Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Zap70'

366681

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

042416-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R4783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36800879-36821899 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36818254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 314 (Y314H)

Ref Sequence

ENSEMBL: ENSMUSP00000027291 (fasta)

Gene Model

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

AlphaFold

P43404

Predicted Effect

probably damaging
Transcript: ENSMUST00000027291
AA Change: Y314H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027291
Gene: ENSMUSG00000026117
AA Change: Y314H

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

0.0775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Git1	T	G	11: 77,390,663 (GRCm39)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rasal3	T	A	17: 32,615,755 (GRCm39)	D361V	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,532,472 (GRCm39)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	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
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
R5304:Zap70	UTSW	1	36,817,299 (GRCm39)	missense	probably damaging	0.99
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'- TGGGTACATCATGGCTTATGGC -3'
(R):5'- TTCATAAGCCCTCCTAGTGGG -3'

Sequencing Primer
(F):5'- GCTTATGGCCGTGTGTCTG -3'
(R):5'- GGTCCATGGCTCCTACAAC -3'

Posted On

2015-12-29