Mutagenetix > Incidental Mutation

Incidental Mutation 'R7198:Fer'

560114

Institutional Source

Beutler Lab

Gene Symbol

Fer

Ensembl Gene

ENSMUSG00000000127

Gene Name

FER tyrosine kinase

Synonyms

C330004K01Rik, Fert, Fert2

MMRRC Submission

045337-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64170057-64446491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64228683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 186 (V186E)

Ref Sequence

ENSEMBL: ENSMUSP00000000129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000129]

AlphaFold

P70451

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000129
AA Change: V186E

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: V186E

Domain	Start	End	E-Value	Type
FCH	1	92	1.29e-27	SMART
coiled coil region	123	174	N/A	INTRINSIC
low complexity region	283	294	N/A	INTRINSIC
coiled coil region	308	381	N/A	INTRINSIC
SH2	459	538	5.9e-30	SMART
TyrKc	564	815	6.69e-148	SMART

Meta Mutation Damage Score

0.9263

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a targeted mutation exhibit elevated lipopolysaccharide-induced leukocyte adhesion and migration. Mutant cells also exhibit reduced phosphorylation of cortactin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 109,969,481 (GRCm39)	S365N	probably damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	A	G	2: 59,792,550 (GRCm39)	L526P	probably benign	Het
Bbs1	A	T	19: 4,945,043 (GRCm39)	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,112,511 (GRCm39)	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,116,183 (GRCm39)	Q837R	probably damaging	Het
Cct2	A	G	10: 116,889,029 (GRCm39)	V490A	probably benign	Het
Cdh23	T	C	10: 60,148,378 (GRCm39)	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,078,229 (GRCm39)	K346E	possibly damaging	Het
Chl1	A	G	6: 103,683,517 (GRCm39)	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,557,314 (GRCm39)	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 131,681,813 (GRCm39)	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,519,330 (GRCm39)	Y54H	probably benign	Het
Dclk1	A	C	3: 55,385,296 (GRCm39)	D369A	possibly damaging	Het
Dnai4	A	G	4: 102,919,610 (GRCm39)	V498A	probably damaging	Het
Dpy19l3	T	C	7: 35,449,190 (GRCm39)	N71S	possibly damaging	Het
Efcab3	T	A	11: 104,642,711 (GRCm39)	N1111K	probably benign	Het
Gm11042	T	A	12: 74,361,888 (GRCm39)	H39L	unknown	Het
Gm14325	A	G	2: 177,473,798 (GRCm39)	I428T	probably benign	Het
Gm47995	A	G	1: 151,074,404 (GRCm39)	E69G	possibly damaging	Het
Gm6176	T	A	7: 21,750,596 (GRCm39)	I112F	probably damaging	Het
Hivep2	T	A	10: 14,005,710 (GRCm39)	D769E	probably benign	Het
Hsdl1	C	T	8: 120,294,607 (GRCm39)	V40I	probably benign	Het
Ipmk	A	G	10: 71,183,882 (GRCm39)	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,366,856 (GRCm39)	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,375,316 (GRCm39)	M181V	probably damaging	Het
Lats2	A	T	14: 57,934,582 (GRCm39)	I716N	probably damaging	Het
Liph	T	C	16: 21,784,772 (GRCm39)	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,533,962 (GRCm39)	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,634,384 (GRCm39)	S69T	probably benign	Het
Meltf	A	G	16: 31,702,617 (GRCm39)	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,258,902 (GRCm39)	D16E	probably benign	Het
Mthfd2l	T	A	5: 91,094,705 (GRCm39)	I58K	probably damaging	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Nek10	T	A	14: 14,850,947 (GRCm38)	W331R	probably damaging	Het
Nphp3	A	G	9: 103,881,974 (GRCm39)	Y148C	probably damaging	Het
Or4a47	T	C	2: 89,666,076 (GRCm39)	Y71C	probably damaging	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or6c33	T	A	10: 129,853,760 (GRCm39)	C177S	probably damaging	Het
Oscp1	A	G	4: 125,980,459 (GRCm39)	T325A	possibly damaging	Het
Pcdha4	T	A	18: 37,086,613 (GRCm39)	N265K	probably damaging	Het
Pigq	C	T	17: 26,153,199 (GRCm39)	V331I	probably benign	Het
Plekhg4	A	G	8: 106,105,329 (GRCm39)	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,303,748 (GRCm39)	T120M	probably damaging	Het
Psg27	T	A	7: 18,295,726 (GRCm39)	T240S	probably damaging	Het
Samd12	T	A	15: 53,723,649 (GRCm39)	I15F	probably damaging	Het
Scaf4	A	T	16: 90,049,318 (GRCm39)	D256E	unknown	Het
Scaf8	T	A	17: 3,213,373 (GRCm39)	M154K	unknown	Het
Slc27a1	T	C	8: 72,032,071 (GRCm39)	V64A	possibly damaging	Het
Smc5	G	A	19: 23,237,064 (GRCm39)	R256*	probably null	Het
Snx31	A	G	15: 36,555,455 (GRCm39)	F31L	probably benign	Het
Spag17	T	C	3: 100,002,888 (GRCm39)	S1871P	probably benign	Het
Tdpoz4	T	G	3: 93,704,662 (GRCm39)	S320A	probably benign	Het
Tmprss11c	A	T	5: 86,379,691 (GRCm39)	C406S	probably damaging	Het
Tnip1	G	A	11: 54,808,630 (GRCm39)	A519V	probably benign	Het
Tssc4	T	A	7: 142,624,724 (GRCm39)		probably null	Het
Uba3	A	T	6: 97,182,512 (GRCm39)	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Wnt11	T	C	7: 98,496,588 (GRCm39)	M176T	possibly damaging	Het
Wrn	C	T	8: 33,814,346 (GRCm39)	G366D	probably benign	Het
Xylt1	T	A	7: 117,255,807 (GRCm39)	I793N	probably damaging	Het
Zfp677	T	G	17: 21,618,679 (GRCm39)	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 10,799,626 (GRCm39)	K421M	probably damaging	Het

