Mutagenetix > Incidental Mutation

Incidental Mutation 'R1686:Fgf12'

189380

Institutional Source

Beutler Lab

Gene Symbol

Fgf12

Ensembl Gene

ENSMUSG00000022523

Gene Name

fibroblast growth factor 12

Synonyms

Fhf1

MMRRC Submission

039719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27978850-28571820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28217093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 21 (Y21D)

Ref Sequence

ENSEMBL: ENSMUSP00000155924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100024] [ENSMUST00000231399] [ENSMUST00000231717] [ENSMUST00000232352]

AlphaFold

P61329

Predicted Effect

probably damaging
Transcript: ENSMUST00000100024
AA Change: Y83D

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

SMART Domains

Protein: ENSMUSP00000097601
Gene: ENSMUSG00000022523
AA Change: Y83D

Domain	Start	End	E-Value	Type
FGF	71	202	1.22e-62	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000231399
AA Change: Y47D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231717
AA Change: Y83D

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232352
AA Change: Y21D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.8417

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and do not exhibit any significant behavioral or neurological phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	G	A	10: 100,448,722 (GRCm39)	V400I	probably damaging	Het
Abcb1b	A	G	5: 8,848,782 (GRCm39)	N14S	probably damaging	Het
Adamts14	A	G	10: 61,034,439 (GRCm39)	Y1150H	probably benign	Het
Adgrg3	A	G	8: 95,759,997 (GRCm39)	N72S	probably benign	Het
Akain1	T	A	17: 69,746,527 (GRCm39)	F3I	possibly damaging	Het
Akr1c21	T	C	13: 4,627,452 (GRCm39)	L182P	probably damaging	Het
Arhgap21	A	T	2: 20,886,659 (GRCm39)	Y12N	probably damaging	Het
Aup1	A	T	6: 83,032,226 (GRCm39)	H131L	probably damaging	Het
Bag6	A	G	17: 35,363,928 (GRCm39)	T812A	possibly damaging	Het
Bmp2k	A	G	5: 97,211,392 (GRCm39)	Y520C	unknown	Het
Calm4	T	G	13: 3,888,302 (GRCm39)	V136G	probably damaging	Het
Catsper2	A	G	2: 121,230,523 (GRCm39)		probably null	Het
Cc2d2a	A	G	5: 43,896,713 (GRCm39)	T1537A	possibly damaging	Het
Cntn2	A	T	1: 132,454,049 (GRCm39)	V319D	possibly damaging	Het
Cux1	G	A	5: 136,304,235 (GRCm39)	R1314*	probably null	Het
Cxcl12	A	G	6: 117,150,508 (GRCm39)	I79V	probably damaging	Het
Cyp2j6	T	C	4: 96,412,014 (GRCm39)	D418G	probably benign	Het
Ddx28	G	C	8: 106,737,190 (GRCm39)	D289E	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	A	C	1: 24,068,887 (GRCm39)	S448A	probably benign	Het
Fbxo33	G	T	12: 59,251,626 (GRCm39)	N30K	possibly damaging	Het
Galntl5	C	T	5: 25,415,432 (GRCm39)	S288L	probably benign	Het
Gart	G	T	16: 91,422,237 (GRCm39)	A760D	probably damaging	Het
Gba2	A	T	4: 43,573,869 (GRCm39)		probably benign	Het
Gm10518	C	A	1: 179,631,357 (GRCm39)	S139*	probably null	Het
Gm4781	A	T	10: 100,232,837 (GRCm39)		noncoding transcript	Het
Gm9790	A	G	3: 85,823,156 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,893,075 (GRCm39)	G127R	probably damaging	Het
Golim4	A	T	3: 75,802,443 (GRCm39)	V283E	probably benign	Het
Gprc5a	A	T	6: 135,055,918 (GRCm39)	I122F	possibly damaging	Het
Gzmc	T	C	14: 56,471,341 (GRCm39)	K67E	probably benign	Het
Hapln3	C	A	7: 78,771,638 (GRCm39)	V84L	probably benign	Het
Hif3a	T	A	7: 16,778,789 (GRCm39)	N377Y	possibly damaging	Het
Ifi211	G	A	1: 173,726,969 (GRCm39)	H392Y	probably damaging	Het
Iqgap3	T	A	3: 88,015,663 (GRCm39)		probably benign	Het
Itga10	T	A	3: 96,559,141 (GRCm39)	F410Y	probably damaging	Het
Jup	T	C	11: 100,263,260 (GRCm39)	Y705C	probably damaging	Het
Khsrp	C	T	17: 57,332,597 (GRCm39)	A228T	probably benign	Het
Lmntd2	C	T	7: 140,790,998 (GRCm39)	G445D	probably damaging	Het
Lyst	T	C	13: 13,809,290 (GRCm39)	V320A	possibly damaging	Het
Magel2	T	A	7: 62,027,988 (GRCm39)	H297Q	possibly damaging	Het
Mbd6	T	C	10: 127,123,286 (GRCm39)	E33G	probably damaging	Het
Mob3b	A	G	4: 34,985,910 (GRCm39)		probably benign	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mymk	A	T	2: 26,952,346 (GRCm39)	W174R	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nipal3	T	C	4: 135,174,599 (GRCm39)	Y384C	possibly damaging	Het
Nt5c3b	A	G	11: 100,330,920 (GRCm39)		probably benign	Het
Obox6	T	A	7: 15,567,750 (GRCm39)	L232F	probably damaging	Het
Obscn	A	C	11: 58,997,113 (GRCm39)		probably benign	Het
Or7g12	T	C	9: 18,899,839 (GRCm39)	L185P	probably damaging	Het
Phkb	A	G	8: 86,748,278 (GRCm39)	I706V	probably benign	Het
Plcb2	A	G	2: 118,546,168 (GRCm39)		probably benign	Het
Plek2	T	C	12: 78,941,184 (GRCm39)	D216G	probably damaging	Het
Plxnb2	T	C	15: 89,046,665 (GRCm39)	Y855C	probably damaging	Het
Prkcz	T	C	4: 155,355,713 (GRCm39)	T227A	probably damaging	Het
Psma7	A	T	2: 179,679,215 (GRCm39)	D184E	probably benign	Het
Rai14	T	A	15: 10,592,282 (GRCm39)	L204F	probably damaging	Het
Ralgapa2	A	G	2: 146,199,920 (GRCm39)	V1208A	probably benign	Het
Rapgef6	A	G	11: 54,582,458 (GRCm39)	R67G	possibly damaging	Het
Ryr2	C	T	13: 11,618,665 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,047,027 (GRCm39)	S763G	probably benign	Het
Sdk1	A	T	5: 142,020,292 (GRCm39)	H690L	probably benign	Het
Sfrp5	A	C	19: 42,190,143 (GRCm39)	V103G	possibly damaging	Het
Six6	A	G	12: 72,988,451 (GRCm39)	E208G	probably benign	Het
Sspo	A	T	6: 48,437,334 (GRCm39)	H1364L	probably benign	Het
Stard9	A	T	2: 120,529,973 (GRCm39)	T2077S	probably benign	Het
Tacr3	T	C	3: 134,535,254 (GRCm39)	L74P	probably damaging	Het
Tep1	T	C	14: 51,074,245 (GRCm39)	E1880G	probably benign	Het
Tgfb3	A	T	12: 86,116,517 (GRCm39)		probably benign	Het
Thap7	G	A	16: 17,346,576 (GRCm39)	P136S	probably damaging	Het
Thoc2l	T	A	5: 104,667,789 (GRCm39)	Y770*	probably null	Het
Tmc2	T	C	2: 130,098,036 (GRCm39)	V717A	possibly damaging	Het
Usp43	T	A	11: 67,778,593 (GRCm39)	S446C	probably damaging	Het
Vwa3a	C	T	7: 120,379,371 (GRCm39)	S492L	probably damaging	Het
Wdhd1	T	A	14: 47,493,672 (GRCm39)	N16I	probably damaging	Het
Wdr95	A	T	5: 149,516,566 (GRCm39)	D327V	probably damaging	Het
Zfp128	T	G	7: 12,624,563 (GRCm39)	Y310*	probably null	Het

