Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Hephl1'

415049

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

LOC244698, zyklopen, Zp

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

15051841-15112108 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 15060959 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 895 (T895I)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159985
AA Change: T895I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: T895I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hey1	T	C	3: 8,664,914	Y161C	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	Het

Other mutations in Hephl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Hephl1	APN	9	15067045	missense	probably benign	0.06
IGL01105:Hephl1	APN	9	15089024	missense	possibly damaging	0.95
IGL01731:Hephl1	APN	9	15069770	missense	probably damaging	1.00
IGL02010:Hephl1	APN	9	15090556	nonsense	probably null
IGL02112:Hephl1	APN	9	15081815	splice site	probably benign
IGL02227:Hephl1	APN	9	15069793	missense	probably damaging	1.00
IGL02490:Hephl1	APN	9	15053685	missense	probably benign	0.06
IGL02960:Hephl1	APN	9	15084319	missense	probably damaging	1.00
R0006:Hephl1	UTSW	9	15076764	missense	probably benign	0.16
R0006:Hephl1	UTSW	9	15076764	missense	probably benign	0.16
R0007:Hephl1	UTSW	9	15086175	missense	possibly damaging	0.58
R0092:Hephl1	UTSW	9	15090603	frame shift	probably null
R0421:Hephl1	UTSW	9	15059160	missense	probably benign	0.05
R0448:Hephl1	UTSW	9	15076926	missense	probably damaging	1.00
R0563:Hephl1	UTSW	9	15081945	missense	probably damaging	1.00
R0602:Hephl1	UTSW	9	15089051	missense	probably damaging	0.99
R0631:Hephl1	UTSW	9	15084524	missense	probably benign	0.04
R0747:Hephl1	UTSW	9	15054001	splice site	probably benign
R1123:Hephl1	UTSW	9	15080140	missense	probably benign	0.00
R1386:Hephl1	UTSW	9	15076754	missense	probably benign
R1711:Hephl1	UTSW	9	15059246	missense	probably damaging	1.00
R1743:Hephl1	UTSW	9	15090068	missense	probably damaging	0.99
R1833:Hephl1	UTSW	9	15076928	missense	probably damaging	0.99
R1908:Hephl1	UTSW	9	15074124	nonsense	probably null
R1918:Hephl1	UTSW	9	15076818	missense	probably benign	0.16
R1938:Hephl1	UTSW	9	15053987	missense	possibly damaging	0.88
R1986:Hephl1	UTSW	9	15054552	missense	probably damaging	1.00
R3122:Hephl1	UTSW	9	15088969	missense	possibly damaging	0.90
R3832:Hephl1	UTSW	9	15069748	missense	probably damaging	1.00
R3833:Hephl1	UTSW	9	15069748	missense	probably damaging	1.00
R4280:Hephl1	UTSW	9	15112034	missense	probably benign	0.05
R4434:Hephl1	UTSW	9	15076796	missense	probably damaging	0.99
R4790:Hephl1	UTSW	9	15059171	missense	probably damaging	1.00
R4793:Hephl1	UTSW	9	15097990	missense	probably benign	0.34
R4960:Hephl1	UTSW	9	15086290	missense	probably damaging	1.00
R5125:Hephl1	UTSW	9	15086172	missense	probably damaging	0.98
R5152:Hephl1	UTSW	9	15080185	missense	probably damaging	1.00
R5178:Hephl1	UTSW	9	15086172	missense	probably damaging	0.98
R5288:Hephl1	UTSW	9	15076854	missense	possibly damaging	0.83
R5372:Hephl1	UTSW	9	15097899	nonsense	probably null
R5377:Hephl1	UTSW	9	15069788	missense	probably damaging	1.00
R5788:Hephl1	UTSW	9	15084283	missense	possibly damaging	0.93
R5795:Hephl1	UTSW	9	15069760	missense	probably damaging	0.99
R6210:Hephl1	UTSW	9	15090564	missense	possibly damaging	0.57
R6303:Hephl1	UTSW	9	15090152	missense	possibly damaging	0.69
R6394:Hephl1	UTSW	9	15074101	missense	probably benign	0.00
R6653:Hephl1	UTSW	9	15081964	missense	probably damaging	0.99
R6764:Hephl1	UTSW	9	15088921	missense	possibly damaging	0.88
R7114:Hephl1	UTSW	9	15069815	missense	probably damaging	0.96
R7143:Hephl1	UTSW	9	15060810	missense	possibly damaging	0.80
R7404:Hephl1	UTSW	9	15069751	missense	possibly damaging	0.84
R7446:Hephl1	UTSW	9	15098051	missense	probably damaging	1.00
R7447:Hephl1	UTSW	9	15097882	critical splice donor site	probably null
R7715:Hephl1	UTSW	9	15060785	missense	probably benign	0.36
R8013:Hephl1	UTSW	9	15054609	missense	possibly damaging	0.78
R8156:Hephl1	UTSW	9	15060914	missense	possibly damaging	0.77
X0026:Hephl1	UTSW	9	15084228	critical splice donor site	probably null
X0066:Hephl1	UTSW	9	15053668	missense	probably benign	0.00
Z1088:Hephl1	UTSW	9	15053721	missense	probably damaging	1.00
Z1177:Hephl1	UTSW	9	15090054	missense	probably damaging	1.00

Posted On

2016-08-02