Mutagenetix > Incidental Mutation

Incidental Mutation 'R7143:Hephl1'

553552

Institutional Source

Beutler Lab

Gene Symbol

Hephl1

Ensembl Gene

ENSMUSG00000031936

Gene Name

hephaestin-like 1

Synonyms

zyklopen, thd, cw, Zp, LOC244698

MMRRC Submission

045222-MU

Accession Numbers

Essential gene?

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

Stock #

R7143 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14963137-15023404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14972106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 945 (K945E)

Ref Sequence

ENSEMBL: ENSMUSP00000124518 (fasta)

Gene Model

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

AlphaFold

Q3V1H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159985
AA Change: K945E

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: K945E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	C	T	7: 103,708,422 (GRCm39)	C129Y	probably damaging	Het
Agbl4	A	G	4: 111,474,333 (GRCm39)	N374S	probably damaging	Het
Agl	A	G	3: 116,585,670 (GRCm39)	S153P	probably damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Ankrd17	C	A	5: 90,433,820 (GRCm39)	A650S	possibly damaging	Het
Ankrd53	A	G	6: 83,739,893 (GRCm39)	R16G	possibly damaging	Het
Apba2	T	C	7: 64,394,165 (GRCm39)	L570P	probably damaging	Het
Asap1	A	G	15: 64,063,377 (GRCm39)	F101L	probably damaging	Het
Cadm4	T	A	7: 24,198,992 (GRCm39)	I89N	possibly damaging	Het
Cadps	C	T	14: 12,491,838 (GRCm38)	V771I	probably benign	Het
Cenph	A	G	13: 100,898,285 (GRCm39)	V206A	possibly damaging	Het
Cenpn	A	G	8: 117,663,966 (GRCm39)	T253A	probably benign	Het
Cep120	C	T	18: 53,816,457 (GRCm39)	G939R	probably benign	Het
Cfap57	G	A	4: 118,477,906 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,791,673 (GRCm39)	I166V	probably benign	Het
Cstf3	T	A	2: 104,476,961 (GRCm39)	V144E	probably benign	Het
Cyp21a1	T	A	17: 35,021,300 (GRCm39)	H357L	probably damaging	Het
Cyth3	T	A	5: 143,670,151 (GRCm39)	V12E	unknown	Het
Dgat2	T	C	7: 98,806,331 (GRCm39)	I289V	probably benign	Het
Dip2a	A	G	10: 76,133,625 (GRCm39)	C527R	probably damaging	Het
Dnah17	A	C	11: 117,976,956 (GRCm39)	W1879G	probably damaging	Het
Dnai2	A	G	11: 114,645,076 (GRCm39)	T504A	possibly damaging	Het
Efl1	C	T	7: 82,411,888 (GRCm39)	P759L	probably damaging	Het
Egfr	A	C	11: 16,821,627 (GRCm39)	I351L	probably benign	Het
Ercc6	G	A	14: 32,292,262 (GRCm39)	E1209K	probably damaging	Het
Fam135b	A	T	15: 71,351,000 (GRCm39)	M292K	probably benign	Het
Fbxl7	C	A	15: 26,543,244 (GRCm39)	V468L	probably benign	Het
Fhl2	G	T	1: 43,181,011 (GRCm39)	H60N	probably damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Gata4	C	A	14: 63,442,066 (GRCm39)	R252L	probably damaging	Het
Glt8d1	T	A	14: 30,728,602 (GRCm39)	I10N	probably damaging	Het
Gm10803	T	A	2: 93,394,304 (GRCm39)	Y25*	probably null	Het
Gm19345	T	C	7: 19,591,759 (GRCm39)	F108S	unknown	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Gprc6a	C	T	10: 51,490,986 (GRCm39)	R921H	probably benign	Het
Hc	A	T	2: 34,940,450 (GRCm39)	H129Q	probably benign	Het
