Mutagenetix > Incidental Mutation

Incidental Mutation 'R8815:Fes'

672664

Institutional Source

Beutler Lab

Gene Symbol

Fes

Ensembl Gene

ENSMUSG00000053158

Gene Name

feline sarcoma oncogene

Synonyms

c-fes

MMRRC Submission

068650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8815 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80027504-80037694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80033619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 211 (S211P)

Ref Sequence

ENSEMBL: ENSMUSP00000079733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080932] [ENSMUST00000205617] [ENSMUST00000206479] [ENSMUST00000206539] [ENSMUST00000206698] [ENSMUST00000206728] [ENSMUST00000206735] [ENSMUST00000206744]

AlphaFold

P16879

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080932
AA Change: S211P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158
AA Change: S211P

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 damaging
Transcript: ENSMUST00000205617
AA Change: S211P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206479

Predicted Effect

probably benign
Transcript: ENSMUST00000206539

Predicted Effect

probably benign
Transcript: ENSMUST00000206698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206728
AA Change: S211P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206735

Predicted Effect

probably benign
Transcript: ENSMUST00000206744

Meta Mutation Damage Score

0.0963

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (70/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,421,943 (GRCm39)	Q106H	probably damaging	Het
Acad9	T	C	3: 36,139,590 (GRCm39)	C397R	probably damaging	Het
Ankfn1	T	G	11: 89,282,602 (GRCm39)	R348S	probably damaging	Het
Ankrd61	A	G	5: 143,831,336 (GRCm39)	C28R	probably benign	Het
Ano5	C	T	7: 51,194,548 (GRCm39)	R94*	probably null	Het
Apela	A	T	8: 65,489,590 (GRCm39)	F10I	unknown	Het
Arhgap31	T	C	16: 38,429,790 (GRCm39)	S362G	probably benign	Het
Arhgef18	C	A	8: 3,430,410 (GRCm39)	H94Q	probably benign	Het
Astn2	A	T	4: 65,830,834 (GRCm39)	L585Q	possibly damaging	Het
Atf3	G	T	1: 190,909,564 (GRCm39)	A35D	probably benign	Het
Atp10b	A	T	11: 43,093,978 (GRCm39)	R507S	possibly damaging	Het
Brip1	A	C	11: 86,080,598 (GRCm39)	V156G	probably benign	Het
Ccdc27	T	A	4: 154,111,205 (GRCm39)	M636L	probably benign	Het
Ceacam5	T	A	7: 17,493,285 (GRCm39)	N769K	possibly damaging	Het
Cklf	C	T	8: 104,977,560 (GRCm39)		probably benign	Het
Cpeb4	G	A	11: 31,870,546 (GRCm39)	V474M	probably damaging	Het
Dip2c	T	A	13: 9,673,834 (GRCm39)	C1091*	probably null	Het
Eef1akmt4	T	A	16: 20,437,288 (GRCm39)	I210N	possibly damaging	Het
Fbxo38	A	T	18: 62,666,587 (GRCm39)	H195Q	probably damaging	Het
Fbxw14	G	A	9: 109,105,305 (GRCm39)	R287*	probably null	Het
Fry	G	T	5: 150,317,603 (GRCm39)	R861L	possibly damaging	Het
Galnt12	A	G	4: 47,113,908 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,538 (GRCm39)	W165*	probably null	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprc6a	A	G	10: 51,497,079 (GRCm39)	V488A	probably benign	Het
Haus8	A	T	8: 71,705,910 (GRCm39)		probably benign	Het
Helb	A	T	10: 119,948,692 (GRCm39)	C26S	possibly damaging	Het
