Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Hephl1'

368465

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

zyklopen, thd, cw, Zp, LOC244698

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14963137-15023404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14970467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1009 (E1009V)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159985]

AlphaFold

Q3V1H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159985
AA Change: E1009V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: E1009V

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
Pfam:Cu-oxidase_3	97	209	2.8e-12	PFAM
Pfam:Cu-oxidase_2	289	365	2.4e-9	PFAM
Pfam:Cu-oxidase_3	452	564	1.2e-9	PFAM
Blast:FA58C	604	703	9e-9	BLAST
Pfam:Cu-oxidase_3	805	908	1.6e-7	PFAM
Pfam:Cu-oxidase_2	946	1067	9e-14	PFAM
transmembrane domain	1115	1137	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	G	11: 110,202,236 (GRCm39)	T390P	possibly damaging	Het
Acss3	A	T	10: 106,859,563 (GRCm39)	Y345*	probably null	Het
Adam26b	A	T	8: 43,973,764 (GRCm39)	S413T	probably benign	Het
Angpt2	T	A	8: 18,764,098 (GRCm39)	Q148L	probably damaging	Het
Ank3	T	A	10: 69,823,981 (GRCm39)	Y883*	probably null	Het
Ankrd52	A	G	10: 128,216,814 (GRCm39)	K190E	possibly damaging	Het
Anks1b	A	G	10: 89,999,137 (GRCm39)	R415G	probably damaging	Het
Ano3	T	A	2: 110,715,264 (GRCm39)	Q58L	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Arhgap39	A	T	15: 76,610,931 (GRCm39)	M924K	possibly damaging	Het
AU040320	A	G	4: 126,741,008 (GRCm39)	M910V	possibly damaging	Het
BC051019	T	A	7: 109,315,553 (GRCm39)	H86L	probably benign	Het
C1qbp	G	A	11: 70,870,856 (GRCm39)	Q151*	probably null	Het
C4b	G	T	17: 34,953,117 (GRCm39)	D1069E	probably benign	Het
Casp1	C	T	9: 5,303,020 (GRCm39)	T158I	probably benign	Het
Casq1	T	C	1: 172,044,404 (GRCm39)	D141G	probably damaging	Het
Ccdc33	T	A	9: 57,937,240 (GRCm39)	E653V	probably damaging	Het
Cd180	C	T	13: 102,839,330 (GRCm39)	T71M	probably damaging	Het
Cdk4	T	C	10: 126,900,570 (GRCm39)	L112P	probably damaging	Het
Celf2	A	G	2: 6,554,714 (GRCm39)	F425S	probably damaging	Het
Chrm3	A	T	13: 9,927,698 (GRCm39)	V446E	probably benign	Het
Chst9	A	T	18: 15,586,107 (GRCm39)	L152H	probably damaging	Het
Cib2	A	G	9: 54,457,087 (GRCm39)		probably null	Het
Clec18a	T	C	8: 111,798,717 (GRCm39)	S366G	probably damaging	Het
Crebbp	A	G	16: 3,997,983 (GRCm39)	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,870,919 (GRCm39)		probably null	Het
Ddi1	T	A	9: 6,265,761 (GRCm39)	M203L	probably benign	Het
Ddx20	G	T	3: 105,590,485 (GRCm39)	S270R	probably benign	Het
Eddm13	A	T	7: 6,269,317 (GRCm39)	K31*	probably null	Het
Espnl	A	T	1: 91,272,146 (GRCm39)	E458V	probably damaging	Het
Fat3	T	C	9: 15,909,780 (GRCm39)	D2074G	probably damaging	Het
Fcf1	A	G	12: 85,020,902 (GRCm39)	T61A	probably benign	Het
Fkbp15	T	C	4: 62,226,234 (GRCm39)	R772G	probably benign	Het
Flnb	T	C	14: 7,905,661 (GRCm38)	V1137A	probably benign	Het
Fosb	C	A	7: 19,043,313 (GRCm39)	C15F	probably damaging	Het
Frem2	A	T	3: 53,424,162 (GRCm39)	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831 (GRCm38)	I28V	probably damaging	Het
Gm4922	G	T	10: 18,659,916 (GRCm39)	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,119,274 (GRCm39)	R627W	probably damaging	Het
Hsf4	A	T	8: 105,997,237 (GRCm39)	Q61L	probably damaging	Het
Itgam	T	A	7: 127,715,445 (GRCm39)	N1046K	probably benign	Het
Itgav	G	A	2: 83,586,154 (GRCm39)	C138Y	probably damaging	Het
Itih4	A	T	14: 30,611,867 (GRCm39)	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,282,254 (GRCm39)	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,708,618 (GRCm39)	V986M	probably damaging	Het
Lamb3	T	A	1: 193,022,194 (GRCm39)	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,367,717 (GRCm39)	N282K	probably damaging	Het
Map3k20	T	A	2: 72,272,048 (GRCm39)	H725Q	probably benign	Het
Mink1	A	G	11: 70,489,867 (GRCm39)	N81S	probably damaging	Het
Mmp21	A	G	7: 133,276,759 (GRCm39)	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,466,873 (GRCm39)	W1297R	probably damaging	Het
Myh8	T	C	11: 67,170,789 (GRCm39)	M95T	probably damaging	Het
