Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01632:Gm43191'

93492

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 #

IGL01632

Quality Score

Status

Chromosome

Chromosomal Location

116435551-116474909 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116445116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 39 (H39Q)

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: H39Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029570
Gene: ENSMUSG00000089911
AA Change: H39Q

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: ENSMUST00000138418

Predicted Effect

unknown
Transcript: ENSMUST00000140672
AA Change: H102Q

SMART Domains

Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: H102Q

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

noncoding transcript
Transcript: ENSMUST00000150402

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
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Alms1	T	A	6: 85,604,928 (GRCm39)	C1724S	probably benign	Het
Anapc10	T	C	8: 80,439,795 (GRCm39)	M1T	probably null	Het
Antxrl	A	G	14: 33,789,904 (GRCm39)	N332S	probably damaging	Het
Cdkl3	A	G	11: 51,895,899 (GRCm39)	R49G	probably damaging	Het
Chodl	A	G	16: 78,741,452 (GRCm39)		probably benign	Het
Clca3a1	G	T	3: 144,733,202 (GRCm39)	A102D	probably damaging	Het
Clip1	T	C	5: 123,755,559 (GRCm39)	E1029G	probably damaging	Het
Cpeb2	T	A	5: 43,394,765 (GRCm39)	I581N	probably benign	Het
Dmxl1	T	C	18: 49,996,092 (GRCm39)	V406A	probably damaging	Het
Dnah17	C	T	11: 117,924,707 (GRCm39)	R3960Q	probably damaging	Het
Fstl5	A	G	3: 76,615,135 (GRCm39)	D732G	probably benign	Het
Fyb2	G	T	4: 104,853,008 (GRCm39)	V499L	probably benign	Het
Hspg2	A	G	4: 137,242,084 (GRCm39)	K606R	probably damaging	Het
Klk1b27	C	T	7: 43,706,097 (GRCm39)		probably benign	Het
Mdga2	T	C	12: 66,676,672 (GRCm39)		probably benign	Het
Mup14	A	T	4: 61,259,383 (GRCm39)	F56L	probably benign	Het
Myh15	A	G	16: 48,881,874 (GRCm39)	K39E	probably benign	Het
Or1j10	A	T	2: 36,267,576 (GRCm39)	N263Y	probably benign	Het
Or5m12	A	G	2: 85,734,714 (GRCm39)	I228T	probably benign	Het
Ppp1r3a	T	A	6: 14,754,810 (GRCm39)	I146F	probably damaging	Het
Ryr2	A	G	13: 11,609,854 (GRCm39)	I759T	probably damaging	Het
Sfmbt1	T	C	14: 30,539,669 (GRCm39)	I819T	probably damaging	Het
Siglec1	A	G	2: 130,925,740 (GRCm39)	V322A	probably benign	Het
Spata3	T	C	1: 85,950,030 (GRCm39)	V87A	possibly damaging	Het
Tacstd2	A	G	6: 67,511,783 (GRCm39)	V303A	possibly damaging	Het
Taok3	T	A	5: 117,403,993 (GRCm39)	F723I	possibly damaging	Het
Tektl1	T	C	10: 78,584,536 (GRCm39)	S329G	probably benign	Het
Vmn1r210	A	T	13: 23,011,366 (GRCm39)	*307R	probably null	Het
Vmn2r70	T	C	7: 85,215,280 (GRCm39)	I85V	probably benign	Het
Zfp384	T	C	6: 125,001,724 (GRCm39)	I123T	probably damaging	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
IGL01691:Gm43191	APN	3	116,471,616 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09