Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Txk'

562085

Institutional Source

Beutler Lab

Gene Symbol

Txk

Ensembl Gene

ENSMUSG00000054892

Gene Name

TXK tyrosine kinase

Synonyms

A130089B16Rik, PTK4, Btkl, Rlk

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72695978-72752777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72700714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 418 (D418N)

Ref Sequence

ENSEMBL: ENSMUSP00000109234 (fasta)

Gene Model

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

AlphaFold

P42682

Predicted Effect

probably damaging
Transcript: ENSMUST00000113604
AA Change: D418N

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

SMART Domains

Protein: ENSMUSP00000109234
Gene: ENSMUSG00000054892
AA Change: D418N

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: D418N

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

SMART Domains

Protein: ENSMUSP00000129397
Gene: ENSMUSG00000054892
AA Change: D418N

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

possibly damaging
Transcript: ENSMUST00000197313
AA Change: D396N

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143476
Gene: ENSMUSG00000054892
AA Change: D396N

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

probably damaging
Transcript: ENSMUST00000198464
AA Change: D364N

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

SMART Domains

Protein: ENSMUSP00000143002
Gene: ENSMUSG00000054892
AA Change: D364N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	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
R6155:Txk	UTSW	5	72700726	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
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'- CAGGGCTATACAGAGAAACCCTG -3'
(R):5'- ACCTGGTTCTAGAGGAGAAAAC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- GGCTGTTTTAGCAGATCC -3'

Posted On

2019-06-26