Mutagenetix > Incidental Mutation

Incidental Mutation 'R4851:Hhatl'

373559

Institutional Source

Beutler Lab

Gene Symbol

Hhatl

Ensembl Gene

ENSMUSG00000032523

Gene Name

hedgehog acyltransferase-like

Synonyms

Mg56, Mitsugumin 56, Gup1, 1110011D13Rik

MMRRC Submission

042463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121613082-121621573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121618077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 226 (D226G)

Ref Sequence

ENSEMBL: ENSMUSP00000131971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000163981] [ENSMUST00000214768] [ENSMUST00000215477] [ENSMUST00000215910] [ENSMUST00000217652]

AlphaFold

Q9D1G3

Predicted Effect

probably damaging
Transcript: ENSMUST00000035110
AA Change: D226G

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

SMART Domains

Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: D226G

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
Pfam:MBOAT	63	448	2.7e-15	PFAM
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163981
AA Change: D226G

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

SMART Domains

Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: D226G

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
transmembrane domain	65	87	N/A	INTRINSIC
Pfam:MBOAT	97	444	3.7e-16	PFAM
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214768

Predicted Effect

probably benign
Transcript: ENSMUST00000215477

Predicted Effect

probably benign
Transcript: ENSMUST00000215910

Predicted Effect

probably benign
Transcript: ENSMUST00000217652

Meta Mutation Damage Score

0.4181

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,890 (GRCm39)	R4148S	probably benign	Het
Acoxl	T	A	2: 127,886,311 (GRCm39)	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,665,088 (GRCm39)	T364A	possibly damaging	Het
App	T	C	16: 84,853,322 (GRCm39)	D252G	unknown	Het
Arid1a	A	G	4: 133,408,672 (GRCm39)	I1945T	unknown	Het
Arsk	C	T	13: 76,213,398 (GRCm39)		probably null	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Best1	C	A	19: 9,969,062 (GRCm39)	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,312,300 (GRCm39)		probably null	Het
Cdh13	C	T	8: 119,484,129 (GRCm39)	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,552,902 (GRCm39)	E25G	probably benign	Het
Cgnl1	T	A	9: 71,632,314 (GRCm39)	I346F	probably damaging	Het
Chil6	C	T	3: 106,297,244 (GRCm39)	G299D	possibly damaging	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,450,738 (GRCm39)	I23V	probably benign	Het
Col6a3	T	A	1: 90,707,011 (GRCm39)	Y2034F	unknown	Het
Coq10b	T	C	1: 55,110,903 (GRCm39)	Y224H	probably benign	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Cyb5rl	T	G	4: 106,941,510 (GRCm39)	S252A	probably benign	Het
Cyp2ab1	T	A	16: 20,133,814 (GRCm39)	R125S	probably damaging	Het
Dclk1	G	A	3: 55,387,811 (GRCm39)	G86R	probably damaging	Het
Dmtn	A	G	14: 70,842,254 (GRCm39)	M382T	probably damaging	Het
Dnaaf8	A	G	16: 4,794,138 (GRCm39)		noncoding transcript	Het
Dnah12	T	A	14: 26,437,784 (GRCm39)	L471*	probably null	Het
Dock10	A	T	1: 80,526,874 (GRCm39)	S782T	probably benign	Het
Egfem1	C	A	3: 29,206,032 (GRCm39)	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,595,079 (GRCm39)	W698R	probably benign	Het
Exoc4	T	A	6: 33,895,343 (GRCm39)	C787S	probably damaging	Het
Exosc8	A	T	3: 54,639,523 (GRCm39)		probably benign	Het
Galc	T	A	12: 98,193,533 (GRCm39)	Q352L	probably benign	Het
