Mutagenetix > Incidental Mutations

Incidental Mutation 'R2233:Tnk1'

240199

Institutional Source

Beutler Lab

Gene Symbol

Tnk1

Ensembl Gene

ENSMUSG00000001583

Gene Name

tyrosine kinase, non-receptor, 1

Synonyms

Tnk1a, Kos1, Tnk1b

MMRRC Submission

040234-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69851005-69858730 bp(-) (GRCm38)

Type of Mutation

splice site (3133 bp from exon)

DNA Base Change (assembly)

C to T at 69855191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104273 (fasta)

Gene Model

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

AlphaFold

Q99ML2

Predicted Effect

probably damaging
Transcript: ENSMUST00000001626
AA Change: A303T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001626
Gene: ENSMUSG00000001583
AA Change: A303T

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 null
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 damaging
Transcript: ENSMUST00000108626
AA Change: A303T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104266
Gene: ENSMUSG00000001583
AA Change: A303T

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 damaging
Transcript: ENSMUST00000108628
AA Change: A303T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104268
Gene: ENSMUSG00000001583
AA Change: A303T

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 null
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 null
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

possibly damaging
Transcript: ENSMUST00000156507
AA Change: A42T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120585
Gene: ENSMUSG00000001583
AA Change: A42T

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dhx16	T	C	17: 35,887,886	C737R	probably damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably 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
R1396:Tnk1	UTSW	11	69853136	missense	probably benign	0.01
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
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
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'- ATTCTCACCTCTTGAAGCAGCC -3'
(R):5'- GTCATCAGGTCAAGAGGCAC -3'

Sequencing Primer
(F):5'- AAGCAGCCCTTCCAGGTTG -3'
(R):5'- CACAGAAAGGATTTTTGAGGCTAATG -3'

Posted On

2014-10-15