Mutagenetix > Incidental Mutation

Incidental Mutation 'R1396:Tnk1'

162657

Institutional Source

Beutler Lab

Gene Symbol

Tnk1

Ensembl Gene

ENSMUSG00000001583

Gene Name

tyrosine kinase, non-receptor, 1

Synonyms

Tnk1a, Kos1, Tnk1b

MMRRC Submission

039458-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69851005-69858730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69853136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 466 (C466S)

Ref Sequence

ENSEMBL: ENSMUSP00000104268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001626] [ENSMUST00000019605] [ENSMUST00000108626] [ENSMUST00000108628] [ENSMUST00000108632] [ENSMUST00000108633] [ENSMUST00000125571] [ENSMUST00000152566] [ENSMUST00000156507]

AlphaFold

Q99ML2

Predicted Effect

probably benign
Transcript: ENSMUST00000001626
AA Change: C461S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000001626
Gene: ENSMUSG00000001583
AA Change: C461S

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	80	1e-5	BLAST
TyrKc	116	378	1.2e-108	SMART
SH3	384	440	4.11e-1	SMART
low complexity region	504	517	N/A	INTRINSIC
low complexity region	528	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019605

SMART Domains

Protein: ENSMUSP00000019605
Gene: ENSMUSG00000019461

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108626

SMART Domains

Protein: ENSMUSP00000104266
Gene: ENSMUSG00000001583

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	80	6e-6	BLAST
TyrKc	116	378	1.2e-108	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108628
AA Change: C466S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104268
Gene: ENSMUSG00000001583
AA Change: C466S

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	80	1e-5	BLAST
TyrKc	116	378	1.2e-108	SMART
SH3	384	445	6.1e-1	SMART
low complexity region	509	522	N/A	INTRINSIC
low complexity region	533	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108632

SMART Domains

Protein: ENSMUSP00000104272
Gene: ENSMUSG00000019461

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108633

SMART Domains

Protein: ENSMUSP00000104273
Gene: ENSMUSG00000019461

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125571

SMART Domains

Protein: ENSMUSP00000118490
Gene: ENSMUSG00000001583

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	72	2e-6	BLAST
Pfam:Pkinase	116	268	3.3e-21	PFAM
Pfam:Pkinase_Tyr	116	268	1.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152566

SMART Domains

Protein: ENSMUSP00000123549
Gene: ENSMUSG00000019461

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	224	2.1e-56	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000156507
AA Change: C84S

SMART Domains

Protein: ENSMUSP00000120585
Gene: ENSMUSG00000001583
AA Change: C84S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	76	8.4e-17	PFAM
Pfam:Pkinase	1	97	1.2e-6	PFAM
low complexity region	127	140	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

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 tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice either heterozygous or homozygous for a knock-out allele develop spontaneous tumors, including lymphomas and carcinomas, at high rates. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,551	N248S	probably benign	Het
4930486L24Rik	G	A	13: 60,853,243	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,472	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,507,727	V267D	probably damaging	Het
C1s1	A	G	6: 124,531,051	S660P	probably damaging	Het
Ccdc40	A	G	11: 119,231,803	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,437,403	I167T	probably damaging	Het
Chd6	A	G	2: 160,983,103	L1212S	probably damaging	Het
Clock	G	C	5: 76,266,802	D15E	probably benign	Het
Clstn2	A	G	9: 97,461,393	V667A	probably benign	Het
Cr2	A	T	1: 195,169,253		probably null	Het
Cyp2e1	A	G	7: 140,773,079	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Etf1	G	A	18: 34,908,167	T298I	possibly damaging	Het
Gm5431	T	C	11: 48,895,434		probably benign	Het
Gss	G	A	2: 155,567,721	T265I	probably damaging	Het
Heatr1	C	T	13: 12,406,046	S406L	possibly damaging	Het
Hgsnat	C	A	8: 25,957,335	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,789,080	R598H	probably damaging	Het
Ints2	G	T	11: 86,249,248	Q253K	probably damaging	Het
Kng1	A	G	16: 23,078,980	M377V	probably benign	Het
Krt72	C	T	15: 101,786,005		probably null	Het
Lemd2	G	C	17: 27,190,732	R482G	probably damaging	Het
Lrpprc	C	T	17: 84,726,303	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,680,527	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,351,476	F191Y	probably damaging	Het
Mecom	T	C	3: 29,979,800	T252A	possibly damaging	Het
Mgat4e	T	C	1: 134,541,533	T258A	probably benign	Het
Mpeg1	A	G	19: 12,462,804	N542S	probably damaging	Het
Nln	C	T	13: 104,061,753	V184I	probably benign	Het
Nova1	A	C	12: 46,816,893	F91L	unknown	Het
Polk	T	C	13: 96,484,208	I516V	probably benign	Het
Ppig	C	T	2: 69,749,018	P357S	unknown	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rasal2	A	T	1: 157,164,666	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,435,571	E117K	probably benign	Het
Sbk3	A	G	7: 4,967,453	Y306H	possibly damaging	Het
Senp1	A	G	15: 98,076,554	S126P	probably benign	Het
Sfr1	A	G	19: 47,733,690	K182E	probably benign	Het
Slc25a4	C	A	8: 46,209,288	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Stard4	A	T	18: 33,206,210	N80K	probably damaging	Het
Tbk1	G	A	10: 121,571,916	T104M	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tmem102	A	T	11: 69,804,370	W259R	probably damaging	Het
Tspoap1	A	C	11: 87,766,120	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,011,530	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,426,998		probably null	Het
Vmn1r203	C	T	13: 22,524,508	T153M	probably benign	Het
Vmn1r89	T	A	7: 13,220,011	S157T	probably damaging	Het
Vmn2r103	A	T	17: 19,792,968	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,386,141	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,764,837	D727E	probably damaging	Het
Vps13c	A	G	9: 67,955,022	I2974V	probably benign	Het
Wrn	C	T	8: 33,268,819	G769D	probably damaging	Het
Zhx3	T	A	2: 160,781,020	H409L	possibly damaging	Het