Heatr5a	T	C	12: 52,008,251 (GRCm39)	R31G	probably benign	Het
Ik	G	T	18: 36,884,230 (GRCm39)	M237I	probably damaging	Het
Izumo1	T	A	7: 45,276,519 (GRCm39)	S361T	probably benign	Het
Kcnq4	A	G	4: 120,568,436 (GRCm39)	F427L	probably benign	Het
Kifap3	T	A	1: 163,683,609 (GRCm39)	M430K	possibly damaging	Het
Kifap3	A	T	1: 163,653,428 (GRCm39)	N338I	possibly damaging	Het
Lamb3	A	G	1: 192,986,873 (GRCm39)	E53G	probably damaging	Het
Lrp1b	A	T	2: 41,202,655 (GRCm39)	I1266K		Het
Nat8	A	T	6: 85,807,485 (GRCm39)	I216K	probably benign	Het
Ncapd2	T	C	6: 125,156,524 (GRCm39)	I454V	probably benign	Het
Nlrp4f	A	T	13: 65,343,120 (GRCm39)	V153E	probably damaging	Het
Nlrp4f	G	C	13: 65,347,166 (GRCm39)	Q9E	possibly damaging	Het
Npy2r	A	T	3: 82,448,250 (GRCm39)	I175N	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or1l4b	A	G	2: 37,036,886 (GRCm39)	T221A	probably benign	Het
Or4a74	T	C	2: 89,440,363 (GRCm39)	M28V	probably benign	Het
Or52n3	C	T	7: 104,530,393 (GRCm39)	P160S	probably damaging	Het
Pcdh9	T	C	14: 94,125,708 (GRCm39)	N154S	probably damaging	Het
Pcdhb2	A	T	18: 37,428,934 (GRCm39)	E302D	probably benign	Het
Pclo	T	A	5: 14,908,836 (GRCm39)	V5048E	unknown	Het
Pcnt	A	G	10: 76,224,894 (GRCm39)	L1870S	possibly damaging	Het
Pigc	T	C	1: 161,798,161 (GRCm39)	Y48H	probably damaging	Het
Pisd	C	T	5: 32,895,846 (GRCm39)	V241I	possibly damaging	Het
Pkhd1l1	A	T	15: 44,437,033 (GRCm39)	M3464L	possibly damaging	Het
Pofut2	T	A	10: 77,095,260 (GRCm39)	I35N	probably benign	Het
Prss27	A	G	17: 24,264,632 (GRCm39)	Y265C	probably damaging	Het
Prss56	T	A	1: 87,115,875 (GRCm39)	I583K	probably benign	Het
Rnpep	T	C	1: 135,211,487 (GRCm39)	E87G	probably benign	Het
Shtn1	T	C	19: 59,007,338 (GRCm39)	H304R	probably damaging	Het
Slc23a4	A	T	6: 34,955,848 (GRCm39)	I62N	probably damaging	Het
Slc35e2	A	T	4: 155,703,051 (GRCm39)	I355F	probably benign	Het
Snx25	T	C	8: 46,488,752 (GRCm39)	I868V	possibly damaging	Het
Spatc1l	T	A	10: 76,405,765 (GRCm39)	L323Q	probably damaging	Het
Speer4a2	T	A	5: 26,290,674 (GRCm39)	I166F	probably benign	Het
Taok1	A	G	11: 77,428,814 (GRCm39)	V962A	probably benign	Het
Tas2r140	A	G	6: 133,032,482 (GRCm39)	I92T	probably benign	Het
Trim17	C	A	11: 58,856,010 (GRCm39)	Y22*	probably null	Het
Tti1	T	A	2: 157,849,596 (GRCm39)	M548L	probably benign	Het
Unc93b1	T	C	19: 3,985,204 (GRCm39)	V4A	unknown	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r225	A	T	17: 20,722,646 (GRCm39)	Y29F	probably benign	Het
Vmn1r34	A	T	6: 66,614,648 (GRCm39)	I30N	probably benign	Het
Vmn2r67	T	A	7: 84,801,846 (GRCm39)	M152L	probably benign	Het
Wdr20rt	T	G	12: 65,272,692 (GRCm39)	F52V	probably benign	Het
Zfp869	G	T	8: 70,159,306 (GRCm39)	H422Q	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
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
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
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'- TTCCACCAGAGCCATAGTGG -3'
(R):5'- AAGTCGCTCATTGAACTTGGTTAC -3'

Sequencing Primer
(F):5'- GAAGGCTATTTCCAGACATCCCTG -3'
(R):5'- GAACTTGGTTACTTTTTCCGTCCAGG -3'

Posted On

2019-05-15