Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01308:Jak3'

73521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

IGL01308

Quality Score

Status

Chromosome

Chromosomal Location

72129027-72143221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72137810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 780 (D780V)

Ref Sequence

ENSEMBL: ENSMUSP00000105640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034261] [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034261

SMART Domains

Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
IlGF	26	120	2.46e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000051995
AA Change: D780V

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

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: D780V

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110012
AA Change: D780V

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

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: D780V

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110013
AA Change: D780V

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

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: D780V

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133263

Coding Region Coverage

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 is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired B cell development, small thymi and T cell proliferate. Point mutation homozygotes develop autoimmune inflammatory bowel disease, decreased susceptibility to malaria infection and/or increased susceptibility to bacterial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,748,997 (GRCm39)	D1256G	probably damaging	Het
Acot7	A	T	4: 152,345,353 (GRCm39)	M308L	probably benign	Het
Adarb2	A	G	13: 8,253,329 (GRCm39)	R25G	possibly damaging	Het
Ano1	C	A	7: 144,149,235 (GRCm39)	Q875H	probably damaging	Het
Ano6	G	A	15: 95,811,542 (GRCm39)		probably null	Het
Defa40	C	T	8: 21,740,434 (GRCm39)	T80I	probably damaging	Het
Efcab3	A	T	11: 104,611,523 (GRCm39)	D455V	probably benign	Het
Ehbp1	G	A	11: 22,088,022 (GRCm39)	P354L	probably damaging	Het
Eml5	T	C	12: 98,768,572 (GRCm39)	H1454R	probably damaging	Het
Esyt1	T	A	10: 128,355,660 (GRCm39)	N421Y	possibly damaging	Het
Gen1	T	C	12: 11,306,871 (GRCm39)	T100A	probably damaging	Het
Klrb1a	A	G	6: 128,595,008 (GRCm39)		probably benign	Het
Lrp8	A	G	4: 107,721,273 (GRCm39)	I826M	probably benign	Het
Mcmbp	G	A	7: 128,316,209 (GRCm39)	Q214*	probably null	Het
Mtmr7	A	T	8: 41,050,388 (GRCm39)	Y136N	probably damaging	Het
Ndor1	A	G	2: 25,140,151 (GRCm39)	Y88H	probably benign	Het
Nkx2-4	A	G	2: 146,926,260 (GRCm39)	Y201H	possibly damaging	Het
Or3a1d	A	G	11: 74,237,486 (GRCm39)	L308P	probably damaging	Het
Or52n4b	T	A	7: 108,143,933 (GRCm39)	L65*	probably null	Het
Or6c5	A	T	10: 129,074,476 (GRCm39)	T153S	probably benign	Het
Pigg	T	C	5: 108,484,343 (GRCm39)	L663P	probably damaging	Het
Pik3cd	A	G	4: 149,741,917 (GRCm39)	V343A	probably damaging	Het
Plekha4	A	G	7: 45,187,659 (GRCm39)	S244G	probably damaging	Het
Prkce	T	A	17: 86,932,890 (GRCm39)	D623E	probably damaging	Het
Rasgrf2	A	G	13: 92,159,425 (GRCm39)		probably benign	Het
Rexo5	T	C	7: 119,433,499 (GRCm39)	W419R	probably damaging	Het
Rnaseh2b	A	G	14: 62,602,706 (GRCm39)		probably null	Het
Rras	A	G	7: 44,670,709 (GRCm39)	Y193C	possibly damaging	Het
Sall4	T	C	2: 168,592,164 (GRCm39)	I997V	probably damaging	Het
Sec31b	A	G	19: 44,512,122 (GRCm39)	F591L	probably benign	Het
Skic2	A	G	17: 35,059,610 (GRCm39)	L232P	probably benign	Het
Slc13a3	A	T	2: 165,248,700 (GRCm39)	I526N	probably damaging	Het
Slc6a11	C	T	6: 114,111,626 (GRCm39)	T103M	probably damaging	Het
Snrnp25	A	G	11: 32,158,745 (GRCm39)		probably benign	Het
Tex264	T	C	9: 106,539,607 (GRCm39)	K201E	possibly damaging	Het
Tgfb1	G	T	7: 25,387,442 (GRCm39)	R50L	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Tmed1	A	T	9: 21,421,338 (GRCm39)	C45*	probably null	Het
Tmem260	A	G	14: 48,749,415 (GRCm39)	N638S	probably damaging	Het
Traf3ip3	T	C	1: 192,867,199 (GRCm39)	E274G	probably damaging	Het
Trak1	T	C	9: 121,272,802 (GRCm39)		probably null	Het
Trim3	A	T	7: 105,266,676 (GRCm39)	V502E	probably damaging	Het
Trmo	C	T	4: 46,377,053 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,666,332 (GRCm39)	R192Q	probably benign	Het

