Mutagenetix > Incidental Mutation

Incidental Mutation 'R8341:Frk'

644903

Institutional Source

Beutler Lab

Gene Symbol

Frk

Ensembl Gene

ENSMUSG00000019779

Gene Name

fyn-related kinase

Synonyms

BSK/IYK, GTK

MMRRC Submission

067865-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R8341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34359395-34487274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34462279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 257 (E257K)

Ref Sequence

ENSEMBL: ENSMUSP00000019913 (fasta)

Gene Model

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

AlphaFold

Q922K9

PDB Structure

Solution structure of the SH3 domain of Fyn-related kinase [SOLUTION NMR]
Solution structure of the SH2 domain of murine Fyn-related kinase [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000019913
AA Change: E257K

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

SMART Domains

Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779
AA Change: E257K

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: E257K

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

SMART Domains

Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779
AA Change: E257K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,845,876 (GRCm39)	I915F	probably damaging	Het
Adam11	C	A	11: 102,667,362 (GRCm39)	H641N	probably damaging	Het
Amfr	A	G	8: 94,725,806 (GRCm39)	S192P	probably damaging	Het
Ano9	T	A	7: 140,682,247 (GRCm39)	N676I	possibly damaging	Het
Arfgef1	C	T	1: 10,224,553 (GRCm39)	V1428I	probably benign	Het
B3gnt9	C	T	8: 105,980,497 (GRCm39)	R297H	probably benign	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
C1s1	C	T	6: 124,508,115 (GRCm39)	A625T	probably damaging	Het
Camkmt	T	C	17: 85,747,008 (GRCm39)	L251P	probably damaging	Het
Ceacam15	C	A	7: 16,405,928 (GRCm39)	V208F	probably benign	Het
Clp1	T	C	2: 84,554,117 (GRCm39)	K351E	probably damaging	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Cubn	C	A	2: 13,433,535 (GRCm39)	G1125V	probably damaging	Het
Dpp4	C	T	2: 62,178,234 (GRCm39)	V633I	probably benign	Het
Eif2ak1	A	T	5: 143,821,755 (GRCm39)	D357V	probably benign	Het
Fez1	T	C	9: 36,787,605 (GRCm39)	M370T	possibly damaging	Het
Gm7579	T	A	7: 141,765,856 (GRCm39)	C87*	probably null	Het
Henmt1	T	C	3: 108,865,908 (GRCm39)	V211A	probably damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Ints9	T	A	14: 65,273,863 (GRCm39)	V556E	probably benign	Het
Itprid2	A	T	2: 79,488,062 (GRCm39)	K715I	probably damaging	Het
Klhl41	T	C	2: 69,500,868 (GRCm39)	S110P	probably benign	Het
Klrk1	T	C	6: 129,599,663 (GRCm39)		probably benign	Het
Kmt2e	A	T	5: 23,704,451 (GRCm39)	S1215C	probably damaging	Het
Lyn	T	C	4: 3,743,304 (GRCm39)		probably null	Het
Map2k5	T	A	9: 63,246,380 (GRCm39)	N116Y	probably damaging	Het
Map3k13	G	T	16: 21,740,334 (GRCm39)	E554*	probably null	Het
Map6	A	G	7: 98,917,647 (GRCm39)	E140G	possibly damaging	Het
Mpv17	A	C	5: 31,311,447 (GRCm39)		probably null	Het
Myo1c	C	T	11: 75,562,253 (GRCm39)	P883S	probably benign	Het
Myo7b	T	C	18: 32,116,979 (GRCm39)	M914V	probably benign	Het
Olfm2	C	T	9: 20,583,918 (GRCm39)		probably null	Het
Or2b4	G	A	17: 38,116,543 (GRCm39)	C169Y	probably damaging	Het
Osbpl7	T	G	11: 96,950,989 (GRCm39)	L612R	probably damaging	Het
Polq	A	T	16: 36,892,133 (GRCm39)	M2012L	possibly damaging	Het
Ppp1r7	G	A	1: 93,274,000 (GRCm39)	D59N	probably benign	Het
Ppp4r3c2	A	T	X: 88,798,322 (GRCm39)	K718M	probably damaging	Het
Ptbp1	A	C	10: 79,699,045 (GRCm39)	E534D	probably benign	Het
Qser1	A	G	2: 104,619,820 (GRCm39)	Y241H	probably damaging	Het
Rbx1	T	C	15: 81,358,078 (GRCm39)	L88P	probably damaging	Het
Rft1	T	C	14: 30,411,838 (GRCm39)	L462P	probably damaging	Het
Serpinb9f	T	A	13: 33,511,290 (GRCm39)	L77*	probably null	Het
Shisa9	T	C	16: 11,815,015 (GRCm39)	M221T	possibly damaging	Het
Slc12a2	T	G	18: 58,012,281 (GRCm39)	F135V	possibly damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc44a2	T	C	9: 21,253,495 (GRCm39)	F88L	probably benign	Het
Snx21	A	G	2: 164,633,805 (GRCm39)	E197G	probably damaging	Het
Srarp	T	C	4: 141,160,707 (GRCm39)	D42G	possibly damaging	Het
St6galnac1	T	A	11: 116,659,714 (GRCm39)	M200L	probably benign	Het
Stambpl1	A	T	19: 34,211,401 (GRCm39)	Q154L	probably benign	Het
Szt2	G	T	4: 118,250,033 (GRCm39)	R492S	possibly damaging	Het
Thbs3	G	A	3: 89,132,698 (GRCm39)	R880Q	probably benign	Het
Tnks	A	T	8: 35,340,199 (GRCm39)	L473H	probably damaging	Het
Ttc4	A	G	4: 106,522,893 (GRCm39)	S342P	probably benign	Het
Uckl1	T	A	2: 181,211,512 (GRCm39)	M463L	probably benign	Het
Unc80	T	C	1: 66,688,192 (GRCm39)	S2397P	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,128 (GRCm39)	H728L	probably benign	Het
Vsig10l	T	C	7: 43,113,378 (GRCm39)	V110A	probably damaging	Het
Zgrf1	T	A	3: 127,354,564 (GRCm39)	L61*	probably null	Het
Zswim5	A	G	4: 116,843,989 (GRCm39)	Y1009C	probably 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
R1033:Frk	UTSW	10	34,484,454 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTCCTCTAAGCTAGTGCCATAAC -3'
(R):5'- GATGAACATGCCCTTGTCTTCC -3'

Sequencing Primer
(F):5'- GCTAGTGCCATAACTTATTTCTGAC -3'
(R):5'- AAAGCTCTCTATAGTTTTTAGTCGCC -3'

Posted On

2020-09-02