Mutagenetix > Incidental Mutation

Incidental Mutation 'R6303:Hephl1'

509155

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

zyklopen, thd, cw, Zp, LOC244698

MMRRC Submission

044410-MU

Accession Numbers

Essential gene?

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

Stock #

R6303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14963137-15023404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15001448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 226 (V226F)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

AlphaFold

Q3V1H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159985
AA Change: V226F

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: V226F

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

Meta Mutation Damage Score

0.0796

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Bin3	A	G	14: 70,374,625 (GRCm39)	D218G	possibly damaging	Het
Cobll1	A	T	2: 64,928,377 (GRCm39)	M982K	possibly damaging	Het
Crybg2	T	C	4: 133,814,898 (GRCm39)	V1593A	possibly damaging	Het
Ctsh	A	G	9: 89,944,796 (GRCm39)	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,181,008 (GRCm39)	D767E	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Fndc1	T	C	17: 7,977,317 (GRCm39)	E1394G	probably damaging	Het
Gm19410	T	C	8: 36,274,714 (GRCm39)	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Ilf3	G	A	9: 21,314,432 (GRCm39)		probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Nlrp2	A	G	7: 5,340,760 (GRCm39)	L18P	probably damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Pappa	G	A	4: 65,122,891 (GRCm39)	G742D	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plscr5	A	T	9: 92,087,609 (GRCm39)	I193F	probably benign	Het
Polr1b	G	A	2: 128,957,682 (GRCm39)	R579H	probably damaging	Het
Polr2a	A	T	11: 69,637,739 (GRCm39)	W202R	probably damaging	Het
Ppp4r1	A	G	17: 66,131,724 (GRCm39)	K489E	probably benign	Het
Qser1	G	A	2: 104,593,175 (GRCm39)	T1704I	probably damaging	Het
Sik1	A	G	17: 32,065,270 (GRCm39)	V776A	probably damaging	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spice1	A	G	16: 44,191,060 (GRCm39)	M305V	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Usp49	C	A	17: 47,991,747 (GRCm39)	Q670K	probably damaging	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,028 (GRCm39)	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Zfp985	A	G	4: 147,668,232 (GRCm39)	I367V	probably benign	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
R4790:Hephl1	UTSW	9	14,970,467 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGTGTCTTGCTTCCCTGAAG -3'
(R):5'- TGTCATTTGCACCAGAGCTG -3'

Sequencing Primer
(F):5'- GTACTCATCATGCAGAATGCCTG -3'
(R):5'- AGAGCTGGCTTCTGACTGC -3'

Posted On

2018-04-02