Myo7b	A	T	18: 32,133,158 (GRCm39)		probably null	Het
Nanog	A	G	6: 122,684,874 (GRCm39)	M20V	probably benign	Het
Ncapd3	A	G	9: 26,963,146 (GRCm39)	I484V	probably benign	Het
Ndufa12	A	T	10: 94,056,620 (GRCm39)	N116I	probably benign	Het
Nedd4l	A	G	18: 65,337,016 (GRCm39)	I668V	possibly damaging	Het
Nhsl3	C	A	4: 129,117,095 (GRCm39)	R523L	probably damaging	Het
Nobox	T	C	6: 43,282,480 (GRCm39)	D309G	probably benign	Het
Npnt	A	G	3: 132,596,523 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,762,477 (GRCm39)	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,568,502 (GRCm39)	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or14j8	T	C	17: 38,263,633 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	C	G	7: 106,340,998 (GRCm39)	V48L	probably benign	Het
Or4s2b	T	A	2: 88,508,731 (GRCm39)	N177K	possibly damaging	Het
Or56a3	T	C	7: 104,735,844 (GRCm39)		probably benign	Het
Or5ac20	A	T	16: 59,104,821 (GRCm39)	V13D	probably damaging	Het
Or5an10	A	G	19: 12,276,305 (GRCm39)	Y64H	possibly damaging	Het
Or8k32	T	C	2: 86,369,224 (GRCm39)	T10A	possibly damaging	Het
Osm	A	T	11: 4,188,435 (GRCm39)	M21L	probably benign	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otud4	T	G	8: 80,393,402 (GRCm39)	S493A	possibly damaging	Het
Pars2	A	G	4: 106,508,308 (GRCm39)		probably benign	Het
Phlda3	T	A	1: 135,694,557 (GRCm39)	V124E	possibly damaging	Het
Pias4	T	C	10: 80,993,326 (GRCm39)	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,739,777 (GRCm39)	L375P	probably benign	Het
Pole2	T	C	12: 69,273,139 (GRCm39)	I48V	probably benign	Het
Prrc2c	T	C	1: 162,538,050 (GRCm39)	R527G	unknown	Het
Rasgrf2	G	T	13: 92,136,135 (GRCm39)	N592K	probably damaging	Het
Rbm7	A	G	9: 48,406,474 (GRCm39)	L26P	probably damaging	Het
Rhag	A	G	17: 41,142,181 (GRCm39)	H208R	probably benign	Het
Rnf17	A	G	14: 56,671,812 (GRCm39)	E268G	probably damaging	Het
Rnf220	A	G	4: 117,146,252 (GRCm39)	V23A	probably benign	Het
Rnf7	A	T	9: 96,360,472 (GRCm39)	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,739,448 (GRCm39)	R188S	possibly damaging	Het
Senp6	T	A	9: 79,997,140 (GRCm39)	N51K	probably benign	Het
Skint3	C	A	4: 112,113,095 (GRCm39)	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,400,096 (GRCm39)	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,758,690 (GRCm39)	G111R	probably damaging	Het
Smarca1	T	C	X: 46,972,944 (GRCm39)	D132G	probably null	Het
Snrnp48	C	T	13: 38,405,299 (GRCm39)	R299W	probably damaging	Het
Sspo	G	A	6: 48,437,705 (GRCm39)	G1413D	probably benign	Het
Star	T	A	8: 26,298,644 (GRCm39)	H16Q	probably damaging	Het
Strc	T	C	2: 121,206,075 (GRCm39)	D779G	probably benign	Het
Sulf2	T	C	2: 165,931,215 (GRCm39)	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,680,248 (GRCm39)	S6P	possibly damaging	Het
Syne2	A	G	12: 76,067,165 (GRCm39)	D4289G	probably benign	Het
Szrd1	A	T	4: 140,867,001 (GRCm39)		probably null	Het
Tada1	T	C	1: 166,219,523 (GRCm39)	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,641,932 (GRCm39)	Y136F	probably benign	Het
Tbx20	T	A	9: 24,637,010 (GRCm39)	H359L	probably benign	Het
Thbs4	G	T	13: 92,899,314 (GRCm39)	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,497,740 (GRCm39)	H164R	probably damaging	Het
Trmu	T	C	15: 85,767,006 (GRCm39)	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 106,560,155 (GRCm39)	Q36K	probably benign	Het
Ttc28	T	A	5: 111,372,083 (GRCm39)	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,579,201 (GRCm39)	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 87,984,009 (GRCm39)	M269K	probably damaging	Het
Urb1	A	T	16: 90,566,443 (GRCm39)	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,269,855 (GRCm39)	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,370,949 (GRCm39)	N699S	probably damaging	Het
Vps35	A	T	8: 86,005,486 (GRCm39)		probably null	Het
Yipf1	G	T	4: 107,193,396 (GRCm39)		probably null	Het
Zfp395	A	G	14: 65,623,990 (GRCm39)	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,630,656 (GRCm39)	D402G	probably damaging	Het
Zfp652	T	C	11: 95,640,435 (GRCm39)	V120A	probably damaging	Het
Zp3r	T	C	1: 130,510,629 (GRCm39)	I364M	probably damaging	Het

