Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Helz2'

354354

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4720 (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 181238417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 502 (D502G)

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: D502G

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

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: D502G

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: D502G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: D502G

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: D502G

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

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: D502G

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,127,422 (GRCm38)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,229,914 (GRCm38)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,135,773 (GRCm38)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,699,011 (GRCm38)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,441,426 (GRCm38)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,756,674 (GRCm38)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,203,122 (GRCm38)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,500 (GRCm38)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,857,715 (GRCm38)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,484,875 (GRCm38)		probably benign	Het
Ccnyl1	A	G	1: 64,713,131 (GRCm38)	D169G	probably benign	Het
Cdca3	T	A	6: 124,832,164 (GRCm38)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,895,381 (GRCm38)		probably null	Het
Chka	G	A	19: 3,886,375 (GRCm38)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,242,022 (GRCm38)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,539,817 (GRCm38)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,195,715 (GRCm38)		probably null	Het
Dnah8	C	T	17: 30,683,634 (GRCm38)	L889F	probably benign	Het
Dnah9	T	C	11: 66,076,358 (GRCm38)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 151,968,539 (GRCm38)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,233,674 (GRCm38)	S121A	probably damaging	Het
Ece1	G	A	4: 137,957,175 (GRCm38)	E591K	probably damaging	Het
Enthd1	G	A	15: 80,560,309 (GRCm38)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,471,626 (GRCm38)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,866,747 (GRCm38)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,543,437 (GRCm38)	T208M	probably benign	Het
Flacc1	T	C	1: 58,678,348 (GRCm38)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 53,107,540 (GRCm38)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,383,525 (GRCm38)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,270,063 (GRCm38)	D319E	probably benign	Het
Gucd1	A	G	10: 75,509,660 (GRCm38)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 123,864,689 (GRCm38)		probably null	Het
Hspa2	A	G	12: 76,404,865 (GRCm38)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,645,059 (GRCm38)	S162T	probably damaging	Het
Ift80	A	G	3: 68,962,290 (GRCm38)	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,446,678 (GRCm38)	K330E	probably benign	Het
Il23r	A	T	6: 67,423,661 (GRCm38)	F562I	probably damaging	Het
Isx	T	C	8: 74,873,859 (GRCm38)		probably null	Het
Jcad	G	A	18: 4,674,055 (GRCm38)	V606I	probably benign	Het
Kcnn2	A	T	18: 45,683,120 (GRCm38)	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,403,050 (GRCm38)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,171,749 (GRCm38)	M188V	probably benign	Het
Kntc1	T	C	5: 123,765,023 (GRCm38)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,780,445 (GRCm38)		probably benign	Het
Lcor	G	C	19: 41,585,895 (GRCm38)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,398,469 (GRCm38)	L52R	probably damaging	Het
Lipk	C	A	19: 34,021,699 (GRCm38)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,763,667 (GRCm38)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,481,173 (GRCm38)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 180,027,981 (GRCm38)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,669,465 (GRCm38)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,293,719 (GRCm38)	S211P	probably damaging	Het
Mlph	A	T	1: 90,941,697 (GRCm38)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,783,746 (GRCm38)	S142P	probably damaging	Het
Nemf	A	C	12: 69,324,288 (GRCm38)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,827,689 (GRCm38)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,556,306 (GRCm38)	D122E	probably benign	Het
Noc3l	C	A	19: 38,789,622 (GRCm38)	A783S	probably benign	Het
Nol8	T	C	13: 49,662,753 (GRCm38)	V761A	probably damaging	Het
Nvl	A	G	1: 181,101,587 (GRCm38)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,812,472 (GRCm38)	I207F	probably benign	Het
Plcb1	A	G	2: 135,251,747 (GRCm38)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,578,322 (GRCm38)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,075,420 (GRCm38)		probably null	Het
Popdc3	G	A	10: 45,314,906 (GRCm38)	V38I	probably benign	Het
Prdx3	A	T	19: 60,870,113 (GRCm38)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,667,715 (GRCm38)	S469T	probably benign	Het
Rbm22	G	A	18: 60,564,391 (GRCm38)	R56H	probably damaging	Het
Reln	A	T	5: 22,286,896 (GRCm38)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,427,481 (GRCm38)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,929,020 (GRCm38)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,130,630 (GRCm38)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,861,183 (GRCm38)		probably null	Het
Slc22a4	A	T	11: 53,988,893 (GRCm38)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,723,222 (GRCm38)	A495S	probably damaging	Het
Stx19	G	T	16: 62,822,319 (GRCm38)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm38)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,374,432 (GRCm38)	S746R	probably benign	Het
Tchh	G	T	3: 93,447,882 (GRCm38)	R1543L	unknown	Het
Tjp2	T	C	19: 24,100,805 (GRCm38)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,979,809 (GRCm38)	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,003,883 (GRCm38)	W709R	probably null	Het
Unc80	T	A	1: 66,510,792 (GRCm38)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,526 (GRCm38)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,023,470 (GRCm38)		probably null	Het
Vmn2r88	T	A	14: 51,413,245 (GRCm38)	D138E	probably benign	Het
Vwce	T	C	19: 10,648,467 (GRCm38)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,822,485 (GRCm38)	S695F	probably benign	Het
Zfand4	T	C	6: 116,288,161 (GRCm38)		probably null	Het
Zfp511	T	A	7: 140,037,511 (GRCm38)		probably null	Het
Zfyve9	T	C	4: 108,644,368 (GRCm38)	K584E	possibly damaging	Het