Galns	A	G	8: 123,327,272 (GRCm39)	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,185,528 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,033,750 (GRCm39)		noncoding transcript	Het
Gm7694	T	C	1: 170,128,794 (GRCm39)	N245S	probably benign	Het
Gmcl1	T	G	6: 86,681,538 (GRCm39)	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,810,200 (GRCm39)	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,566,433 (GRCm39)	A90P	probably benign	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Hcar1	T	C	5: 124,016,731 (GRCm39)	E320G	probably benign	Het
Hoxc5	T	A	15: 102,923,801 (GRCm39)	I199N	probably damaging	Het
Iars2	T	C	1: 185,059,845 (GRCm39)	D121G	probably damaging	Het
Il5ra	T	A	6: 106,715,432 (GRCm39)	H134L	probably benign	Het
Isl2	T	A	9: 55,452,271 (GRCm39)	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,932,383 (GRCm39)	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,409,066 (GRCm39)	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,255,676 (GRCm39)	H131L	probably damaging	Het
Mipol1	T	A	12: 57,379,087 (GRCm39)	L182I	probably damaging	Het
Morc1	T	G	16: 48,381,980 (GRCm39)	S513R	probably benign	Het
Moxd2	A	T	6: 40,855,756 (GRCm39)	L611H	probably damaging	Het
Mpped2	T	C	2: 106,529,724 (GRCm39)		probably benign	Het
Mrpl51	T	C	6: 125,170,270 (GRCm39)	V92A	probably benign	Het
Mrps26	G	A	2: 130,405,681 (GRCm39)		probably benign	Het
Mrps5	A	G	2: 127,432,665 (GRCm39)	T29A	probably benign	Het
Mustn1	A	G	14: 30,601,517 (GRCm39)		probably benign	Het
Ncor2	G	A	5: 125,110,431 (GRCm39)	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,529,759 (GRCm39)	F807S	probably damaging	Het
Nup50	G	A	15: 84,823,912 (GRCm39)	V422I	probably benign	Het
Or10x1	T	A	1: 174,196,562 (GRCm39)	F26L	probably benign	Het
Or13a25	A	T	7: 140,247,226 (GRCm39)	M2L	probably benign	Het
Or1e25	A	T	11: 73,493,883 (GRCm39)	H159L	probably damaging	Het
Or2ag13	A	T	7: 106,473,221 (GRCm39)	V77D	probably damaging	Het
Or3a1d	C	A	11: 74,237,769 (GRCm39)	V214L	probably benign	Het
Or4c107	A	G	2: 88,788,930 (GRCm39)	N40S	probably damaging	Het
Or8b44	T	A	9: 38,410,319 (GRCm39)	M118K	probably damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Osbpl8	T	A	10: 111,040,661 (GRCm39)	M1K	probably null	Het
Pcdhb22	A	C	18: 37,652,087 (GRCm39)	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,949,457 (GRCm39)	R291L	probably damaging	Het
Saysd1	A	T	14: 20,127,672 (GRCm39)	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,758,508 (GRCm39)	I50T	probably benign	Het
Smg7	G	A	1: 152,720,020 (GRCm39)	P834S	probably benign	Het
Speer4a1	C	T	5: 26,243,210 (GRCm39)	V92M	probably damaging	Het
Srf	T	C	17: 46,860,400 (GRCm39)	T461A	probably benign	Het
Ssu72	A	G	4: 155,800,053 (GRCm39)	D72G	possibly damaging	Het
Suco	T	C	1: 161,661,761 (GRCm39)	E890G	probably damaging	Het
Tenm3	A	G	8: 48,763,656 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,515,091 (GRCm39)	E7G	probably null	Het
Tm9sf2	A	G	14: 122,378,616 (GRCm39)	K240R	probably benign	Het
Tmem52	T	A	4: 155,554,825 (GRCm39)	Y149*	probably null	Het
Tpgs2	A	T	18: 25,284,305 (GRCm39)	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,777,074 (GRCm39)	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,482,953 (GRCm39)	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,156 (GRCm39)	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,152,312 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,186,598 (GRCm39)	S342C	probably damaging	Het
Zfp961	T	C	8: 72,722,847 (GRCm39)		probably benign	Het

