Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Frk'

177262

Institutional Source

Beutler Lab

Gene Symbol

Frk

Ensembl Gene

ENSMUSG00000019779

Gene Name

fyn-related kinase

Synonyms

BSK/IYK, GTK

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

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

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34359395-34487274 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 34467806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130289 (fasta)

Gene Model

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

AlphaFold

Q922K9

Predicted Effect

probably null
Transcript: ENSMUST00000019913

SMART Domains

Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779

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 null
Transcript: ENSMUST00000019913

SMART Domains

Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779

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 null
Transcript: ENSMUST00000170771

SMART Domains

Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779

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 null
Transcript: ENSMUST00000170771

SMART Domains

Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779

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

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	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
R1033:Frk	UTSW	10	34,484,454 (GRCm39)	missense	probably damaging	1.00
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'- AAGGATAGGGCAGAAGTCAGTCCTC -3'
(R):5'- TGCAGGCTTCCATGTCTCATCAAC -3'

Sequencing Primer
(F):5'- CTAAATCCAAGATCTCTGGGTGG -3'
(R):5'- TGGGTGTCTTAGGCTCTTCA -3'

Posted On

2014-04-24