Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Hhat'

385937

Institutional Source

Beutler Lab

Gene Symbol

Hhat

Ensembl Gene

ENSMUSG00000037375

Gene Name

hedgehog acyltransferase

Synonyms

Skn, 2810432O22Rik

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

192195133-192453546 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 192339602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044190] [ENSMUST00000128619] [ENSMUST00000192585]

AlphaFold

Q8BMT9

Predicted Effect

probably benign
Transcript: ENSMUST00000044190

SMART Domains

Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
transmembrane domain	71	88	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
Pfam:MBOAT	125	448	5.7e-51	PFAM
transmembrane domain	466	488	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123721

Predicted Effect

probably benign
Transcript: ENSMUST00000128619

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
transmembrane domain	71	88	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
Pfam:MBOAT	125	448	3.1e-60	PFAM
transmembrane domain	475	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154755

Predicted Effect

probably benign
Transcript: ENSMUST00000192585

SMART Domains

Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
transmembrane domain	71	88	N/A	INTRINSIC
transmembrane domain	95	117	N/A	INTRINSIC
Pfam:MBOAT	125	448	2.4e-51	PFAM
transmembrane domain	475	497	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
PHENOTYPE: Homozygous null mice display neonatal lethality, holoprosencephaly, short-limb dwarfism, and oligodactyly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,670,447 (GRCm39)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,154,236 (GRCm39)	N110S	probably benign	Het
Acaca	T	A	11: 84,154,121 (GRCm39)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,380,276 (GRCm39)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,058,550 (GRCm39)		noncoding transcript	Het
Arhgef4	A	T	1: 34,762,535 (GRCm39)	H597L	unknown	Het
Asgr2	A	G	11: 69,988,665 (GRCm39)	I119M	probably benign	Het
Casc3	T	G	11: 98,712,700 (GRCm39)		probably null	Het
Cbr1b	A	G	16: 93,426,884 (GRCm39)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,872,013 (GRCm39)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,416,950 (GRCm39)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,827,336 (GRCm39)	E476G	probably damaging	Het
Clec3a	T	A	8: 115,144,827 (GRCm39)	M1K	probably null	Het
Col9a1	T	C	1: 24,224,273 (GRCm39)	S152P	unknown	Het
Cpd	A	G	11: 76,705,656 (GRCm39)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm39)	L95*	probably null	Het
Dhx57	T	C	17: 80,558,827 (GRCm39)	D1044G	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,028,078 (GRCm39)	S418P	probably damaging	Het
Elp5	T	C	11: 69,870,668 (GRCm39)	D59G	probably benign	Het
Fam210a	G	A	18: 68,409,218 (GRCm39)	R31C	probably benign	Het
Farp1	A	G	14: 121,513,019 (GRCm39)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,511,917 (GRCm39)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm39)	L72M	probably benign	Het
Gm1758	A	T	16: 14,320,067 (GRCm39)		noncoding transcript	Het
Gm4553	G	A	7: 141,718,729 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,768,577 (GRCm39)	T33A	possibly damaging	Het
Hint2	T	C	4: 43,654,953 (GRCm39)	I59V	possibly damaging	Het
Hps4	C	T	5: 112,526,019 (GRCm39)		probably benign	Het
Hsd17b8	A	G	17: 34,246,262 (GRCm39)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,633,426 (GRCm39)	C192S	probably benign	Het
Map1a	C	T	2: 121,133,531 (GRCm39)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,537,578 (GRCm39)	N46S	probably benign	Het
Myo18a	T	C	11: 77,736,347 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,458,266 (GRCm39)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,836,005 (GRCm39)	G426D	probably damaging	Het
Nepro	A	G	16: 44,554,905 (GRCm39)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,626,379 (GRCm39)	T322I	possibly damaging	Het
Or10s1	G	A	9: 39,985,961 (GRCm39)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,624,996 (GRCm39)	I221T	possibly damaging	Het
Or2m13	A	T	16: 19,225,860 (GRCm39)	M302K	probably benign	Het
Or6c66	T	C	10: 129,461,930 (GRCm39)		probably null	Het
Pcdhb15	G	A	18: 37,608,855 (GRCm39)	A696T	probably damaging	Het
Polm	C	A	11: 5,787,618 (GRCm39)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm39)	R27*	probably null	Het
Proser1	T	C	3: 53,387,046 (GRCm39)	I845T	probably damaging	Het
Rassf8	A	G	6: 145,762,870 (GRCm39)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,586,069 (GRCm39)	C182*	probably null	Het
Slc6a19	C	T	13: 73,833,959 (GRCm39)	W366*	probably null	Het
St7	T	C	6: 17,934,225 (GRCm39)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,519,522 (GRCm39)	Y322F	possibly damaging	Het
Trav8n-2	A	T	14: 53,975,814 (GRCm39)		probably benign	Het
Vwa8	A	T	14: 79,435,723 (GRCm39)	H1811L	probably benign	Het
Zfp14	G	A	7: 29,737,482 (GRCm39)	T501I	probably benign	Het

