Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Gm438'

45276

Institutional Source

Beutler Lab

Gene Symbol

Gm438

Ensembl Gene

ENSMUSG00000078504

Gene Name

predicted gene 438

Synonyms

LOC329993

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144777204-144786583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144777415 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 389 (I389L)

Ref Sequence

ENSEMBL: ENSMUSP00000101372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105746]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105746
AA Change: I389L

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101372
Gene: ENSMUSG00000078504
AA Change: I389L

Domain	Start	End	E-Value	Type
transmembrane domain	3	25	N/A	INTRINSIC
Pfam:Abhydrolase_3	111	270	4.9e-22	PFAM
Pfam:Abhydrolase_3	284	366	1.3e-11	PFAM

Meta Mutation Damage Score

0.1697

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Slc38a9	A	T	13: 112,714,198	H372L	probably damaging	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Gm438

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Gm438	APN	4	144777689	nonsense	probably null
IGL01293:Gm438	APN	4	144777589	missense	probably benign	0.00
IGL01678:Gm438	APN	4	144777873	missense	probably benign	0.20
IGL02609:Gm438	APN	4	144779737	missense	probably damaging	1.00
IGL02684:Gm438	APN	4	144778185	splice site	probably benign
IGL02734:Gm438	APN	4	144779779	missense	probably damaging	1.00
IGL02869:Gm438	APN	4	144786368	missense	probably benign	0.01
IGL02988:Gm438	APN	4	144786530	utr 5 prime	probably benign
R1514:Gm438	UTSW	4	144777759	missense	probably damaging	1.00
R1856:Gm438	UTSW	4	144777883	missense	probably benign
R1957:Gm438	UTSW	4	144777819	missense	possibly damaging	0.94
R2014:Gm438	UTSW	4	144779725	missense	probably damaging	1.00
R2243:Gm438	UTSW	4	144777421	missense	probably benign
R4943:Gm438	UTSW	4	144777720	missense	probably benign	0.07
R5439:Gm438	UTSW	4	144778113	missense	probably damaging	1.00
R5520:Gm438	UTSW	4	144778024	missense	probably benign	0.00
R6414:Gm438	UTSW	4	144777415	missense	possibly damaging	0.57
R6664:Gm438	UTSW	4	144777399	makesense	probably null
R6869:Gm438	UTSW	4	144780472	critical splice donor site	probably null
R7384:Gm438	UTSW	4	144780621	missense	possibly damaging	0.89
R7439:Gm438	UTSW	4	144777762	missense	probably damaging	1.00
R7484:Gm438	UTSW	4	144777951	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTTCTCTGCTTCCACATCTAATTCCAACAT -3'
(R):5'- TCTGCACTTCATCAATTTTCAGTTACCATCAT -3'

Sequencing Primer
(F):5'- AACATGCGTCATGGATGTCTTC -3'
(R):5'- TGGACAGATGCCATGTCTAC -3'

Posted On

2013-06-11