Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Zap70'

404386

Institutional Source

Beutler Lab

Gene Symbol

Zap70

Ensembl Gene

ENSMUSG00000026117

Gene Name

zeta-chain (TCR) associated protein kinase

Synonyms

ZAP-70, TZK, Srk

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36800879-36821899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36817299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 210 (H210L)

Ref Sequence

ENSEMBL: ENSMUSP00000027291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027291]

AlphaFold

P43404

Predicted Effect

probably damaging
Transcript: ENSMUST00000027291
AA Change: H210L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: H210L

Domain	Start	End	E-Value	Type
SH2	8	93	6.73e-25	SMART
SH2	161	245	1.59e-26	SMART
low complexity region	257	265	N/A	INTRINSIC
TyrKc	337	592	1e-128	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190128

Meta Mutation Damage Score

0.9624

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: This gene encodes a member of the protein tyrosine kinase family. The encoded protein is essential for development of T lymphocytes and thymocytes, and functions in the initial step of T lymphocyte receptor-mediated signal transduction. A mutation in this gene causes chronic autoimmune arthritis, similar to rheumatoid arthritis in humans. Mice lacking this gene are deficient in alpha-beta T lymphocytes in the thymus. In humans, mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T lymphocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mutant mice show T cell defects. Null mutants lack alpha-beta T cells in the thymus and have fewer T cells in dendritic and intestinal epithelium. Spontaneous and knock-in missense mutations affect T cell receptor signaling, one of the former resulting in severe chronic arthritis. [provided by MGI curators]

Allele List at MGI

All alleles(15) : Targeted, knock-out(2) Targeted, other(7) Gene trapped(1) Spontaneous(2) Chemically induced(3)

