Mutagenetix > Incidental Mutation

Incidental Mutation 'R1033:Frk'

95285

Institutional Source

Beutler Lab

Gene Symbol

Frk

Ensembl Gene

ENSMUSG00000019779

Gene Name

fyn-related kinase

Synonyms

BSK/IYK, GTK

MMRRC Submission

039132-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R1033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34359395-34487274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34484454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 476 (C476R)

Ref Sequence

ENSEMBL: ENSMUSP00000130289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019913] [ENSMUST00000170771]

AlphaFold

Q922K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000019913
AA Change: C476R

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

SMART Domains

Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779
AA Change: C476R

Domain	Start	End	E-Value	Type
SH3	52	116	2.76e-19	SMART
SH2	121	206	4.97e-37	SMART
TyrKc	241	494	8.58e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170771
AA Change: C476R

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

SMART Domains

Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779
AA Change: C476R

Domain	Start	End	E-Value	Type
SH3	52	116	2.76e-19	SMART
SH2	121	206	4.97e-37	SMART
TyrKc	241	494	8.58e-137	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215594

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.7%

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 belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit increased susceptibility to spontaneous tumors nor increased sensitivity to inoizing radiation. Epithelial tissues appear similar to controls, but circulating levels of T3 were significantly reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Akap6	A	C	12: 53,116,005 (GRCm39)	D1036A	probably damaging	Het
Alg6	T	C	4: 99,650,270 (GRCm39)	S497P	probably benign	Het
Arhgap10	T	A	8: 77,983,976 (GRCm39)	I700L	possibly damaging	Het
Atp11a	A	G	8: 12,878,555 (GRCm39)	Y377C	probably damaging	Het
Atp2b2	A	T	6: 113,770,849 (GRCm39)		probably null	Het
Card14	T	A	11: 119,229,196 (GRCm39)	V702D	probably damaging	Het
Ccdc17	C	T	4: 116,454,077 (GRCm39)	R32*	probably null	Het
Cdh20	A	T	1: 110,012,783 (GRCm39)	D372V	probably damaging	Het
Cfap54	A	T	10: 92,675,311 (GRCm39)	I2870N	probably benign	Het
Cped1	G	T	6: 22,016,950 (GRCm39)	V100F	probably damaging	Het
Dapk1	T	C	13: 60,869,679 (GRCm39)		probably null	Het
Exoc4	G	A	6: 33,242,922 (GRCm39)	G45D	probably damaging	Het
Fam110b	A	T	4: 5,799,440 (GRCm39)	N286I	probably benign	Het
Fbxo10	A	T	4: 45,062,236 (GRCm39)	C97S	probably damaging	Het
Frem3	A	T	8: 81,421,786 (GRCm39)	H2062L	probably benign	Het
Gm10542	A	G	18: 44,337,668 (GRCm39)	T49A	probably benign	Het
Gm128	A	G	3: 95,147,322 (GRCm39)	V324A	possibly damaging	Het
Gpr141	C	T	13: 19,935,880 (GRCm39)	M298I	probably benign	Het
Gxylt1	T	C	15: 93,142,958 (GRCm39)	E369G	probably benign	Het
Hpse2	A	G	19: 42,901,638 (GRCm39)	V368A	probably benign	Het
Ice1	A	T	13: 70,754,713 (GRCm39)	S458T	probably damaging	Het
Itgb7	T	A	15: 102,131,989 (GRCm39)	D198V	probably damaging	Het
Kcnk10	A	G	12: 98,484,929 (GRCm39)	V72A	possibly damaging	Het
Magel2	A	G	7: 62,029,798 (GRCm39)	M901V	unknown	Het
Mgam	A	T	6: 40,657,558 (GRCm39)	Y971F	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mug1	A	T	6: 121,857,510 (GRCm39)	D1078V	probably damaging	Het
Myom2	G	A	8: 15,158,934 (GRCm39)	R870H	probably benign	Het
Nek8	A	T	11: 78,062,111 (GRCm39)	L71Q	probably null	Het
Nox4	T	A	7: 87,023,621 (GRCm39)	D502E	probably damaging	Het
Nsmaf	G	A	4: 6,438,054 (GRCm39)	P73S	probably damaging	Het
Nup205	C	T	6: 35,204,377 (GRCm39)	A1421V	probably benign	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or1p1	A	C	11: 74,179,492 (GRCm39)	T7P	probably damaging	Het
Or3a1	A	C	11: 74,225,462 (GRCm39)	N198K	possibly damaging	Het
Or4k38	A	T	2: 111,166,147 (GRCm39)	I92N	probably damaging	Het
Or5al7	A	G	2: 85,993,194 (GRCm39)	I33T	possibly damaging	Het
Pals2	T	C	6: 50,160,716 (GRCm39)	Y326H	probably damaging	Het
Prkdc	T	C	16: 15,585,815 (GRCm39)	L2451P	probably damaging	Het
Rad51ap2	C	T	12: 11,506,252 (GRCm39)	S58F	probably damaging	Het
Rbbp8	A	G	18: 11,875,762 (GRCm39)	R892G	probably benign	Het
Rock1	A	G	18: 10,067,535 (GRCm39)	S1333P	probably benign	Het
Rpl7	A	G	1: 16,172,728 (GRCm39)	I197T	probably benign	Het
Sar1a	C	A	10: 61,521,395 (GRCm39)	Q81K	probably damaging	Het
Shank1	A	T	7: 44,006,220 (GRCm39)	H1979L	possibly damaging	Het
Slc10a2	C	T	8: 5,154,889 (GRCm39)	V99M	probably damaging	Het
Slc22a30	G	A	19: 8,313,165 (GRCm39)	Q436*	probably null	Het
Spata31e2	G	A	1: 26,721,466 (GRCm39)	P1238L	probably benign	Het
Speer4a2	T	C	5: 26,294,125 (GRCm39)	K18E	probably benign	Het
Szt2	C	T	4: 118,244,303 (GRCm39)	R1305H	probably damaging	Het
Ubash3a	G	A	17: 31,427,186 (GRCm39)	G32S	probably damaging	Het
Vmn1r200	G	A	13: 22,580,060 (GRCm39)	D279N	probably damaging	Het
Zbtb8a	T	C	4: 129,248,014 (GRCm39)	D419G	possibly damaging	Het

