Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Hephl1'

160598

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

zyklopen, thd, cw, Zp, LOC244698

MMRRC Submission

039448-MU

Accession Numbers

Essential gene?

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

Stock #

R1386 (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 14988050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 686 (Y686F)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

AlphaFold

Q3V1H3

Predicted Effect

probably benign
Transcript: ENSMUST00000159985
AA Change: Y686F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: Y686F

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: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,135,081 (GRCm39)	I235V	probably benign	Het
Acsm4	T	C	7: 119,297,801 (GRCm39)	I146T	probably benign	Het
Adgrv1	T	C	13: 81,676,984 (GRCm39)	N1949S	probably benign	Het
Afdn	T	C	17: 14,066,798 (GRCm39)	V630A	probably damaging	Het
Amfr	A	G	8: 94,712,027 (GRCm39)	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,832,279 (GRCm39)	M45V	probably benign	Het
Ankrd12	T	C	17: 66,290,375 (GRCm39)	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,359,979 (GRCm39)	H193Q	probably damaging	Het
Aplnr	T	C	2: 84,967,805 (GRCm39)	W277R	possibly damaging	Het
Aspm	C	T	1: 139,406,710 (GRCm39)	H1866Y	possibly damaging	Het
Aspm	A	G	1: 139,385,361 (GRCm39)	E335G	probably benign	Het
Atp8b4	T	A	2: 126,220,664 (GRCm39)	D578V	probably benign	Het
Ccr1	T	A	9: 123,763,999 (GRCm39)	E177V	probably benign	Het
Cecr2	A	G	6: 120,739,092 (GRCm39)	E1245G	probably damaging	Het
Cep162	A	T	9: 87,103,255 (GRCm39)	C638S	probably benign	Het
Ces1b	A	T	8: 93,794,705 (GRCm39)	I298N	probably benign	Het
Cfap47	C	T	X: 78,553,507 (GRCm39)	V323I	possibly damaging	Het
Chdh	T	A	14: 29,753,391 (GRCm39)	L100Q	probably damaging	Het
Chrnd	T	C	1: 87,120,312 (GRCm39)	I156T	probably damaging	Het
Clpx	G	A	9: 65,234,170 (GRCm39)	R605Q	probably null	Het
Cnga1	T	A	5: 72,769,526 (GRCm39)	K135*	probably null	Het
Col6a4	A	T	9: 105,940,144 (GRCm39)	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,043,481 (GRCm39)	L53P	probably damaging	Het
Crhr1	T	C	11: 104,065,220 (GRCm39)	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,723,624 (GRCm39)		probably null	Het
Cyp21a1	T	A	17: 35,021,184 (GRCm39)	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ddah1	A	T	3: 145,594,966 (GRCm39)	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,088,719 (GRCm39)	D105G	possibly damaging	Het
Dtl	A	G	1: 191,301,829 (GRCm39)	V76A	probably damaging	Het
Dzank1	A	G	2: 144,333,751 (GRCm39)	S361P	probably benign	Het
Ehd3	T	A	17: 74,127,538 (GRCm39)	I157N	probably damaging	Het
Elk4	T	C	1: 131,945,568 (GRCm39)	F149L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fam83a	A	G	15: 57,849,899 (GRCm39)	R148G	probably damaging	Het
Farp2	C	A	1: 93,547,873 (GRCm39)		probably null	Het
Fbxw25	T	A	9: 109,483,709 (GRCm39)	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,757,978 (GRCm39)	D479G	probably damaging	Het
Fgf17	C	A	14: 70,874,210 (GRCm39)	R193L	probably damaging	Het
Foxred2	T	G	15: 77,832,721 (GRCm39)		probably null	Het
Gad1	T	C	2: 70,404,467 (GRCm39)	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,250,215 (GRCm39)	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,633,587 (GRCm39)	V469I	probably benign	Het
Gja1	A	T	10: 56,264,065 (GRCm39)	E141D	probably benign	Het
Glod4	C	T	11: 76,112,829 (GRCm39)	W268*	probably null	Het
Guf1	C	T	5: 69,720,505 (GRCm39)	H309Y	probably benign	Het
Hax1	A	G	3: 89,903,156 (GRCm39)	V215A	probably damaging	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hk3	T	C	13: 55,154,843 (GRCm39)		probably null	Het