Other mutations in Helz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Helz2	APN	2	181,229,702 (GRCm38)	missense	probably damaging	1.00
IGL00515:Helz2	APN	2	181,233,006 (GRCm38)	nonsense	probably null
IGL00704:Helz2	APN	2	181,234,385 (GRCm38)	missense	probably damaging	1.00
IGL00847:Helz2	APN	2	181,232,245 (GRCm38)	missense	possibly damaging	0.73
IGL01448:Helz2	APN	2	181,233,977 (GRCm38)	missense	probably damaging	1.00
IGL01783:Helz2	APN	2	181,232,881 (GRCm38)	missense	probably damaging	1.00
IGL01790:Helz2	APN	2	181,238,481 (GRCm38)	missense	probably benign	0.29
IGL02116:Helz2	APN	2	181,232,185 (GRCm38)	missense	probably damaging	1.00
IGL02226:Helz2	APN	2	181,231,690 (GRCm38)	missense	probably damaging	1.00
IGL02402:Helz2	APN	2	181,230,911 (GRCm38)	missense	probably damaging	1.00
IGL02403:Helz2	APN	2	181,231,022 (GRCm38)	missense	probably damaging	1.00
IGL02733:Helz2	APN	2	181,235,026 (GRCm38)	missense	probably benign	0.14
IGL02869:Helz2	APN	2	181,231,146 (GRCm38)	intron	probably benign
IGL03003:Helz2	APN	2	181,240,253 (GRCm38)	missense	probably damaging	1.00
IGL03060:Helz2	APN	2	181,229,222 (GRCm38)	critical splice donor site	probably null
IGL03310:Helz2	APN	2	181,231,804 (GRCm38)	missense	probably benign	0.00
Colby	UTSW	2	181,233,202 (GRCm38)	missense	probably damaging	1.00
ANU74:Helz2	UTSW	2	181,234,834 (GRCm38)	missense	probably benign	0.03
R0013:Helz2	UTSW	2	181,240,959 (GRCm38)	missense	probably benign
R0013:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0014:Helz2	UTSW	2	181,240,511 (GRCm38)	missense	probably damaging	1.00
R0014:Helz2	UTSW	2	181,240,511 (GRCm38)	missense	probably damaging	1.00
R0016:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0018:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0019:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0055:Helz2	UTSW	2	181,228,821 (GRCm38)	missense	possibly damaging	0.47
R0055:Helz2	UTSW	2	181,228,821 (GRCm38)	missense	possibly damaging	0.47
R0071:Helz2	UTSW	2	181,236,407 (GRCm38)	missense	probably damaging	1.00
R0071:Helz2	UTSW	2	181,236,407 (GRCm38)	missense	probably damaging	1.00
R0111:Helz2	UTSW	2	181,237,802 (GRCm38)	missense	probably benign	0.30
R0117:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0135:Helz2	UTSW	2	181,232,269 (GRCm38)	missense	probably damaging	1.00
R0194:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	181,230,430 (GRCm38)	missense	probably damaging	1.00
R0242:Helz2	UTSW	2	181,230,430 (GRCm38)	missense	probably damaging	1.00
R0254:Helz2	UTSW	2	181,232,759 (GRCm38)	missense	probably damaging	1.00
R0410:Helz2	UTSW	2	181,230,593 (GRCm38)	missense	probably damaging	1.00
R0442:Helz2	UTSW	2	181,232,209 (GRCm38)	missense	probably damaging	0.97
R0497:Helz2	UTSW	2	181,229,656 (GRCm38)	missense	probably damaging	0.97
R0517:Helz2	UTSW	2	181,227,770 (GRCm38)	missense	probably benign	0.00
R0541:Helz2	UTSW	2	181,234,825 (GRCm38)	missense	possibly damaging	0.89
R0542:Helz2	UTSW	2	181,232,089 (GRCm38)	missense	probably damaging	1.00