Other mutations in Hhatl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02948:Hhatl	APN	9	121,618,857 (GRCm39)	missense	probably benign	0.21
R0270:Hhatl	UTSW	9	121,613,786 (GRCm39)	missense	probably benign	0.14
R0399:Hhatl	UTSW	9	121,617,828 (GRCm39)	missense	probably benign	0.00
R0417:Hhatl	UTSW	9	121,617,828 (GRCm39)	missense	probably benign	0.00
R0436:Hhatl	UTSW	9	121,617,828 (GRCm39)	missense	probably benign	0.00
R1741:Hhatl	UTSW	9	121,618,125 (GRCm39)	missense	possibly damaging	0.67
R2250:Hhatl	UTSW	9	121,617,237 (GRCm39)	missense	possibly damaging	0.67
R2284:Hhatl	UTSW	9	121,618,648 (GRCm39)	missense	probably damaging	1.00
R2513:Hhatl	UTSW	9	121,618,236 (GRCm39)	missense	probably benign	0.13
R4278:Hhatl	UTSW	9	121,613,285 (GRCm39)	missense	probably benign
R4717:Hhatl	UTSW	9	121,618,943 (GRCm39)	missense	probably damaging	1.00
R5759:Hhatl	UTSW	9	121,617,343 (GRCm39)	missense	probably damaging	1.00
R6330:Hhatl	UTSW	9	121,617,291 (GRCm39)	splice site	probably null
R6387:Hhatl	UTSW	9	121,619,467 (GRCm39)	missense	probably benign	0.09
R6460:Hhatl	UTSW	9	121,618,588 (GRCm39)	missense	probably benign	0.32
R6541:Hhatl	UTSW	9	121,614,210 (GRCm39)	missense	probably damaging	1.00
R6651:Hhatl	UTSW	9	121,613,768 (GRCm39)	missense	probably damaging	1.00
R6670:Hhatl	UTSW	9	121,618,137 (GRCm39)	missense	probably damaging	0.96
R6914:Hhatl	UTSW	9	121,617,246 (GRCm39)	missense	probably benign
R6942:Hhatl	UTSW	9	121,617,246 (GRCm39)	missense	probably benign
R7026:Hhatl	UTSW	9	121,617,339 (GRCm39)	missense	probably benign	0.26
R7251:Hhatl	UTSW	9	121,614,116 (GRCm39)	critical splice donor site	probably null
R7323:Hhatl	UTSW	9	121,618,652 (GRCm39)	missense	probably benign
R7958:Hhatl	UTSW	9	121,613,652 (GRCm39)	critical splice donor site	probably null
R8365:Hhatl	UTSW	9	121,618,931 (GRCm39)	missense	probably damaging	1.00
R8425:Hhatl	UTSW	9	121,618,168 (GRCm39)	missense	probably benign	0.30
R8771:Hhatl	UTSW	9	121,617,776 (GRCm39)	missense	possibly damaging	0.78
R8797:Hhatl	UTSW	9	121,619,965 (GRCm39)	intron	probably benign
R9339:Hhatl	UTSW	9	121,618,862 (GRCm39)	missense	probably benign	0.01
R9370:Hhatl	UTSW	9	121,617,836 (GRCm39)	missense	possibly damaging	0.52
R9546:Hhatl	UTSW	9	121,618,649 (GRCm39)	missense	probably damaging	1.00
R9547:Hhatl	UTSW	9	121,618,649 (GRCm39)	missense	probably damaging	1.00
R9570:Hhatl	UTSW	9	121,613,282 (GRCm39)	missense	possibly damaging	0.66
R9617:Hhatl	UTSW	9	121,618,191 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTGAATGTGCCATAGCTCGC -3'
(R):5'- TTTGATCTTCAAGACGTACTGTTCC -3'

Sequencing Primer
(F):5'- ACTGGCTCCTGGCTCAC -3'
(R):5'- TCAAGACGTACTGTTCCACGGTG -3'

Posted On

2016-03-01