Mutagenetix > Incidental Mutation

Incidental Mutation 'R7534:Hhat'

583437

Institutional Source

Beutler Lab

Gene Symbol

Hhat

Ensembl Gene

ENSMUSG00000037375

Gene Name

hedgehog acyltransferase

Synonyms

Skn, 2810432O22Rik

MMRRC Submission

045606-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192195133-192453546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 192408612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 173 (L173H)

Ref Sequence

ENSEMBL: ENSMUSP00000120479 (fasta)

Gene Model

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

AlphaFold

Q8BMT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044190
AA Change: L173H

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

SMART Domains

Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: L173H

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: L173H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: L173H

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: L173H

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

SMART Domains

Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: L173H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	A	C	17: 35,390,390 (GRCm39)	M120R	possibly damaging	Het
Ank2	T	C	3: 126,727,982 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Apc	T	C	18: 34,450,015 (GRCm39)	S2304P	probably damaging	Het
AW551984	A	T	9: 39,502,777 (GRCm39)	C632S	probably benign	Het
Bicra	T	C	7: 15,705,860 (GRCm39)	N1527S	probably damaging	Het
Cacna1d	A	G	14: 29,801,319 (GRCm39)	L1363P	probably damaging	Het
Cacna1g	G	A	11: 94,301,904 (GRCm39)	P2037S	probably benign	Het
Cdc27	A	G	11: 104,399,240 (GRCm39)	L724S	probably damaging	Het
Cttnbp2	C	T	6: 18,420,764 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,421,580 (GRCm39)	A280V	probably benign	Het
Dclk3	G	A	9: 111,297,286 (GRCm39)	G277R	probably benign	Het
Ddr1	A	G	17: 35,993,514 (GRCm39)		probably null	Het
Dnah7c	A	C	1: 46,809,227 (GRCm39)	D3515A	probably damaging	Het
Elovl4	G	A	9: 83,672,172 (GRCm39)	T49M	probably damaging	Het
Fam13b	A	T	18: 34,631,060 (GRCm39)	F40I	probably damaging	Het
Fancd2os	T	C	6: 113,574,601 (GRCm39)	H135R	probably benign	Het
Fer1l6	A	G	15: 58,509,875 (GRCm39)	I1446V	probably damaging	Het
Fyb2	T	A	4: 104,856,545 (GRCm39)	Y584*	probably null	Het
Galnt16	A	T	12: 80,643,909 (GRCm39)	L442F	probably damaging	Het
Garem1	T	A	18: 21,432,973 (GRCm39)		probably benign	Het
Ggta1	C	T	2: 35,292,440 (GRCm39)	R289Q	probably damaging	Het
Gm11564	T	C	11: 99,706,347 (GRCm39)	T28A	unknown	Het
Hcn1	A	G	13: 118,111,961 (GRCm39)	T642A	unknown	Het
Hook1	T	G	4: 95,905,834 (GRCm39)	I585S	probably benign	Het
Ighg1	A	T	12: 113,293,349 (GRCm39)	S114T		Het
Kmt2d	G	A	15: 98,749,899 (GRCm39)	P2598L	unknown	Het
Macc1	A	T	12: 119,411,254 (GRCm39)	H674L	probably benign	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Or2n1	T	A	17: 38,486,188 (GRCm39)	M71K	probably benign	Het
Or7e170	A	G	9: 19,795,472 (GRCm39)	V43A	probably benign	Het
Or9g3	A	C	2: 85,589,803 (GRCm39)	L306V	probably benign	Het
Pnliprp2	T	A	19: 58,763,574 (GRCm39)	S408T	probably benign	Het
Ppara	A	C	15: 85,661,927 (GRCm39)	Y56S	probably benign	Het
Ppp1r1a	A	G	15: 103,440,816 (GRCm39)	C114R	probably benign	Het
Pycard	C	T	7: 127,592,657 (GRCm39)	V57I	probably damaging	Het
Relch	G	A	1: 105,668,748 (GRCm39)	R993Q	probably benign	Het
Rin3	T	G	12: 102,317,200 (GRCm39)	Y143D	unknown	Het
Slc12a7	A	G	13: 73,912,187 (GRCm39)		probably benign	Het
Slitrk3	C	T	3: 72,957,440 (GRCm39)	R444H	probably damaging	Het
Ttf2	C	T	3: 100,857,728 (GRCm39)		probably null	Het
Ufsp2	T	A	8: 46,433,361 (GRCm39)	I25N	probably benign	Het
Uqcrc2	A	G	7: 120,240,912 (GRCm39)	T115A	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,230 (GRCm39)	R328*	probably null	Het
Vmn2r8	T	A	5: 108,950,040 (GRCm39)	Y269F	possibly damaging	Het
Zbtb5	T	C	4: 44,995,030 (GRCm39)	Y118C	probably damaging	Het
Zeb1	T	C	18: 5,766,611 (GRCm39)	V374A	probably damaging	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
R4988:Hhat	UTSW	1	192,339,602 (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
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'- CTACCTGTCTGAAGAACTCCGG -3'
(R):5'- GGTTGCCACTGGGTAAATCC -3'

Sequencing Primer
(F):5'- TGTCTGAAGAACTCCGGGAAGTTAAG -3'
(R):5'- ACTGGGTAAATCCTTTGTTCTCAAC -3'

Posted On

2019-10-17