R0591:Helz2	UTSW	2	181,232,116 (GRCm38)	missense	probably damaging	0.96
R0692:Helz2	UTSW	2	181,240,881 (GRCm38)	missense	probably benign
R0826:Helz2	UTSW	2	181,240,853 (GRCm38)	missense	possibly damaging	0.51
R0834:Helz2	UTSW	2	181,230,777 (GRCm38)	missense	probably damaging	1.00
R0880:Helz2	UTSW	2	181,236,135 (GRCm38)	missense	probably benign
R1170:Helz2	UTSW	2	181,229,815 (GRCm38)	missense	probably damaging	1.00
R1186:Helz2	UTSW	2	181,231,128 (GRCm38)	missense	probably damaging	1.00
R1344:Helz2	UTSW	2	181,237,596 (GRCm38)	missense	possibly damaging	0.89
R1358:Helz2	UTSW	2	181,232,981 (GRCm38)	missense	probably damaging	1.00
R1436:Helz2	UTSW	2	181,235,524 (GRCm38)	missense	probably damaging	0.99
R1464:Helz2	UTSW	2	181,239,654 (GRCm38)	missense	probably damaging	1.00
R1464:Helz2	UTSW	2	181,239,654 (GRCm38)	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	181,236,297 (GRCm38)	missense	probably damaging	1.00
R1466:Helz2	UTSW	2	181,236,297 (GRCm38)	missense	probably damaging	1.00
R1477:Helz2	UTSW	2	181,232,804 (GRCm38)	missense	probably benign	0.00
R1564:Helz2	UTSW	2	181,233,228 (GRCm38)	missense	probably benign	0.01
R1584:Helz2	UTSW	2	181,236,297 (GRCm38)	missense	probably damaging	1.00
R1655:Helz2	UTSW	2	181,234,147 (GRCm38)	missense	probably damaging	0.99
R1757:Helz2	UTSW	2	181,236,263 (GRCm38)	missense	probably damaging	1.00
R1779:Helz2	UTSW	2	181,238,459 (GRCm38)	missense	possibly damaging	0.84
R1779:Helz2	UTSW	2	181,234,987 (GRCm38)	missense	probably benign
R1837:Helz2	UTSW	2	181,229,289 (GRCm38)	missense	probably damaging	1.00
R1845:Helz2	UTSW	2	181,232,085 (GRCm38)	missense	probably benign	0.02
R1894:Helz2	UTSW	2	181,234,289 (GRCm38)	missense	probably damaging	1.00
R1913:Helz2	UTSW	2	181,233,750 (GRCm38)	missense	probably damaging	1.00
R2005:Helz2	UTSW	2	181,231,329 (GRCm38)	missense	probably benign	0.45
R2034:Helz2	UTSW	2	181,232,578 (GRCm38)	missense	probably damaging	1.00
R2036:Helz2	UTSW	2	181,237,479 (GRCm38)	missense	probably benign	0.03
R2061:Helz2	UTSW	2	181,240,544 (GRCm38)	missense	probably damaging	1.00
R2088:Helz2	UTSW	2	181,235,102 (GRCm38)	missense	probably benign	0.07
R2142:Helz2	UTSW	2	181,231,380 (GRCm38)	missense	probably benign
R2180:Helz2	UTSW	2	181,233,732 (GRCm38)	missense	probably damaging	1.00
R2192:Helz2	UTSW	2	181,229,048 (GRCm38)	nonsense	probably null
R2248:Helz2	UTSW	2	181,233,433 (GRCm38)	missense	probably benign	0.33
R2495:Helz2	UTSW	2	181,232,912 (GRCm38)	missense	probably damaging	0.99
R2886:Helz2	UTSW	2	181,240,742 (GRCm38)	missense	probably benign
R3617:Helz2	UTSW	2	181,233,061 (GRCm38)	missense	probably damaging	1.00
R3776:Helz2	UTSW	2	181,240,389 (GRCm38)	nonsense	probably null
R3803:Helz2	UTSW	2	181,239,996 (GRCm38)	missense	probably damaging	0.96
R4043:Helz2	UTSW	2	181,229,710 (GRCm38)	missense	probably benign	0.00
R4052:Helz2	UTSW	2	181,240,475 (GRCm38)	missense	probably damaging	1.00
R4232:Helz2	UTSW	2	181,229,902 (GRCm38)	missense	probably damaging	1.00
R4521:Helz2	UTSW	2	181,228,833 (GRCm38)	missense	probably benign