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	T	11: 7,014,198 (GRCm39)	A200V	probably benign	Het
Adgrv1	T	C	13: 81,726,372 (GRCm39)	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,144,538 (GRCm39)	V340A	probably damaging	Het
Amy1	C	A	3: 113,352,013 (GRCm39)	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,794,545 (GRCm39)	V310A	probably benign	Het
Arhgef15	T	C	11: 68,838,063 (GRCm39)	S686G	probably null	Het
Arid4b	T	A	13: 14,361,514 (GRCm39)	N659K	probably benign	Het
Asz1	C	T	6: 18,076,619 (GRCm39)	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,879,383 (GRCm39)	I947V	probably damaging	Het
AW011738	G	A	4: 156,287,969 (GRCm39)		probably benign	Het
Bfsp1	G	T	2: 143,669,211 (GRCm39)	T456K	probably benign	Het
Cdc25c	T	C	18: 34,883,864 (GRCm39)	T40A	possibly damaging	Het
Cdh20	G	A	1: 110,036,569 (GRCm39)	C583Y	probably damaging	Het
Ceacam23	A	C	7: 17,636,617 (GRCm39)	E231D	probably benign	Het
Cfap54	A	T	10: 92,656,968 (GRCm39)	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,975,213 (GRCm39)	S1088G	probably benign	Het
Chd1	A	T	17: 15,990,530 (GRCm39)	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,493,735 (GRCm39)	E580*	probably null	Het
Dip2a	A	T	10: 76,130,357 (GRCm39)	M622K	possibly damaging	Het
Dlgap1	A	T	17: 71,122,202 (GRCm39)	H877L	probably damaging	Het
Egfr	G	T	11: 16,834,260 (GRCm39)	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,048,704 (GRCm39)	D114E	probably damaging	Het
Eva1c	T	C	16: 90,666,551 (GRCm39)	L158P	probably damaging	Het
Exo1	G	A	1: 175,720,542 (GRCm39)	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,226,654 (GRCm39)	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,783,986 (GRCm39)	T8S	probably benign	Het
Fgfr2	G	T	7: 129,769,504 (GRCm39)	P630T	probably damaging	Het
Fmo5	G	A	3: 97,558,938 (GRCm39)	G466E	probably damaging	Het
Hcn4	A	G	9: 58,751,215 (GRCm39)	I280M	probably benign	Het
Ifi208	A	C	1: 173,511,174 (GRCm39)	K443T	probably benign	Het
Irs3	A	G	5: 137,643,003 (GRCm39)	F145S	probably benign	Het
Kirrel1	T	A	3: 86,996,902 (GRCm39)	H300L	probably benign	Het
Krit1	A	G	5: 3,869,326 (GRCm39)	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,445,149 (GRCm39)	D140G	unknown	Het
Lrrtm4	A	T	6: 79,999,683 (GRCm39)	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,160,004 (GRCm39)	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,053,154 (GRCm39)	S240R	possibly damaging	Het
Map3k5	A	G	10: 19,983,984 (GRCm39)	I870V	probably benign	Het
Matcap2	A	T	9: 22,335,528 (GRCm39)	T49S	probably benign	Het
Mmp17	A	T	5: 129,671,678 (GRCm39)	E76V	probably null	Het
Mphosph10	A	G	7: 64,038,732 (GRCm39)	F272L	probably damaging	Het
Mtcl2	G	A	2: 156,865,737 (GRCm39)	Q1127*	probably null	Het
Myh10	A	G	11: 68,655,071 (GRCm39)	K380R	probably damaging	Het
Myo3b	C	T	2: 70,257,232 (GRCm39)	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,682,238 (GRCm39)		probably benign	Het
Ola1	T	C	2: 73,029,778 (GRCm39)	I114V	probably damaging	Het
Or4c3d	T	A	2: 89,882,257 (GRCm39)	H137L	probably benign	Het
Or8k28	T	A	2: 86,285,779 (GRCm39)	T279S	probably damaging	Het
Pabpc4	T	G	4: 123,184,100 (GRCm39)	D204E	probably benign	Het
Pigr	A	T	1: 130,777,230 (GRCm39)	M679L	probably benign	Het
Pik3c2b	A	T	1: 132,998,146 (GRCm39)	M341L	possibly damaging	Het
Plin4	T	A	17: 56,413,132 (GRCm39)	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,562,459 (GRCm39)	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984 (GRCm39)	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,468,050 (GRCm39)		probably null	Het
Rapgef6	T	C	11: 54,548,200 (GRCm39)	S505P	probably benign	Het
Rgmb	G	T	17: 16,040,990 (GRCm39)	S199*	probably null	Het
Rgsl1	T	C	1: 153,703,238 (GRCm39)	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,105,742 (GRCm39)	K102N	probably damaging	Het
Ripor2	A	T	13: 24,858,649 (GRCm39)	D147V	probably damaging	Het
Rsad2	A	T	12: 26,500,681 (GRCm39)	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,629,141 (GRCm39)	N186S	probably damaging	Het
Sorbs3	G	A	14: 70,422,345 (GRCm39)	R622*	probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Srgap3	T	C	6: 112,743,900 (GRCm39)	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,605,980 (GRCm39)	R574*	probably null	Het
Tmem74	A	T	15: 43,730,217 (GRCm39)	Y275*	probably null	Het
Topors	A	T	4: 40,262,541 (GRCm39)	S248T	possibly damaging	Het
Trpm1	A	T	7: 63,858,694 (GRCm39)	Y239F	probably benign	Het
Ttn	T	A	2: 76,548,527 (GRCm39)	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 87,040,724 (GRCm39)	F399L	probably damaging	Het
Ush2a	A	T	1: 188,088,995 (GRCm39)	I317F	probably damaging	Het
Usp1	T	C	4: 98,822,855 (GRCm39)	V723A	probably benign	Het
Usp34	T	G	11: 23,293,616 (GRCm39)	L237V	probably damaging	Het
Vgf	A	T	5: 137,061,140 (GRCm39)	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,628,100 (GRCm39)	N97S	probably benign	Het
Vps13a	A	G	19: 16,687,751 (GRCm39)	L899P	possibly damaging	Het
Vps33b	A	T	7: 79,924,001 (GRCm39)	I41F	probably damaging	Het
Zc3h8	T	C	2: 128,770,835 (GRCm39)	D300G	probably benign	Het
Zfp958	C	A	8: 4,676,196 (GRCm39)	H55N	possibly damaging	Het

