UTSW	2	180,875,021 (GRCm39)	missense	probably benign	0.01
R1584:Helz2	UTSW	2	180,878,090 (GRCm39)	missense	probably damaging	1.00
R1655:Helz2	UTSW	2	180,875,940 (GRCm39)	missense	probably damaging	0.99
R1757:Helz2	UTSW	2	180,878,056 (GRCm39)	missense	probably damaging	1.00
R1779:Helz2	UTSW	2	180,880,252 (GRCm39)	missense	possibly damaging	0.84
R1779:Helz2	UTSW	2	180,876,780 (GRCm39)	missense	probably benign
R1837:Helz2	UTSW	2	180,871,082 (GRCm39)	missense	probably damaging	1.00
R1845:Helz2	UTSW	2	180,873,878 (GRCm39)	missense	probably benign	0.02
R1894:Helz2	UTSW	2	180,876,082 (GRCm39)	missense	probably damaging	1.00
R1913:Helz2	UTSW	2	180,875,543 (GRCm39)	missense	probably damaging	1.00
R2005:Helz2	UTSW	2	180,873,122 (GRCm39)	missense	probably benign	0.45
R2034:Helz2	UTSW	2	180,874,371 (GRCm39)	missense	probably damaging	1.00
R2036:Helz2	UTSW	2	180,879,272 (GRCm39)	missense	probably benign	0.03
R2061:Helz2	UTSW	2	180,882,337 (GRCm39)	missense	probably damaging	1.00
R2088:Helz2	UTSW	2	180,876,895 (GRCm39)	missense	probably benign	0.07
R2142:Helz2	UTSW	2	180,873,173 (GRCm39)	missense	probably benign
R2180:Helz2	UTSW	2	180,875,525 (GRCm39)	missense	probably damaging	1.00
R2192:Helz2	UTSW	2	180,870,841 (GRCm39)	nonsense	probably null
R2248:Helz2	UTSW	2	180,875,226 (GRCm39)	missense	probably benign	0.33
R2495:Helz2	UTSW	2	180,874,705 (GRCm39)	missense	probably damaging	0.99
R2886:Helz2	UTSW	2	180,882,535 (GRCm39)	missense	probably benign
R3617:Helz2	UTSW	2	180,874,854 (GRCm39)	missense	probably damaging	1.00
R3776:Helz2	UTSW	2	180,882,182 (GRCm39)	nonsense	probably null
R3803:Helz2	UTSW	2	180,881,789 (GRCm39)	missense	probably damaging	0.96
R4043:Helz2	UTSW	2	180,871,503 (GRCm39)	missense	probably benign	0.00
R4052:Helz2	UTSW	2	180,882,268 (GRCm39)	missense	probably damaging	1.00
R4232:Helz2	UTSW	2	180,871,695 (GRCm39)	missense	probably damaging	1.00
R4521:Helz2	UTSW	2	180,870,626 (GRCm39)	missense	probably benign
R4624:Helz2	UTSW	2	180,881,101 (GRCm39)	missense	probably damaging	0.99
R4720:Helz2	UTSW	2	180,880,210 (GRCm39)	missense	probably damaging	1.00
R4831:Helz2	UTSW	2	180,879,210 (GRCm39)	missense	probably damaging	1.00
R4852:Helz2	UTSW	2	180,871,913 (GRCm39)	missense	probably damaging	1.00
R4894:Helz2	UTSW	2	180,877,940 (GRCm39)	missense	probably benign	0.01
R4915:Helz2	UTSW	2	180,874,231 (GRCm39)	missense	possibly damaging	0.80
R4965:Helz2	UTSW	2	180,882,709 (GRCm39)	missense	possibly damaging	0.79
R5022:Helz2	UTSW	2	180,882,362 (GRCm39)	missense	probably benign
R5089:Helz2	UTSW	2	180,876,942 (GRCm39)	missense	probably benign	0.14
