Mutagenetix > Incidental Mutation

Incidental Mutation 'R5348:Gmfg'

422734

Institutional Source

Beutler Lab

Gene Symbol

Gmfg

Ensembl Gene

ENSMUSG00000060791

Gene Name

glia maturation factor, gamma

Synonyms

2310057N07Rik, 0610039G16Rik

MMRRC Submission

042927-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28136894-28147655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28145819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000103924 (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: D127G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000077889
Gene: ENSMUSG00000060791
AA Change: D127G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108289
AA Change: D86G

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103924
Gene: ENSMUSG00000060791
AA Change: D86G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108292
AA Change: D127G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103927
Gene: ENSMUSG00000060791
AA Change: D127G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000135686

SMART Domains

Protein: ENSMUSP00000119321
Gene: ENSMUSG00000060791

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138741

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,978,634 (GRCm39)	C275S	possibly damaging	Het
Bltp1	A	G	3: 37,102,295 (GRCm39)	E1331G	probably damaging	Het
Cdk12	T	A	11: 98,095,118 (GRCm39)	S309T	probably benign	Het
Cep295nl	T	C	11: 118,224,425 (GRCm39)	R140G	probably damaging	Het
Chd8	A	G	14: 52,470,155 (GRCm39)	V485A	probably damaging	Het
Chn2	A	G	6: 54,277,203 (GRCm39)	I279V	probably damaging	Het
Cux2	A	G	5: 122,004,041 (GRCm39)	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,692,628 (GRCm39)	M44K	probably damaging	Het
Dpyd	T	A	3: 118,575,592 (GRCm39)	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934 (GRCm39)	W268R	probably damaging	Het
Gpd1	T	C	15: 99,620,021 (GRCm39)	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393 (GRCm39)	I158T	probably damaging	Het
Itpr2	A	G	6: 146,378,191 (GRCm39)	F53L	possibly damaging	Het
Kctd21	A	G	7: 96,997,177 (GRCm39)	I217V	probably benign	Het
Lrfn2	A	G	17: 49,403,718 (GRCm39)	T614A	probably benign	Het
Lrrc7	T	A	3: 157,880,963 (GRCm39)	D491V	probably benign	Het
Myo7b	T	C	18: 32,116,972 (GRCm39)	E916G	probably damaging	Het
Nf1	C	T	11: 79,455,725 (GRCm39)	T550I	probably damaging	Het
Nsd1	A	G	13: 55,460,147 (GRCm39)	T2125A	probably benign	Het
Olfml2b	A	G	1: 170,489,995 (GRCm39)	E205G	probably benign	Het
Or8k37	A	T	2: 86,469,150 (GRCm39)	L301I	probably benign	Het
Papolb	T	C	5: 142,514,972 (GRCm39)	T224A	possibly damaging	Het
Pcnx2	T	C	8: 126,545,495 (GRCm39)	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,675,317 (GRCm39)	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,887,438 (GRCm39)	Y59*	probably null	Het
Pramel12	T	C	4: 143,143,351 (GRCm39)	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,652,346 (GRCm39)	S76R	probably benign	Het
Rnh1	A	T	7: 140,743,321 (GRCm39)	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Slc4a7	G	T	14: 14,786,310 (GRCm38)	V999L	probably benign	Het
Slco4c1	A	T	1: 96,770,254 (GRCm39)	I270N	probably damaging	Het
Tdp1	A	G	12: 99,881,765 (GRCm39)	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,483,534 (GRCm39)	S650G	probably benign	Het
Ttn	T	C	2: 76,608,638 (GRCm39)	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,674,439 (GRCm39)	T856A	probably benign	Het
Vps13d	C	T	4: 144,792,459 (GRCm39)	G3726E	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCTTGACAAACAAAGTAGGAG -3'
(R):5'- TGGAACTGTAGGGACTGTCC -3'

Sequencing Primer
(F):5'- AGGGTGACTCCTGGGTTTCTAGTAG -3'
(R):5'- GAGGCTCAGATTTTGCAGATACC -3'

Posted On

2016-08-04