Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01691:Gm43191'

104112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm43191

Ensembl Gene

ENSMUSG00000105103

Gene Name

predicted gene 43191

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01691

Quality Score

Status

Chromosome

Chromosomal Location

116435551-116474909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116471616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 218 (I218L)

Ref Sequence

ENSEMBL: ENSMUSP00000112674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029569] [ENSMUST00000120120] [ENSMUST00000153108] [ENSMUST00000196335]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029569
AA Change: I218L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: I218L

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	1	314	2.3e-141	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120120
AA Change: I218L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: I218L

Domain	Start	End	E-Value	Type
Pfam:UAA	13	320	1.4e-11	PFAM
Pfam:EamA	29	156	2.1e-8	PFAM
Pfam:TPT	38	154	1.2e-7	PFAM
Pfam:Nuc_sug_transp	68	306	6.3e-105	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000140672
AA Change: I57L

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: I57L

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	2	129	2.4e-39	PFAM
Pfam:MFS_1	104	235	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153108

SMART Domains

Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957

Domain	Start	End	E-Value	Type
Pfam:UAA	10	209	1.6e-10	PFAM
Pfam:EamA	27	156	6.2e-9	PFAM
Pfam:TPT	37	154	3.2e-8	PFAM
Pfam:Nuc_sug_transp	68	212	1.6e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196331

Predicted Effect

probably benign
Transcript: ENSMUST00000196335

SMART Domains

Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:EamA	29	156	6.8e-7	PFAM
Pfam:TPT	34	154	1.6e-6	PFAM
Pfam:Nuc_sug_transp	68	167	5.9e-40	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	T	A	3: 32,774,349 (GRCm39)	M282K	possibly damaging	Het
Adam22	T	C	5: 8,142,742 (GRCm39)	N831S	probably damaging	Het
Adamdec1	C	T	14: 68,810,556 (GRCm39)	R200Q	probably damaging	Het
Asb15	A	G	6: 24,567,271 (GRCm39)	I531V	probably benign	Het
Btrc	T	A	19: 45,501,117 (GRCm39)	D223E	probably benign	Het
Ccdc30	T	A	4: 119,250,761 (GRCm39)	E161V	probably damaging	Het
Cd38	G	A	5: 44,060,928 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,161,185 (GRCm39)	F94S	probably damaging	Het
Cwf19l1	C	T	19: 44,109,311 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,430,269 (GRCm39)	N96K	probably benign	Het
Ephb6	G	A	6: 41,591,449 (GRCm39)	R202H	probably benign	Het
Gm7168	G	A	17: 14,169,140 (GRCm39)	S169N	probably damaging	Het
Gm7964	T	C	7: 83,405,344 (GRCm39)		noncoding transcript	Het
Kif20b	T	C	19: 34,913,143 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,702,089 (GRCm39)	T906A	probably benign	Het
Mboat2	A	G	12: 25,004,221 (GRCm39)	N341D	probably damaging	Het
Msh6	T	C	17: 88,292,907 (GRCm39)	V554A	probably benign	Het
Ndc80	T	C	17: 71,815,634 (GRCm39)	T384A	possibly damaging	Het
Or1af1	G	T	2: 37,110,038 (GRCm39)	C179F	probably damaging	Het
Or8g18	G	A	9: 39,149,315 (GRCm39)	T135I	probably benign	Het
Ptpn5	G	T	7: 46,732,906 (GRCm39)	H312Q	probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rgs20	T	C	1: 4,987,145 (GRCm39)	T124A	probably benign	Het
Sox18	T	C	2: 181,313,143 (GRCm39)	S58G	possibly damaging	Het
Togaram2	A	G	17: 72,036,485 (GRCm39)	M1012V	probably null	Het
Usp48	A	T	4: 137,350,583 (GRCm39)		probably null	Het

Other mutations in Gm43191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Gm43191	APN	3	116,439,112 (GRCm39)	missense	probably damaging	0.99
IGL01632:Gm43191	APN	3	116,445,116 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21