Other mutations in Hhat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Hhat	APN	1	192,399,325 (GRCm39)	missense	probably damaging	1.00
IGL02578:Hhat	APN	1	192,376,221 (GRCm39)	missense	probably damaging	0.98
R0420:Hhat	UTSW	1	192,235,242 (GRCm39)	splice site	probably null
R0842:Hhat	UTSW	1	192,408,639 (GRCm39)	missense	probably benign	0.07
R1794:Hhat	UTSW	1	192,376,214 (GRCm39)	nonsense	probably null
R1978:Hhat	UTSW	1	192,399,415 (GRCm39)	missense	probably benign	0.03
R2073:Hhat	UTSW	1	192,409,687 (GRCm39)	missense	possibly damaging	0.94
R2571:Hhat	UTSW	1	192,235,330 (GRCm39)	missense	probably damaging	1.00
R2891:Hhat	UTSW	1	192,277,394 (GRCm39)	missense	probably damaging	1.00
R4685:Hhat	UTSW	1	192,277,362 (GRCm39)	missense	probably damaging	1.00
R4781:Hhat	UTSW	1	192,369,287 (GRCm39)	intron	probably benign
R5002:Hhat	UTSW	1	192,225,498 (GRCm39)	missense	probably benign	0.23
R5018:Hhat	UTSW	1	192,277,346 (GRCm39)	missense	probably damaging	1.00
R5023:Hhat	UTSW	1	192,409,647 (GRCm39)	missense	probably damaging	1.00
R5695:Hhat	UTSW	1	192,399,327 (GRCm39)	missense	probably damaging	0.99
R6151:Hhat	UTSW	1	192,442,065 (GRCm39)	missense	probably damaging	1.00
R6239:Hhat	UTSW	1	192,277,395 (GRCm39)	missense	probably damaging	1.00
R7007:Hhat	UTSW	1	192,376,134 (GRCm39)	missense	possibly damaging	0.51
R7079:Hhat	UTSW	1	192,235,354 (GRCm39)	missense	possibly damaging	0.95
R7534:Hhat	UTSW	1	192,408,612 (GRCm39)	missense	probably damaging	1.00
R8783:Hhat	UTSW	1	192,196,245 (GRCm39)	missense	probably damaging	1.00
R8915:Hhat	UTSW	1	192,277,203 (GRCm39)	missense	probably benign	0.17
R8975:Hhat	UTSW	1	192,431,250 (GRCm39)	missense	probably damaging	1.00
Z1177:Hhat	UTSW	1	192,343,800 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTCAAGATATCCTCTTCATGACC -3'
(R):5'- ATGATGACTGCGGGATAGC -3'

Sequencing Primer
(F):5'- GCCTGGTCTACAAAGAGAGTTCC -3'
(R):5'- TGCGGGATAGCAATGAGC -3'

Posted On

2016-05-10