R5190:Helz2	UTSW	2	180,872,550 (GRCm39)	critical splice donor site	probably null
R5309:Helz2	UTSW	2	180,876,639 (GRCm39)	missense	probably benign	0.08
R5358:Helz2	UTSW	2	180,877,321 (GRCm39)	missense	probably damaging	1.00
R5379:Helz2	UTSW	2	180,876,862 (GRCm39)	missense	probably benign
R5559:Helz2	UTSW	2	180,871,919 (GRCm39)	missense	probably damaging	0.98
R5591:Helz2	UTSW	2	180,882,051 (GRCm39)	missense	probably damaging	0.99
R5596:Helz2	UTSW	2	180,879,082 (GRCm39)	intron	probably benign
R5805:Helz2	UTSW	2	180,882,301 (GRCm39)	missense	probably damaging	1.00
R5823:Helz2	UTSW	2	180,878,189 (GRCm39)	missense	possibly damaging	0.92
R5825:Helz2	UTSW	2	180,874,449 (GRCm39)	missense	probably benign	0.02
R5873:Helz2	UTSW	2	180,875,821 (GRCm39)	missense	possibly damaging	0.78
R5928:Helz2	UTSW	2	180,872,177 (GRCm39)	missense	possibly damaging	0.82
R5936:Helz2	UTSW	2	180,872,560 (GRCm39)	missense	probably damaging	1.00
R5975:Helz2	UTSW	2	180,872,843 (GRCm39)	missense	probably benign	0.08
R6045:Helz2	UTSW	2	180,882,106 (GRCm39)	missense	probably benign	0.03
R6077:Helz2	UTSW	2	180,874,831 (GRCm39)	missense	probably benign	0.41
R6218:Helz2	UTSW	2	180,874,087 (GRCm39)	missense	probably benign	0.03
R6218:Helz2	UTSW	2	180,877,738 (GRCm39)	missense	probably damaging	1.00
R6315:Helz2	UTSW	2	180,874,995 (GRCm39)	missense	probably damaging	1.00
R6346:Helz2	UTSW	2	180,875,260 (GRCm39)	missense	probably damaging	1.00
R6371:Helz2	UTSW	2	180,875,260 (GRCm39)	missense	probably damaging	1.00
R6372:Helz2	UTSW	2	180,875,260 (GRCm39)	missense	probably damaging	1.00
R6373:Helz2	UTSW	2	180,875,260 (GRCm39)	missense	probably damaging	1.00
R6385:Helz2	UTSW	2	180,875,260 (GRCm39)	missense	probably damaging	1.00
R6464:Helz2	UTSW	2	180,876,862 (GRCm39)	missense	probably benign
R6581:Helz2	UTSW	2	180,871,172 (GRCm39)	missense	probably damaging	0.99
R6651:Helz2	UTSW	2	180,881,350 (GRCm39)	nonsense	probably null
R6964:Helz2	UTSW	2	180,872,221 (GRCm39)	missense	probably damaging	1.00
R7061:Helz2	UTSW	2	180,882,307 (GRCm39)	missense	probably damaging	1.00
R7153:Helz2	UTSW	2	180,873,078 (GRCm39)	missense	probably benign	0.00
R7372:Helz2	UTSW	2	180,880,216 (GRCm39)	missense	possibly damaging	0.61
R7512:Helz2	UTSW	2	180,877,393 (GRCm39)	splice site	probably null
R7512:Helz2	UTSW	2	180,872,647 (GRCm39)	missense	probably benign	0.00
R7583:Helz2	UTSW	2	180,879,365 (GRCm39)	missense	probably benign	0.06
R7724:Helz2	UTSW	2	180,873,789 (GRCm39)	missense	probably damaging	1.00
R7733:Helz2	UTSW	2	180,872,148 (GRCm39)	missense	possibly damaging	0.63
R7748:Helz2	UTSW	2	180,876,324 (GRCm39)	missense	probably damaging	1.00