R4624:Helz2	UTSW	2	181,239,308 (GRCm38)	missense	probably damaging	0.99
R4831:Helz2	UTSW	2	181,237,417 (GRCm38)	missense	probably damaging	1.00
R4852:Helz2	UTSW	2	181,230,120 (GRCm38)	missense	probably damaging	1.00
R4894:Helz2	UTSW	2	181,236,147 (GRCm38)	missense	probably benign	0.01
R4915:Helz2	UTSW	2	181,232,438 (GRCm38)	missense	possibly damaging	0.80
R4965:Helz2	UTSW	2	181,240,916 (GRCm38)	missense	possibly damaging	0.79
R5022:Helz2	UTSW	2	181,240,569 (GRCm38)	missense	probably benign
R5089:Helz2	UTSW	2	181,235,149 (GRCm38)	missense	probably benign	0.14
R5190:Helz2	UTSW	2	181,230,757 (GRCm38)	critical splice donor site	probably null
R5309:Helz2	UTSW	2	181,234,846 (GRCm38)	missense	probably benign	0.08
R5358:Helz2	UTSW	2	181,235,528 (GRCm38)	missense	probably damaging	1.00
R5379:Helz2	UTSW	2	181,235,069 (GRCm38)	missense	probably benign
R5559:Helz2	UTSW	2	181,230,126 (GRCm38)	missense	probably damaging	0.98
R5591:Helz2	UTSW	2	181,240,258 (GRCm38)	missense	probably damaging	0.99
R5596:Helz2	UTSW	2	181,237,289 (GRCm38)	intron	probably benign
R5805:Helz2	UTSW	2	181,240,508 (GRCm38)	missense	probably damaging	1.00
R5823:Helz2	UTSW	2	181,236,396 (GRCm38)	missense	possibly damaging	0.92
R5825:Helz2	UTSW	2	181,232,656 (GRCm38)	missense	probably benign	0.02
R5873:Helz2	UTSW	2	181,234,028 (GRCm38)	missense	possibly damaging	0.78
R5928:Helz2	UTSW	2	181,230,384 (GRCm38)	missense	possibly damaging	0.82
R5936:Helz2	UTSW	2	181,230,767 (GRCm38)	missense	probably damaging	1.00
R5975:Helz2	UTSW	2	181,231,050 (GRCm38)	missense	probably benign	0.08
R6045:Helz2	UTSW	2	181,240,313 (GRCm38)	missense	probably benign	0.03
R6077:Helz2	UTSW	2	181,233,038 (GRCm38)	missense	probably benign	0.41
R6218:Helz2	UTSW	2	181,232,294 (GRCm38)	missense	probably benign	0.03
R6218:Helz2	UTSW	2	181,235,945 (GRCm38)	missense	probably damaging	1.00
R6315:Helz2	UTSW	2	181,233,202 (GRCm38)	missense	probably damaging	1.00
R6346:Helz2	UTSW	2	181,233,467 (GRCm38)	missense	probably damaging	1.00
R6371:Helz2	UTSW	2	181,233,467 (GRCm38)	missense	probably damaging	1.00
R6372:Helz2	UTSW	2	181,233,467 (GRCm38)	missense	probably damaging	1.00
R6373:Helz2	UTSW	2	181,233,467 (GRCm38)	missense	probably damaging	1.00
R6385:Helz2	UTSW	2	181,233,467 (GRCm38)	missense	probably damaging	1.00
R6464:Helz2	UTSW	2	181,235,069 (GRCm38)	missense	probably benign
R6581:Helz2	UTSW	2	181,229,379 (GRCm38)	missense	probably damaging	0.99
R6651:Helz2	UTSW	2	181,239,557 (GRCm38)	nonsense	probably null
R6964:Helz2	UTSW	2	181,230,428 (GRCm38)	missense	probably damaging	1.00
R7061:Helz2	UTSW	2	181,240,514 (GRCm38)	missense	probably damaging	1.00
R7153:Helz2	UTSW	2	181,231,285 (GRCm38)	missense	probably benign	0.00
R7372:Helz2	UTSW	2	181,238,423 (GRCm38)	missense	possibly damaging	0.61
R7512:Helz2	UTSW	2	181,235,600 (GRCm38)	splice site	probably null
R7512:Helz2	UTSW	2	181,230,854 (GRCm38)	missense	probably benign	0.00
R7583:Helz2	UTSW	2	181,237,572 (GRCm38)	missense	probably benign	0.06
