Mutagenetix > Incidental Mutation

Incidental Mutation 'R3734:Jak3'

270006

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

MMRRC Submission

040721-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R3734 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

72129027-72143221 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 72129225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013] [ENSMUST00000177517]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030170

SMART Domains

Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.3e-53	PFAM
C2	1555	1661	5.03e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051995

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805

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

unknown
Transcript: ENSMUST00000066837
AA Change: A28S

SMART Domains

Protein: ENSMUSP00000065019
Gene: ENSMUSG00000054044
AA Change: A28S

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110012

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805

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 benign
Transcript: ENSMUST00000110013

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176777

Predicted Effect

probably benign
Transcript: ENSMUST00000177517

SMART Domains

Protein: ENSMUSP00000135189
Gene: ENSMUSG00000034799

Domain	Start	End	E-Value	Type
C2	3	94	5.23e-10	SMART
low complexity region	187	202	N/A	INTRINSIC
low complexity region	264	277	N/A	INTRINSIC
low complexity region	299	310	N/A	INTRINSIC
coiled coil region	321	359	N/A	INTRINSIC
low complexity region	412	430	N/A	INTRINSIC
low complexity region	435	450	N/A	INTRINSIC
PDB:2KDU\|B	454	488	3e-16	PDB
C1	563	612	3.93e-18	SMART
C2	686	793	5.86e-22	SMART
DUF1041	1002	1111	1.6e-56	SMART
Pfam:Membr_traf_MHD	1355	1520	6.7e-53	PFAM
C2	1574	1680	5.03e-12	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

95% (41/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Blvra	A	T	2: 126,932,175 (GRCm39)		probably benign	Het
Ccdc87	G	T	19: 4,891,951 (GRCm39)	W814C	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Dsg2	T	C	18: 20,735,004 (GRCm39)	V994A	probably benign	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eps8l2	A	C	7: 140,937,734 (GRCm39)	Y418S	probably damaging	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Fcgr3	T	C	1: 170,885,443 (GRCm39)	M60V	probably benign	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Golga1	G	T	2: 38,940,182 (GRCm39)	Q141K	possibly damaging	Het
Ift122	A	G	6: 115,902,462 (GRCm39)		probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itga1	T	C	13: 115,114,175 (GRCm39)	H910R	probably benign	Het
Jrkl	A	G	9: 13,245,535 (GRCm39)	V42A	possibly damaging	Het
Kif2c	T	C	4: 117,019,843 (GRCm39)	S515G	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lsamp	T	C	16: 41,965,133 (GRCm39)	I330T	probably benign	Het
Map3k6	T	C	4: 132,975,707 (GRCm39)	S732P	possibly damaging	Het
Muc5b	C	T	7: 141,412,774 (GRCm39)	Q1907*	probably null	Het
Nap1l4	A	C	7: 143,088,132 (GRCm39)		probably benign	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nol4	A	T	18: 22,903,921 (GRCm39)		probably benign	Het
Or2l13b	T	A	16: 19,349,398 (GRCm39)	I91F	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pbld2	T	C	10: 62,907,244 (GRCm39)	L161P	probably damaging	Het
Pcdha6	T	A	18: 37,102,454 (GRCm39)	V549E	probably damaging	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Scmh1	T	A	4: 120,335,277 (GRCm39)	I154N	probably damaging	Het
Skor1	A	T	9: 63,047,350 (GRCm39)	L879Q	probably damaging	Het
Slc1a7	G	C	4: 107,834,841 (GRCm39)	R69P	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tenm1	C	T	X: 41,772,944 (GRCm39)	V1023M	probably benign	Het
Tpte	G	A	8: 22,849,498 (GRCm39)	C575Y	probably damaging	Het
Ulk4	T	C	9: 121,091,055 (GRCm39)	K216E	probably benign	Het
Unc5d	T	C	8: 29,251,826 (GRCm39)	I216V	probably benign	Het
Vmn2r16	T	C	5: 109,478,280 (GRCm39)	S12P	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAAGGACATGCAAAGACAG -3'
(R):5'- GAAAGTTCAGGCCCTTTACTTCC -3'

Sequencing Primer
(F):5'- TCTGTAAGCTCAGGTCCCCAG -3'
(R):5'- TTCCCCACTCCTAGAACAGGG -3'

Posted On

2015-03-18