Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01870:Jak3'

178670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

fae; wil

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.794) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

71676296-71690575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71680790 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 376 (P376S)

Ref Sequence

ENSEMBL: ENSMUSP00000105640 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000051995
AA Change: P376S

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

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: P376S

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: P376S

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

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: P376S

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: P376S

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

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: P376S

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,381,327	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,618,242	K300E	probably damaging	Het
Cma2	C	A	14: 55,973,737	S162Y	probably benign	Het
Cntn4	A	G	6: 106,489,715	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,952,528	M556L	probably benign	Het
Dld	A	G	12: 31,335,467	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,032,569	D3746E	probably benign	Het
Eea1	A	G	10: 95,973,986	T9A	probably damaging	Het
Fam102a	T	C	2: 32,566,282	S319P	probably benign	Het
Gbf1	A	G	19: 46,285,669	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm12794	T	A	4: 101,940,690	L95H	probably benign	Het
H2-M1	A	T	17: 36,670,063	M327K	probably benign	Het
Ifnz	T	A	4: 88,783,311	S176T	possibly damaging	Het
Irak4	T	C	15: 94,547,870	Y10H	probably benign	Het
Irx5	T	C	8: 92,359,777	F163L	probably damaging	Het
Lrrc25	T	C	8: 70,617,787	S73P	possibly damaging	Het
Macf1	C	T	4: 123,474,113	G2285D	probably damaging	Het
Muc4	A	T	16: 32,753,196	T1025S	probably benign	Het
Mylk2	A	G	2: 152,915,214	N303S	probably benign	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Pcnx	T	C	12: 81,975,893	V1512A	probably benign	Het
Phlda3	A	G	1: 135,766,638	S64G	probably benign	Het
Pptc7	C	A	5: 122,313,602	S40R	probably damaging	Het
Ptpn4	A	C	1: 119,675,547		probably null	Het
Slc10a1	T	C	12: 80,960,528	M160V	probably benign	Het
Stac	T	C	9: 111,572,332	I349V	probably benign	Het
Synm	A	G	7: 67,736,118	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,162,088	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,624,477	V883I	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Whamm	C	T	7: 81,595,974	T726I	probably damaging	Het

Other mutations in Jak3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Jak3	APN	8	71681697	splice site	probably benign
IGL00720:Jak3	APN	8	71684037	missense	probably damaging	1.00
IGL00966:Jak3	APN	8	71679012	missense	probably benign	0.24
IGL01147:Jak3	APN	8	71683403	missense	probably benign
IGL01308:Jak3	APN	8	71685166	missense	probably damaging	1.00
IGL01328:Jak3	APN	8	71679620	missense	probably damaging	1.00
IGL01386:Jak3	APN	8	71684289	missense	probably damaging	1.00
IGL01515:Jak3	APN	8	71680562	splice site	probably null
IGL02132:Jak3	APN	8	71678480	missense	probably damaging	0.99
IGL02413:Jak3	APN	8	71686119	unclassified	probably null
IGL02752:Jak3	APN	8	71682951	missense	possibly damaging	0.50
IGL03089:Jak3	APN	8	71686083	missense	probably benign	0.15
IGL03177:Jak3	APN	8	71682370	missense	probably damaging	1.00
citron	UTSW	8	71686976	splice site	probably benign
daniels	UTSW	8	71681655	missense	possibly damaging	0.48
Deposuit	UTSW	8	71685404	missense	probably damaging	1.00
distortion	UTSW	8	71683978	missense	probably damaging	1.00
Downcast	UTSW	8	71685511	missense	probably benign	0.07
fake_news	UTSW	8	71685957	missense	probably damaging	1.00
Implevit	UTSW	8	71678773	missense	probably benign
mount_tai	UTSW	8	71683377	missense	probably damaging	1.00
potentes	UTSW	8	71686058	missense	probably damaging	0.99
thistle	UTSW	8	71685383	critical splice acceptor site	probably null
thistle2	UTSW	8	71685545	missense	probably damaging	1.00
PIT4403001:Jak3	UTSW	8	71684349	missense	probably benign	0.00
PIT4515001:Jak3	UTSW	8	71679642	missense	probably benign	0.21
R0013:Jak3	UTSW	8	71684327	missense	probably damaging	0.98
R0496:Jak3	UTSW	8	71682397	missense	probably damaging	1.00
R0522:Jak3	UTSW	8	71682274	splice site	probably benign
R0531:Jak3	UTSW	8	71686976	splice site	probably benign
R0538:Jak3	UTSW	8	71685482	missense	probably benign
R0612:Jak3	UTSW	8	71683377	missense	probably damaging	1.00
R0744:Jak3	UTSW	8	71683978	missense	probably damaging	1.00
R0833:Jak3	UTSW	8	71683978	missense	probably damaging	1.00
R0836:Jak3	UTSW	8	71683978	missense	probably damaging	1.00
R1183:Jak3	UTSW	8	71684550	missense	probably damaging	1.00
R1420:Jak3	UTSW	8	71681538	missense	possibly damaging	0.75
R1793:Jak3	UTSW	8	71685946	splice site	probably benign
R1967:Jak3	UTSW	8	71681535	missense	probably damaging	1.00
R1983:Jak3	UTSW	8	71678375	missense	possibly damaging	0.95
R1983:Jak3	UTSW	8	71688136	missense	probably benign
R2058:Jak3	UTSW	8	71685383	critical splice acceptor site	probably null
R2060:Jak3	UTSW	8	71680714	nonsense	probably null
R2060:Jak3	UTSW	8	71683415	nonsense	probably null
R3705:Jak3	UTSW	8	71681522	missense	probably damaging	1.00
R3734:Jak3	UTSW	8	71676581	unclassified	probably benign
R4231:Jak3	UTSW	8	71685545	missense	probably damaging	1.00
R4596:Jak3	UTSW	8	71684631	missense	probably damaging	0.99
R4844:Jak3	UTSW	8	71681655	missense	possibly damaging	0.48
R4897:Jak3	UTSW	8	71685404	missense	probably damaging	1.00
R5038:Jak3	UTSW	8	71686058	missense	probably damaging	0.99
R5469:Jak3	UTSW	8	71678773	missense	probably benign
R5538:Jak3	UTSW	8	71678773	missense	probably benign
R5718:Jak3	UTSW	8	71684354	missense	probably damaging	1.00
R5799:Jak3	UTSW	8	71678700	missense	probably damaging	1.00
R5909:Jak3	UTSW	8	71684231	missense	possibly damaging	0.68
R5959:Jak3	UTSW	8	71682071	missense	probably damaging	1.00
R6260:Jak3	UTSW	8	71679310	missense	probably benign	0.00
R6798:Jak3	UTSW	8	71680971	missense	probably damaging	0.99
R7013:Jak3	UTSW	8	71678781	missense	possibly damaging	0.88
R7070:Jak3	UTSW	8	71684611	missense	probably damaging	1.00
R7122:Jak3	UTSW	8	71685957	missense	probably damaging	1.00
R7166:Jak3	UTSW	8	71682316	missense	probably damaging	1.00
R7225:Jak3	UTSW	8	71685511	missense	probably benign	0.07
R7440:Jak3	UTSW	8	71680718	missense	probably benign	0.02
R7489:Jak3	UTSW	8	71684292	missense	probably damaging	1.00
R7773:Jak3	UTSW	8	71679042	missense	probably benign
R7779:Jak3	UTSW	8	71687288	missense	probably benign	0.01
Z1176:Jak3	UTSW	8	71680683	missense	possibly damaging	0.93

Posted On

2014-05-07