Other mutations in Hephl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Hephl1	APN	9	14,978,341 (GRCm39)	missense	probably benign	0.06
IGL01105:Hephl1	APN	9	15,000,320 (GRCm39)	missense	possibly damaging	0.95
IGL01731:Hephl1	APN	9	14,981,066 (GRCm39)	missense	probably damaging	1.00
IGL02010:Hephl1	APN	9	15,001,852 (GRCm39)	nonsense	probably null
IGL02112:Hephl1	APN	9	14,993,111 (GRCm39)	splice site	probably benign
IGL02227:Hephl1	APN	9	14,981,089 (GRCm39)	missense	probably damaging	1.00
IGL02490:Hephl1	APN	9	14,964,981 (GRCm39)	missense	probably benign	0.06
IGL02960:Hephl1	APN	9	14,995,615 (GRCm39)	missense	probably damaging	1.00
IGL03265:Hephl1	APN	9	14,972,255 (GRCm39)	missense	probably benign	0.14
R0006:Hephl1	UTSW	9	14,988,060 (GRCm39)	missense	probably benign	0.16
R0006:Hephl1	UTSW	9	14,988,060 (GRCm39)	missense	probably benign	0.16
R0007:Hephl1	UTSW	9	14,997,471 (GRCm39)	missense	possibly damaging	0.58
R0092:Hephl1	UTSW	9	15,001,899 (GRCm39)	frame shift	probably null
R0421:Hephl1	UTSW	9	14,970,456 (GRCm39)	missense	probably benign	0.05
R0448:Hephl1	UTSW	9	14,988,222 (GRCm39)	missense	probably damaging	1.00
R0563:Hephl1	UTSW	9	14,993,241 (GRCm39)	missense	probably damaging	1.00
R0602:Hephl1	UTSW	9	15,000,347 (GRCm39)	missense	probably damaging	0.99
R0631:Hephl1	UTSW	9	14,995,820 (GRCm39)	missense	probably benign	0.04
R0747:Hephl1	UTSW	9	14,965,297 (GRCm39)	splice site	probably benign
R1123:Hephl1	UTSW	9	14,991,436 (GRCm39)	missense	probably benign	0.00
R1386:Hephl1	UTSW	9	14,988,050 (GRCm39)	missense	probably benign
R1711:Hephl1	UTSW	9	14,970,542 (GRCm39)	missense	probably damaging	1.00
R1743:Hephl1	UTSW	9	15,001,364 (GRCm39)	missense	probably damaging	0.99
R1833:Hephl1	UTSW	9	14,988,224 (GRCm39)	missense	probably damaging	0.99
R1908:Hephl1	UTSW	9	14,985,420 (GRCm39)	nonsense	probably null
R1918:Hephl1	UTSW	9	14,988,114 (GRCm39)	missense	probably benign	0.16
R1938:Hephl1	UTSW	9	14,965,283 (GRCm39)	missense	possibly damaging	0.88
R1986:Hephl1	UTSW	9	14,965,848 (GRCm39)	missense	probably damaging	1.00
R3122:Hephl1	UTSW	9	15,000,265 (GRCm39)	missense	possibly damaging	0.90
R3832:Hephl1	UTSW	9	14,981,044 (GRCm39)	missense	probably damaging	1.00
R3833:Hephl1	UTSW	9	14,981,044 (GRCm39)	missense	probably damaging	1.00
R4280:Hephl1	UTSW	9	15,023,330 (GRCm39)	missense	probably benign	0.05
R4434:Hephl1	UTSW	9	14,988,092 (GRCm39)	missense	probably damaging	0.99
R4793:Hephl1	UTSW	9	15,009,286 (GRCm39)	missense	probably benign	0.34
R4960:Hephl1	UTSW	9	14,997,586 (GRCm39)	missense	probably damaging	1.00
R5125:Hephl1	UTSW	9	14,997,468 (GRCm39)	missense	probably damaging	0.98
