Mutagenetix > Incidental Mutation

Incidental Mutation 'R7532:Gfy'

583367

Institutional Source

Beutler Lab

Gene Symbol

Gfy

Ensembl Gene

ENSMUSG00000095276

Gene Name

golgi-associated olfactory signaling regulator

Synonyms

Goofy, Gm581

MMRRC Submission

045604-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7532 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44825773-44828993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44827461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 212 (P212S)

Ref Sequence

ENSEMBL: ENSMUSP00000147535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042754] [ENSMUST00000085374] [ENSMUST00000179443] [ENSMUST00000209634] [ENSMUST00000210086] [ENSMUST00000211004]

AlphaFold

J3KML8

Predicted Effect

probably benign
Transcript: ENSMUST00000042754

SMART Domains

Protein: ENSMUSP00000041047
Gene: ENSMUSG00000038300

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:TIP39	49	99	5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085374

SMART Domains

Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:MFS_1	68	453	9.3e-49	PFAM
transmembrane domain	468	490	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC
low complexity region	550	556	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179443
AA Change: P212S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276
AA Change: P212S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	58	77	N/A	INTRINSIC
low complexity region	142	161	N/A	INTRINSIC
SCOP:d1fftc1	399	431	5e-4	SMART
low complexity region	470	488	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209634

Predicted Effect

probably benign
Transcript: ENSMUST00000210086

Predicted Effect

probably damaging
Transcript: ENSMUST00000211004
AA Change: P212S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display short olfactory epithelium (OE) cilia, reduced odorant induced local field potentials in the OE and impaired olfaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,220,589 (GRCm39)	I174K	probably damaging	Het
Ano2	A	T	6: 125,940,667 (GRCm39)	I597F	probably damaging	Het
Ap1g1	T	C	8: 110,586,796 (GRCm39)	V813A	probably damaging	Het
Bpnt1	A	T	1: 185,084,523 (GRCm39)	I207F	possibly damaging	Het
Brinp3	T	A	1: 146,777,139 (GRCm39)	W529R	probably damaging	Het
C2cd2l	C	T	9: 44,226,681 (GRCm39)	R355Q	probably benign	Het
Ccser1	T	A	6: 62,356,915 (GRCm39)	C784*	probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Chd9	A	G	8: 91,721,193 (GRCm39)	I994V	unknown	Het
Cst13	T	G	2: 148,665,127 (GRCm39)	Y41D	probably benign	Het
Cyth2	C	T	7: 45,457,448 (GRCm39)	A342T	probably benign	Het
Dapk1	T	C	13: 60,878,700 (GRCm39)	L563P	probably damaging	Het
Dclk3	T	G	9: 111,296,596 (GRCm39)	S47A	probably benign	Het
Dync1h1	C	A	12: 110,618,011 (GRCm39)	N3183K	probably benign	Het
Enpp1	C	T	10: 24,551,885 (GRCm39)	V165M	probably benign	Het
Ephx3	T	C	17: 32,407,763 (GRCm39)	N173S	possibly damaging	Het
Erc1	T	A	6: 119,756,592 (GRCm39)	D388V	probably benign	Het
Esp34	T	G	17: 38,870,511 (GRCm39)	V135G	possibly damaging	Het
Gm5239	C	T	18: 35,669,795 (GRCm39)	R54C	probably benign	Het
Gtpbp3	T	C	8: 71,942,107 (GRCm39)	F113L	probably benign	Het
Hectd1	T	A	12: 51,837,233 (GRCm39)	D775V	probably damaging	Het
Ifrd2	T	G	9: 107,469,721 (GRCm39)	S431R	probably damaging	Het
Impg2	G	A	16: 56,087,543 (GRCm39)	A1121T	probably damaging	Het
Irx1	A	G	13: 72,108,314 (GRCm39)	F123L	possibly damaging	Het
Itgb6	C	T	2: 60,499,557 (GRCm39)	V79I	probably benign	Het
Kcnd3	G	A	3: 105,575,526 (GRCm39)	R550H	probably damaging	Het
Klhl9	A	T	4: 88,639,090 (GRCm39)	S384T	possibly damaging	Het
Kng2	T	C	16: 22,845,794 (GRCm39)		probably null	Het
Lipo3	T	C	19: 33,560,464 (GRCm39)	N67S	possibly damaging	Het
Mgst1	T	C	6: 138,130,504 (GRCm39)	S78P	probably benign	Het
Ms4a14	A	G	19: 11,281,323 (GRCm39)	Y412H	possibly damaging	Het
Mucl2	A	C	15: 103,926,318 (GRCm39)	I124S	unknown	Het
Myh3	A	G	11: 66,981,921 (GRCm39)	M806V	probably benign	Het
Nelfcd	T	C	2: 174,268,189 (GRCm39)	L501P	probably damaging	Het
Nlrp6	C	A	7: 140,505,097 (GRCm39)	P748Q	probably benign	Het
Or1j13	C	T	2: 36,370,138 (GRCm39)	M1I	probably null	Het
Or6n2	T	C	1: 173,897,664 (GRCm39)	S267P	probably benign	Het
Plxna2	G	A	1: 194,327,127 (GRCm39)	A354T	probably benign	Het
Prpf39	G	T	12: 65,100,145 (GRCm39)	V273L	probably benign	Het
Rad9a	T	C	19: 4,251,522 (GRCm39)		probably benign	Het
Rnf135	A	G	11: 80,089,732 (GRCm39)	D356G	probably benign	Het
Rragd	G	T	4: 33,004,166 (GRCm39)	A153S	possibly damaging	Het
Selenot	G	T	3: 58,492,653 (GRCm39)	V47L	probably benign	Het
Smc2	T	C	4: 52,451,013 (GRCm39)	L277P	probably damaging	Het
Sp7	A	G	15: 102,267,584 (GRCm39)	F92S	possibly damaging	Het
Spata1	A	T	3: 146,173,946 (GRCm39)	I380N	possibly damaging	Het
Spdye4b	G	T	5: 143,180,652 (GRCm39)	R39S	possibly damaging	Het
Spmip9	T	C	6: 70,890,621 (GRCm39)	K57R	probably benign	Het
Stom	C	A	2: 35,211,589 (GRCm39)	R144L	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,486 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,249,565 (GRCm39)	T998A	probably benign	Het
Vcl	C	A	14: 21,079,392 (GRCm39)	A965D	probably damaging	Het
Vmn1r69	A	T	7: 10,314,281 (GRCm39)	V150D	probably damaging	Het
Vmn1r90	T	G	7: 14,295,189 (GRCm39)	N303T	possibly damaging	Het
Vmn2r69	A	T	7: 85,059,622 (GRCm39)	M429K	probably benign	Het
Vmn2r8	T	A	5: 108,950,106 (GRCm39)	Y247F	probably benign	Het
Washc5	A	T	15: 59,239,260 (GRCm39)	S168T	possibly damaging	Het

