Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02197:Frk'

284068

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Frk

Ensembl Gene

ENSMUSG00000019779

Gene Name

fyn-related kinase

Synonyms

BSK/IYK, GTK

Accession Numbers

Essential gene?

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

Stock #

IGL02197

Quality Score

Status

Chromosome

Chromosomal Location

34359395-34487274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34360330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 110 (N110K)

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: N110K

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

SMART Domains

Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779
AA Change: N110K

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: N110K

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

SMART Domains

Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779
AA Change: N110K

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: ENSMUST00000215144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215594

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	T	C	2: 20,885,117 (GRCm39)	S526G	probably benign	Het
Atad2b	A	T	12: 5,068,056 (GRCm39)	N1018I	possibly damaging	Het
Baz1b	A	G	5: 135,237,951 (GRCm39)	E209G	probably benign	Het
Bltp1	A	G	3: 36,960,884 (GRCm39)	T445A	probably damaging	Het
Capn11	T	A	17: 45,950,782 (GRCm39)	T264S	probably benign	Het
Cdh1	A	G	8: 107,380,418 (GRCm39)	E187G	probably benign	Het
Cps1	A	G	1: 67,196,923 (GRCm39)	I325V	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dmbt1	A	G	7: 130,687,152 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,530,496 (GRCm39)	D203G	probably damaging	Het
Eif2ak3	A	G	6: 70,878,441 (GRCm39)	Y1045C	probably benign	Het
Fam13a	T	A	6: 58,912,586 (GRCm39)	D689V	possibly damaging	Het
Fnip1	T	A	11: 54,384,200 (GRCm39)	L342I	probably damaging	Het
Gm5134	T	C	10: 75,790,536 (GRCm39)		probably null	Het
Gm53	T	C	11: 96,142,549 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,163 (GRCm39)		noncoding transcript	Het
Gm9936	A	G	5: 114,995,152 (GRCm39)		probably benign	Het
Hk3	A	G	13: 55,162,281 (GRCm39)	F108L	probably damaging	Het
Homer2	A	T	7: 81,260,147 (GRCm39)	S296T	probably benign	Het
Itga2b	T	A	11: 102,357,145 (GRCm39)	H245L	probably benign	Het
Ky	T	C	9: 102,414,985 (GRCm39)	F299S	possibly damaging	Het
Lama5	A	G	2: 179,849,012 (GRCm39)	Y224H	possibly damaging	Het
Leng9	G	T	7: 4,151,723 (GRCm39)	L318I	probably damaging	Het
Lpin1	A	G	12: 16,608,408 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Map2k3	A	G	11: 60,837,590 (GRCm39)	Y230C	probably damaging	Het
Myef2	T	C	2: 124,955,959 (GRCm39)		probably null	Het
Myh3	A	T	11: 66,989,409 (GRCm39)	I1510L	probably benign	Het
Mypn	T	C	10: 62,959,057 (GRCm39)	D1088G	possibly damaging	Het
Nek9	C	A	12: 85,354,704 (GRCm39)	V745L	probably null	Het
Neu1	T	A	17: 35,153,641 (GRCm39)	V355D	possibly damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or4c107	A	G	2: 88,789,028 (GRCm39)	T73A	probably benign	Het
Or6e1	T	C	14: 54,519,409 (GRCm39)	*314W	probably null	Het
Papola	A	T	12: 105,795,442 (GRCm39)	N631I	possibly damaging	Het
Pcnx1	T	C	12: 81,965,878 (GRCm39)	S682P	probably benign	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pga5	A	G	19: 10,649,277 (GRCm39)		probably benign	Het
Phlda1	T	A	10: 111,343,014 (GRCm39)	M250K	probably damaging	Het
Phox2b	A	G	5: 67,253,869 (GRCm39)		probably benign	Het
Pkdrej	A	G	15: 85,699,994 (GRCm39)	Y1981H	possibly damaging	Het
Pold1	G	A	7: 44,191,663 (GRCm39)	P108S	probably benign	Het
Ptprg	T	G	14: 12,220,613 (GRCm38)	F442V	probably damaging	Het
Rab36	A	G	10: 74,887,874 (GRCm39)	I248M	probably damaging	Het
Scnn1b	G	A	7: 121,502,113 (GRCm39)	R257Q	probably null	Het
Sdc1	A	G	12: 8,840,835 (GRCm39)	Q200R	possibly damaging	Het
Slc10a7	A	G	8: 79,242,292 (GRCm39)	T60A	probably damaging	Het
Snx13	A	G	12: 35,156,800 (GRCm39)	D484G	probably damaging	Het
Tlr1	G	A	5: 65,083,797 (GRCm39)	T260M	probably damaging	Het
Tpcn1	A	G	5: 120,691,596 (GRCm39)	V286A	probably damaging	Het
Traip	T	G	9: 107,845,936 (GRCm39)	L343R	possibly damaging	Het
Unc13b	A	G	4: 43,165,828 (GRCm39)	H204R	probably damaging	Het
Unc80	A	G	1: 66,569,224 (GRCm39)	S960G	probably benign	Het
V1ra8	C	T	6: 90,180,184 (GRCm39)	P129L	probably benign	Het
Vps13b	T	A	15: 35,930,202 (GRCm39)	F3980I	probably benign	Het
Vps13d	T	C	4: 144,854,879 (GRCm39)	N2248S	probably benign	Het
Vps26c	G	T	16: 94,302,549 (GRCm39)		probably benign	Het
Wnk4	T	C	11: 101,154,783 (GRCm39)	L324P	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
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
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

Posted On

2015-04-16