Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Iah1'

685374

Institutional Source

Beutler Lab

Gene Symbol

Iah1

Ensembl Gene

ENSMUSG00000062054

Gene Name

isoamyl acetate-hydrolyzing esterase 1 homolog

Synonyms

1500019E20Rik, 4833421E05Rik

MMRRC Submission

068837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21366363-21373608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21367402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 36 (G36D)

Ref Sequence

ENSEMBL: ENSMUSP00000076090 (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 damaging
Transcript: ENSMUST00000076813
AA Change: G36D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076090
Gene: ENSMUSG00000062054
AA Change: G36D

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

probably benign
Transcript: ENSMUST00000221042

Predicted Effect

probably benign
Transcript: ENSMUST00000221693

Predicted Effect

probably damaging
Transcript: ENSMUST00000223345
AA Change: G36D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,935 (GRCm39)	C497S	probably benign	Het
4930453N24Rik	A	T	16: 64,589,377 (GRCm39)	Y92*	probably null	Het
Adam3	A	G	8: 25,205,127 (GRCm39)	V117A	probably benign	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Armh4	T	A	14: 50,011,695 (GRCm39)	D4V	probably damaging	Het
Atp6v0a4	T	C	6: 38,029,988 (GRCm39)	K692R	probably benign	Het
Atp8b1	A	G	18: 64,684,931 (GRCm39)	V730A	probably benign	Het
Bdh2	T	C	3: 134,991,309 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,905,332 (GRCm39)		probably null	Het
Chrm4	T	C	2: 91,758,075 (GRCm39)	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,751,892 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,087,930 (GRCm39)	S349P	probably benign	Het
Ddx55	A	G	5: 124,697,370 (GRCm39)	N244S	probably damaging	Het
Dock1	A	G	7: 134,500,825 (GRCm39)		probably benign	Het
Dppa3	T	C	6: 122,605,724 (GRCm39)	S93P	probably damaging	Het
Echdc1	T	C	10: 29,220,426 (GRCm39)	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,416 (GRCm39)	L141Q	probably damaging	Het
Galnt15	T	C	14: 31,771,935 (GRCm39)	F451L	probably damaging	Het
Galnt9	G	A	5: 110,692,665 (GRCm39)	R33H	probably benign	Het
Jakmip1	A	G	5: 37,332,857 (GRCm39)	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,188,055 (GRCm39)	T866A	probably benign	Het
Kcnq4	T	A	4: 120,555,150 (GRCm39)	I678F	probably benign	Het
Lars2	A	T	9: 123,260,980 (GRCm39)	R384*	probably null	Het
Lman2	T	C	13: 55,500,773 (GRCm39)	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,587,564 (GRCm39)	D3897G		Het
Lrrn1	T	A	6: 107,544,820 (GRCm39)	I206N	probably damaging	Het
Mapkbp1	T	A	2: 119,850,143 (GRCm39)	L802H	probably damaging	Het
Meaf6	T	C	4: 125,001,450 (GRCm39)		probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,180,616 (GRCm39)	S955L	probably benign	Het
Mocs1	T	A	17: 49,756,819 (GRCm39)	M267K	probably damaging	Het
Mroh3	T	A	1: 136,128,110 (GRCm39)	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,198,878 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,492 (GRCm39)	Y532C	probably damaging	Het
Or51b6	A	G	7: 103,556,165 (GRCm39)	H170R		Het
Or6c205	A	T	10: 129,086,669 (GRCm39)	T89S	possibly damaging	Het
Ost4	A	G	5: 31,064,866 (GRCm39)	V5A	possibly damaging	Het
P2rx1	T	A	11: 72,900,059 (GRCm39)	C159S	probably damaging	Het
Paqr8	T	C	1: 21,005,614 (GRCm39)	L256P	possibly damaging	Het
Pgls	T	A	8: 72,048,689 (GRCm39)		probably benign	Het
Pkd2l1	T	C	19: 44,140,864 (GRCm39)	E566G	possibly damaging	Het
Plau	A	T	14: 20,889,613 (GRCm39)	H226L	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,872 (GRCm39)	N85S	probably damaging	Het
Rraga	T	C	4: 86,494,675 (GRCm39)	S174P	probably damaging	Het
Sacs	T	A	14: 61,445,185 (GRCm39)	D2410E	probably benign	Het
Sgms1	A	T	19: 32,137,227 (GRCm39)	M113K	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Sqor	T	A	2: 122,649,876 (GRCm39)	Y373*	probably null	Het
Stra6l	T	A	4: 45,864,910 (GRCm39)	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915 (GRCm39)	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,146,224 (GRCm39)	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,376,884 (GRCm39)	T91N	probably damaging	Het
Tigd2	T	G	6: 59,187,887 (GRCm39)	S251R	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnks1bp1	T	A	2: 84,901,048 (GRCm39)	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 55,855,542 (GRCm39)	V31A	probably benign	Het
Ttc41	T	C	10: 86,569,625 (GRCm39)	S668P	probably damaging	Het
Uggt2	A	T	14: 119,326,724 (GRCm39)	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,006,503 (GRCm39)	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,723,449 (GRCm39)	F297I	probably damaging	Het
Vps13c	A	G	9: 67,845,006 (GRCm39)	D2030G	probably benign	Het

Other mutations in Iah1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02082:Iah1	APN	12	21,367,405 (GRCm39)	nonsense	probably null
IGL02487:Iah1	APN	12	21,371,440 (GRCm39)	missense	probably damaging	1.00
R4684:Iah1	UTSW	12	21,366,434 (GRCm39)	start codon destroyed	probably null	0.99
R4872:Iah1	UTSW	12	21,367,426 (GRCm39)	missense	probably benign	0.06
R5089:Iah1	UTSW	12	21,373,309 (GRCm39)	missense	possibly damaging	0.64
R6624:Iah1	UTSW	12	21,369,785 (GRCm39)	nonsense	probably null
R8810:Iah1	UTSW	12	21,367,388 (GRCm39)	missense	probably benign	0.30
R9006:Iah1	UTSW	12	21,367,402 (GRCm39)	missense	probably damaging	1.00
R9666:Iah1	UTSW	12	21,366,587 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAGAGTTTCCAAGTGAAGCC -3'
(R):5'- AGCCAATACAAGTGCTGCTG -3'

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

Posted On

2021-10-11