Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Fes'

212122

Institutional Source

Beutler Lab

Gene Symbol

Fes

Ensembl Gene

ENSMUSG00000053158

Gene Name

feline sarcoma oncogene

Synonyms

c-fes

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80027504-80037694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80029659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 608 (I608F)

Ref Sequence

ENSEMBL: ENSMUSP00000146041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206728] [ENSMUST00000206735] [ENSMUST00000206744]

AlphaFold

P16879

Predicted Effect

probably damaging
Transcript: ENSMUST00000080932
AA Change: I610F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: I610F

Domain	Start	End	E-Value	Type
FCH	1	94	2.22e-26	SMART
coiled coil region	133	165	N/A	INTRINSIC
coiled coil region	320	344	N/A	INTRINSIC
SH2	458	536	8.41e-26	SMART
TyrKc	561	814	1.57e-144	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206002

Predicted Effect

probably benign
Transcript: ENSMUST00000206479

Predicted Effect

probably benign
Transcript: ENSMUST00000206539

Predicted Effect

probably damaging
Transcript: ENSMUST00000206728
AA Change: I608F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206735

Predicted Effect

probably benign
Transcript: ENSMUST00000206744

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a null allele show partial in utero lethality, runting, altered hematopoietic homeostasis and macrophage function, skin lesions and susceptibility to bacterial infection. Homozygotes for another null allele show enhanced LPS sensitivity, altered hematopoiesis and larger litter size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Sct	A	T	7: 140,858,761 (GRCm39)	L57Q	probably damaging	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	possibly damaging	Het

Other mutations in Fes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Fes	APN	7	80,033,021 (GRCm39)	missense	probably benign	0.01
IGL01654:Fes	APN	7	80,036,558 (GRCm39)	critical splice donor site	probably null
IGL02350:Fes	APN	7	80,033,578 (GRCm39)	splice site	probably null
IGL02357:Fes	APN	7	80,033,578 (GRCm39)	splice site	probably null
IGL02811:Fes	APN	7	80,029,589 (GRCm39)	missense	probably damaging	1.00
BB009:Fes	UTSW	7	80,029,620 (GRCm39)	missense	probably damaging	0.99
BB019:Fes	UTSW	7	80,029,620 (GRCm39)	missense	probably damaging	0.99
R0112:Fes	UTSW	7	80,033,753 (GRCm39)	missense	probably damaging	0.99
R0114:Fes	UTSW	7	80,027,783 (GRCm39)	missense	probably damaging	0.99
R0143:Fes	UTSW	7	80,033,643 (GRCm39)	missense	probably benign	0.00
R0786:Fes	UTSW	7	80,036,668 (GRCm39)	missense	probably damaging	1.00
R0863:Fes	UTSW	7	80,030,634 (GRCm39)	missense	probably damaging	1.00
R0918:Fes	UTSW	7	80,030,953 (GRCm39)	missense	probably damaging	1.00
R1167:Fes	UTSW	7	80,032,857 (GRCm39)	missense	probably damaging	1.00
R1174:Fes	UTSW	7	80,027,699 (GRCm39)	missense	probably damaging	1.00
R1674:Fes	UTSW	7	80,027,686 (GRCm39)	missense	probably benign	0.04
R1908:Fes	UTSW	7	80,036,609 (GRCm39)	missense	probably damaging	0.98
R1909:Fes	UTSW	7	80,036,609 (GRCm39)	missense	probably damaging	0.98
R1922:Fes	UTSW	7	80,033,734 (GRCm39)	nonsense	probably null
R2209:Fes	UTSW	7	80,030,031 (GRCm39)	missense	probably damaging	1.00
R2242:Fes	UTSW	7	80,031,473 (GRCm39)	missense	probably damaging	1.00
R3012:Fes	UTSW	7	80,036,915 (GRCm39)	missense	possibly damaging	0.81
R4607:Fes	UTSW	7	80,036,959 (GRCm39)	missense	probably damaging	1.00
R4608:Fes	UTSW	7	80,036,959 (GRCm39)	missense	probably damaging	1.00
R4982:Fes	UTSW	7	80,036,952 (GRCm39)	missense	probably damaging	1.00
R5516:Fes	UTSW	7	80,036,931 (GRCm39)	missense	probably damaging	1.00
R6120:Fes	UTSW	7	80,030,615 (GRCm39)	missense	probably damaging	1.00
R6148:Fes	UTSW	7	80,030,044 (GRCm39)	missense	probably damaging	1.00
R7161:Fes	UTSW	7	80,030,609 (GRCm39)	missense	probably damaging	0.98
R7401:Fes	UTSW	7	80,028,524 (GRCm39)	critical splice donor site	probably null
R7408:Fes	UTSW	7	80,028,410 (GRCm39)	missense	probably damaging	1.00
R7761:Fes	UTSW	7	80,030,615 (GRCm39)	missense	probably damaging	1.00
R7932:Fes	UTSW	7	80,029,620 (GRCm39)	missense	probably damaging	0.99
R8261:Fes	UTSW	7	80,032,902 (GRCm39)	missense	probably null	1.00
R8815:Fes	UTSW	7	80,033,619 (GRCm39)	missense	possibly damaging	0.89
R8903:Fes	UTSW	7	80,036,559 (GRCm39)	unclassified	probably benign
R8936:Fes	UTSW	7	80,031,473 (GRCm39)	missense	probably damaging	1.00
R9012:Fes	UTSW	7	80,032,884 (GRCm39)	missense	possibly damaging	0.78
R9174:Fes	UTSW	7	80,030,631 (GRCm39)	missense	probably damaging	0.98
R9200:Fes	UTSW	7	80,032,140 (GRCm39)	missense	probably benign	0.00
R9679:Fes	UTSW	7	80,033,050 (GRCm39)	missense	probably benign	0.04
Z1177:Fes	UTSW	7	80,027,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGGTGAGAGCAGCCTTG -3'
(R):5'- TGGCATTTAGTTCTCCCAGTCG -3'

Sequencing Primer
(F):5'- TGAGAGCAGCCTTGAGCCTC -3'
(R):5'- GTCGTCTCATACCCGAGTAATAC -3'

Posted On

2014-06-30