Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Jak3'

32641

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

fae; wil

MMRRC Submission

038308-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R0013 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

71676296-71690575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71684327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 716 (S716G)

Ref Sequence

ENSEMBL: ENSMUSP00000105640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034261] [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034261

SMART Domains

Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
IlGF	26	120	2.46e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000051995
AA Change: S716G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: S716G

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: S716G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: S716G

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: S716G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: S716G

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

Meta Mutation Damage Score

0.6069

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Plekhg4	G	T	8: 105,375,396	E6*	probably null	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly 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
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
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'- ACTGTGCTGAGCCTGGAAAGTGAG -3'
(R):5'- TGATAAGTCCCGCCAGTTCTGTCC -3'

Sequencing Primer
(F):5'- TCACACAGGGCCTGCAC -3'
(R):5'- TCCATTTGAGAGCGGGCAG -3'

Posted On

2013-05-09