Mutagenetix > Incidental Mutation

Incidental Mutation 'R8975:Hhat'

683354

Institutional Source

Beutler Lab

Gene Symbol

Hhat

Ensembl Gene

ENSMUSG00000037375

Gene Name

hedgehog acyltransferase

Synonyms

Skn, 2810432O22Rik

MMRRC Submission

068809-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

192195133-192453546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 192431250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 33 (E33G)

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: E33G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046686
Gene: ENSMUSG00000037375
AA Change: E33G

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: E33G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375
AA Change: E33G

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: E33G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141575
Gene: ENSMUSG00000037375
AA Change: E33G

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: 99.1%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,192 (GRCm39)	D47G	probably damaging	Het
4930550C14Rik	A	T	9: 53,334,258 (GRCm39)	K167M	possibly damaging	Het
Abhd16b	A	G	2: 181,135,806 (GRCm39)	N236S	probably benign	Het
Ahnak	T	G	19: 8,990,101 (GRCm39)	V3795G	probably damaging	Het
Atg2b	A	T	12: 105,602,725 (GRCm39)	M1606K	probably damaging	Het
Bmt2	A	T	6: 13,630,611 (GRCm39)	I187K	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep290	A	G	10: 100,349,782 (GRCm39)	N610D	possibly damaging	Het
Ctps1	C	T	4: 120,406,743 (GRCm39)	D338N	probably benign	Het
Ctsz	A	T	2: 174,275,421 (GRCm39)	I118N	probably benign	Het
Depdc1b	A	G	13: 108,525,094 (GRCm39)	E483G	probably null	Het
Dhh	T	C	15: 98,795,976 (GRCm39)	S60G	probably damaging	Het
Dpagt1	T	C	9: 44,237,446 (GRCm39)		probably benign	Het
Dpy19l1	T	C	9: 24,359,102 (GRCm39)	K162R	probably damaging	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Dyrk4	T	C	6: 126,871,783 (GRCm39)	N162D	probably benign	Het
Efcab3	A	G	11: 104,954,415 (GRCm39)	K5090E	probably benign	Het
Eml5	T	A	12: 98,776,829 (GRCm39)	T1429S	probably damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fer1l5	A	G	1: 36,456,897 (GRCm39)	D1625G	probably benign	Het
Frmd4b	G	A	6: 97,283,477 (GRCm39)	T484M	possibly damaging	Het
Ifngr1	A	G	10: 19,485,360 (GRCm39)	D453G	probably damaging	Het
Itpr3	T	A	17: 27,335,628 (GRCm39)	I2246N	possibly damaging	Het
Larp4b	T	G	13: 9,195,537 (GRCm39)	I212S	probably damaging	Het
Lilra5	T	C	7: 4,241,636 (GRCm39)	V145A	probably benign	Het
Map1lc3a	A	G	2: 155,118,926 (GRCm39)	K30R	possibly damaging	Het
Mapk8ip1	A	G	2: 92,215,166 (GRCm39)	Y652H	probably damaging	Het
Med23	A	G	10: 24,780,334 (GRCm39)	E994G	probably benign	Het
Mep1b	A	T	18: 21,208,714 (GRCm39)	D30V	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mki67	T	C	7: 135,300,129 (GRCm39)	D1635G	probably benign	Het
Msantd5f6	A	G	4: 73,320,167 (GRCm39)	L204P	probably damaging	Het
Mup3	A	T	4: 62,003,472 (GRCm39)	D132E	probably benign	Het
Myo15b	A	T	11: 115,781,780 (GRCm39)	T2830S	unknown	Het
Myocd	T	A	11: 65,069,287 (GRCm39)	H979L	probably damaging	Het
Nvl	A	T	1: 180,958,001 (GRCm39)	N260K	probably benign	Het
Or2a57	T	A	6: 43,213,056 (GRCm39)	H171Q	probably benign	Het
Or2d2b	T	A	7: 106,705,664 (GRCm39)	T135S	probably benign	Het
Or4d2	T	A	11: 87,784,645 (GRCm39)	Y35F	probably damaging	Het
Pdha2	C	A	3: 140,917,649 (GRCm39)		probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phtf2	A	C	5: 20,969,249 (GRCm39)	V687G	probably damaging	Het
Plagl2	C	T	2: 153,074,346 (GRCm39)	G185D	possibly damaging	Het
Ppp1r3e	A	G	14: 55,113,946 (GRCm39)	V242A	probably benign	Het
Proser3	A	G	7: 30,239,458 (GRCm39)	S549P	possibly damaging	Het
Prrc2c	A	G	1: 162,533,630 (GRCm39)	V995A	unknown	Het
Ptpn13	A	G	5: 103,649,266 (GRCm39)	H223R	probably benign	Het
Rsf1	CG	CGTCGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn11a	T	C	9: 119,587,565 (GRCm39)	E1393G	probably damaging	Het
Sipa1l1	T	A	12: 82,479,612 (GRCm39)	S1432T	possibly damaging	Het
Slc10a5	G	C	3: 10,399,670 (GRCm39)	A330G	probably benign	Het
Slc2a5	A	C	4: 150,224,270 (GRCm39)	N293H	probably damaging	Het
Spmap1	A	T	11: 97,663,572 (GRCm39)	Y93N	probably damaging	Het
Spmip4	C	T	6: 50,561,391 (GRCm39)	R176H	probably damaging	Het
Sptbn1	T	C	11: 30,073,869 (GRCm39)	E1400G	possibly damaging	Het
Stk33	T	A	7: 108,935,280 (GRCm39)	I171F	probably damaging	Het
Syne1	G	A	10: 5,161,945 (GRCm39)	H5450Y	probably benign	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tkt	T	A	14: 30,288,884 (GRCm39)		probably benign	Het
Tpra1	A	T	6: 88,888,726 (GRCm39)	M303L	probably benign	Het
Ubr3	T	C	2: 69,752,651 (GRCm39)	S303P	probably damaging	Het
Uqcrc1	T	C	9: 108,776,721 (GRCm39)	F341S	probably damaging	Het
Vmn1r223	T	C	13: 23,434,248 (GRCm39)	S281P	possibly damaging	Het
Vmn1r32	C	A	6: 66,530,189 (GRCm39)	A196S	probably benign	Het
Zfp644	G	T	5: 106,785,467 (GRCm39)	T360N	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
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
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
Z1177:Hhat	UTSW	1	192,343,800 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAGTCTGGTTCATTGTCCAAC -3'
(R):5'- CTGGAACTTAGGTCCCAACATAGG -3'

Sequencing Primer
(F):5'- TTGTCCAACACAACACACTTC -3'
(R):5'- CCAACATAGGGAAGGAATTTCAG -3'

Posted On

2021-10-11