Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Txk'

489514

Institutional Source

Beutler Lab

Gene Symbol

Txk

Ensembl Gene

ENSMUSG00000054892

Gene Name

TXK tyrosine kinase

Synonyms

A130089B16Rik, PTK4, Btkl, Rlk

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72695978-72752777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72700726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 360 (Y360H)

Ref Sequence

ENSEMBL: ENSMUSP00000143002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113604] [ENSMUST00000169534] [ENSMUST00000197313] [ENSMUST00000198464]

AlphaFold

P42682

Predicted Effect

probably damaging
Transcript: ENSMUST00000113604
AA Change: Y414H

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

SMART Domains

Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: Y414H

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
SH3	85	141	9.99e-17	SMART
SH2	148	237	8.27e-34	SMART
TyrKc	271	520	2.52e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169534
AA Change: Y414H

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

SMART Domains

Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: Y414H

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
SH3	85	141	9.99e-17	SMART
SH2	148	237	8.27e-34	SMART
TyrKc	271	520	2.52e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000197313
AA Change: Y392H

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

SMART Domains

Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: Y392H

Domain	Start	End	E-Value	Type
low complexity region	8	28	N/A	INTRINSIC
low complexity region	72	81	N/A	INTRINSIC
SH3	85	138	1.2e-9	SMART
SH2	126	215	3.1e-35	SMART
TyrKc	249	498	1.2e-136	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197843

Predicted Effect

probably damaging
Transcript: ENSMUST00000198464
AA Change: Y360H

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

SMART Domains

Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: Y360H

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
SH3	31	87	6.3e-19	SMART
SH2	94	183	5.4e-36	SMART
TyrKc	217	466	1.2e-136	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198970

Meta Mutation Damage Score

0.2391

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to parasitic (Toxoplasma gondii) infection and decreased cytokine secretion in stimulated splenocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,963,644	Y319C	probably benign	Het
Actn4	A	C	7: 28,896,141	I763S	probably damaging	Het
Actr8	G	A	14: 29,978,589		probably null	Het
Adrb1	T	C	19: 56,722,904	L178P	probably damaging	Het
Afap1	A	G	5: 35,935,609	Y19C	unknown	Het
Ankrd36	A	G	11: 5,687,442	E1337G	probably benign	Het
Arl4a	A	C	12: 40,036,520	V76G	probably damaging	Het
B230118H07Rik	A	T	2: 101,576,010		probably null	Het
Bmp1	A	T	14: 70,508,007	I246K	probably damaging	Het
Camk4	A	T	18: 32,939,447	T18S	unknown	Het
Cep152	T	C	2: 125,581,700	H927R	probably benign	Het
Clca3a2	A	G	3: 144,819,357	I38T	probably damaging	Het
Clec2g	A	C	6: 128,980,273	T54P	probably damaging	Het
Cox20	A	G	1: 178,321,797	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,753,017	H407Q	probably benign	Het
Csmd1	T	C	8: 15,903,231	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,910,359	H700Q	probably null	Het
Dnah10	G	A	5: 124,770,599	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,785,175	T2165A	probably damaging	Het
Dock2	C	G	11: 34,294,123	M1072I	probably benign	Het
F11	T	A	8: 45,252,082	T141S	probably damaging	Het
Gabra6	T	A	11: 42,316,523	I245F	probably damaging	Het
Gm13101	T	A	4: 143,965,142	H337L	probably benign	Het
Gm8909	G	A	17: 36,167,507	A211V	possibly damaging	Het
Herc1	T	A	9: 66,433,423	C1685S	possibly damaging	Het
Il20	G	T	1: 130,910,740	D73E	probably damaging	Het
Ireb2	C	A	9: 54,886,527	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,588,378	I220V	probably benign	Het
Lce1j	T	G	3: 92,789,072	Q133P	unknown	Het
Lgals9	C	T	11: 78,963,505	A287T	probably benign	Het
Lrrc52	A	G	1: 167,466,727		probably benign	Het
Map3k5	A	T	10: 20,118,441	H1027L	probably benign	Het
Morc3	A	G	16: 93,862,425	D407G	possibly damaging	Het
Myom1	T	C	17: 71,108,695		probably null	Het
Ncapg2	T	C	12: 116,438,011	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,407,448	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,431,051	F298I	probably damaging	Het
Npas2	G	A	1: 39,287,476	R14Q	probably damaging	Het
Npas4	C	T	19: 4,986,870	C422Y	probably damaging	Het
Olfr1230	A	G	2: 89,296,421	L283S	probably damaging	Het
Olfr1381	T	A	11: 49,552,584	I279N	possibly damaging	Het
Olfr481	T	C	7: 108,081,286	V164A	probably benign	Het
Olfr749	T	C	14: 50,736,619	D181G	probably benign	Het
Pcdhga4	T	C	18: 37,686,493	I365T	probably damaging	Het
Pear1	T	A	3: 87,759,568	T37S	probably damaging	Het
Pkn2	A	T	3: 142,853,693	F24I	probably benign	Het
Plcb3	G	A	19: 6,966,165	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,730,133		probably null	Het
Psmb3	T	A	11: 97,712,452	F164I	probably damaging	Het
Ptch2	T	A	4: 117,096,908	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,387,781		probably benign	Het
Pusl1	A	G	4: 155,890,548	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,402,501	L35I	probably damaging	Het
Rictor	T	C	15: 6,793,977	L1545P	probably benign	Het
Rtn4r	A	T	16: 18,151,394	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,479,125		probably null	Het
Slc35b3	A	T	13: 38,944,596	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,398,697	V207A	possibly damaging	Het
Sox13	A	G	1: 133,393,267	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,137,403	L999R	probably damaging	Het
Taf4	A	G	2: 179,913,524	V1015A	probably damaging	Het
Top3b	T	C	16: 16,891,509	L687P	probably damaging	Het
Tpp2	T	A	1: 43,956,489	V268E	probably damaging	Het
Ttc6	T	C	12: 57,737,616	Y1824H	possibly damaging	Het
Vmn2r57	T	C	7: 41,428,690	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,065,881	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,022,038		probably null	Het
Zzz3	A	G	3: 152,427,682	I126V	possibly damaging	Het