Icam1	A	T	9: 20,937,862 (GRCm39)	I300F	probably benign	Het
Ip6k1	A	G	9: 107,918,211 (GRCm39)	N181S	probably benign	Het
Itga2b	C	A	11: 102,351,687 (GRCm39)	R546L	possibly damaging	Het
Kif27	A	T	13: 58,476,818 (GRCm39)	Y611N	probably damaging	Het
Lpcat2	A	G	8: 93,640,979 (GRCm39)	I475V	possibly damaging	Het
Lrit2	A	G	14: 36,794,487 (GRCm39)	K517R	probably benign	Het
Lrp1b	A	T	2: 40,555,171 (GRCm39)	I4085N		Het
Lrrc32	T	A	7: 98,148,242 (GRCm39)	S341T	probably damaging	Het
Lrrn2	T	A	1: 132,866,831 (GRCm39)	I632K	possibly damaging	Het
Mettl22	A	G	16: 8,300,178 (GRCm39)	Q194R	probably benign	Het
Mfhas1	T	A	8: 36,057,394 (GRCm39)	V623E	probably damaging	Het
Mitd1	T	C	1: 37,929,315 (GRCm39)	D26G	probably damaging	Het
Myo1a	C	T	10: 127,546,043 (GRCm39)	T222M	probably benign	Het
Naf1	A	G	8: 67,317,333 (GRCm39)	K275R	possibly damaging	Het
Nf1	T	C	11: 79,332,491 (GRCm39)	L765P	probably damaging	Het
Or12k7	G	T	2: 36,958,429 (GRCm39)	M37I	probably benign	Het
Or52a5	A	G	7: 103,427,063 (GRCm39)	L163P	possibly damaging	Het
Or5ac16	T	A	16: 59,022,264 (GRCm39)	H175L	possibly damaging	Het
Or9r3	T	A	10: 129,947,808 (GRCm39)	I284F	probably damaging	Het
Pappa	A	G	4: 65,099,347 (GRCm39)	H622R	probably benign	Het
Pcdhb4	A	T	18: 37,442,055 (GRCm39)	Y455F	probably damaging	Het
Pepd	A	G	7: 34,671,116 (GRCm39)	Y220C	probably damaging	Het
Pias3	T	C	3: 96,607,381 (GRCm39)	I172T	probably damaging	Het
Polq	T	A	16: 36,853,893 (GRCm39)	H415Q	probably damaging	Het
Pp2d1	A	T	17: 53,814,897 (GRCm39)	M609K	probably benign	Het
Ppm1m	G	A	9: 106,076,237 (GRCm39)		probably benign	Het
Prss22	T	A	17: 24,215,662 (GRCm39)	T87S	probably benign	Het
Ptprf	C	A	4: 118,095,125 (GRCm39)	V254L	possibly damaging	Het
Ripply3	A	G	16: 94,136,723 (GRCm39)	E128G	possibly damaging	Het
Rrm2	A	C	12: 24,760,470 (GRCm39)	I185L	possibly damaging	Het
Sbsn	T	A	7: 30,454,227 (GRCm39)		probably benign	Het
Sdc3	T	A	4: 130,546,336 (GRCm39)	S232T	probably benign	Het
Slx4	G	C	16: 3,803,458 (GRCm39)	P1119A	probably benign	Het
Smc5	C	T	19: 23,221,422 (GRCm39)	R369Q	probably damaging	Het
Speer4a3	A	G	5: 26,158,191 (GRCm39)	S54P	probably damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Sptbn4	G	A	7: 27,106,657 (GRCm39)	Q924*	probably null	Het
Srcap	G	C	7: 127,158,037 (GRCm39)	D2638H	unknown	Het
Srsf12	T	C	4: 33,226,045 (GRCm39)	S103P	possibly damaging	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Them4	C	T	3: 94,231,610 (GRCm39)	T149I	probably damaging	Het
Trpc7	T	C	13: 56,970,312 (GRCm39)	Y424C	possibly damaging	Het
Ttn	C	T	2: 76,628,364 (GRCm39)	D14599N	probably damaging	Het
Ttn	A	T	2: 76,698,244 (GRCm39)	L186H		Het
Usp17lc	T	C	7: 103,067,524 (GRCm39)	F273S	probably benign	Het
Vwa5b2	T	C	16: 20,419,516 (GRCm39)	S620P	probably 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
R1898:Fes	UTSW	7	80,029,659 (GRCm39)	missense	probably damaging	1.00
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
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'- TACTCTGGAACTAGGTCCCC -3'
(R):5'- GCCCTGAGCATGGGTATATG -3'

Sequencing Primer
(F):5'- TCTGGAACTAGGTCCCCAATAAATG -3'
(R):5'- ATGGGTATATGCGCGCC -3'

Posted On

2021-04-30