Mutagenetix > Incidental Mutation

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

72129027-72143221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72133434 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	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
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

2014-05-07