Other mutations in Txk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02337:Txk	APN	5	72707546	missense	possibly damaging	0.94
IGL02602:Txk	APN	5	72707720	missense	possibly damaging	0.89
IGL03353:Txk	APN	5	72736402	missense	probably benign
BB007:Txk	UTSW	5	72735193	missense	probably damaging	1.00
BB017:Txk	UTSW	5	72735193	missense	probably damaging	1.00
R0402:Txk	UTSW	5	72731762	critical splice donor site	probably null
R1509:Txk	UTSW	5	72699110	missense	probably damaging	1.00
R1511:Txk	UTSW	5	72707671	missense	probably damaging	1.00
R1785:Txk	UTSW	5	72696579	missense	probably damaging	1.00
R1786:Txk	UTSW	5	72696579	missense	probably damaging	1.00
R2131:Txk	UTSW	5	72696579	missense	probably damaging	1.00
R2913:Txk	UTSW	5	72724451	missense	probably damaging	1.00
R2914:Txk	UTSW	5	72724451	missense	probably damaging	1.00
R3722:Txk	UTSW	5	72707735	nonsense	probably null
R4080:Txk	UTSW	5	72700663	missense	probably damaging	1.00
R5341:Txk	UTSW	5	72696621	missense	probably benign	0.08
R5580:Txk	UTSW	5	72707589	missense	probably damaging	1.00
R6310:Txk	UTSW	5	72736417	missense	probably benign	0.01
R6382:Txk	UTSW	5	72736480	intron	probably benign
R6938:Txk	UTSW	5	72699149	missense	probably damaging	0.99
R7225:Txk	UTSW	5	72700714	missense	probably damaging	1.00
R7327:Txk	UTSW	5	72715883	missense	probably damaging	0.98
R7337:Txk	UTSW	5	72731766	nonsense	probably null
R7436:Txk	UTSW	5	72696579	missense	probably damaging	1.00
R7510:Txk	UTSW	5	72736383	missense	unknown
R7709:Txk	UTSW	5	72707575	missense	probably damaging	1.00
R7725:Txk	UTSW	5	72707557	missense	probably damaging	0.96
R7930:Txk	UTSW	5	72735193	missense	probably damaging	1.00
R8124:Txk	UTSW	5	72703263	splice site	probably null
R8531:Txk	UTSW	5	72736377	missense	possibly damaging	0.73
R8754:Txk	UTSW	5	72731779	missense	probably damaging	1.00
R8901:Txk	UTSW	5	72700707	missense	probably damaging	1.00
R9245:Txk	UTSW	5	72734267	missense	probably damaging	1.00
Z1176:Txk	UTSW	5	72735211	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAGGCTGCCTTTGTAGC -3'
(R):5'- CAGTGTTGGGACTGTAGAACTG -3'

Sequencing Primer
(F):5'- GCCTTTGTAGCAAACCTAGCG -3'
(R):5'- TTTTCAGAGAGCCGGTGAAATCC -3'

Posted On

2017-10-10