Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Hephl1'

210066

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

LOC244698, zyklopen, Zp

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

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

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15051841-15112108 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 15074124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 745 (Y745*)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

AlphaFold

Q3V1H3

Predicted Effect

probably null
Transcript: ENSMUST00000159985
AA Change: Y745*

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: Y745*

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,226,575 (GRCm38)	D292E	probably damaging	Het
4931406P16Rik	T	A	7: 34,258,036 (GRCm38)	I59L	probably benign	Het
Abca8b	C	A	11: 109,957,098 (GRCm38)	L852F	possibly damaging	Het
Abcc6	T	C	7: 46,020,134 (GRCm38)		probably null	Het
Alg11	T	G	8: 22,065,568 (GRCm38)	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624 (GRCm38)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844 (GRCm38)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763 (GRCm38)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259 (GRCm38)	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148 (GRCm38)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090 (GRCm38)		probably null	Het
Btnl10	C	A	11: 58,920,541 (GRCm38)	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489 (GRCm38)	Y1348H	probably damaging	Het
Cebpz	A	T	17: 78,934,907 (GRCm38)	Y439*	probably null	Het
Cic	C	A	7: 25,286,840 (GRCm38)	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749 (GRCm38)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699 (GRCm38)	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494 (GRCm38)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369 (GRCm38)	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558 (GRCm38)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562 (GRCm38)	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629 (GRCm38)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455 (GRCm38)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817 (GRCm38)	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032 (GRCm38)	D555E	probably benign	Het
Fes	T	C	7: 80,386,861 (GRCm38)	R113G	probably damaging	Het
Gm10684	A	G	9: 45,110,213 (GRCm38)		probably benign	Het
Gm12185	T	C	11: 48,915,404 (GRCm38)	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476 (GRCm38)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837 (GRCm38)	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556 (GRCm38)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684 (GRCm38)	Y216*	probably null	Het
Hmcn2	T	G	2: 31,411,910 (GRCm38)		probably null	Het
Hs3st6	A	G	17: 24,758,136 (GRCm38)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511 (GRCm38)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144 (GRCm38)	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408 (GRCm38)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841 (GRCm38)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834 (GRCm38)	I58F	probably benign	Het
Mga	T	A	2: 119,926,594 (GRCm38)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222 (GRCm38)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023 (GRCm38)	D320Y	probably damaging	Het
Olfr1220	G	A	2: 89,097,544 (GRCm38)	P128S	probably damaging	Het
Olfr1395	A	C	11: 49,148,274 (GRCm38)	N6H	possibly damaging	Het
Olfr458	C	T	6: 42,460,426 (GRCm38)	V198M	probably benign	Het
Olfr60	T	C	7: 140,345,465 (GRCm38)	I175V	probably benign	Het
Olfr74	A	T	2: 87,974,059 (GRCm38)	V202D	possibly damaging	Het
Olfr740	T	A	14: 50,453,838 (GRCm38)	M262K	probably damaging	Het
Pabpc4	G	T	4: 123,289,068 (GRCm38)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962 (GRCm38)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191 (GRCm38)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567 (GRCm38)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685 (GRCm38)	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148 (GRCm38)	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720 (GRCm38)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277 (GRCm38)	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990 (GRCm38)	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904 (GRCm38)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308 (GRCm38)	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497 (GRCm38)	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447 (GRCm38)		probably null	Het
Slit2	A	G	5: 48,281,988 (GRCm38)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm38)	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199 (GRCm38)		probably benign	Het
Ssu2	A	T	6: 112,384,427 (GRCm38)	L23M	probably benign	Het
St5	G	A	7: 109,525,326 (GRCm38)	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279 (GRCm38)		probably null	Het
Tekt1	T	C	11: 72,351,935 (GRCm38)	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692 (GRCm38)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109 (GRCm38)	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107 (GRCm38)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207 (GRCm38)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559 (GRCm38)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545 (GRCm38)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041 (GRCm38)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052 (GRCm38)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442 (GRCm38)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570 (GRCm38)	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230 (GRCm38)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220 (GRCm38)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898 (GRCm38)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548 (GRCm38)	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155 (GRCm38)	P191L	probably damaging	Het