Other mutations in Jak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Jak3	APN	8	72,134,341 (GRCm39)	splice site	probably benign
IGL00720:Jak3	APN	8	72,136,681 (GRCm39)	missense	probably damaging	1.00
IGL00966:Jak3	APN	8	72,131,656 (GRCm39)	missense	probably benign	0.24
IGL01147:Jak3	APN	8	72,136,047 (GRCm39)	missense	probably benign
IGL01328:Jak3	APN	8	72,132,264 (GRCm39)	missense	probably damaging	1.00
IGL01386:Jak3	APN	8	72,136,933 (GRCm39)	missense	probably damaging	1.00
IGL01515:Jak3	APN	8	72,133,206 (GRCm39)	splice site	probably null
IGL01870:Jak3	APN	8	72,133,434 (GRCm39)	missense	probably damaging	1.00
IGL02132:Jak3	APN	8	72,131,124 (GRCm39)	missense	probably damaging	0.99
IGL02413:Jak3	APN	8	72,138,763 (GRCm39)	splice site	probably null
IGL02752:Jak3	APN	8	72,135,595 (GRCm39)	missense	possibly damaging	0.50
IGL03089:Jak3	APN	8	72,138,727 (GRCm39)	missense	probably benign	0.15
IGL03177:Jak3	APN	8	72,135,014 (GRCm39)	missense	probably damaging	1.00
barbed	UTSW	8	72,131,425 (GRCm39)	missense	possibly damaging	0.88
beanstalk	UTSW	8	72,139,932 (GRCm39)	missense	probably benign	0.01
Bonis	UTSW	8	72,131,898 (GRCm39)	missense	probably benign	0.05
citron	UTSW	8	72,139,620 (GRCm39)	splice site	probably benign
corrupt	UTSW	8	72,136,696 (GRCm39)	missense	probably damaging	1.00
daniels	UTSW	8	72,134,299 (GRCm39)	missense	possibly damaging	0.48
Deposuit	UTSW	8	72,138,048 (GRCm39)	missense	probably damaging	1.00
distortion	UTSW	8	72,136,622 (GRCm39)	missense	probably damaging	1.00
Downcast	UTSW	8	72,138,155 (GRCm39)	missense	probably benign	0.07
fake_news	UTSW	8	72,138,601 (GRCm39)	missense	probably damaging	1.00
Implevit	UTSW	8	72,131,417 (GRCm39)	missense	probably benign
mount_tai	UTSW	8	72,136,021 (GRCm39)	missense	probably damaging	1.00
potentes	UTSW	8	72,138,702 (GRCm39)	missense	probably damaging	0.99
Riot	UTSW	8	72,134,960 (GRCm39)	missense	probably damaging	1.00
thistle	UTSW	8	72,138,027 (GRCm39)	critical splice acceptor site	probably null
thistle2	UTSW	8	72,138,189 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Jak3	UTSW	8	72,136,993 (GRCm39)	missense	probably benign	0.00
PIT4515001:Jak3	UTSW	8	72,132,286 (GRCm39)	missense	probably benign	0.21
R0013:Jak3	UTSW	8	72,136,971 (GRCm39)	missense	probably damaging	0.98
R0496:Jak3	UTSW	8	72,135,041 (GRCm39)	missense	probably damaging	1.00
R0522:Jak3	UTSW	8	72,134,918 (GRCm39)	splice site	probably benign
R0531:Jak3	UTSW	8	72,139,620 (GRCm39)	splice site	probably benign
R0538:Jak3	UTSW	8	72,138,126 (GRCm39)	missense	probably benign
R0612:Jak3	UTSW	8	72,136,021 (GRCm39)	missense	probably damaging	1.00
R0744:Jak3	UTSW	8	72,136,622 (GRCm39)	missense	probably damaging	1.00
R0833:Jak3	UTSW	8	72,136,622 (GRCm39)	missense	probably damaging	1.00
R0836:Jak3	UTSW	8	72,136,622 (GRCm39)	missense	probably damaging	1.00
