Mutagenetix > Incidental Mutation

Incidental Mutation 'R5178:Hephl1'

399479

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

zyklopen, thd, cw, Zp, LOC244698

MMRRC Submission

042758-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5178 (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 14997468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 399 (K399N)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

AlphaFold

Q3V1H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000159985
AA Change: K399N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: K399N

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

0.0809

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,606,819 (GRCm39)	A94E	possibly damaging	Het
Carmil2	G	T	8: 106,423,521 (GRCm39)	G1207V	probably damaging	Het
Cndp2	A	T	18: 84,693,153 (GRCm39)	N202K	probably benign	Het
Cyp2c66	A	G	19: 39,159,473 (GRCm39)	Y308C	probably damaging	Het
Dhx29	T	G	13: 113,069,134 (GRCm39)	S155A	possibly damaging	Het
Dnah7b	T	G	1: 46,397,376 (GRCm39)	F3936V	possibly damaging	Het
Dsg1b	G	A	18: 20,530,560 (GRCm39)	G405E	probably damaging	Het
Exo5	A	T	4: 120,778,734 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,710,331 (GRCm39)	F668L	probably damaging	Het
Gemin5	A	T	11: 58,037,344 (GRCm39)	S624T	probably benign	Het
Gpc2	C	A	5: 138,273,867 (GRCm39)	V444L	possibly damaging	Het
Lair1	G	A	7: 4,013,488 (GRCm39)	T82I	possibly damaging	Het
Lhx1	G	T	11: 84,411,214 (GRCm39)	A155E	possibly damaging	Het
Maip1	G	A	1: 57,454,849 (GRCm39)	D278N	probably benign	Het
Mcm4	T	A	16: 15,453,167 (GRCm39)	D174V	probably benign	Het
Mcph1	T	A	8: 18,657,342 (GRCm39)	D60E	probably damaging	Het
Mmp17	T	A	5: 129,672,122 (GRCm39)	W132R	probably damaging	Het
Or4p7	C	T	2: 88,221,819 (GRCm39)	T76I	possibly damaging	Het
Or7e174	T	A	9: 20,012,488 (GRCm39)	C144*	probably null	Het
Pds5a	T	C	5: 65,821,218 (GRCm39)	T169A	probably damaging	Het
Pfkm	A	G	15: 98,029,396 (GRCm39)	N697D	probably benign	Het
Pira1	T	A	7: 3,742,396 (GRCm39)	K44*	probably null	Het
Ppwd1	A	T	13: 104,356,943 (GRCm39)	S191T	probably benign	Het
Ranbp2	T	A	10: 58,312,607 (GRCm39)	M1109K	probably benign	Het
Robo4	T	C	9: 37,319,256 (GRCm39)	W535R	probably damaging	Het
Rsf1	A	G	7: 97,311,079 (GRCm39)	D603G	possibly damaging	Het
Slc22a26	T	C	19: 7,767,540 (GRCm39)	T289A	possibly damaging	Het
Sp2	A	G	11: 96,846,664 (GRCm39)	F554L	probably benign	Het
Sp4	A	G	12: 118,225,624 (GRCm39)	V580A	possibly damaging	Het
Tbc1d19	T	A	5: 54,046,667 (GRCm39)	S413T	possibly damaging	Het
Tecta	T	C	9: 42,286,481 (GRCm39)	D725G	probably damaging	Het
Tmem200a	T	A	10: 25,870,277 (GRCm39)	Q4H	probably benign	Het
Tpx2	T	A	2: 152,717,469 (GRCm39)	I122N	probably benign	Het
Trgc4	A	G	13: 19,528,932 (GRCm39)		probably benign	Het
Ube4b	T	C	4: 149,427,449 (GRCm39)	M900V	probably damaging	Het
Vmn1r87	G	T	7: 12,865,792 (GRCm39)	A165E	possibly damaging	Het
Vmn2r95	A	G	17: 18,660,337 (GRCm39)	T250A	probably benign	Het
Wasf1	G	A	10: 40,813,672 (GRCm39)	R518H	unknown	Het
Zfhx2	A	T	14: 55,312,232 (GRCm39)	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,785,764 (GRCm39)		probably null	Het
Zfp976	A	G	7: 42,261,925 (GRCm39)		probably null	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
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'- ACTCTCCCAGTTCTCAGCAG -3'
(R):5'- TGCTGATGCTTGTTTCAAACC -3'

Sequencing Primer
(F):5'- CAGTTCTCAGCAGTGTCCTCAATAAG -3'
(R):5'- GGCGGTTCATCCATGCCTTG -3'

Posted On

2016-07-06