Other mutations in Hephl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Hephl1	APN	9	15,067,045 (GRCm38)	missense	probably benign	0.06
IGL01105:Hephl1	APN	9	15,089,024 (GRCm38)	missense	possibly damaging	0.95
IGL01731:Hephl1	APN	9	15,069,770 (GRCm38)	missense	probably damaging	1.00
IGL02010:Hephl1	APN	9	15,090,556 (GRCm38)	nonsense	probably null
IGL02112:Hephl1	APN	9	15,081,815 (GRCm38)	splice site	probably benign
IGL02227:Hephl1	APN	9	15,069,793 (GRCm38)	missense	probably damaging	1.00
IGL02490:Hephl1	APN	9	15,053,685 (GRCm38)	missense	probably benign	0.06
IGL02960:Hephl1	APN	9	15,084,319 (GRCm38)	missense	probably damaging	1.00
IGL03265:Hephl1	APN	9	15,060,959 (GRCm38)	missense	probably benign	0.14
R0006:Hephl1	UTSW	9	15,076,764 (GRCm38)	missense	probably benign	0.16
R0006:Hephl1	UTSW	9	15,076,764 (GRCm38)	missense	probably benign	0.16
R0007:Hephl1	UTSW	9	15,086,175 (GRCm38)	missense	possibly damaging	0.58
R0092:Hephl1	UTSW	9	15,090,603 (GRCm38)	frame shift	probably null
R0421:Hephl1	UTSW	9	15,059,160 (GRCm38)	missense	probably benign	0.05
R0448:Hephl1	UTSW	9	15,076,926 (GRCm38)	missense	probably damaging	1.00
R0563:Hephl1	UTSW	9	15,081,945 (GRCm38)	missense	probably damaging	1.00
R0602:Hephl1	UTSW	9	15,089,051 (GRCm38)	missense	probably damaging	0.99
R0631:Hephl1	UTSW	9	15,084,524 (GRCm38)	missense	probably benign	0.04
R0747:Hephl1	UTSW	9	15,054,001 (GRCm38)	splice site	probably benign
R1123:Hephl1	UTSW	9	15,080,140 (GRCm38)	missense	probably benign	0.00
R1386:Hephl1	UTSW	9	15,076,754 (GRCm38)	missense	probably benign
R1711:Hephl1	UTSW	9	15,059,246 (GRCm38)	missense	probably damaging	1.00
R1743:Hephl1	UTSW	9	15,090,068 (GRCm38)	missense	probably damaging	0.99
R1833:Hephl1	UTSW	9	15,076,928 (GRCm38)	missense	probably damaging	0.99
R1918:Hephl1	UTSW	9	15,076,818 (GRCm38)	missense	probably benign	0.16
R1938:Hephl1	UTSW	9	15,053,987 (GRCm38)	missense	possibly damaging	0.88
R1986:Hephl1	UTSW	9	15,054,552 (GRCm38)	missense	probably damaging	1.00
R3122:Hephl1	UTSW	9	15,088,969 (GRCm38)	missense	possibly damaging	0.90
R3832:Hephl1	UTSW	9	15,069,748 (GRCm38)	missense	probably damaging	1.00
R3833:Hephl1	UTSW	9	15,069,748 (GRCm38)	missense	probably damaging	1.00
R4280:Hephl1	UTSW	9	15,112,034 (GRCm38)	missense	probably benign	0.05
R4434:Hephl1	UTSW	9	15,076,796 (GRCm38)	missense	probably damaging	0.99
R4790:Hephl1	UTSW	9	15,059,171 (GRCm38)	missense	probably damaging	1.00
R4793:Hephl1	UTSW	9	15,097,990 (GRCm38)	missense	probably benign	0.34
R4960:Hephl1	UTSW	9	15,086,290 (GRCm38)	missense	probably damaging	1.00