Other mutations in Fer

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:Fer	APN	17	64,344,621 (GRCm39)	missense	probably damaging	1.00
IGL02004:Fer	APN	17	64,231,174 (GRCm39)	critical splice donor site	probably null
IGL02103:Fer	APN	17	64,445,923 (GRCm39)	missense	probably benign	0.02
IGL02157:Fer	APN	17	64,445,894 (GRCm39)	missense	probably benign	0.03
IGL02217:Fer	APN	17	64,445,960 (GRCm39)	missense	probably benign	0.00
IGL02376:Fer	APN	17	64,241,341 (GRCm39)	missense	possibly damaging	0.69
IGL02955:Fer	APN	17	64,298,712 (GRCm39)	critical splice donor site	probably null
IGL02967:Fer	APN	17	64,203,262 (GRCm39)	missense	possibly damaging	0.69
IGL03392:Fer	APN	17	64,298,637 (GRCm39)	missense	probably damaging	0.97
R0095:Fer	UTSW	17	64,248,321 (GRCm39)	missense	possibly damaging	0.51
R0095:Fer	UTSW	17	64,248,321 (GRCm39)	missense	possibly damaging	0.51
R0207:Fer	UTSW	17	64,203,273 (GRCm39)	missense	probably damaging	1.00
R0243:Fer	UTSW	17	64,385,941 (GRCm39)	missense	probably benign	0.00
R0309:Fer	UTSW	17	64,446,011 (GRCm39)	makesense	probably null
R0384:Fer	UTSW	17	64,231,179 (GRCm39)	splice site	probably benign
R0634:Fer	UTSW	17	64,342,503 (GRCm39)	missense	probably benign	0.40
R1885:Fer	UTSW	17	64,445,909 (GRCm39)	missense	probably damaging	0.96
R1939:Fer	UTSW	17	64,280,123 (GRCm39)	missense	probably damaging	1.00
R2427:Fer	UTSW	17	64,264,298 (GRCm39)	missense	probably benign
R2504:Fer	UTSW	17	64,298,575 (GRCm39)	splice site	probably null
R4301:Fer	UTSW	17	64,385,905 (GRCm39)	missense	probably damaging	1.00
R4404:Fer	UTSW	17	64,248,284 (GRCm39)	critical splice acceptor site	probably null
R4418:Fer	UTSW	17	64,336,286 (GRCm39)	missense	possibly damaging	0.89
R4812:Fer	UTSW	17	64,241,292 (GRCm39)	missense	probably benign
R5561:Fer	UTSW	17	64,344,580 (GRCm39)	nonsense	probably null
R5724:Fer	UTSW	17	64,231,152 (GRCm39)	missense	probably damaging	1.00
R5936:Fer	UTSW	17	64,231,058 (GRCm39)	missense	probably benign
R6157:Fer	UTSW	17	64,385,880 (GRCm39)	missense	probably damaging	1.00
R6848:Fer	UTSW	17	64,298,601 (GRCm39)	missense	probably damaging	1.00
R7175:Fer	UTSW	17	64,231,090 (GRCm39)	missense	probably benign	0.01
R7438:Fer	UTSW	17	64,440,516 (GRCm39)	missense	possibly damaging	0.91
R7723:Fer	UTSW	17	64,203,273 (GRCm39)	missense	probably damaging	1.00
R7949:Fer	UTSW	17	64,440,503 (GRCm39)	missense	probably damaging	1.00
R8064:Fer	UTSW	17	64,214,418 (GRCm39)	missense	probably benign	0.04
R8472:Fer	UTSW	17	64,280,144 (GRCm39)	missense	probably benign	0.00
R9032:Fer	UTSW	17	64,228,767 (GRCm39)	missense	probably damaging	0.99
R9085:Fer	UTSW	17	64,228,767 (GRCm39)	missense	probably damaging	0.99
R9358:Fer	UTSW	17	64,280,076 (GRCm39)	missense	possibly damaging	0.79
R9452:Fer	UTSW	17	64,231,067 (GRCm39)	missense	probably benign
R9608:Fer	UTSW	17	64,214,327 (GRCm39)	missense	probably benign
R9747:Fer	UTSW	17	64,214,376 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TTGGCATAGCACTCTATACACAG -3'
(R):5'- GACACAAATGGAACTGCGGC -3'

Sequencing Primer
(F):5'- AGCCGACTTGATTCTCCATTGAG -3'
(R):5'- TGGAACTGCGGCAGAAATGC -3'

Posted On

2019-06-26