Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Jak3'

562100

Institutional Source

Beutler Lab

Gene Symbol

Jak3

Ensembl Gene

ENSMUSG00000031805

Gene Name

Janus kinase 3

Synonyms

fae; wil

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71676296-71690575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71685511 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 869 (Q869K)

Ref Sequence

ENSEMBL: ENSMUSP00000060073 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000051995
AA Change: Q869K

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805
AA Change: Q869K

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: ENSMUST00000110012
AA Change: Q869K

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805
AA Change: Q869K

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
AA Change: Q869K

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805
AA Change: Q869K

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

0.1381

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	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
beanstalk	UTSW	8	71687288	missense	probably benign	0.01
citron	UTSW	8	71686976	splice site	probably benign
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
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
Z1176:Jak3	UTSW	8	71680683	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGTACATCTCTTTGCTGGGC -3'
(R):5'- CTATAGAAGCTGGGATTCATGGGAG -3'

Sequencing Primer
(F):5'- GCTGGGCAAGGTGAGTG -3'
(R):5'- GGGAGTTAACGACCTTGTTCAAC -3'

Posted On

2019-06-26