Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Helz2'

596968

Institutional Source

Beutler Lab

Gene Symbol

Helz2

Ensembl Gene

ENSMUSG00000027580

Gene Name

helicase with zinc finger 2, transcriptional coactivator

Synonyms

BC006779

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180869408-180883820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 180876324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1390 (R1390H)

Ref Sequence

ENSEMBL: ENSMUSP00000091756 (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: R1390H

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

SMART Domains

Protein: ENSMUSP00000091756
Gene: ENSMUSG00000027580
AA Change: R1390H

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: R1390H

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

SMART Domains

Protein: ENSMUSP00000104459
Gene: ENSMUSG00000027580
AA Change: R1390H

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: R1390H

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

SMART Domains

Protein: ENSMUSP00000112917
Gene: ENSMUSG00000027580
AA Change: R1390H

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: 99.2%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 130,963,521 (GRCm39)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,223,765 (GRCm39)	L103P	unknown	Het
Actb	T	C	5: 142,890,450 (GRCm39)	I151V	probably benign	Het
Adcy6	T	A	15: 98,502,437 (GRCm39)	H59L	probably benign	Het
Adss2	G	C	1: 177,599,768 (GRCm39)	S272*	probably null	Het
Aga	A	T	8: 53,964,840 (GRCm39)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,468,971 (GRCm39)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,519,480 (GRCm39)	T3M	probably damaging	Het
Arhgap45	A	T	10: 79,852,766 (GRCm39)		probably benign	Het
Atp6v0a2	A	T	5: 124,793,560 (GRCm39)	H639L	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 55,121,836 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,013,484 (GRCm39)		probably null	Het
Bod1l	A	C	5: 41,989,683 (GRCm39)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,627,996 (GRCm39)	D46G	probably damaging	Het
Camk1	T	C	6: 113,317,289 (GRCm39)	E60G	probably damaging	Het
Capza1	A	T	3: 104,732,721 (GRCm39)		probably null	Het
Ccdc18	T	A	5: 108,296,907 (GRCm39)		probably null	Het
Cdh20	G	A	1: 104,869,024 (GRCm39)	A172T	probably damaging	Het
Cdk4	C	T	10: 126,900,298 (GRCm39)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,888 (GRCm39)		probably null	Het
Chd3	T	C	11: 69,246,459 (GRCm39)	M1092V	probably benign	Het
Chd6	A	T	2: 160,808,539 (GRCm39)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,116,966 (GRCm39)	H318R	probably benign	Het
Cps1	A	G	1: 67,178,965 (GRCm39)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 86,914,434 (GRCm39)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,471,726 (GRCm39)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,572,546 (GRCm39)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,217,024 (GRCm39)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,451,834 (GRCm39)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,068,050 (GRCm39)	S940P	probably benign	Het
Fam234b	T	A	6: 135,186,349 (GRCm39)	V119E	probably damaging	Het
Fbxo46	G	C	7: 18,870,458 (GRCm39)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,572,505 (GRCm39)		probably benign	Het
Fmn2	T	A	1: 174,494,215 (GRCm39)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm39)	T64K	probably damaging	Het
Fscb	A	T	12: 64,521,181 (GRCm39)	M95K	probably benign	Het
Fyb1	T	G	15: 6,668,307 (GRCm39)	V500G	probably damaging	Het
G2e3	A	G	12: 51,418,450 (GRCm39)	N615S	probably benign	Het
Gart	T	C	16: 91,427,540 (GRCm39)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,313,224 (GRCm39)	D696V	probably benign	Het
Glmn	C	T	5: 107,710,110 (GRCm39)		probably null	Het
Gm47985	A	T	1: 151,058,725 (GRCm39)	D122V	probably damaging	Het
Gm7168	A	G	17: 14,168,914 (GRCm39)	K94E	probably benign	Het
Gnai2	T	C	9: 107,492,934 (GRCm39)	H323R		Het
Igf2bp1	T	C	11: 95,858,413 (GRCm39)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,928,270 (GRCm39)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,154,911 (GRCm39)	R343S	probably damaging	Het
