Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Jak3'

710486

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

fae; wil

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71676296-71690575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71684052 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 668 (P668S)

Ref Sequence

ENSEMBL: ENSMUSP00000060073 (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: P668S

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

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: P668S

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: P668S

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

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: P668S

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: P668S

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

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: P668S

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

0.4709

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	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
IGL01870:Jak3	APN	8	71680790	missense	probably damaging	1.00
IGL02132:Jak3	APN	8	71678480	missense	probably damaging	0.99
IGL02413:Jak3	APN	8	71686119	splice site	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
barbed	UTSW	8	71678781	missense	possibly damaging	0.88
beanstalk	UTSW	8	71687288	missense	probably benign	0.01
Bonis	UTSW	8	71679254	missense	probably benign	0.05
citron	UTSW	8	71686976	splice site	probably benign
corrupt	UTSW	8	71684052	missense	probably damaging	1.00
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
Riot	UTSW	8	71682316	missense	probably damaging	1.00
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
R8511:Jak3	UTSW	8	71685550	missense	probably damaging	1.00
R8808:Jak3	UTSW	8	71685520	missense	possibly damaging	0.71
R8859:Jak3	UTSW	8	71678516	missense	probably benign	0.37
R9079:Jak3	UTSW	8	71679254	missense	probably benign	0.05
R9320:Jak3	UTSW	8	71681621	missense	probably benign	0.03
R9664:Jak3	UTSW	8	71678722	missense	probably damaging	1.00
Z1176:Jak3	UTSW	8	71680683	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GTGTAGGCAGCATCAGATAGGC -3'
(R):5'- TCTGAGCCTCCTGGAGACATTC -3'

Sequencing Primer
(F):5'- CATCAGATAGGCTTTGAAGGATGC -3'
(R):5'- ACCCAGGGTATTCTGTCGG -3'

Posted On

2022-04-18