Other mutations in Frk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Frk	APN	10	34,360,239 (GRCm39)	missense	probably damaging	0.98
IGL01402:Frk	APN	10	34,423,381 (GRCm39)	missense	probably damaging	1.00
IGL02197:Frk	APN	10	34,360,330 (GRCm39)	missense	probably damaging	1.00
IGL02289:Frk	APN	10	34,360,362 (GRCm39)	missense	probably damaging	0.99
IGL02618:Frk	APN	10	34,459,960 (GRCm39)	missense	possibly damaging	0.88
IGL02885:Frk	APN	10	34,360,067 (GRCm39)	missense	probably benign	0.03
IGL03256:Frk	APN	10	34,483,838 (GRCm39)	missense	probably benign	0.00
R0299:Frk	UTSW	10	34,360,367 (GRCm39)	critical splice donor site	probably null
R0697:Frk	UTSW	10	34,483,833 (GRCm39)	missense	probably benign	0.12
R1583:Frk	UTSW	10	34,467,806 (GRCm39)	critical splice acceptor site	probably null
R1793:Frk	UTSW	10	34,483,878 (GRCm39)	missense	probably benign	0.05
R2248:Frk	UTSW	10	34,484,527 (GRCm39)	missense	probably benign	0.10
R3084:Frk	UTSW	10	34,483,950 (GRCm39)	missense	probably damaging	1.00
R3086:Frk	UTSW	10	34,483,950 (GRCm39)	missense	probably damaging	1.00
R3765:Frk	UTSW	10	34,360,001 (GRCm39)	start codon destroyed	probably null	0.98
R3766:Frk	UTSW	10	34,360,001 (GRCm39)	start codon destroyed	probably null	0.98
R3906:Frk	UTSW	10	34,460,052 (GRCm39)	missense	probably benign	0.00
R4163:Frk	UTSW	10	34,467,868 (GRCm39)	missense	probably damaging	0.98
R4486:Frk	UTSW	10	34,484,377 (GRCm39)	missense	probably benign	0.10
R4591:Frk	UTSW	10	34,481,829 (GRCm39)	missense	probably benign	0.03
R4821:Frk	UTSW	10	34,360,233 (GRCm39)	missense	probably benign	0.01
R5070:Frk	UTSW	10	34,360,280 (GRCm39)	nonsense	probably null
R6172:Frk	UTSW	10	34,467,961 (GRCm39)	missense	probably damaging	1.00
R6572:Frk	UTSW	10	34,459,963 (GRCm39)	missense	probably benign	0.00
R6619:Frk	UTSW	10	34,481,835 (GRCm39)	missense	probably benign	0.22
R7307:Frk	UTSW	10	34,467,934 (GRCm39)	missense	probably damaging	1.00
R7486:Frk	UTSW	10	34,423,292 (GRCm39)	nonsense	probably null
R7916:Frk	UTSW	10	34,360,021 (GRCm39)	missense	possibly damaging	0.74
R8341:Frk	UTSW	10	34,462,279 (GRCm39)	missense	probably damaging	1.00
R8675:Frk	UTSW	10	34,484,493 (GRCm39)	missense	probably benign	0.00
R8801:Frk	UTSW	10	34,423,402 (GRCm39)	missense	possibly damaging	0.78
R9608:Frk	UTSW	10	34,481,873 (GRCm39)	critical splice donor site	probably null
Z1177:Frk	UTSW	10	34,460,001 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGGCTGACCATTCCATGTTCCTG -3'
(R):5'- TGGACTGATGAGCCCCACGTTTTC -3'

Sequencing Primer
(F):5'- CTTATAGACAAGACTTGCTGCTGG -3'
(R):5'- GATGAGCCCCACGTTTTCATATC -3'

Posted On

2014-01-05