Itga8	T	A	2: 12,235,050 (GRCm39)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,428,973 (GRCm39)	M558L	probably benign	Het
Krt33a	C	T	11: 99,902,428 (GRCm39)	R404H	probably benign	Het
Krt34	T	A	11: 99,929,764 (GRCm39)	E244V	probably damaging	Het
Krt42	T	C	11: 100,157,792 (GRCm39)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 141,728,845 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,585 (GRCm39)	L553P		Het
Lcn9	T	A	2: 25,714,926 (GRCm39)	*179K	probably null	Het
Ldaf1	A	T	7: 119,714,702 (GRCm39)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,809,999 (GRCm39)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,916 (GRCm39)	V257A	probably damaging	Het
Masp2	T	C	4: 148,690,163 (GRCm39)	I224T	probably benign	Het
Mpz	A	T	1: 170,987,509 (GRCm39)		probably null	Het
Mtr	C	T	13: 12,242,725 (GRCm39)	A442T	probably benign	Het
Muc5b	A	G	7: 141,401,542 (GRCm39)	K596R	unknown	Het
Myo15a	T	G	11: 60,395,727 (GRCm39)	F1397C		Het
Ncor2	T	C	5: 125,187,031 (GRCm39)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,045,800 (GRCm39)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,545,627 (GRCm39)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,493,285 (GRCm39)	T115A	probably benign	Het
Or1e22	T	G	11: 73,376,994 (GRCm39)	I219L	probably benign	Het
Pds5a	T	A	5: 65,777,009 (GRCm39)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,872 (GRCm39)	R966L	possibly damaging	Het
Plk3	T	C	4: 116,988,925 (GRCm39)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,314,334 (GRCm39)		probably null	Het
Plxna1	T	A	6: 89,314,335 (GRCm39)		probably null	Het
Ppp4r4	G	A	12: 103,571,320 (GRCm39)		probably null	Het
Pramel6	T	A	2: 87,339,043 (GRCm39)	V81E	probably damaging	Het
Prdm2	T	C	4: 142,862,459 (GRCm39)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,970,491 (GRCm39)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,239,497 (GRCm39)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,190 (GRCm39)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,655,031 (GRCm39)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,017,741 (GRCm39)	I744V	probably null	Het
Rad54l2	A	G	9: 106,596,233 (GRCm39)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,415 (GRCm39)		probably null	Het
Rtcb	A	T	10: 85,777,832 (GRCm39)	D447E	probably benign	Het
Rtn1	C	T	12: 72,263,700 (GRCm39)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,436,140 (GRCm39)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,096,722 (GRCm39)	M1T	probably null	Het
Slc1a4	T	C	11: 20,282,252 (GRCm39)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,031,940 (GRCm39)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,289,426 (GRCm39)	I226V	probably benign	Het
Spata22	T	G	11: 73,227,080 (GRCm39)	I98S	probably null	Het
Spef2	C	T	15: 9,653,031 (GRCm39)	V917M	probably damaging	Het
Sspo	C	A	6: 48,426,399 (GRCm39)	C139*	probably null	Het
Tenm4	A	G	7: 96,543,909 (GRCm39)	D2012G	probably damaging	Het
Tgm5	G	A	2: 120,883,289 (GRCm39)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,006,753 (GRCm39)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm39)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,888,569 (GRCm39)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,985,250 (GRCm39)	D19E	unknown	Het
Usp17lc	A	G	7: 103,067,688 (GRCm39)	T328A	probably damaging	Het
Utrn	A	G	10: 12,490,252 (GRCm39)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,955,549 (GRCm39)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,570,343 (GRCm39)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,870,371 (GRCm39)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,236,720 (GRCm39)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp773	T	C	7: 7,135,907 (GRCm39)	R230G	probably benign	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
IGL00704:Helz2	APN	2	180,876,178 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGTCACAGAACCGTTGATAGG -3'
(R):5'- TTCTGGACACCGTGGTTTGC -3'

Sequencing Primer
(F):5'- ACCGTTGATAGGGATCATGATGC -3'
(R):5'- GACACCGTGGTTTGCTCTGC -3'

Posted On

2019-11-26