Mutagenetix > Incidental Mutation

Incidental Mutation 'R0410:Fntb'

36611

Institutional Source

Beutler Lab

Gene Symbol

Fntb

Ensembl Gene

ENSMUSG00000033373

Gene Name

farnesyltransferase, CAAX box, beta

Synonyms

2010013E13Rik

MMRRC Submission

038612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76884014-76968188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76934826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 201 (V201A)

Ref Sequence

ENSEMBL: ENSMUSP00000035498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041008] [ENSMUST00000125842] [ENSMUST00000137826]

AlphaFold

Q8K2I1

PDB Structure

Crystal structure of FTase(ALPHA-subunit; BETA-subunit DELTA C10) in complex with BMS3 and lipid substrate FPP [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000041008
AA Change: V201A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: V201A

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	124	164	8.2e-16	PFAM
Pfam:Prenyltrans_2	127	241	7.8e-20	PFAM
Pfam:Prenyltrans	172	215	1.2e-12	PFAM
Pfam:Prenyltrans	220	263	2.1e-14	PFAM
Pfam:Prenyltrans_2	226	350	1.4e-9	PFAM
Pfam:Prenyltrans	268	312	1.7e-12	PFAM
Pfam:Prenyltrans	330	374	1.2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123887

Predicted Effect

probably benign
Transcript: ENSMUST00000125842

SMART Domains

Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	65	2.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137826
AA Change: V235A

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

SMART Domains

Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: V235A

Domain	Start	End	E-Value	Type
Pfam:Churchill	1	92	1.9e-42	PFAM
Pfam:Prenyltrans	157	198	5.1e-16	PFAM
Pfam:Prenyltrans	206	249	2.8e-13	PFAM
Pfam:Prenyltrans	255	297	1e-14	PFAM
Pfam:Prenyltrans	302	346	1.6e-12	PFAM
Pfam:Prenyltrans	364	408	1.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154743

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality and loss epiblast-derived structures as a result of decreased cell proliferation and increased apoptosis. Cultured blastocysts corresponding to E7.5 embryos display a dramatic decrease in inner cell mass proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,268 (GRCm39)	D170G	probably benign	Het
Actrt3	C	T	3: 30,652,273 (GRCm39)	G274S	probably benign	Het
Adamts18	G	T	8: 114,440,990 (GRCm39)	C889*	probably null	Het
Alkbh6	C	T	7: 30,012,031 (GRCm39)	P104S	probably damaging	Het
Alms1	A	T	6: 85,564,785 (GRCm39)	E53V	unknown	Het
Ap3s1	T	C	18: 46,912,279 (GRCm39)	C100R	probably benign	Het
Apbb2	G	T	5: 66,609,149 (GRCm39)	A166E	possibly damaging	Het
Asph	A	G	4: 9,595,415 (GRCm39)	V174A	probably damaging	Het
Cacna2d2	T	C	9: 107,401,819 (GRCm39)	L758P	probably damaging	Het
Cacng5	A	G	11: 107,768,195 (GRCm39)	S271P	possibly damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Chn1	A	T	2: 73,462,094 (GRCm39)	C236*	probably null	Het
Coro1b	T	C	19: 4,199,362 (GRCm39)	V7A	probably damaging	Het
Dhx16	A	G	17: 36,201,859 (GRCm39)	Y962C	probably damaging	Het
Dixdc1	T	C	9: 50,596,153 (GRCm39)	D152G	probably damaging	Het
Dmrt1	T	C	19: 25,483,467 (GRCm39)	S84P	probably damaging	Het
Dnah10	A	G	5: 124,832,799 (GRCm39)	D844G	probably benign	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Efcab7	T	C	4: 99,735,487 (GRCm39)		probably null	Het
Fam83g	A	G	11: 61,594,218 (GRCm39)	D584G	probably damaging	Het
Fbxo7	T	A	10: 85,865,102 (GRCm39)		probably null	Het
Ffar1	T	C	7: 30,560,055 (GRCm39)	T281A	probably benign	Het
Gart	C	A	16: 91,438,215 (GRCm39)	A101S	probably damaging	Het
Gbp9	T	C	5: 105,232,939 (GRCm39)	T238A	probably benign	Het
Hectd4	T	C	5: 121,424,329 (GRCm39)	L663S	possibly damaging	Het
Helz2	A	T	2: 180,872,386 (GRCm39)	V2512E	probably damaging	Het
Hip1	A	C	5: 135,487,009 (GRCm39)	L66R	probably damaging	Het
Iigp1	T	A	18: 60,523,375 (GRCm39)	D164E	probably benign	Het
Kcnip3	A	G	2: 127,301,986 (GRCm39)	S193P	probably damaging	Het
Klra9	T	A	6: 130,165,707 (GRCm39)	T103S	probably benign	Het
Meis2	T	C	2: 115,694,709 (GRCm39)	*471W	probably null	Het
Minar1	T	G	9: 89,484,256 (GRCm39)	E380D	probably damaging	Het
Mrpl21	T	C	19: 3,334,792 (GRCm39)	S45P	possibly damaging	Het
Mterf1b	A	G	5: 4,246,488 (GRCm39)	E43G	probably benign	Het
Mycbp2	G	T	14: 103,372,569 (GRCm39)	S4092R	probably damaging	Het
Nfatc3	A	T	8: 106,822,828 (GRCm39)	N538I	probably damaging	Het
Nphp4	T	C	4: 152,641,503 (GRCm39)	C1095R	probably benign	Het
Npm2	T	A	14: 70,889,993 (GRCm39)	T13S	probably benign	Het
Or1m1	C	A	9: 18,666,137 (GRCm39)	V265F	probably damaging	Het
Or7e176	T	A	9: 20,171,797 (GRCm39)	F220L	probably benign	Het
Plcg2	A	T	8: 118,342,112 (GRCm39)	I1158F	probably damaging	Het
Popdc3	T	C	10: 45,193,829 (GRCm39)	V210A	possibly damaging	Het
Postn	T	C	3: 54,292,698 (GRCm39)	L755S	possibly damaging	Het
Prdx6b	T	C	2: 80,123,373 (GRCm39)	F61L	probably damaging	Het
Rars1	C	T	11: 35,716,847 (GRCm39)	R223H	probably damaging	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Scaf4	A	G	16: 90,057,058 (GRCm39)	Y98H	unknown	Het
Scn4a	A	G	11: 106,214,775 (GRCm39)	I1274T	probably damaging	Het
Senp2	G	T	16: 21,828,444 (GRCm39)	R18L	probably damaging	Het
Six5	T	A	7: 18,830,381 (GRCm39)	V336D	probably damaging	Het
Slc31a2	G	A	4: 62,210,890 (GRCm39)	E8K	probably benign	Het
Slc4a7	A	T	14: 14,738,299 (GRCm38)	T184S	probably damaging	Het
Slco2a1	T	A	9: 102,950,513 (GRCm39)		probably null	Het
Smr3a	T	G	5: 88,156,070 (GRCm39)		probably benign	Het
Sqor	T	C	2: 122,629,442 (GRCm39)	V100A	probably benign	Het
Srarp	T	C	4: 141,160,459 (GRCm39)	N125D	possibly damaging	Het
Stam	T	C	2: 14,143,802 (GRCm39)	V364A	probably benign	Het
Tgm5	T	C	2: 120,908,039 (GRCm39)	I46V	possibly damaging	Het
Tie1	A	T	4: 118,337,766 (GRCm39)	V443E	probably damaging	Het
Tipin	T	C	9: 64,195,397 (GRCm39)	M1T	probably null	Het
Tnc	T	C	4: 63,925,931 (GRCm39)	T950A	probably benign	Het
Tns3	T	C	11: 8,385,852 (GRCm39)	D1382G	probably benign	Het
Tor1aip1	A	G	1: 155,911,686 (GRCm39)	V99A	possibly damaging	Het
Trim16	C	T	11: 62,711,297 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,618,701 (GRCm39)	N14448K	possibly damaging	Het
Ttn	C	T	2: 76,717,204 (GRCm39)		probably benign	Het
Tut4	A	G	4: 108,343,752 (GRCm39)	R255G	probably benign	Het
Vmn1r23	A	G	6: 57,903,175 (GRCm39)	I201T	probably benign	Het
Vmn2r13	T	A	5: 109,321,679 (GRCm39)	K339N	probably benign	Het
Yap1	A	G	9: 8,001,468 (GRCm39)	Y173H	probably damaging	Het