Ikbkb	G	T	8: 23,155,633 (GRCm39)	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,570,682 (GRCm39)	A208V	probably benign	Het
Kif26b	T	C	1: 178,743,209 (GRCm39)	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383 (GRCm39)	D147E	probably damaging	Het
Klhl3	T	C	13: 58,178,247 (GRCm39)	T348A	probably damaging	Het
Krt10	T	C	11: 99,276,746 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,610,427 (GRCm39)	H1124L	probably benign	Het
Lin7a	A	T	10: 107,247,983 (GRCm39)	Q96L	unknown	Het
Ly6c2	T	G	15: 74,982,438 (GRCm39)	I37L	probably benign	Het
Mov10l1	A	G	15: 88,895,589 (GRCm39)	Y585C	possibly damaging	Het
Msr1	G	A	8: 40,042,334 (GRCm39)	Q414*	probably null	Het
Myh13	T	C	11: 67,261,776 (GRCm39)	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,024,679 (GRCm39)	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,508,731 (GRCm39)	Y530D	probably damaging	Het
Or1ad1	T	C	11: 50,876,194 (GRCm39)	F222S	probably damaging	Het
Or4c11	T	A	2: 88,695,697 (GRCm39)	F249L	probably benign	Het
Or52s1b	T	A	7: 102,822,574 (GRCm39)	H90L	probably benign	Het
Or5b24	A	T	19: 12,912,503 (GRCm39)	T134S	probably benign	Het
Or7e174	T	A	9: 20,012,878 (GRCm39)	N274K	probably benign	Het
Or8j3b	A	G	2: 86,205,265 (GRCm39)	F164L	probably damaging	Het
Pde10a	T	G	17: 9,172,574 (GRCm39)	V648G	probably damaging	Het
Pde7b	T	A	10: 20,294,547 (GRCm39)	H258L	probably damaging	Het
Pik3cb	A	G	9: 98,946,080 (GRCm39)	V582A	possibly damaging	Het
Plxnb1	T	C	9: 108,930,091 (GRCm39)	S316P	probably benign	Het
Pmpca	C	T	2: 26,282,530 (GRCm39)	T246I	probably damaging	Het
Reep3	A	T	10: 66,898,788 (GRCm39)	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,699,149 (GRCm39)	M252V	probably damaging	Het
Rnf168	C	A	16: 32,117,781 (GRCm39)	D447E	probably damaging	Het
Rnf31	T	C	14: 55,834,221 (GRCm39)	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,407,433 (GRCm39)	L340*	probably null	Het
Scn2a	A	G	2: 65,519,085 (GRCm39)	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,501,711 (GRCm39)	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,138,550 (GRCm39)	I344F	probably benign	Het
Slc9a2	T	A	1: 40,758,178 (GRCm39)	L239Q	probably damaging	Het
Smg5	T	C	3: 88,262,978 (GRCm39)	F794L	probably damaging	Het
Smim13	C	T	13: 41,426,168 (GRCm39)	S68L	possibly damaging	Het
Sos2	A	T	12: 69,661,432 (GRCm39)	Y680N	probably damaging	Het
Spag6	T	A	2: 18,739,057 (GRCm39)	M329K	possibly damaging	Het
Spire2	G	A	8: 124,088,105 (GRCm39)		probably null	Het
Tdrd9	T	A	12: 112,011,238 (GRCm39)	V1149D	probably benign	Het
Tns3	T	A	11: 8,468,261 (GRCm39)	Y321F	probably benign	Het
Top3b	T	C	16: 16,698,493 (GRCm39)	V112A	probably benign	Het
Trafd1	G	A	5: 121,517,715 (GRCm39)	T26I	probably damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,564,615 (GRCm39)	L20S	unknown	Het
Vmn2r82	A	T	10: 79,214,545 (GRCm39)	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,458 (GRCm39)	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,090,962 (GRCm39)		probably null	Het
Vwc2	C	T	11: 11,104,262 (GRCm39)	P265S	probably damaging	Het
Zbtb9	T	A	17: 27,193,612 (GRCm39)	I339N	probably damaging	Het
Zfp335	T	C	2: 164,740,161 (GRCm39)	T764A	probably benign	Het
Zfp366	T	A	13: 99,383,063 (GRCm39)	V742D	probably damaging	Het
Zfp709	A	T	8: 72,644,506 (GRCm39)	Y645F	probably damaging	Het
Zmym2	T	A	14: 57,150,548 (GRCm39)	C424S	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
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
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'- TCATGCAGATTCCACTAGCTTCACG -3'
(R):5'- CAAGAAGGACAGAGTTTCCTGGCAC -3'

Sequencing Primer
(F):5'- GTAAAGGACTACCAAGTCTGCTTC -3'
(R):5'- CACTTGATTGGAATGGGCACC -3'

Posted On

2014-03-14