R1183:Jak3	UTSW	8	72,137,194 (GRCm39)	missense	probably damaging	1.00
R1420:Jak3	UTSW	8	72,134,182 (GRCm39)	missense	possibly damaging	0.75
R1793:Jak3	UTSW	8	72,138,590 (GRCm39)	splice site	probably benign
R1967:Jak3	UTSW	8	72,134,179 (GRCm39)	missense	probably damaging	1.00
R1983:Jak3	UTSW	8	72,140,780 (GRCm39)	missense	probably benign
R1983:Jak3	UTSW	8	72,131,019 (GRCm39)	missense	possibly damaging	0.95
R2058:Jak3	UTSW	8	72,138,027 (GRCm39)	critical splice acceptor site	probably null
R2060:Jak3	UTSW	8	72,136,059 (GRCm39)	nonsense	probably null
R2060:Jak3	UTSW	8	72,133,358 (GRCm39)	nonsense	probably null
R3705:Jak3	UTSW	8	72,134,166 (GRCm39)	missense	probably damaging	1.00
R3734:Jak3	UTSW	8	72,129,225 (GRCm39)	unclassified	probably benign
R4231:Jak3	UTSW	8	72,138,189 (GRCm39)	missense	probably damaging	1.00
R4596:Jak3	UTSW	8	72,137,275 (GRCm39)	missense	probably damaging	0.99
R4844:Jak3	UTSW	8	72,134,299 (GRCm39)	missense	possibly damaging	0.48
R4897:Jak3	UTSW	8	72,138,048 (GRCm39)	missense	probably damaging	1.00
R5038:Jak3	UTSW	8	72,138,702 (GRCm39)	missense	probably damaging	0.99
R5469:Jak3	UTSW	8	72,131,417 (GRCm39)	missense	probably benign
R5538:Jak3	UTSW	8	72,131,417 (GRCm39)	missense	probably benign
R5718:Jak3	UTSW	8	72,136,998 (GRCm39)	missense	probably damaging	1.00
R5799:Jak3	UTSW	8	72,131,344 (GRCm39)	missense	probably damaging	1.00
R5909:Jak3	UTSW	8	72,136,875 (GRCm39)	missense	possibly damaging	0.68
R5959:Jak3	UTSW	8	72,134,715 (GRCm39)	missense	probably damaging	1.00
R6260:Jak3	UTSW	8	72,131,954 (GRCm39)	missense	probably benign	0.00
R6798:Jak3	UTSW	8	72,133,615 (GRCm39)	missense	probably damaging	0.99
R7013:Jak3	UTSW	8	72,131,425 (GRCm39)	missense	possibly damaging	0.88
R7070:Jak3	UTSW	8	72,137,255 (GRCm39)	missense	probably damaging	1.00
R7122:Jak3	UTSW	8	72,138,601 (GRCm39)	missense	probably damaging	1.00
R7166:Jak3	UTSW	8	72,134,960 (GRCm39)	missense	probably damaging	1.00
R7225:Jak3	UTSW	8	72,138,155 (GRCm39)	missense	probably benign	0.07
R7440:Jak3	UTSW	8	72,133,362 (GRCm39)	missense	probably benign	0.02
R7489:Jak3	UTSW	8	72,136,936 (GRCm39)	missense	probably damaging	1.00
R7773:Jak3	UTSW	8	72,131,686 (GRCm39)	missense	probably benign
R7779:Jak3	UTSW	8	72,139,932 (GRCm39)	missense	probably benign	0.01
R8511:Jak3	UTSW	8	72,138,194 (GRCm39)	missense	probably damaging	1.00
R8808:Jak3	UTSW	8	72,138,164 (GRCm39)	missense	possibly damaging	0.71
R8859:Jak3	UTSW	8	72,131,160 (GRCm39)	missense	probably benign	0.37
R9079:Jak3	UTSW	8	72,131,898 (GRCm39)	missense	probably benign	0.05
R9320:Jak3	UTSW	8	72,134,265 (GRCm39)	missense	probably benign	0.03
R9389:Jak3	UTSW	8	72,136,696 (GRCm39)	missense	probably damaging	1.00
R9664:Jak3	UTSW	8	72,131,366 (GRCm39)	missense	probably damaging	1.00
Z1176:Jak3	UTSW	8	72,133,327 (GRCm39)	missense	possibly damaging	0.93

Posted On

2013-10-07