Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02691:Gmfg'

303746

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 #

IGL02691

Quality Score

Status

Chromosome

Chromosomal Location

28136894-28147655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28144295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 40 (Y40C)

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 damaging
Transcript: ENSMUST00000078845
AA Change: Y73C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077889
Gene: ENSMUSG00000060791
AA Change: Y73C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108289
AA Change: Y32C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103924
Gene: ENSMUSG00000060791
AA Change: Y32C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108292
AA Change: Y73C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103927
Gene: ENSMUSG00000060791
AA Change: Y73C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135686
AA Change: Y40C

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119321
Gene: ENSMUSG00000060791
AA Change: Y40C

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,655,457 (GRCm39)	S40P	probably benign	Het
Actl9	G	T	17: 33,652,092 (GRCm39)	V51L	probably damaging	Het
Adcy6	A	T	15: 98,502,185 (GRCm39)	F143Y	probably damaging	Het
Agps	A	T	2: 75,722,204 (GRCm39)	I465F	probably benign	Het
Armc3	T	A	2: 19,240,295 (GRCm39)	F17L	probably damaging	Het
Arsk	A	C	13: 76,223,069 (GRCm39)	M176R	probably damaging	Het
Asz1	G	A	6: 18,076,556 (GRCm39)	T212I	probably damaging	Het
Atp6v1a	A	G	16: 43,931,982 (GRCm39)	I102T	probably damaging	Het
Bpifb6	T	A	2: 153,744,565 (GRCm39)	L2Q	unknown	Het
Cad	A	G	5: 31,212,638 (GRCm39)	Y45C	probably damaging	Het
Ccdc93	A	G	1: 121,414,342 (GRCm39)	D451G	possibly damaging	Het
Cenpj	A	G	14: 56,789,547 (GRCm39)	I834T	probably benign	Het
Cyp2j12	C	T	4: 96,021,231 (GRCm39)		probably null	Het
Dhx8	G	A	11: 101,642,830 (GRCm39)		probably benign	Het
Dync1i1	A	G	6: 5,800,767 (GRCm39)		probably benign	Het
Ell2	T	A	13: 75,904,605 (GRCm39)	D99E	probably damaging	Het
Enpp1	G	T	10: 24,587,790 (GRCm39)	P34T	probably damaging	Het
Fras1	T	A	5: 96,892,564 (GRCm39)	V2888E	possibly damaging	Het
Gnal	T	C	18: 67,355,746 (GRCm39)	I369T	probably damaging	Het
Gzmn	T	C	14: 56,404,370 (GRCm39)	T156A	probably benign	Het
H2-DMb2	A	T	17: 34,366,832 (GRCm39)	H88L	probably benign	Het
Ighv7-3	T	C	12: 114,117,016 (GRCm39)	T49A	probably benign	Het
Jakmip3	C	T	7: 138,628,573 (GRCm39)	Q450*	probably null	Het
Klhl20	A	T	1: 160,934,444 (GRCm39)		probably benign	Het
Klk6	A	G	7: 43,477,924 (GRCm39)	T99A	probably benign	Het
Lhx3	A	G	2: 26,093,097 (GRCm39)	C118R	probably damaging	Het
Mapkbp1	T	C	2: 119,803,655 (GRCm39)		probably benign	Het
Naa15	A	G	3: 51,358,747 (GRCm39)	E294G	probably damaging	Het
Nfia	C	T	4: 97,970,045 (GRCm39)	Q373*	probably null	Het
Notch2	C	A	3: 98,042,923 (GRCm39)	Y1429*	probably null	Het
Oc90	A	G	15: 65,754,410 (GRCm39)	S252P	probably damaging	Het
Or56a3b	A	G	7: 104,771,338 (GRCm39)	I225V	probably damaging	Het
Or8k37	T	C	2: 86,469,182 (GRCm39)	Y290C	probably damaging	Het
Pde3b	T	A	7: 114,107,320 (GRCm39)		probably benign	Het
Pdss1	G	A	2: 22,805,253 (GRCm39)	V211I	probably benign	Het
Phactr1	G	T	13: 43,231,213 (GRCm39)	M226I	probably benign	Het
Phf11c	A	G	14: 59,622,236 (GRCm39)	S259P	probably damaging	Het
Phf20l1	A	G	15: 66,476,713 (GRCm39)	N269S	probably damaging	Het
Piezo1	A	G	8: 123,228,688 (GRCm39)	V229A	possibly damaging	Het
Plcb2	T	C	2: 118,541,444 (GRCm39)	K997R	probably benign	Het
Ppm1m	A	T	9: 106,072,568 (GRCm39)	V449E	probably damaging	Het
Ppp1r36dn	T	C	12: 76,498,073 (GRCm39)		noncoding transcript	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rgs14	A	G	13: 55,526,836 (GRCm39)		probably null	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Scamp5	G	T	9: 57,358,660 (GRCm39)	R39S	probably damaging	Het
Slc5a6	C	T	5: 31,199,518 (GRCm39)	V15I	probably damaging	Het
Snx25	A	T	8: 46,558,302 (GRCm39)	V235E	possibly damaging	Het
Tdrd1	G	T	19: 56,832,284 (GRCm39)	E400D	probably damaging	Het
Tln1	T	C	4: 43,539,544 (GRCm39)	R1593G	probably benign	Het
Trdv2-2	T	C	14: 54,199,039 (GRCm39)	F110L	possibly damaging	Het
Ush2a	A	C	1: 188,466,949 (GRCm39)	Y2871S	probably damaging	Het
Vars2	A	C	17: 35,971,140 (GRCm39)	L592R	probably damaging	Het
Vipr2	T	A	12: 116,099,849 (GRCm39)	C239S	probably benign	Het
Vmn1r200	A	T	13: 22,579,428 (GRCm39)	D68V	probably damaging	Het
Vmn1r7	A	T	6: 57,001,373 (GRCm39)	S296T	probably benign	Het
Vmn2r95	T	C	17: 18,672,120 (GRCm39)	I619T	probably benign	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
IGL01581:Gmfg	APN	7	28,142,646 (GRCm39)	missense	probably benign	0.03
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

2015-04-16