R5152:Hephl1	UTSW	9	14,991,481 (GRCm39)	missense	probably damaging	1.00
R5178:Hephl1	UTSW	9	14,997,468 (GRCm39)	missense	probably damaging	0.98
R5288:Hephl1	UTSW	9	14,988,150 (GRCm39)	missense	possibly damaging	0.83
R5372:Hephl1	UTSW	9	15,009,195 (GRCm39)	nonsense	probably null
R5377:Hephl1	UTSW	9	14,981,084 (GRCm39)	missense	probably damaging	1.00
R5788:Hephl1	UTSW	9	14,995,579 (GRCm39)	missense	possibly damaging	0.93
R5795:Hephl1	UTSW	9	14,981,056 (GRCm39)	missense	probably damaging	0.99
R6210:Hephl1	UTSW	9	15,001,860 (GRCm39)	missense	possibly damaging	0.57
R6303:Hephl1	UTSW	9	15,001,448 (GRCm39)	missense	possibly damaging	0.69
R6394:Hephl1	UTSW	9	14,985,397 (GRCm39)	missense	probably benign	0.00
R6653:Hephl1	UTSW	9	14,993,260 (GRCm39)	missense	probably damaging	0.99
R6764:Hephl1	UTSW	9	15,000,217 (GRCm39)	missense	possibly damaging	0.88
R7114:Hephl1	UTSW	9	14,981,111 (GRCm39)	missense	probably damaging	0.96
R7143:Hephl1	UTSW	9	14,972,106 (GRCm39)	missense	possibly damaging	0.80
R7404:Hephl1	UTSW	9	14,981,047 (GRCm39)	missense	possibly damaging	0.84
R7446:Hephl1	UTSW	9	15,009,347 (GRCm39)	missense	probably damaging	1.00
R7447:Hephl1	UTSW	9	15,009,178 (GRCm39)	critical splice donor site	probably null
R7715:Hephl1	UTSW	9	14,972,081 (GRCm39)	missense	probably benign	0.36
R8013:Hephl1	UTSW	9	14,965,905 (GRCm39)	missense	possibly damaging	0.78
R8156:Hephl1	UTSW	9	14,972,210 (GRCm39)	missense	possibly damaging	0.77
R8755:Hephl1	UTSW	9	15,023,280 (GRCm39)	missense	probably damaging	1.00
R8755:Hephl1	UTSW	9	14,985,563 (GRCm39)	missense	probably benign
R8777:Hephl1	UTSW	9	14,972,090 (GRCm39)	missense	probably benign	0.24
R8777-TAIL:Hephl1	UTSW	9	14,972,090 (GRCm39)	missense	probably benign	0.24
R9090:Hephl1	UTSW	9	14,988,236 (GRCm39)	missense	probably damaging	1.00
R9155:Hephl1	UTSW	9	15,000,375 (GRCm39)	missense	probably damaging	1.00
R9271:Hephl1	UTSW	9	14,988,236 (GRCm39)	missense	probably damaging	1.00
R9287:Hephl1	UTSW	9	14,995,775 (GRCm39)	missense	probably benign	0.01
R9487:Hephl1	UTSW	9	14,995,830 (GRCm39)	missense	possibly damaging	0.84
X0026:Hephl1	UTSW	9	14,995,524 (GRCm39)	critical splice donor site	probably null
X0066:Hephl1	UTSW	9	14,964,964 (GRCm39)	missense	probably benign	0.00
Z1088:Hephl1	UTSW	9	14,965,017 (GRCm39)	missense	probably damaging	1.00
Z1177:Hephl1	UTSW	9	15,001,350 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAAAGTCTCATCTGAAACTC -3'
(R):5'- TAAGCAGTACCTGTCCTCTGC -3'

Sequencing Primer
(F):5'- CTGGTGGGCTACAAGAAATGATAC -3'
(R):5'- CCGACTGAGGGTCTTCATCTG -3'

Posted On

2016-02-04