Mutagenetix > Incidental Mutations

Incidental Mutation 'R0417:Hhatl'

40413

Institutional Source

Beutler Lab

Gene Symbol

Hhatl

Ensembl Gene

ENSMUSG00000032523

Gene Name

hedgehog acyltransferase-like

Synonyms

Gup1, 1110011D13Rik

MMRRC Submission

038619-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0417 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

121784016-121792507 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121788762 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 254 (A254T)

Ref Sequence

ENSEMBL: ENSMUSP00000131971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035110] [ENSMUST00000098272] [ENSMUST00000163981] [ENSMUST00000214768] [ENSMUST00000215477] [ENSMUST00000215910] [ENSMUST00000217652]

Predicted Effect

probably benign
Transcript: ENSMUST00000035110
AA Change: A254T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035110
Gene: ENSMUSG00000032523
AA Change: A254T

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 benign
Transcript: ENSMUST00000098272

SMART Domains

Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001

Domain	Start	End	E-Value	Type
BTB	33	128	4.61e-29	SMART
BACK	133	239	9.46e-30	SMART
low complexity region	262	276	N/A	INTRINSIC
Blast:BTB	300	355	2e-27	BLAST
Kelch	360	412	1.77e0	SMART
Kelch	413	462	1.29e-2	SMART
Kelch	463	510	4.68e-9	SMART
Kelch	511	557	2.06e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163981
AA Change: A254T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131971
Gene: ENSMUSG00000032523
AA Change: A254T

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700027J19Rik	A	G	7: 4,151,483	L102P	probably damaging	Het
1700030K09Rik	A	G	8: 72,445,400	K217R	probably damaging	Het
1810024B03Rik	A	G	2: 127,186,944	Y112H	probably damaging	Het
A430078G23Rik	T	C	8: 3,388,957		probably benign	Het
Acot2	T	C	12: 83,990,613	Y234H	probably benign	Het
Alox12e	C	T	11: 70,321,865	V53I	probably benign	Het
Ankrd50	T	C	3: 38,456,361	H619R	probably damaging	Het
Arfgef3	A	T	10: 18,603,511	L1452Q	probably damaging	Het
Arhgap42	T	C	9: 9,180,033	S82G	possibly damaging	Het
Bicra	C	A	7: 15,972,322	R1398L	probably damaging	Het
Boc	T	C	16: 44,520,234	T118A	probably benign	Het
Btnl9	A	G	11: 49,175,595	Y381H	probably damaging	Het
Cbln3	T	G	14: 55,884,129	E20A	probably benign	Het
Csrnp3	A	G	2: 66,019,543	Y171C	probably benign	Het
Cyp2d9	A	T	15: 82,455,951	I181F	probably damaging	Het
Cyp7b1	T	A	3: 18,096,691	T295S	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Dok1	A	T	6: 83,031,569	D377E	probably damaging	Het
Eed	A	T	7: 89,971,552	Y87*	probably null	Het
Entpd3	T	C	9: 120,557,421	V156A	probably damaging	Het
Exo5	T	A	4: 120,922,072	T199S	probably damaging	Het
Extl2	T	C	3: 116,024,357	I106T	probably benign	Het
Ezh2	A	G	6: 47,551,726	C291R	probably benign	Het
Flvcr1	A	T	1: 191,011,219	M466K	probably benign	Het
Fras1	G	T	5: 96,691,372	M1583I	probably benign	Het
Fzd9	G	T	5: 135,249,619	R471S	probably damaging	Het
Galr1	A	T	18: 82,405,540	F204Y	probably damaging	Het
Gm38394	A	T	1: 133,658,538	S354T	probably benign	Het
Gna11	A	T	10: 81,530,904	I324N	probably damaging	Het
Gucy1a2	A	G	9: 3,759,484	E430G	possibly damaging	Het
Ikzf1	A	C	11: 11,769,352	N353T	probably benign	Het
Il7	T	A	3: 7,576,027	T110S	probably damaging	Het
Keg1	A	G	19: 12,711,060	N53D	probably damaging	Het
Klhl21	T	C	4: 152,015,507	I558T	probably damaging	Het
Lca5l	G	A	16: 96,162,653	T357M	probably damaging	Het
Lrba	T	C	3: 86,715,654	S2448P	probably damaging	Het
Map3k6	T	A	4: 133,248,082	Y709*	probably null	Het
Megf6	A	G	4: 154,267,967	E1261G	probably benign	Het
Mettl3	C	T	14: 52,296,698	G473D	probably damaging	Het
Mga	A	G	2: 119,902,790	I40V	probably damaging	Het
Mmp13	T	A	9: 7,276,602	D232E	probably benign	Het
Nampt	T	C	12: 32,833,101	V95A	probably benign	Het
Nbeal1	T	C	1: 60,247,734	V905A	probably benign	Het
Nomo1	A	T	7: 46,068,698	E840V	possibly damaging	Het
Nprl2	A	T	9: 107,543,298	I101F	probably damaging	Het
Nup160	A	T	2: 90,735,427	I1378F	possibly damaging	Het
Ogdhl	T	C	14: 32,326,979	S69P	probably damaging	Het
Olfr1105	A	T	2: 87,033,445	Y259N	probably damaging	Het
Olfr1240	C	A	2: 89,440,175	V35L	possibly damaging	Het
Olfr1283	A	G	2: 111,369,105	S158G	possibly damaging	Het
Olfr1390	T	A	11: 49,340,673	I47N	possibly damaging	Het
Olfr143	T	C	9: 38,253,864	F149S	probably benign	Het
Olfr870	G	A	9: 20,171,214	A119V	probably damaging	Het
Olfr894	A	G	9: 38,219,455	I211V	probably benign	Het
Osbpl3	C	T	6: 50,348,018	V167I	probably benign	Het
Pclo	T	A	5: 14,713,022	H3836Q	unknown	Het
Prkcg	A	T	7: 3,304,304		probably null	Het
Ror1	A	T	4: 100,412,000	H345L	possibly damaging	Het
Slc36a2	C	T	11: 55,181,544		probably null	Het
Slc40a1	G	A	1: 45,911,374	P306L	possibly damaging	Het
Slc9a8	C	A	2: 167,457,344	T239K	probably benign	Het
Snapc3	A	G	4: 83,450,162	I299V	probably benign	Het
Sp3	G	A	2: 72,971,501	A56V	possibly damaging	Het
Spag17	T	A	3: 100,065,554	S1361T	probably benign	Het
Sptbn2	A	G	19: 4,737,926	T978A	probably benign	Het
Stom	C	A	2: 35,321,632	V126F	probably damaging	Het
Stpg2	A	G	3: 139,218,321	T162A	probably damaging	Het
Stxbp6	G	A	12: 44,902,957	T63M	probably damaging	Het
Tatdn1	A	C	15: 58,921,350	I69S	probably benign	Het
Tbata	A	T	10: 61,180,339	D198V	probably damaging	Het
Tbc1d5	T	C	17: 50,756,705	I638V	probably benign	Het
Tomm70a	A	G	16: 57,149,903	D548G	probably benign	Het
Ust	A	G	10: 8,245,936	F303L	probably damaging	Het
Vps13d	A	G	4: 144,976,560	S4306P	probably benign	Het
Zfp691	A	G	4: 119,170,496	S180P	possibly damaging	Het