R7724:Helz2	UTSW	2	181,231,996 (GRCm38)	missense	probably damaging	1.00
R7733:Helz2	UTSW	2	181,230,355 (GRCm38)	missense	possibly damaging	0.63
R7748:Helz2	UTSW	2	181,234,531 (GRCm38)	missense	probably damaging	1.00
R7774:Helz2	UTSW	2	181,233,991 (GRCm38)	missense	probably benign
R7799:Helz2	UTSW	2	181,237,989 (GRCm38)	missense	probably benign	0.15
R7841:Helz2	UTSW	2	181,232,902 (GRCm38)	missense	probably damaging	1.00
R7939:Helz2	UTSW	2	181,237,750 (GRCm38)	missense	probably damaging	0.99
R8026:Helz2	UTSW	2	181,240,205 (GRCm38)	missense	probably benign	0.34
R8030:Helz2	UTSW	2	181,237,896 (GRCm38)	missense	possibly damaging	0.55
R8080:Helz2	UTSW	2	181,238,262 (GRCm38)	missense	probably damaging	0.99
R8237:Helz2	UTSW	2	181,229,331 (GRCm38)	missense	possibly damaging	0.65
R8245:Helz2	UTSW	2	181,238,102 (GRCm38)	missense	probably damaging	1.00
R8304:Helz2	UTSW	2	181,230,157 (GRCm38)	missense	probably benign	0.03
R8486:Helz2	UTSW	2	181,229,331 (GRCm38)	missense	probably damaging	1.00
R8556:Helz2	UTSW	2	181,229,557 (GRCm38)	missense	probably damaging	1.00
R8878:Helz2	UTSW	2	181,232,767 (GRCm38)	missense	possibly damaging	0.67
R8907:Helz2	UTSW	2	181,233,127 (GRCm38)	missense	possibly damaging	0.47
R8911:Helz2	UTSW	2	181,238,380 (GRCm38)	missense
R8953:Helz2	UTSW	2	181,233,091 (GRCm38)	missense	probably damaging	1.00
R8963:Helz2	UTSW	2	181,229,614 (GRCm38)	missense	probably damaging	1.00
R8969:Helz2	UTSW	2	181,237,788 (GRCm38)	missense	probably benign	0.19
R8976:Helz2	UTSW	2	181,234,693 (GRCm38)	missense	possibly damaging	0.46
R9015:Helz2	UTSW	2	181,228,999 (GRCm38)	missense	probably damaging	1.00
R9031:Helz2	UTSW	2	181,232,468 (GRCm38)	missense	possibly damaging	0.78
R9052:Helz2	UTSW	2	181,240,175 (GRCm38)	missense	possibly damaging	0.78
R9089:Helz2	UTSW	2	181,239,640 (GRCm38)	missense	probably damaging	1.00
R9145:Helz2	UTSW	2	181,240,055 (GRCm38)	missense	probably damaging	1.00
R9185:Helz2	UTSW	2	181,230,090 (GRCm38)	missense	probably benign
R9186:Helz2	UTSW	2	181,234,664 (GRCm38)	missense	possibly damaging	0.57
R9373:Helz2	UTSW	2	181,240,948 (GRCm38)	missense	probably benign
R9407:Helz2	UTSW	2	181,240,182 (GRCm38)	missense	probably benign	0.01
R9465:Helz2	UTSW	2	181,232,917 (GRCm38)	missense	probably benign	0.01
R9502:Helz2	UTSW	2	181,236,452 (GRCm38)	missense	possibly damaging	0.47
R9538:Helz2	UTSW	2	181,240,221 (GRCm38)	missense	probably damaging	1.00
R9554:Helz2	UTSW	2	181,240,677 (GRCm38)	missense	probably damaging	0.96
R9659:Helz2	UTSW	2	181,240,232 (GRCm38)	missense	probably benign	0.00
R9800:Helz2	UTSW	2	181,240,823 (GRCm38)	missense	probably damaging	0.99
X0064:Helz2	UTSW	2	181,231,741 (GRCm38)	missense	probably damaging	1.00
Z1176:Helz2	UTSW	2	181,237,564 (GRCm38)	missense	probably benign	0.39
Z1177:Helz2	UTSW	2	181,235,961 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGGGTAACTTGTACTTGGCC -3'
(R):5'- CCAGGATCCCTTGCTACATG -3'

Sequencing Primer
(F):5'- AACTTGTACTTGGCCATCAGG -3'
(R):5'- TGTGGCCCTACTCAATCAAGAG -3'

Posted On

2015-10-21