Mutagenetix > Incidental Mutation

Incidental Mutation 'R7013:Jak3'

545127

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

MMRRC Submission

045114-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R7013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72129027-72143221 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72131425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 97 (V97F)

Ref Sequence

ENSEMBL: ENSMUSP00000105640 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051995
AA Change: V97F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: V97F

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

possibly damaging
Transcript: ENSMUST00000110012
AA Change: V97F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: V97F

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

possibly damaging
Transcript: ENSMUST00000110013
AA Change: V97F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: V97F

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

Meta Mutation Damage Score

0.1751

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,345 (GRCm39)	I213V	probably null	Het
Abcc4	A	T	14: 118,763,755 (GRCm39)	C952S	probably benign	Het
Adhfe1	T	C	1: 9,620,816 (GRCm39)		probably benign	Het
Apob	T	A	12: 8,060,080 (GRCm39)	L2854*	probably null	Het
Arhgap5	T	A	12: 52,565,109 (GRCm39)	N693K	probably benign	Het
Arid5b	A	G	10: 67,933,649 (GRCm39)	V508A	probably damaging	Het
Atl1	A	G	12: 70,000,214 (GRCm39)	E288G	probably damaging	Het
Bank1	A	G	3: 135,806,270 (GRCm39)	S455P	possibly damaging	Het
Ces1c	A	T	8: 93,857,392 (GRCm39)	L63Q	probably damaging	Het
Crmp1	A	T	5: 37,426,036 (GRCm39)		probably null	Het
Csnka2ip	T	C	16: 64,298,780 (GRCm39)	D528G	unknown	Het
Dact2	T	C	17: 14,423,796 (GRCm39)	T66A	probably benign	Het
Dkk2	T	C	3: 131,880,760 (GRCm39)	L135P	probably damaging	Het
Drc3	A	G	11: 60,278,129 (GRCm39)	N381S	probably benign	Het
Dsg4	T	C	18: 20,591,578 (GRCm39)	V439A	possibly damaging	Het
Dysf	C	T	6: 84,114,340 (GRCm39)	P1240S	probably damaging	Het
Esyt1	A	T	10: 128,361,520 (GRCm39)	V58E	probably damaging	Het
Exo1	G	T	1: 175,721,338 (GRCm39)	A326S	probably damaging	Het
Fam20b	A	G	1: 156,518,135 (GRCm39)	S220P	probably damaging	Het
Fmo6	G	A	1: 162,745,817 (GRCm39)	T402I	probably benign	Het
Galnt10	A	T	11: 57,656,410 (GRCm39)	D198V	probably benign	Het
Gsap	A	T	5: 21,483,108 (GRCm39)	E604D	probably benign	Het
Il20rb	A	G	9: 100,343,481 (GRCm39)	Y258H	probably benign	Het
Impg1	A	T	9: 80,285,776 (GRCm39)	S409R	probably damaging	Het
Lbhd1	T	C	19: 8,861,523 (GRCm39)	S52P	probably damaging	Het
Lman2l	A	G	1: 36,482,599 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,788,625 (GRCm39)	M493I	probably benign	Het
Mpp4	T	C	1: 59,188,774 (GRCm39)	D132G	probably damaging	Het
Nlrp1a	G	A	11: 71,014,378 (GRCm39)	R291W	probably benign	Het
Or1e23	G	T	11: 73,407,247 (GRCm39)	Y259*	probably null	Het
Or4a79	T	A	2: 89,551,730 (GRCm39)	I242F	probably benign	Het
Or4b13	C	T	2: 90,082,441 (GRCm39)	R297Q	possibly damaging	Het
Or4f15	G	A	2: 111,814,308 (GRCm39)	A37V	probably benign	Het
Or4n4b	T	A	14: 50,536,656 (GRCm39)	I37F	probably damaging	Het
Orc5	A	G	5: 22,738,787 (GRCm39)	V158A	probably benign	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pcdhga3	A	G	18: 37,808,674 (GRCm39)	N376D	probably damaging	Het
Ptprr	T	A	10: 116,072,659 (GRCm39)	I207N	probably damaging	Het
Recql5	A	G	11: 115,785,402 (GRCm39)	V698A	probably benign	Het
Rnf212	A	T	5: 108,877,826 (GRCm39)	M222K	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Smap2	T	C	4: 120,839,365 (GRCm39)	K121E	probably damaging	Het
Syt11	A	T	3: 88,655,296 (GRCm39)	V335D	possibly damaging	Het
Terb1	A	T	8: 105,215,222 (GRCm39)	C251*	probably null	Het
Tmprss11d	C	A	5: 86,474,432 (GRCm39)	R37L	probably damaging	Het
Ttbk2	T	C	2: 120,576,265 (GRCm39)	N904S	possibly damaging	Het
Vmn1r119	T	A	7: 20,745,714 (GRCm39)	I223F	probably damaging	Het
Vmn1r66	T	C	7: 10,008,683 (GRCm39)	R117G	possibly damaging	Het
Zfp106	T	C	2: 120,362,113 (GRCm39)	D1025G	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
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
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'- CCCTAGATGACCATGCCATG -3'
(R):5'- AAAGCTGTGGGTTTCAGAATGG -3'

Sequencing Primer
(F):5'- GATGACCATGCCATGTAATAGC -3'
(R):5'- TTCAGAATGGGGTGGCCC -3'

Posted On

2019-05-13