R5125:Hephl1	UTSW	9	15,086,172 (GRCm38)	missense	probably damaging	0.98
R5152:Hephl1	UTSW	9	15,080,185 (GRCm38)	missense	probably damaging	1.00
R5178:Hephl1	UTSW	9	15,086,172 (GRCm38)	missense	probably damaging	0.98
R5288:Hephl1	UTSW	9	15,076,854 (GRCm38)	missense	possibly damaging	0.83
R5372:Hephl1	UTSW	9	15,097,899 (GRCm38)	nonsense	probably null
R5377:Hephl1	UTSW	9	15,069,788 (GRCm38)	missense	probably damaging	1.00
R5788:Hephl1	UTSW	9	15,084,283 (GRCm38)	missense	possibly damaging	0.93
R5795:Hephl1	UTSW	9	15,069,760 (GRCm38)	missense	probably damaging	0.99
R6210:Hephl1	UTSW	9	15,090,564 (GRCm38)	missense	possibly damaging	0.57
R6303:Hephl1	UTSW	9	15,090,152 (GRCm38)	missense	possibly damaging	0.69
R6394:Hephl1	UTSW	9	15,074,101 (GRCm38)	missense	probably benign	0.00
R6653:Hephl1	UTSW	9	15,081,964 (GRCm38)	missense	probably damaging	0.99
R6764:Hephl1	UTSW	9	15,088,921 (GRCm38)	missense	possibly damaging	0.88
R7114:Hephl1	UTSW	9	15,069,815 (GRCm38)	missense	probably damaging	0.96
R7143:Hephl1	UTSW	9	15,060,810 (GRCm38)	missense	possibly damaging	0.80
R7404:Hephl1	UTSW	9	15,069,751 (GRCm38)	missense	possibly damaging	0.84
R7446:Hephl1	UTSW	9	15,098,051 (GRCm38)	missense	probably damaging	1.00
R7447:Hephl1	UTSW	9	15,097,882 (GRCm38)	critical splice donor site	probably null
R7715:Hephl1	UTSW	9	15,060,785 (GRCm38)	missense	probably benign	0.36
R8013:Hephl1	UTSW	9	15,054,609 (GRCm38)	missense	possibly damaging	0.78
R8156:Hephl1	UTSW	9	15,060,914 (GRCm38)	missense	possibly damaging	0.77
R8755:Hephl1	UTSW	9	15,111,984 (GRCm38)	missense	probably damaging	1.00
R8755:Hephl1	UTSW	9	15,074,267 (GRCm38)	missense	probably benign
R8777:Hephl1	UTSW	9	15,060,794 (GRCm38)	missense	probably benign	0.24
R8777-TAIL:Hephl1	UTSW	9	15,060,794 (GRCm38)	missense	probably benign	0.24
R9090:Hephl1	UTSW	9	15,076,940 (GRCm38)	missense	probably damaging	1.00
R9155:Hephl1	UTSW	9	15,089,079 (GRCm38)	missense	probably damaging	1.00
R9271:Hephl1	UTSW	9	15,076,940 (GRCm38)	missense	probably damaging	1.00
R9287:Hephl1	UTSW	9	15,084,479 (GRCm38)	missense	probably benign	0.01
R9487:Hephl1	UTSW	9	15,084,534 (GRCm38)	missense	possibly damaging	0.84
X0026:Hephl1	UTSW	9	15,084,228 (GRCm38)	critical splice donor site	probably null
X0066:Hephl1	UTSW	9	15,053,668 (GRCm38)	missense	probably benign	0.00
Z1088:Hephl1	UTSW	9	15,053,721 (GRCm38)	missense	probably damaging	1.00
Z1177:Hephl1	UTSW	9	15,090,054 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAGACAGAAGCGTCTC -3'
(R):5'- GAAATCTCAAGTCATGGTCACC -3'

Sequencing Primer
(F):5'- TGCGCTCATAAGGAAGTCTC -3'
(R):5'- AAATCTCAAGTCATGGTCACCTTTTC -3'

Posted On

2014-06-30