Other mutations in Fgf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01822:Fgf12	APN	16	28,008,351 (GRCm39)	missense	possibly damaging	0.86
R0420:Fgf12	UTSW	16	27,981,281 (GRCm39)	missense	possibly damaging	0.77
R0519:Fgf12	UTSW	16	28,008,380 (GRCm39)	missense	probably benign	0.34
R0968:Fgf12	UTSW	16	27,981,185 (GRCm39)	missense	probably null	0.00
R1216:Fgf12	UTSW	16	27,981,202 (GRCm39)	missense	possibly damaging	0.51
R2263:Fgf12	UTSW	16	28,008,363 (GRCm39)	nonsense	probably null
R5885:Fgf12	UTSW	16	28,217,046 (GRCm39)	missense	possibly damaging	0.93
R7170:Fgf12	UTSW	16	28,263,931 (GRCm39)	missense	probably benign	0.13
R8856:Fgf12	UTSW	16	28,008,233 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGACATCTTTCAAGGCTCCTACC -3'
(R):5'- ATGGCTCTGCCTCTAGGAAGGAGAAG -3'

Sequencing Primer
(F):5'- GAGTGCATAGCCTCTCTGATATAG -3'
(R):5'- GAGCACAGCTATTACACTAAACTG -3'

Posted On

2014-05-14