Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03177:Jak3'

412039

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: 0.702) question?

Stock #

IGL03177

Quality Score

Status

Chromosome

Chromosomal Location

72129027-72143221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72135014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 549 (V549D)

Ref Sequence

ENSEMBL: ENSMUSP00000105640 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051995
AA Change: V549D

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

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: V549D

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: V549D

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

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: V549D

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: V549D

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

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: V549D

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	T	C	X: 159,221,259 (GRCm39)	I23T	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anxa7	T	C	14: 20,506,654 (GRCm39)	I451V	probably benign	Het
Capn10	T	C	1: 92,862,704 (GRCm39)	F37L	probably benign	Het
Cyp4f13	A	G	17: 33,165,888 (GRCm39)	I30T	possibly damaging	Het
Ddx27	A	G	2: 166,869,840 (GRCm39)	N392D	possibly damaging	Het
Dhx30	T	C	9: 109,917,078 (GRCm39)	H479R	possibly damaging	Het
Dnah5	A	G	15: 28,295,545 (GRCm39)	Y1426C	probably damaging	Het
Dnajc2	A	G	5: 21,980,079 (GRCm39)		probably benign	Het
Fbxw8	C	A	5: 118,267,045 (GRCm39)		probably benign	Het
Grik5	G	A	7: 24,714,879 (GRCm39)	T705I	probably damaging	Het
H2ac4	T	A	13: 23,935,509 (GRCm39)		probably benign	Het
H2-M3	G	T	17: 37,581,207 (GRCm39)	V19F	possibly damaging	Het
Hapln2	C	A	3: 87,930,078 (GRCm39)	C266F	probably damaging	Het
Hspbp1	A	T	7: 4,667,700 (GRCm39)		probably null	Het
Mark1	A	G	1: 184,677,104 (GRCm39)	S49P	probably damaging	Het
Mdfic	T	C	6: 15,770,450 (GRCm39)	V152A	probably damaging	Het
Mgat4a	C	A	1: 37,483,968 (GRCm39)	V501L	probably damaging	Het
Mlxip	C	A	5: 123,584,044 (GRCm39)	P536T	possibly damaging	Het
Mrpl2	A	T	17: 46,959,963 (GRCm39)	T213S	probably damaging	Het
Nos1ap	C	A	1: 170,218,299 (GRCm39)		probably null	Het
Or4a74	C	T	2: 89,439,826 (GRCm39)	V207I	probably benign	Het
Or6c1b	T	C	10: 129,272,684 (GRCm39)	M1T	probably null	Het
Or8b50	T	A	9: 38,517,867 (GRCm39)	Y35*	probably null	Het
P2rx2	T	C	5: 110,489,479 (GRCm39)	I251V	probably damaging	Het
Parva	T	A	7: 112,172,140 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,166,493 (GRCm39)	T459I	probably damaging	Het
Prg4	T	A	1: 150,331,354 (GRCm39)		probably benign	Het
Pum3	A	T	19: 27,367,612 (GRCm39)	I639N	probably benign	Het
Rlf	T	A	4: 121,005,276 (GRCm39)	K1235*	probably null	Het
Ryr3	T	A	2: 112,859,016 (GRCm39)	I46F	probably benign	Het
Sall3	A	G	18: 81,016,183 (GRCm39)	S582P	probably benign	Het
Scn3b	A	C	9: 40,181,338 (GRCm39)	Y17S	probably benign	Het
Senp8	A	G	9: 59,644,611 (GRCm39)	C169R	probably damaging	Het
Sgsm1	C	T	5: 113,398,859 (GRCm39)	A1025T	probably damaging	Het
Six1	T	C	12: 73,090,514 (GRCm39)	E217G	possibly damaging	Het
Slc38a8	T	C	8: 120,212,251 (GRCm39)	D364G	probably damaging	Het
Stk10	A	T	11: 32,564,592 (GRCm39)	E801V	probably damaging	Het
Ston2	A	T	12: 91,614,431 (GRCm39)	I659N	probably damaging	Het
Stxbp4	T	C	11: 90,462,579 (GRCm39)	Q331R	probably benign	Het
Synpo2	A	T	3: 122,914,864 (GRCm39)	V54E	probably damaging	Het
Tax1bp1	A	G	6: 52,713,932 (GRCm39)	D237G	possibly damaging	Het
Tmigd1	T	C	11: 76,797,774 (GRCm39)	Y39H	probably benign	Het
Vmn1r15	A	G	6: 57,235,458 (GRCm39)	T109A	probably benign	Het
Vmn1r209	T	C	13: 22,990,024 (GRCm39)	Y222C	possibly damaging	Het
Zfp809	A	G	9: 22,146,347 (GRCm39)	D12G	probably damaging	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
IGL01308:Jak3	APN	8	72,137,810 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02