Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Fes'

574169

Institutional Source

Beutler Lab

Gene Symbol

Fes

Ensembl Gene

ENSMUSG00000053158

Gene Name

feline sarcoma oncogene

Synonyms

c-fes

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80377756-80387946 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 80378776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079733 (fasta)

Gene Model

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

AlphaFold

P16879

Predicted Effect

probably null
Transcript: ENSMUST00000080932

SMART Domains

Protein: ENSMUSP00000079733
Gene: ENSMUSG00000053158

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

probably benign
Transcript: ENSMUST00000206479

Predicted Effect

probably null
Transcript: ENSMUST00000206728

Predicted Effect

probably null
Transcript: ENSMUST00000206735

Predicted Effect

probably benign
Transcript: ENSMUST00000206744

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,302,230	E988G	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	possibly damaging	Het

Other mutations in Fes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Fes	APN	7	80383273	missense	probably benign	0.01
IGL01654:Fes	APN	7	80386810	critical splice donor site	probably null
IGL02350:Fes	APN	7	80383830	splice site	probably null
IGL02357:Fes	APN	7	80383830	splice site	probably null
IGL02811:Fes	APN	7	80379841	missense	probably damaging	1.00
BB009:Fes	UTSW	7	80379872	missense	probably damaging	0.99
BB019:Fes	UTSW	7	80379872	missense	probably damaging	0.99
R0112:Fes	UTSW	7	80384005	missense	probably damaging	0.99
R0114:Fes	UTSW	7	80378035	missense	probably damaging	0.99
R0143:Fes	UTSW	7	80383895	missense	probably benign	0.00
R0786:Fes	UTSW	7	80386920	missense	probably damaging	1.00
R0863:Fes	UTSW	7	80380886	missense	probably damaging	1.00
R0918:Fes	UTSW	7	80381205	missense	probably damaging	1.00
R1167:Fes	UTSW	7	80383109	missense	probably damaging	1.00
R1174:Fes	UTSW	7	80377951	missense	probably damaging	1.00
R1674:Fes	UTSW	7	80377938	missense	probably benign	0.04
R1898:Fes	UTSW	7	80379911	missense	probably damaging	1.00
R1908:Fes	UTSW	7	80386861	missense	probably damaging	0.98
R1909:Fes	UTSW	7	80386861	missense	probably damaging	0.98
R1922:Fes	UTSW	7	80383986	nonsense	probably null
R2209:Fes	UTSW	7	80380283	missense	probably damaging	1.00
R2242:Fes	UTSW	7	80381725	missense	probably damaging	1.00
R3012:Fes	UTSW	7	80387167	missense	possibly damaging	0.81
R4607:Fes	UTSW	7	80387211	missense	probably damaging	1.00
R4608:Fes	UTSW	7	80387211	missense	probably damaging	1.00
R4982:Fes	UTSW	7	80387204	missense	probably damaging	1.00
R5516:Fes	UTSW	7	80387183	missense	probably damaging	1.00
R6120:Fes	UTSW	7	80380867	missense	probably damaging	1.00
R6148:Fes	UTSW	7	80380296	missense	probably damaging	1.00
R7161:Fes	UTSW	7	80380861	missense	probably damaging	0.98
R7408:Fes	UTSW	7	80378662	missense	probably damaging	1.00
R7761:Fes	UTSW	7	80380867	missense	probably damaging	1.00
R7932:Fes	UTSW	7	80379872	missense	probably damaging	0.99
R8261:Fes	UTSW	7	80383154	missense	probably null	1.00
R8815:Fes	UTSW	7	80383871	missense	possibly damaging	0.89
R8903:Fes	UTSW	7	80386811	unclassified	probably benign
R8936:Fes	UTSW	7	80381725	missense	probably damaging	1.00
R9012:Fes	UTSW	7	80383136	missense	possibly damaging	0.78
R9174:Fes	UTSW	7	80380883	missense	probably damaging	0.98
R9200:Fes	UTSW	7	80382392	missense	probably benign	0.00
R9679:Fes	UTSW	7	80383302	missense	probably benign	0.04
Z1177:Fes	UTSW	7	80378030	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTCCCACAGCAAAATGC -3'
(R):5'- GTTGTCTAGAGTGCTTGACCC -3'

Sequencing Primer
(F):5'- TGCCAAAGCTCCACACATC -3'
(R):5'- TCTAGAGTGCTTGACCCAGCTG -3'

Posted On

2019-09-13