Mutagenetix > Incidental Mutation

Incidental Mutation 'R2182:Fntb'

237252

Institutional Source

Beutler Lab

Gene Symbol

Fntb

Ensembl Gene

ENSMUSG00000033373

Gene Name

farnesyltransferase, CAAX box, beta

Synonyms

2010013E13Rik

MMRRC Submission

040184-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2182 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76884014-76968188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76909309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 99 (N99S)

Ref Sequence

ENSEMBL: ENSMUSP00000120713 (fasta)

Gene Model

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

AlphaFold

Q8K2I1

Predicted Effect

probably benign
Transcript: ENSMUST00000041008
AA Change: N65S

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

SMART Domains

Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: N65S

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

silent
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: N99S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: N99S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,334,243 (GRCm39)	H17R	probably damaging	Het
Abca15	G	A	7: 119,939,450 (GRCm39)	W281*	probably null	Het
Aloxe3	G	A	11: 69,020,426 (GRCm39)	V157M	possibly damaging	Het
Arhgap26	G	T	18: 39,490,862 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,504,563 (GRCm39)	N698S	probably damaging	Het
Clec4a4	A	G	6: 122,990,716 (GRCm39)		probably null	Het
Clgn	C	T	8: 84,137,039 (GRCm39)	T252I	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,571 (GRCm39)	N179Y	probably damaging	Het
D630045J12Rik	C	T	6: 38,151,082 (GRCm39)		probably null	Het
Dennd5a	G	T	7: 109,533,201 (GRCm39)	R190S	probably benign	Het
Dtx4	C	A	19: 12,460,471 (GRCm39)	G384V	probably null	Het
Dxo	T	C	17: 35,057,868 (GRCm39)	V191A	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Gm5773	T	A	3: 93,680,820 (GRCm39)	I164K	probably benign	Het
Golm2	A	G	2: 121,697,909 (GRCm39)	D75G	probably damaging	Het
Hyal5	T	C	6: 24,877,879 (GRCm39)	I325T	probably damaging	Het
Igsf8	G	A	1: 172,118,295 (GRCm39)		probably null	Het
Lamc2	A	G	1: 153,002,612 (GRCm39)	V17A	possibly damaging	Het
Lpxn	T	C	19: 12,810,122 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,386,464 (GRCm39)	V1296A	probably damaging	Het
Mpdz	A	T	4: 81,266,959 (GRCm39)	L318Q	probably damaging	Het
Mpl	T	A	4: 118,314,610 (GRCm39)	Q13L	probably benign	Het
Mpnd	A	G	17: 56,322,964 (GRCm39)	S399G	probably benign	Het
Mrps5	T	C	2: 127,444,407 (GRCm39)	L347P	probably damaging	Het
Naip1	T	A	13: 100,550,188 (GRCm39)	Q1217H	probably benign	Het
Nav2	G	A	7: 49,247,002 (GRCm39)	V2176I	probably benign	Het
Obi1	A	G	14: 104,743,612 (GRCm39)	S156P	possibly damaging	Het
Or13p3	T	C	4: 118,567,542 (GRCm39)	*313R	probably null	Het
Or7g33	T	C	9: 19,448,638 (GRCm39)	N196S	probably benign	Het
Or8b43	A	G	9: 38,360,420 (GRCm39)	N84S	probably benign	Het
Or8g36	A	T	9: 39,422,722 (GRCm39)	M98K	probably damaging	Het
Pbx2	C	A	17: 34,814,640 (GRCm39)	Y324*	probably null	Het
Pcsk7	T	A	9: 45,839,917 (GRCm39)	C702S	probably benign	Het
Pramel11	T	A	4: 143,623,760 (GRCm39)	H138L	possibly damaging	Het
Rictor	T	C	15: 6,801,685 (GRCm39)	S458P	probably damaging	Het
Scaf4	T	C	16: 90,027,028 (GRCm39)	M905V	probably benign	Het
Scarf2	T	C	16: 17,620,886 (GRCm39)	C185R	probably damaging	Het
Scd1	T	G	19: 44,391,732 (GRCm39)	I101L	probably benign	Het
Slc6a2	A	G	8: 93,687,876 (GRCm39)	M1V	probably null	Het
Sost	T	C	11: 101,854,676 (GRCm39)	Y211C	probably damaging	Het
Sphkap	A	G	1: 83,254,405 (GRCm39)	S828P	probably damaging	Het
Tnn	T	C	1: 159,968,170 (GRCm39)		probably null	Het
Tnrc18	T	C	5: 142,745,816 (GRCm39)	K1319R	unknown	Het
Vmn2r60	A	G	7: 41,844,931 (GRCm39)	T765A	probably benign	Het
Vmn2r91	C	A	17: 18,325,691 (GRCm39)	T103K	possibly damaging	Het
Zbtb44	T	C	9: 30,977,972 (GRCm39)	C429R	possibly damaging	Het
Zc3h4	G	A	7: 16,156,441 (GRCm39)	G327D	unknown	Het
Zfp292	A	G	4: 34,807,417 (GRCm39)	C1876R	probably damaging	Het
Zfp839	C	T	12: 110,834,772 (GRCm39)	L676F	probably damaging	Het
Zg16	A	G	7: 126,649,544 (GRCm39)	L139P	probably damaging	Het
Zscan12	A	G	13: 21,552,961 (GRCm39)	I262V	probably benign	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
R0410:Fntb	UTSW	12	76,934,826 (GRCm39)	missense	probably benign	0.00
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
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'- CTCTGAATCTCTGTGCAGCAC -3'
(R):5'- AGATGGTTCACATGCTGGCTC -3'

Sequencing Primer
(F):5'- CAGAACTGTGCTGAGAAACTTC -3'
(R):5'- GACATGAGTTTGGTTTCCAGCACC -3'

Posted On

2014-10-02