Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Fer'

209495

Institutional Source

Beutler Lab

Gene Symbol

Fer

Ensembl Gene

ENSMUSG00000000127

Gene Name

FER tyrosine kinase

Synonyms

C330004K01Rik, Fert, Fert2

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64170057-64446491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64445909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 790 (V790D)

Ref Sequence

ENSEMBL: ENSMUSP00000000129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000129] [ENSMUST00000038080]

AlphaFold

P70451

Predicted Effect

probably damaging
Transcript: ENSMUST00000000129
AA Change: V790D

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000129
Gene: ENSMUSG00000000127
AA Change: V790D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038080
AA Change: V420D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037418
Gene: ENSMUSG00000000127
AA Change: V420D

Domain	Start	End	E-Value	Type
SH2	89	168	5.9e-30	SMART
TyrKc	194	445	6.69e-148	SMART

Coding Region Coverage

1x: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,721,280 (GRCm39)	A205D	probably benign	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Esrp2	A	G	8: 106,858,453 (GRCm39)	V636A	possibly damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pes1	A	G	11: 3,919,482 (GRCm39)	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc2a4	C	T	11: 69,835,833 (GRCm39)	V339I	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (GRCm39)		probably null	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
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
R7198:Fer	UTSW	17	64,228,683 (GRCm39)	missense	possibly damaging	0.84
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'- ACAGGTACGTGGCTCTGTAG -3'
(R):5'- TTCAAAGATGGTTGCAGTAAGGTG -3'

Sequencing Primer
(F):5'- ACCCACATGTGCGAGCTC -3'
(R):5'- TGGTTGCAGTAAGGTGGTATAAAG -3'

Posted On

2014-06-30