Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Jak3'

228611

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

fae; wil

MMRRC Submission

040065-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71676296-71690575 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 71680714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 350 (C350*)

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 null
Transcript: ENSMUST00000051995
AA Change: C350*

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: C350*

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 null
Transcript: ENSMUST00000110012
AA Change: C350*

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: C350*

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 null
Transcript: ENSMUST00000110013
AA Change: C350*

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: C350*

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abca14	G	A	7: 120,227,518	W462*	probably null	Het
Aftph	A	T	11: 20,692,571	Y821N	probably damaging	Het
Ahnak	A	T	19: 9,008,041	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,972,782	F144L	probably benign	Het
Arid4b	C	T	13: 14,195,452	R1178C	probably damaging	Het
Asb8	A	T	15: 98,141,373	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,205,114	N165S	probably damaging	Het
BC017158	A	G	7: 128,288,331	L176P	probably damaging	Het
Bod1l	A	T	5: 41,808,742	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,454,948	I825T	probably damaging	Het
C4b	A	G	17: 34,736,101	W804R	probably damaging	Het
Cadm3	A	T	1: 173,344,402	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982	F552L	probably benign	Het
Cdh7	G	C	1: 110,048,877	A91P	probably damaging	Het
Cela1	A	G	15: 100,675,322		probably null	Het
Clk3	T	C	9: 57,751,117	Y582C	probably damaging	Het
Cma1	C	T	14: 55,943,698		probably null	Het
Ctcfl	A	G	2: 173,118,506	S95P	probably benign	Het
Cylc1	C	A	X: 111,123,123	T391K	unknown	Het
Cyp3a11	T	A	5: 145,855,081	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,104,714	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,107,710	D226A	possibly damaging	Het
Dlec1	A	C	9: 119,112,086	T235P	probably damaging	Het
Dnaaf1	G	A	8: 119,590,602	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,178,003	R377W	probably damaging	Het
Dpep1	T	A	8: 123,200,391	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,159	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802	I596L	possibly damaging	Het
Edem1	T	A	6: 108,854,287	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,657,129	E9*	probably null	Het
Enpep	T	A	3: 129,280,523	N792Y	probably benign	Het
Enpp2	A	T	15: 54,875,714	M391K	probably damaging	Het
Fanca	A	C	8: 123,274,481	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,218,383	L74I	probably damaging	Het
Fchsd2	T	A	7: 101,277,417	F571L	probably benign	Het
Fhad1	T	C	4: 141,899,249	D1345G	probably benign	Het
G2e3	T	C	12: 51,372,606	F702L	probably damaging	Het
Glce	A	T	9: 62,060,946	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,657,119	D119G	probably benign	Het
Gpr137c	T	C	14: 45,244,159	I144T	probably damaging	Het
Gprin3	A	G	6: 59,354,519	C268R	possibly damaging	Het
Hadha	G	A	5: 30,128,836	T395M	probably benign	Het
Hdhd2	T	G	18: 76,965,042		probably null	Het
Homer2	C	T	7: 81,618,703	E70K	probably benign	Het
Hp1bp3	T	A	4: 138,240,672	D397E	probably damaging	Het
Hrh3	T	C	2: 180,101,250	N195S	possibly damaging	Het
Hyou1	T	C	9: 44,381,552	V153A	probably benign	Het
Igf2r	A	T	17: 12,701,319	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,501,763	R279H	possibly damaging	Het
Itga10	A	T	3: 96,654,998	R699*	probably null	Het
Itpkb	A	G	1: 180,421,858	T933A	probably benign	Het
Itsn2	T	G	12: 4,627,879	F79V	probably damaging	Het
Kcnq5	T	C	1: 21,461,597	S421G	probably benign	Het
Kdm2b	A	T	5: 122,883,365	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,970,623	D170G	possibly damaging	Het
Lama3	A	T	18: 12,528,726	T2160S	probably benign	Het
Lman1	A	T	18: 65,998,352		probably benign	Het
Lmtk3	G	A	7: 45,800,911		probably null	Het