Other mutations in Tnk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Tnk1	APN	11	69855905	unclassified	probably benign
IGL02668:Tnk1	APN	11	69856923	missense	probably damaging	1.00
R0211:Tnk1	UTSW	11	69855181	missense	probably damaging	1.00
R0211:Tnk1	UTSW	11	69855181	missense	probably damaging	1.00
R0389:Tnk1	UTSW	11	69855682	missense	probably damaging	1.00
R0529:Tnk1	UTSW	11	69855164	missense	probably damaging	1.00
R1436:Tnk1	UTSW	11	69852293	splice site	probably benign
R1494:Tnk1	UTSW	11	69856546	missense	possibly damaging	0.60
R1687:Tnk1	UTSW	11	69856473	missense	possibly damaging	0.75
R1752:Tnk1	UTSW	11	69856706	missense	possibly damaging	0.92
R1832:Tnk1	UTSW	11	69856928	missense	probably damaging	0.99
R2109:Tnk1	UTSW	11	69855183	missense	probably damaging	1.00
R2233:Tnk1	UTSW	11	69855191	splice site	probably null
R2234:Tnk1	UTSW	11	69855191	splice site	probably null
R2423:Tnk1	UTSW	11	69855761	missense	probably damaging	0.98
R3018:Tnk1	UTSW	11	69854911	intron	probably benign
R3689:Tnk1	UTSW	11	69855599	missense	probably damaging	1.00
R4746:Tnk1	UTSW	11	69855166	missense	probably damaging	1.00
R5653:Tnk1	UTSW	11	69853585	missense	probably damaging	1.00
R6154:Tnk1	UTSW	11	69856954	missense	probably damaging	1.00
R7384:Tnk1	UTSW	11	69851621	missense	probably damaging	1.00
R7649:Tnk1	UTSW	11	69853577	splice site	probably null
R7680:Tnk1	UTSW	11	69856745	missense	possibly damaging	0.89
R8021:Tnk1	UTSW	11	69854984	missense	probably benign	0.03
R8055:Tnk1	UTSW	11	69856501	missense	probably benign	0.09
R8390:Tnk1	UTSW	11	69851869	missense	possibly damaging	0.84
R9482:Tnk1	UTSW	11	69852840	missense	probably benign	0.00
R9526:Tnk1	UTSW	11	69855185	missense	probably damaging	1.00
X0061:Tnk1	UTSW	11	69852272	missense	probably damaging	1.00
Z1176:Tnk1	UTSW	11	69855523	missense	possibly damaging	0.94
Z1177:Tnk1	UTSW	11	69855677	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACCCACAAGGGAAGCTCCAGATG -3'
(R):5'- TCATTGAGGGCAGGTGACAACCTTATG -3'

Sequencing Primer
(F):5'- TGCTATTTGACCAGCAGTCC -3'
(R):5'- ttgtgttggagagaaaaaggc -3'

Posted On

2014-03-17