Other mutations in Zap70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
mrtless	APN	1	36,820,230 (GRCm39)	missense	probably damaging	1.00
murdock	APN	1	36,818,785 (GRCm39)	missense	probably damaging	0.99
IGL00763:Zap70	APN	1	36,818,333 (GRCm39)	missense	possibly damaging	0.81
IGL01635:Zap70	APN	1	36,810,238 (GRCm39)	missense	probably damaging	0.99
IGL01918:Zap70	APN	1	36,817,868 (GRCm39)	missense	possibly damaging	0.64
IGL02164:Zap70	APN	1	36,810,267 (GRCm39)	missense	probably damaging	0.99
IGL02502:Zap70	APN	1	36,817,887 (GRCm39)	splice site	probably benign
IGL02597:Zap70	APN	1	36,811,001 (GRCm39)	nonsense	probably null
IGL03026:Zap70	APN	1	36,818,798 (GRCm39)	missense	possibly damaging	0.94
biscayne	UTSW	1	36,820,493 (GRCm39)	missense	probably damaging	1.00
mesa_verde	UTSW	1	36,818,254 (GRCm39)	missense	probably damaging	1.00
shazzam	UTSW	1	36,820,218 (GRCm39)	missense	probably damaging	1.00
trebia	UTSW	1	36,820,106 (GRCm39)	missense	probably damaging	1.00
wanna	UTSW	1	36,810,064 (GRCm39)	missense	probably damaging	1.00
wanna2	UTSW	1	36,820,493 (GRCm39)	missense	probably damaging	1.00
wanna3	UTSW	1	36,817,299 (GRCm39)	missense	probably damaging	0.99
wanna4	UTSW	1	36,820,446 (GRCm39)	missense	probably damaging	1.00
want_to	UTSW	1	36,821,598 (GRCm39)	missense	probably damaging	1.00
waterfowl	UTSW	1	36,809,892 (GRCm39)	start codon destroyed	probably null	0.03
zapatos	UTSW	1	36,810,262 (GRCm39)	missense	possibly damaging	0.89
zipper	UTSW	1	36,809,983 (GRCm39)	missense	probably benign	0.09
PIT1430001:Zap70	UTSW	1	36,818,250 (GRCm39)	missense	possibly damaging	0.95
R0487:Zap70	UTSW	1	36,818,365 (GRCm39)	missense	probably damaging	1.00
R0701:Zap70	UTSW	1	36,820,258 (GRCm39)	missense	probably damaging	1.00
R0960:Zap70	UTSW	1	36,818,254 (GRCm39)	missense	probably damaging	1.00
R1520:Zap70	UTSW	1	36,810,036 (GRCm39)	missense	probably damaging	1.00
R2064:Zap70	UTSW	1	36,818,215 (GRCm39)	missense	probably benign
R3623:Zap70	UTSW	1	36,818,216 (GRCm39)	missense	probably benign	0.03
R3689:Zap70	UTSW	1	36,820,493 (GRCm39)	missense	probably damaging	1.00
R3690:Zap70	UTSW	1	36,820,493 (GRCm39)	missense	probably damaging	1.00
R3804:Zap70	UTSW	1	36,810,223 (GRCm39)	missense	possibly damaging	0.58
R3840:Zap70	UTSW	1	36,817,498 (GRCm39)	missense	probably damaging	1.00
R4260:Zap70	UTSW	1	36,818,189 (GRCm39)	splice site	probably benign
R4383:Zap70	UTSW	1	36,820,042 (GRCm39)	missense	probably damaging	1.00
R4632:Zap70	UTSW	1	36,817,539 (GRCm39)	missense	probably benign
R4783:Zap70	UTSW	1	36,818,254 (GRCm39)	missense	probably damaging	1.00
R5051:Zap70	UTSW	1	36,820,532 (GRCm39)	missense	probably benign	0.00
R5271:Zap70	UTSW	1	36,820,446 (GRCm39)	missense	probably damaging	1.00
R5792:Zap70	UTSW	1	36,818,090 (GRCm39)	intron	probably benign
R5932:Zap70	UTSW	1	36,820,227 (GRCm39)	missense	probably damaging	1.00
R5941:Zap70	UTSW	1	36,810,030 (GRCm39)	missense	probably damaging	1.00
R6694:Zap70	UTSW	1	36,821,598 (GRCm39)	missense	probably damaging	1.00
R6825:Zap70	UTSW	1	36,817,471 (GRCm39)	missense	probably damaging	1.00
R7039:Zap70	UTSW	1	36,817,832 (GRCm39)	missense	probably benign
R7704:Zap70	UTSW	1	36,818,395 (GRCm39)	critical splice donor site	probably null
R7769:Zap70	UTSW	1	36,809,983 (GRCm39)	missense	probably benign	0.09
R8115:Zap70	UTSW	1	36,820,287 (GRCm39)	missense	probably damaging	1.00
R8140:Zap70	UTSW	1	36,810,262 (GRCm39)	missense	possibly damaging	0.89
R8289:Zap70	UTSW	1	36,820,218 (GRCm39)	missense	probably damaging	1.00
R9186:Zap70	UTSW	1	36,818,832 (GRCm39)	missense	possibly damaging	0.66
R9540:Zap70	UTSW	1	36,817,869 (GRCm39)	missense	possibly damaging	0.95
R9654:Zap70	UTSW	1	36,818,327 (GRCm39)	missense	probably benign	0.03
R9674:Zap70	UTSW	1	36,810,150 (GRCm39)	missense	probably benign	0.10
S24628:Zap70	UTSW	1	36,809,892 (GRCm39)	start codon destroyed	probably null	0.03
Z1176:Zap70	UTSW	1	36,818,257 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGAGATTCTGGGTATGGAGCC -3'
(R):5'- TGGGACAGACCTCCTTCAAG -3'

Sequencing Primer
(F):5'- GCCCATAGCATGTGTGTTAGTACC -3'
(R):5'- GCGGTAAATTAGTCCATCCGC -3'

Posted On

2016-07-22