Ltb	A	G	17: 35,195,763	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,308,953	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,499,919		probably null	Het
Mast4	G	T	13: 102,738,846	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,711,562	S678N	probably damaging	Het
Mon2	A	T	10: 122,995,776	I1675N	probably damaging	Het
Mug2	A	G	6: 122,079,612	N1172S	probably benign	Het
Naa30	C	G	14: 49,173,099	S161R	possibly damaging	Het
Ncaph	T	C	2: 127,124,875	N220D	probably damaging	Het
Nell1	T	C	7: 50,560,830	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877	N142S	possibly damaging	Het
Nin	T	A	12: 70,042,418	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693		noncoding transcript	Het
Nrg1	T	G	8: 31,918,015	E63D	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1167	T	C	2: 88,149,143	Y292C	probably damaging	Het
Olfr128	A	G	17: 37,923,880	T105A	probably benign	Het
Olfr473	C	T	7: 107,933,661	T47M	probably benign	Het
Olfr522	T	A	7: 140,162,824	E42V	probably damaging	Het
Olfr845	A	G	9: 19,339,056	I199V	probably benign	Het
Olfr851	T	A	9: 19,497,237	V163E	possibly damaging	Het
Olfr867	A	T	9: 20,054,596	I289N	probably damaging	Het
Olfr998	G	A	2: 85,591,283	V248I	possibly damaging	Het
Orc5	C	T	5: 22,516,703		probably null	Het
Pard3	G	A	8: 127,398,604	R691Q	probably benign	Het
Pofut1	T	A	2: 153,243,660	D54E	probably benign	Het
Prl2c5	T	A	13: 13,190,653	V128E	probably damaging	Het
Ptk7	T	C	17: 46,566,238	M965V	possibly damaging	Het
Pum2	C	T	12: 8,728,726	R459*	probably null	Het
Pzp	A	T	6: 128,483,710	N1494K	probably benign	Het
Rad21l	A	G	2: 151,645,429	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,810,108	M352K	possibly damaging	Het
Rpusd2	G	A	2: 119,037,215		probably null	Het
Rsph14	A	T	10: 75,029,771	D78E	probably damaging	Het
Rtl9	A	T	X: 143,102,030	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,612,940	H74L	probably damaging	Het
Rusc1	G	A	3: 89,087,848	T725I	possibly damaging	Het
Ryr2	C	T	13: 11,595,736	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,954,364	V224A	possibly damaging	Het
Shprh	A	T	10: 11,152,120	N157I	probably benign	Het
Siglece	A	G	7: 43,657,786	I67T	probably benign	Het
Slc9b2	A	T	3: 135,326,266	T296S	probably damaging	Het
Sorbs2	A	G	8: 45,775,629	K276E	probably damaging	Het
Synj2	A	G	17: 6,037,480	T1269A	probably benign	Het
Taar7b	T	C	10: 24,000,675	I246T	possibly damaging	Het
Taldo1	A	G	7: 141,396,154	Y113C	probably damaging	Het
Tarbp1	A	T	8: 126,447,594		probably null	Het
Tars	C	T	15: 11,394,373	M59I	probably benign	Het
Tas2r130	G	A	6: 131,630,817	T5I	probably benign	Het
Tex48	T	C	4: 63,607,415	E77G	probably damaging	Het
Tmco5	A	G	2: 116,892,255	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,519,914	H243Q	probably benign	Het
Ttn	T	A	2: 76,734,294	R26754*	probably null	Het
Ttn	G	A	2: 76,897,580		probably benign	Het
Ubqln3	A	C	7: 104,142,151	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,873,566	R115*	probably null	Het
Umod	T	G	7: 119,476,715	N276T	probably damaging	Het
Unc13c	A	T	9: 73,665,656	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,640,595	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,774,795	D1442E	probably damaging	Het
Utp4	A	G	8: 106,898,521	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,427,209	N127K	probably benign	Het
Vmn2r75	T	A	7: 86,165,164	T374S	probably benign	Het
Washc5	A	G	15: 59,350,408	F523L	probably damaging	Het
Wdr3	A	T	3: 100,159,897		probably null	Het
Wdr89	T	C	12: 75,632,988	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,225,091	S550P	probably damaging	Het
Zfp69	T	C	4: 120,930,832	T429A	probably damaging	Het
Zfpm1	G	T	8: 122,336,592	G797C	probably benign	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	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
R9389:Jak3	UTSW	8	71684052	missense	probably damaging	1.00
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'- TCCGGAAATCGTGGATGTCAG -3'
(R):5'- AGTCTAACCTAGGCCAAGACAG -3'

Sequencing Primer
(F):5'- TGGTCACCGTCACCAGGATG -3'
(R):5'- AGACAGCAGCCAGGTCC -3'

Posted On

2014-09-17