Other mutations in Gfy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1696:Gfy	UTSW	7	44,827,470 (GRCm39)	missense	possibly damaging	0.94
R4348:Gfy	UTSW	7	44,827,040 (GRCm39)	missense	probably benign
R4350:Gfy	UTSW	7	44,827,040 (GRCm39)	missense	probably benign
R4351:Gfy	UTSW	7	44,827,040 (GRCm39)	missense	probably benign
R4352:Gfy	UTSW	7	44,827,040 (GRCm39)	missense	probably benign
R4604:Gfy	UTSW	7	44,826,612 (GRCm39)	missense	possibly damaging	0.76
R4847:Gfy	UTSW	7	44,827,020 (GRCm39)	missense	probably damaging	0.99
R5211:Gfy	UTSW	7	44,827,282 (GRCm39)	missense	possibly damaging	0.53
R5480:Gfy	UTSW	7	44,826,657 (GRCm39)	missense	probably benign	0.36
R5873:Gfy	UTSW	7	44,827,004 (GRCm39)	missense	probably damaging	0.99
R5906:Gfy	UTSW	7	44,827,167 (GRCm39)	missense	probably benign	0.02
R6819:Gfy	UTSW	7	44,826,975 (GRCm39)	missense	possibly damaging	0.46
R7202:Gfy	UTSW	7	44,827,596 (GRCm39)	missense	probably benign	0.04
R7493:Gfy	UTSW	7	44,827,518 (GRCm39)	missense	probably benign
R7575:Gfy	UTSW	7	44,827,524 (GRCm39)	missense	probably benign
R7586:Gfy	UTSW	7	44,826,962 (GRCm39)	missense	probably damaging	0.96
R8247:Gfy	UTSW	7	44,827,710 (GRCm39)	missense	possibly damaging	0.94
R8343:Gfy	UTSW	7	44,826,019 (GRCm39)	missense	probably damaging	0.99
R8880:Gfy	UTSW	7	44,827,784 (GRCm39)	missense	possibly damaging	0.80
R9464:Gfy	UTSW	7	44,827,251 (GRCm39)	missense	probably benign	0.04
R9510:Gfy	UTSW	7	44,828,090 (GRCm39)	missense	possibly damaging	0.82
R9629:Gfy	UTSW	7	44,827,785 (GRCm39)	missense	probably benign	0.36
Z1177:Gfy	UTSW	7	44,825,888 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCTAGCCGTTTCTGTTAC -3'
(R):5'- GGAATTTCCCCGTCTGACTC -3'

Sequencing Primer
(F):5'- AGCCGTTTCTGTTACATTTTGGC -3'
(R):5'- CCGTCTGACTCTCCAGAAAC -3'

Posted On

2019-10-17