Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01581:Gmfg'

91371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gmfg

Ensembl Gene

ENSMUSG00000060791

Gene Name

glia maturation factor, gamma

Synonyms

2310057N07Rik, 0610039G16Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01581

Quality Score

Status

Chromosome

Chromosomal Location

28136894-28147655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28142646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 18 (N18I)

Ref Sequence

ENSEMBL: ENSMUSP00000119321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040531] [ENSMUST00000078845] [ENSMUST00000108289] [ENSMUST00000108292] [ENSMUST00000135686]

AlphaFold

Q9ERL7

Predicted Effect

probably benign
Transcript: ENSMUST00000040531

SMART Domains

Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336

Domain	Start	End	E-Value	Type
low complexity region	81	90	N/A	INTRINSIC
low complexity region	174	190	N/A	INTRINSIC
low complexity region	200	211	N/A	INTRINSIC
low complexity region	278	290	N/A	INTRINSIC
SAM	296	359	1.02e-9	SMART
low complexity region	406	420	N/A	INTRINSIC
low complexity region	433	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078845
AA Change: N51I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077889
Gene: ENSMUSG00000060791
AA Change: N51I

Domain	Start	End	E-Value	Type
ADF	12	139	2.54e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108289
AA Change: N10I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103924
Gene: ENSMUSG00000060791
AA Change: N10I

Domain	Start	End	E-Value	Type
ADF	2	98	1.56e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108292
AA Change: N51I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103927
Gene: ENSMUSG00000060791
AA Change: N51I

Domain	Start	End	E-Value	Type
ADF	12	139	2.54e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135686
AA Change: N18I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119321
Gene: ENSMUSG00000060791
AA Change: N18I

Domain	Start	End	E-Value	Type
Pfam:Cofilin_ADF	1	87	2.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138741

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Mex3a	T	C	3: 88,443,671 (GRCm39)	I249T	probably damaging	Het
Mgp	T	C	6: 136,852,660 (GRCm39)		probably benign	Het
Sdsl	A	G	5: 120,597,632 (GRCm39)	V225A	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,337,973 (GRCm39)	K93R	possibly damaging	Het
Slc22a26	C	T	19: 7,779,549 (GRCm39)	R89H	probably benign	Het
Smpd2	T	C	10: 41,365,524 (GRCm39)	D28G	possibly damaging	Het
Vmn2r70	A	T	7: 85,213,122 (GRCm39)		probably null	Het

Other mutations in Gmfg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Gmfg	APN	7	28,145,810 (GRCm39)	missense	possibly damaging	0.76
IGL02691:Gmfg	APN	7	28,144,295 (GRCm39)	missense	probably damaging	0.98
R0670:Gmfg	UTSW	7	28,140,953 (GRCm39)	missense	probably damaging	0.98
R3607:Gmfg	UTSW	7	28,140,961 (GRCm39)	splice site	probably null
R4332:Gmfg	UTSW	7	28,136,997 (GRCm39)	start codon destroyed	probably benign	0.00
R4583:Gmfg	UTSW	7	28,145,369 (GRCm39)	missense	probably damaging	1.00
R5348:Gmfg	UTSW	7	28,145,819 (GRCm39)	missense	probably benign	0.18
R9574:Gmfg	UTSW	7	28,145,359 (GRCm39)	nonsense	probably null
R9680:Gmfg	UTSW	7	28,140,733 (GRCm39)	critical splice donor site	probably null
X0021:Gmfg	UTSW	7	28,145,365 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-09