Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02570:Gmfb'

298989

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gmfb

Ensembl Gene

ENSMUSG00000062014

Gene Name

glia maturation factor, beta

Synonyms

3110001H22Rik, 3110001O16Rik, D14Ertd630e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02570

Quality Score

Status

Chromosome

Chromosomal Location

47045606-47059699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47054904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 13 (D13E)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079314] [ENSMUST00000111817] [ENSMUST00000145958]

AlphaFold

Q9CQI3

Predicted Effect

probably benign
Transcript: ENSMUST00000079314
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078293
Gene: ENSMUSG00000062014
AA Change: D13E

Domain	Start	End	E-Value	Type
ADF	12	139	2.94e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111817
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107448
Gene: ENSMUSG00000062014
AA Change: D13E

Domain	Start	End	E-Value	Type
ADF	12	139	2.94e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145958

SMART Domains

Protein: ENSMUSP00000118225
Gene: ENSMUSG00000062014

Domain	Start	End	E-Value	Type
Pfam:Cofilin_ADF	1	80	1.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226333
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226842

Predicted Effect

probably benign
Transcript: ENSMUST00000226937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228515

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display impaired balance and eye blink conditioning behavior and abnormal metencephalon morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	C	17: 13,159,181 (GRCm39)	T3A	probably benign	Het
Anapc1	A	C	2: 128,487,120 (GRCm39)	F1087V	probably damaging	Het
Ccdc158	T	C	5: 92,796,885 (GRCm39)	T484A	possibly damaging	Het
Cps1	T	C	1: 67,187,862 (GRCm39)		probably benign	Het
Fscb	A	G	12: 64,518,952 (GRCm39)	I838T	unknown	Het
Gdap1	A	G	1: 17,215,709 (GRCm39)	Q5R	probably benign	Het
Gmds	A	G	13: 32,418,390 (GRCm39)		probably benign	Het
Gpcpd1	A	T	2: 132,389,605 (GRCm39)	V250D	probably benign	Het
Grin2b	T	C	6: 135,899,996 (GRCm39)	D295G	probably damaging	Het
Igkv1-135	A	T	6: 67,586,732 (GRCm39)	M2L	probably benign	Het
Impdh1	T	C	6: 29,203,197 (GRCm39)	Y375C	probably damaging	Het
Lrpprc	A	G	17: 85,057,981 (GRCm39)	Y750H	probably damaging	Het
Mab21l2	A	T	3: 86,454,531 (GRCm39)	S156R	possibly damaging	Het
Map4k4	T	C	1: 40,019,739 (GRCm39)	I146T	probably benign	Het
Pcdh18	A	T	3: 49,711,074 (GRCm39)	N80K	probably benign	Het
Pkhd1	A	G	1: 20,590,480 (GRCm39)	F1756L	probably damaging	Het
Plekhg3	A	G	12: 76,625,019 (GRCm39)	E1287G	probably benign	Het
Rev3l	T	A	10: 39,724,009 (GRCm39)	V2647E	possibly damaging	Het
Rxfp4	A	C	3: 88,560,149 (GRCm39)	S101A	probably damaging	Het
Spag4	A	T	2: 155,910,364 (GRCm39)	H330L	possibly damaging	Het
Spef2	G	A	15: 9,717,584 (GRCm39)	R254*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Usp16	A	G	16: 87,277,781 (GRCm39)	Y677C	probably damaging	Het
Vmn2r71	T	A	7: 85,264,748 (GRCm39)	W27R	possibly damaging	Het
Vwa5a	T	C	9: 38,646,167 (GRCm39)		probably benign	Het
Zfp935	A	G	13: 62,604,792 (GRCm39)	Y29H	probably damaging	Het

Other mutations in Gmfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00647:Gmfb	APN	14	47,054,838 (GRCm39)	splice site	probably null
R0076:Gmfb	UTSW	14	47,054,912 (GRCm39)	missense	probably benign	0.00
R0076:Gmfb	UTSW	14	47,054,912 (GRCm39)	missense	probably benign	0.00
R0409:Gmfb	UTSW	14	47,053,679 (GRCm39)	missense	probably benign	0.02
R1618:Gmfb	UTSW	14	47,049,237 (GRCm39)	nonsense	probably null
R7262:Gmfb	UTSW	14	47,052,386 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16