Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Iah1'

376678

Institutional Source

Beutler Lab

Gene Symbol

Iah1

Ensembl Gene

ENSMUSG00000062054

Gene Name

isoamyl acetate-hydrolyzing esterase 1 homolog

Synonyms

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21316389-21323819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21317425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

Ref Sequence

ENSEMBL: ENSMUSP00000152708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000076813] [ENSMUST00000221693] [ENSMUST00000223345]

AlphaFold

Q9DB29

Predicted Effect

probably benign
Transcript: ENSMUST00000067284

SMART Domains

Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309

Domain	Start	End	E-Value	Type
Lactamase_B	24	234	8.27e-12	SMART
Beta-Casp	246	367	7.32e-45	SMART
Pfam:RMMBL	380	422	9.9e-17	PFAM
CPSF73-100_C	477	683	6.78e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000076813
AA Change: V44A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000076090
Gene: ENSMUSG00000062054
AA Change: V44A

Domain	Start	End	E-Value	Type
Pfam:Lipase_GDSL	18	213	1.3e-34	PFAM
Pfam:Lipase_GDSL_2	19	209	2.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220665

Predicted Effect

probably benign
Transcript: ENSMUST00000221042

Predicted Effect

probably benign
Transcript: ENSMUST00000221693

Predicted Effect

unknown
Transcript: ENSMUST00000222344
AA Change: V42A

Predicted Effect

probably benign
Transcript: ENSMUST00000223345
AA Change: V44A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,191,311	V100L	probably benign	Het
Acad11	G	A	9: 104,086,266		probably benign	Het
Actb	C	T	5: 142,905,552		probably benign	Het
Ano9	G	A	7: 141,107,204	A374V	probably damaging	Het
Baz2b	T	C	2: 59,942,759		probably null	Het
Bpifb9b	T	A	2: 154,313,631	L350Q	probably damaging	Het
Cd27	T	A	6: 125,234,318		probably null	Het
Cd72	A	G	4: 43,449,563		probably benign	Het
Cdadc1	A	T	14: 59,564,524	S516T	probably benign	Het
Chst5	T	A	8: 111,890,560	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,997,363	V452A	possibly damaging	Het
Cox11	C	A	11: 90,644,403	Q227K	probably benign	Het
Cpa6	A	G	1: 10,595,618		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dpm2	T	C	2: 32,571,191		probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Frem1	A	C	4: 82,963,150	N1273K	probably damaging	Het
Fry	T	C	5: 150,394,239		probably null	Het
Gm10306	G	T	4: 94,556,832		probably benign	Het
Gm5565	T	C	5: 146,158,103	T278A	probably benign	Het
Gm8180	A	G	14: 43,782,345	I40T	probably benign	Het
Iqgap3	C	T	3: 88,113,128	P360S	probably damaging	Het
Klhl28	T	A	12: 64,957,122	I206F	possibly damaging	Het
Krt13	A	G	11: 100,121,506		probably benign	Het
Lipo2	T	A	19: 33,749,514	D41V	probably benign	Het
Lrig2	C	G	3: 104,491,526	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,498,520	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,178,788	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Mgat4c	G	C	10: 102,388,738	R271P	probably damaging	Het
Mylk	A	G	16: 34,914,990	N780S	possibly damaging	Het
N4bp1	T	C	8: 86,861,048	T421A	probably benign	Het
Nat8f1	T	C	6: 85,910,313	T222A	probably benign	Het
Nsun2	T	C	13: 69,543,873		probably benign	Het
Oas2	T	A	5: 120,738,534	D448V	probably damaging	Het
Olfr129	C	A	17: 38,055,576	V6F	probably benign	Het
Olfr168	A	T	16: 19,530,633	C96S	probably damaging	Het
Olfr992	T	C	2: 85,400,428	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 100,227,997	L25Q	probably damaging	Het
Pigp	A	T	16: 94,365,450	V133D	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pomt2	C	T	12: 87,110,107	D752N	possibly damaging	Het
Ppat	T	C	5: 76,926,793	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,161,694	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,717,892	S289P	probably damaging	Het
Rbm39	G	A	2: 156,177,346	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,601,945	V417L	probably benign	Het
Rnf157	T	A	11: 116,355,472	E255D	possibly damaging	Het
Rpl6l	A	T	10: 111,126,443		noncoding transcript	Het
Sec24c	A	G	14: 20,693,745	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,908,037	A401S	probably benign	Het
Slc17a8	A	T	10: 89,576,505	D539E	probably benign	Het
Slc38a9	T	A	13: 112,689,564	S136R	probably damaging	Het
Smoc2	A	C	17: 14,369,033	T255P	probably benign	Het
Smyd2	T	C	1: 189,896,650	D152G	probably damaging	Het
Stab1	A	G	14: 31,140,393	V2328A	probably damaging	Het
Taar2	A	G	10: 23,940,693	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,444,708	K1251E	probably benign	Het
Thada	G	A	17: 84,446,599	L315F	probably damaging	Het
Trbv14	T	C	6: 41,135,325	S19P	probably benign	Het
Ttc39c	T	C	18: 12,687,116		probably benign	Het
Ttc39d	A	G	17: 80,217,098	I395M	probably benign	Het
Ttn	T	C	2: 76,718,384	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,970,183	V950A	probably damaging	Het
Uhrf1bp1	G	T	17: 27,890,136	D1110Y	probably benign	Het
Usp9y	T	A	Y: 1,307,920	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,790,754	T10I	possibly damaging	Het
Vmn2r78	T	A	7: 86,954,708	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,453,591	T145K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfp51	T	C	17: 21,464,671	V516A	probably benign	Het
Zfp654	A	T	16: 64,785,782	S686T	probably benign	Het
Zfp846	T	A	9: 20,590,815	C55S	probably benign	Het

Other mutations in Iah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02082:Iah1	APN	12	21317404	nonsense	probably null
IGL02487:Iah1	APN	12	21321439	missense	probably damaging	1.00
R4684:Iah1	UTSW	12	21316433	start codon destroyed	probably null	0.99
R5089:Iah1	UTSW	12	21323308	missense	possibly damaging	0.64
R6624:Iah1	UTSW	12	21319784	nonsense	probably null
R8810:Iah1	UTSW	12	21317387	missense	probably benign	0.30
R9006:Iah1	UTSW	12	21317401	missense	probably damaging	1.00
R9007:Iah1	UTSW	12	21317401	missense	probably damaging	1.00
R9666:Iah1	UTSW	12	21316586	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTTTCCAAGTGAAGCCACAG -3'
(R):5'- GAGCAGCCAATACAAGTGCTG -3'

Sequencing Primer
(F):5'- GTTTCCAAGTGAAGCCACAGTAATTC -3'
(R):5'- GCCAATACAAGTGCTGCTGGTTC -3'

Posted On

2016-03-17