Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Gm43191'

76142

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 #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

116435551-116474909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116439112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 130 (I130N)

Ref Sequence

ENSEMBL: ENSMUSP00000029570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029570]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029570
AA Change: I130N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: I130N

Domain	Start	End	E-Value	Type
Pfam:MFS_1	40	388	3.4e-33	PFAM
Pfam:MFS_2	182	407	3.6e-10	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138418

Predicted Effect

unknown
Transcript: ENSMUST00000140672
AA Change: I193N

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: I193N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,602,340 (GRCm39)	R691Q	probably benign	Het
Ambra1	G	T	2: 91,655,631 (GRCm39)	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,683,204 (GRCm39)	I198V	probably benign	Het
Bptf	T	C	11: 106,946,733 (GRCm39)	N2353S	probably benign	Het
Cd84	A	T	1: 171,713,937 (GRCm39)	T312S	probably benign	Het
Chl1	G	T	6: 103,692,325 (GRCm39)	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,666,433 (GRCm39)	D473G	probably damaging	Het
Dsp	A	G	13: 38,377,593 (GRCm39)	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,605,285 (GRCm39)	N2374S	probably benign	Het
Ecpas	A	G	4: 58,809,718 (GRCm39)	L1583P	probably damaging	Het
Gm5134	T	G	10: 75,840,581 (GRCm39)	L475R	probably damaging	Het
Grm1	A	G	10: 10,595,783 (GRCm39)	V615A	probably benign	Het
Inhca	T	C	9: 103,131,975 (GRCm39)	E504G	possibly damaging	Het
Loxl1	T	A	9: 58,201,705 (GRCm39)	Q462L	possibly damaging	Het
Nwd1	T	C	8: 73,401,743 (GRCm39)	W755R	probably damaging	Het
Or10j27	A	G	1: 172,958,098 (GRCm39)	S229P	possibly damaging	Het
Or5b106	G	A	19: 13,123,192 (GRCm39)	T277I	possibly damaging	Het
Or5t17	A	T	2: 86,833,267 (GRCm39)	K318M	probably benign	Het
Otud4	T	C	8: 80,400,390 (GRCm39)	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325 (GRCm39)	D551E	probably benign	Het
Panx3	T	G	9: 37,572,771 (GRCm39)	T260P	probably benign	Het
Ppfia4	A	T	1: 134,255,824 (GRCm39)	S194T	probably benign	Het
Rnf135	T	A	11: 80,080,081 (GRCm39)	I124N	probably benign	Het
Rpf1	T	C	3: 146,213,302 (GRCm39)	N283S	probably damaging	Het
Smg5	A	G	3: 88,266,951 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,531,849 (GRCm39)	E2702G	probably benign	Het
Tbk1	A	T	10: 121,395,776 (GRCm39)	M439K	probably benign	Het
Tmem235	T	C	11: 117,753,132 (GRCm39)	L85P	possibly damaging	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Ttn	T	C	2: 76,620,608 (GRCm39)		probably benign	Het
Vmn1r83	A	G	7: 12,055,160 (GRCm39)	F299S	probably benign	Het

Other mutations in Gm43191

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01632:Gm43191	APN	3	116,445,116 (GRCm39)	missense	probably damaging	1.00
IGL01691:Gm43191	APN	3	116,471,616 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07