Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02684:Gm43638'

303486

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm43638

Ensembl Gene

ENSMUSG00000107180

Gene Name

predicted gene 43638

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02684

Quality Score

Status

Chromosome

Chromosomal Location

87608099-87634665 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87610769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 522 (I522V)

Ref Sequence

ENSEMBL: ENSMUSP00000143986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079811] [ENSMUST00000144144] [ENSMUST00000147854] [ENSMUST00000201519]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079811
AA Change: I356V

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078740
Gene: ENSMUSG00000029268
AA Change: I356V

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:UDPGT	22	525	3.5e-233	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144144
AA Change: I108V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114842
Gene: ENSMUSG00000029268
AA Change: I108V

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	277	2.3e-168	PFAM
Pfam:Glyco_tran_28_C	100	203	7.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147854
AA Change: I356V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114583
Gene: ENSMUSG00000106677
AA Change: I356V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	525	1.2e-235	PFAM
Pfam:Glyco_tran_28_C	332	453	1.4e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201519
AA Change: I522V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143986
Gene: ENSMUSG00000107180
AA Change: I522V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDPGT	21	240	2.3e-54	PFAM
Pfam:UDPGT	236	499	2.9e-75	PFAM
Pfam:UDPGT	498	691	2.6e-116	PFAM
Pfam:Glyco_tran_28_C	512	618	3.1e-6	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,532,020 (GRCm39)	L185*	probably null	Het
Aadacl4fm5	A	G	4: 144,504,755 (GRCm39)		probably benign	Het
Actrt3	A	T	3: 30,653,840 (GRCm39)	D53E	probably benign	Het
Ankrd34b	T	C	13: 92,575,016 (GRCm39)	S83P	probably damaging	Het
Asap1	A	G	15: 63,966,018 (GRCm39)	V1029A	probably benign	Het
Blk	T	C	14: 63,617,143 (GRCm39)	E288G	probably benign	Het
Cep192	T	G	18: 67,967,634 (GRCm39)	V706G	probably damaging	Het
Chd2	T	C	7: 73,125,097 (GRCm39)	K908E	probably damaging	Het
Dnm1l	A	T	16: 16,139,521 (GRCm39)	I391N	possibly damaging	Het
Fmn1	A	G	2: 113,355,622 (GRCm39)	R688G	unknown	Het
Gdap2	A	G	3: 100,078,336 (GRCm39)	D100G	probably benign	Het
Gsap	A	T	5: 21,447,801 (GRCm39)		probably null	Het
Hoxd12	A	G	2: 74,505,905 (GRCm39)	S159G	probably benign	Het
Ints7	A	G	1: 191,345,749 (GRCm39)		probably null	Het
Iqsec3	G	A	6: 121,389,900 (GRCm39)	Q524*	probably null	Het
Klra10	T	A	6: 130,258,845 (GRCm39)	H14L	possibly damaging	Het
Lratd1	T	C	12: 14,200,646 (GRCm39)	D27G	probably damaging	Het
Mettl15	T	C	2: 108,961,925 (GRCm39)	E228G	probably damaging	Het
Or51v8	T	C	7: 103,319,591 (GRCm39)	M216V	probably benign	Het
Or9s18	G	A	13: 65,300,210 (GRCm39)	M57I	probably damaging	Het
Pabpc1l	A	G	2: 163,873,197 (GRCm39)	N156D	probably benign	Het
Pkhd1l1	G	T	15: 44,379,605 (GRCm39)		probably null	Het
Pm20d1	T	A	1: 131,732,697 (GRCm39)	N345K	probably benign	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Sos2	A	G	12: 69,643,440 (GRCm39)	L980S	probably damaging	Het
Stam2	A	T	2: 52,609,947 (GRCm39)	H56Q	probably damaging	Het
Trpm6	T	A	19: 18,779,571 (GRCm39)		probably benign	Het
Trpm7	A	T	2: 126,688,079 (GRCm39)	D249E	probably damaging	Het
Vmn1r203	A	T	13: 22,708,539 (GRCm39)	T107S	possibly damaging	Het
Vmn2r55	A	G	7: 12,404,887 (GRCm39)	L172P	probably damaging	Het
Vrtn	A	G	12: 84,696,923 (GRCm39)	R558G	probably benign	Het
Zfp977	A	T	7: 42,232,439 (GRCm39)	D7E	probably damaging	Het

Other mutations in Gm43638

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Gm43638	APN	5	87,608,258 (GRCm39)	missense	probably damaging	0.98
IGL01015:Gm43638	APN	5	87,634,473 (GRCm39)	nonsense	probably null
IGL01081:Gm43638	APN	5	87,634,455 (GRCm39)	missense	probably damaging	1.00
IGL01296:Gm43638	APN	5	87,608,451 (GRCm39)	missense	probably benign	0.22
IGL01449:Gm43638	APN	5	87,634,074 (GRCm39)	missense	possibly damaging	0.95
IGL01767:Gm43638	APN	5	87,613,290 (GRCm39)	missense	probably damaging	1.00
IGL02412:Gm43638	APN	5	87,633,995 (GRCm39)	missense	possibly damaging	0.95
IGL03343:Gm43638	APN	5	87,608,484 (GRCm39)	missense	possibly damaging	0.85
R0233:Gm43638	UTSW	5	87,622,860 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16