Mutagenetix > Incidental Mutations

Incidental Mutation 'R6239:Hhat'

505097

Institutional Source

Beutler Lab

Gene Symbol

Hhat

Ensembl Gene

ENSMUSG00000037375

Gene Name

hedgehog acyltransferase

Synonyms

2810432O22Rik, Skn, AP-2CRE, Tg(TFAP2A-cre)1Will

MMRRC Submission

044363-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192496711-192771223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 192595087 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 355 (Y355N)

Ref Sequence

ENSEMBL: ENSMUSP00000141575 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000044190
AA Change: Y355N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: Y355N

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

probably damaging
Transcript: ENSMUST00000128619
AA Change: Y355N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: Y355N

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

probably damaging
Transcript: ENSMUST00000192585
AA Change: Y355N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: Y355N

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

Meta Mutation Damage Score

0.9421

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,696,465	S373T	probably benign	Het
Aox2	G	A	1: 58,305,391		probably null	Het
Apol7c	T	C	15: 77,526,431	E105G	probably benign	Het
B4galnt2	C	T	11: 95,876,239	A184T	probably damaging	Het
Casz1	A	G	4: 148,938,277	Q600R	probably damaging	Het
Cep152	A	T	2: 125,579,412	S1133T	probably benign	Het
Cep295	T	C	9: 15,322,631	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,780,845	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,995,403	C124R	probably damaging	Het
Cspg4	A	G	9: 56,888,182	D1067G	probably benign	Het
Cyp1a1	T	A	9: 57,702,078	V354E	probably benign	Het
Cyp2t4	A	T	7: 27,157,475	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,351,270	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,488,816	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,494,877	F288I	probably damaging	Het
Dnah8	C	T	17: 30,810,359	R4101C	probably damaging	Het
Dnase2a	G	T	8: 84,908,879		probably null	Het
Dnmbp	C	T	19: 43,848,185	V1235I	probably benign	Het
Dusp27	A	T	1: 166,098,819	S1075T	probably damaging	Het
Eml6	T	C	11: 29,749,275	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,280,434	Y337C	probably benign	Het
Flg2	A	T	3: 93,201,272	E202D	probably benign	Het
Fus	C	T	7: 127,981,434	R228C	possibly damaging	Het
Gatsl3	A	G	11: 4,218,967	T45A	possibly damaging	Het
Gbf1	A	G	19: 46,259,696	E304G	probably benign	Het
Ggt1	A	G	10: 75,585,681		probably null	Het
Gm19410	A	T	8: 35,778,764	D354V	probably damaging	Het
Hdac4	T	C	1: 92,054,972	D8G	probably benign	Het
Ift140	T	C	17: 25,028,972	V268A	probably benign	Het
Il4i1	A	G	7: 44,840,412	R542G	probably benign	Het
Itga2b	C	T	11: 102,465,318	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,819,796		probably benign	Het
Lrit3	A	T	3: 129,800,346	I194N	probably damaging	Het
Mast4	A	G	13: 102,736,209	L2025P	probably benign	Het
Neb	T	C	2: 52,273,988	N1986S	probably benign	Het
Osbpl7	G	A	11: 97,052,824		probably null	Het
Pabpc2	T	A	18: 39,773,838	L52Q	probably damaging	Het
Pald1	T	C	10: 61,321,131	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,282,401	D557G	probably damaging	Het
Prmt2	A	T	10: 76,222,591	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981	A172S	probably benign	Het
Ptpro	A	T	6: 137,380,608	T366S	probably benign	Het
Reg4	A	G	3: 98,231,284	K100R	probably null	Het
Rims2	A	T	15: 39,198,363	M1L	unknown	Het
Sele	A	G	1: 164,050,808	S239G	probably damaging	Het
Slc11a1	G	A	1: 74,384,115	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,406,697	T554A	unknown	Het
Snw1	A	T	12: 87,464,628	N84K	probably damaging	Het
Stpg4	T	C	17: 87,411,239	Y171C	probably benign	Het
Tmem222	T	A	4: 133,268,295	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,533,777	R206S	probably damaging	Het
Trappc11	G	A	8: 47,529,494	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,644,826	T25I	probably benign	Het
Ttr	T	C	18: 20,673,635	V114A	possibly damaging	Het
Umod	C	T	7: 119,477,297	C82Y	probably damaging	Het
Upk3a	T	A	15: 85,021,314	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,454,540	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,794,234	R851S	probably benign	Het
Wdr78	A	C	4: 103,066,443	N396K	probably benign	Het
Zfp236	G	T	18: 82,657,104	T421K	possibly damaging	Het
Zswim9	C	A	7: 13,261,331	G300*	probably null	Het

Other mutations in Hhat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Hhat	APN	1	192717017	missense	probably damaging	1.00
IGL02578:Hhat	APN	1	192693913	missense	probably damaging	0.98
R0420:Hhat	UTSW	1	192552934	splice site	probably null
R0842:Hhat	UTSW	1	192726331	missense	probably benign	0.07
R1794:Hhat	UTSW	1	192693906	nonsense	probably null
R1978:Hhat	UTSW	1	192717107	missense	probably benign	0.03
R2073:Hhat	UTSW	1	192727379	missense	possibly damaging	0.94
R2571:Hhat	UTSW	1	192553022	missense	probably damaging	1.00
R2891:Hhat	UTSW	1	192595086	missense	probably damaging	1.00
R4685:Hhat	UTSW	1	192595054	missense	probably damaging	1.00
R4781:Hhat	UTSW	1	192686979	intron	probably benign
R4988:Hhat	UTSW	1	192657294	intron	probably benign
R5002:Hhat	UTSW	1	192543190	missense	probably benign	0.23
R5018:Hhat	UTSW	1	192595038	missense	probably damaging	1.00
R5023:Hhat	UTSW	1	192727339	missense	probably damaging	1.00
R5695:Hhat	UTSW	1	192717019	missense	probably damaging	0.99
R6151:Hhat	UTSW	1	192759757	missense	probably damaging	1.00
R7007:Hhat	UTSW	1	192693826	missense	possibly damaging	0.51
R7079:Hhat	UTSW	1	192553046	missense	possibly damaging	0.95
R7534:Hhat	UTSW	1	192726304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAGGGTGTCTCTAGCAG -3'
(R):5'- TAACCTAAAGCCACTCCCTGTG -3'

Sequencing Primer
(F):5'- GTGTCTCTAGCAGCCTCCG -3'
(R):5'- TTTGTCAACAATGAGTGAAGTGG -3'

Posted On

2018-02-28