Other mutations in Hhatl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02948:Hhatl	APN	9	121789791	missense	probably benign	0.21
R0270:Hhatl	UTSW	9	121784720	missense	probably benign	0.14
R0399:Hhatl	UTSW	9	121788762	missense	probably benign	0.00
R0436:Hhatl	UTSW	9	121788762	missense	probably benign	0.00
R1741:Hhatl	UTSW	9	121789059	missense	possibly damaging	0.67
R2250:Hhatl	UTSW	9	121788171	missense	possibly damaging	0.67
R2284:Hhatl	UTSW	9	121789582	missense	probably damaging	1.00
R2513:Hhatl	UTSW	9	121789170	missense	probably benign	0.13
R4278:Hhatl	UTSW	9	121784219	missense	probably benign
R4717:Hhatl	UTSW	9	121789877	missense	probably damaging	1.00
R4851:Hhatl	UTSW	9	121789011	missense	probably damaging	1.00
R5759:Hhatl	UTSW	9	121788277	missense	probably damaging	1.00
R6330:Hhatl	UTSW	9	121788225	splice site	probably null
R6387:Hhatl	UTSW	9	121790401	missense	probably benign	0.09
R6460:Hhatl	UTSW	9	121789522	missense	probably benign	0.32
R6541:Hhatl	UTSW	9	121785144	missense	probably damaging	1.00
R6651:Hhatl	UTSW	9	121784702	missense	probably damaging	1.00
R6670:Hhatl	UTSW	9	121789071	missense	probably damaging	0.96
R6914:Hhatl	UTSW	9	121788180	missense	probably benign
R6942:Hhatl	UTSW	9	121788180	missense	probably benign
R7026:Hhatl	UTSW	9	121788273	missense	probably benign	0.26
R7251:Hhatl	UTSW	9	121785050	critical splice donor site	probably null
R7323:Hhatl	UTSW	9	121789586	missense	probably benign
R7958:Hhatl	UTSW	9	121784586	critical splice donor site	probably null
R8365:Hhatl	UTSW	9	121789865	missense	probably damaging	1.00
R8425:Hhatl	UTSW	9	121789102	missense	probably benign	0.30
R8771:Hhatl	UTSW	9	121788710	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AATGAGCGTCCCTACACGTTTCAG -3'
(R):5'- AGAGCGTAGTCGAGTCTCCTTTTCC -3'

Sequencing Primer
(F):5'- ACGTTTCAGACTCAGTTCCGAG -3'
(R):5'- CCTGACCTGCCGTCTTAG -3'

Posted On

2013-05-23