R7774:Helz2	UTSW	2	180,875,784 (GRCm39)	missense	probably benign
R7799:Helz2	UTSW	2	180,879,782 (GRCm39)	missense	probably benign	0.15
R7841:Helz2	UTSW	2	180,874,695 (GRCm39)	missense	probably damaging	1.00
R7939:Helz2	UTSW	2	180,879,543 (GRCm39)	missense	probably damaging	0.99
R8026:Helz2	UTSW	2	180,881,998 (GRCm39)	missense	probably benign	0.34
R8030:Helz2	UTSW	2	180,879,689 (GRCm39)	missense	possibly damaging	0.55
R8080:Helz2	UTSW	2	180,880,055 (GRCm39)	missense	probably damaging	0.99
R8237:Helz2	UTSW	2	180,871,124 (GRCm39)	missense	possibly damaging	0.65
R8245:Helz2	UTSW	2	180,879,895 (GRCm39)	missense	probably damaging	1.00
R8304:Helz2	UTSW	2	180,871,950 (GRCm39)	missense	probably benign	0.03
R8486:Helz2	UTSW	2	180,871,124 (GRCm39)	missense	probably damaging	1.00
R8556:Helz2	UTSW	2	180,871,350 (GRCm39)	missense	probably damaging	1.00
R8878:Helz2	UTSW	2	180,874,560 (GRCm39)	missense	possibly damaging	0.67
R8907:Helz2	UTSW	2	180,874,920 (GRCm39)	missense	possibly damaging	0.47
R8911:Helz2	UTSW	2	180,880,173 (GRCm39)	missense
R8953:Helz2	UTSW	2	180,874,884 (GRCm39)	missense	probably damaging	1.00
R8963:Helz2	UTSW	2	180,871,407 (GRCm39)	missense	probably damaging	1.00
R8969:Helz2	UTSW	2	180,879,581 (GRCm39)	missense	probably benign	0.19
R8976:Helz2	UTSW	2	180,876,486 (GRCm39)	missense	possibly damaging	0.46
R9015:Helz2	UTSW	2	180,870,792 (GRCm39)	missense	probably damaging	1.00
R9031:Helz2	UTSW	2	180,874,261 (GRCm39)	missense	possibly damaging	0.78
R9052:Helz2	UTSW	2	180,881,968 (GRCm39)	missense	possibly damaging	0.78
R9089:Helz2	UTSW	2	180,881,433 (GRCm39)	missense	probably damaging	1.00
R9145:Helz2	UTSW	2	180,881,848 (GRCm39)	missense	probably damaging	1.00
R9185:Helz2	UTSW	2	180,871,883 (GRCm39)	missense	probably benign
R9186:Helz2	UTSW	2	180,876,457 (GRCm39)	missense	possibly damaging	0.57
R9373:Helz2	UTSW	2	180,882,741 (GRCm39)	missense	probably benign
R9407:Helz2	UTSW	2	180,881,975 (GRCm39)	missense	probably benign	0.01
R9465:Helz2	UTSW	2	180,874,710 (GRCm39)	missense	probably benign	0.01
R9502:Helz2	UTSW	2	180,878,245 (GRCm39)	missense	possibly damaging	0.47
R9538:Helz2	UTSW	2	180,882,014 (GRCm39)	missense	probably damaging	1.00
R9554:Helz2	UTSW	2	180,882,470 (GRCm39)	missense	probably damaging	0.96
R9659:Helz2	UTSW	2	180,882,025 (GRCm39)	missense	probably benign	0.00
R9800:Helz2	UTSW	2	180,882,616 (GRCm39)	missense	probably damaging	0.99
X0064:Helz2	UTSW	2	180,873,534 (GRCm39)	missense	probably damaging	1.00
Z1176:Helz2	UTSW	2	180,879,357 (GRCm39)	missense	probably benign	0.39
Z1177:Helz2	UTSW	2	180,877,754 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06