Other mutations in Fntb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Fntb	APN	12	76,966,904 (GRCm39)	missense	probably benign
IGL01933:Fntb	APN	12	76,966,880 (GRCm39)	missense	probably benign	0.38
IGL02105:Fntb	APN	12	76,909,263 (GRCm39)	missense	probably benign	0.02
IGL02108:Fntb	APN	12	76,934,631 (GRCm39)	missense	possibly damaging	0.63
IGL02626:Fntb	APN	12	76,944,145 (GRCm39)	missense	probably benign	0.00
IGL03257:Fntb	APN	12	76,934,805 (GRCm39)	missense	probably damaging	1.00
R0938:Fntb	UTSW	12	76,963,214 (GRCm39)	missense	probably damaging	1.00
R1476:Fntb	UTSW	12	76,957,007 (GRCm39)	missense	probably benign	0.04
R2182:Fntb	UTSW	12	76,909,309 (GRCm39)	missense	probably benign	0.00
R5203:Fntb	UTSW	12	76,884,346 (GRCm39)	missense	probably benign	0.01
R6444:Fntb	UTSW	12	76,963,214 (GRCm39)	missense	probably damaging	1.00
R7060:Fntb	UTSW	12	76,934,649 (GRCm39)	missense	possibly damaging	0.89
R7890:Fntb	UTSW	12	76,920,224 (GRCm39)	critical splice donor site	probably null
R8852:Fntb	UTSW	12	76,934,826 (GRCm39)	missense	possibly damaging	0.62
R8860:Fntb	UTSW	12	76,934,826 (GRCm39)	missense	possibly damaging	0.62
R9064:Fntb	UTSW	12	76,934,640 (GRCm39)	missense	probably benign
R9756:Fntb	UTSW	12	76,966,938 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATCATCGGCACAGAGGAAGCCTAC -3'
(R):5'- TGACATTTGCATGAAAGGAGCCGAG -3'

Sequencing Primer
(F):5'- CGTCATTAACAGGTGAAGCTGC -3'
(R):5'- GCCGAGAGATAGTGATACCTAAG -3'

Posted On

2013-05-09