Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00470:Hhat'

7294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hhat

Ensembl Gene

ENSMUSG00000037375

Gene Name

hedgehog acyltransferase

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00470

Quality Score

Status

Chromosome

Chromosomal Location

192496711-192771223 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192717017 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 272 (Y272H)

Ref Sequence

ENSEMBL: ENSMUSP00000141575 (fasta)

Gene Model

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

AlphaFold

Q8BMT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044190
AA Change: Y272H

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

SMART Domains

Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: Y272H

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: Y272H

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

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: Y272H

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 damaging
Transcript: ENSMUST00000192585
AA Change: Y272H

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

SMART Domains

Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: Y272H

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

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,773,003	S416T	probably damaging	Het
4732463B04Rik	G	T	12: 84,043,804		probably benign	Het
4921501E09Rik	T	A	17: 33,065,863	H655L	probably benign	Het
Abcd1	T	C	X: 73,717,548	L173P	probably damaging	Het
Adam18	T	A	8: 24,628,133	D41V	probably damaging	Het
Aspa	T	G	11: 73,313,621		probably benign	Het
C530008M17Rik	G	A	5: 76,866,056		probably benign	Het
Cacna2d1	T	A	5: 16,246,656		probably benign	Het
Cubn	T	A	2: 13,278,418	I3570L	probably benign	Het
Cyp2j13	G	A	4: 96,062,038	P242L	probably damaging	Het
Cysrt1	T	C	2: 25,239,501		probably benign	Het
Dchs1	A	T	7: 105,758,207	L2100H	probably damaging	Het
Ddb1	G	A	19: 10,611,664	A229T	possibly damaging	Het
Dst	A	T	1: 34,188,962	I1554F	probably damaging	Het
Dvl3	C	T	16: 20,530,939	P554L	probably damaging	Het
Fcgbp	C	A	7: 28,075,086	C28*	probably null	Het
Gm773	T	C	X: 56,202,013	D53G	probably benign	Het
Inpp5k	T	C	11: 75,645,525	S310P	probably benign	Het
Kat2a	G	A	11: 100,705,384	R782W	probably damaging	Het
Kcnh5	T	C	12: 74,897,796	D893G	probably benign	Het
Lama2	T	C	10: 27,243,742	T709A	probably benign	Het
Mcm8	G	A	2: 132,827,537	V281I	probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Nup133	T	G	8: 123,939,083	D201A	probably damaging	Het
Oxct2a	A	G	4: 123,323,390	L66P	possibly damaging	Het
Pcbp2	C	T	15: 102,490,713	A224V	probably damaging	Het
Pla2g4e	G	A	2: 120,185,238	S275F	probably benign	Het
Pxk	T	C	14: 8,130,754	F118L	probably damaging	Het
Sp2	C	T	11: 96,954,561	R578H	probably damaging	Het
Sphkap	A	G	1: 83,277,910	M706T	possibly damaging	Het
Tarsl2	T	C	7: 65,688,908	M689T	probably benign	Het
Trrap	T	C	5: 144,818,038	V2008A	probably damaging	Het
Txndc2	A	T	17: 65,638,574	S203T	probably benign	Het
Txnrd1	T	G	10: 82,875,662	D42E	probably damaging	Het
Zswim8	G	A	14: 20,723,181	D1746N	probably damaging	Het

Other mutations in Hhat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6239:Hhat	UTSW	1	192595087	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
R8783:Hhat	UTSW	1	192513937	missense	probably damaging	1.00
R8915:Hhat	UTSW	1	192594895	missense	probably benign	0.17
R8975:Hhat	UTSW	1	192748942	missense	probably damaging	1.00
Z1177:Hhat	UTSW	1	192661492	critical splice acceptor site	probably null

Posted On

2012-04-20