Mutagenetix > Incidental Mutations

Incidental Mutation 'R1627:Jak1'

172546

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

MMRRC Submission

039664-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1627 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

101152367-101265282 bp(-) (GRCm38)

Type of Mutation

splice site (2 bp from exon)

DNA Base Change (assembly)

A to G at 101191624 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102781] [ENSMUST00000149297] [ENSMUST00000149297]

Predicted Effect

probably benign
Transcript: ENSMUST00000102781
AA Change: M19T

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: M19T

Domain	Start	End	E-Value	Type
B41	32	286	2.45e-58	SMART
Blast:B41	291	420	4e-51	BLAST
SH2	437	531	1.85e-13	SMART
STYKc	582	844	6.72e-14	SMART
TyrKc	874	1148	9.01e-122	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132292

Predicted Effect

probably null
Transcript: ENSMUST00000149297

Predicted Effect

probably null
Transcript: ENSMUST00000149297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155328

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for disruption of this gene die within the first 24 hours after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,936,014	M630T	probably benign	Het
Anpep	T	C	7: 79,842,011	I81V	probably benign	Het
Bub1	A	G	2: 127,809,013	S627P	probably benign	Het
C1s1	T	A	6: 124,537,480	N139I	probably damaging	Het
Car6	A	T	4: 150,192,578	V152D	probably damaging	Het
Cdh19	C	A	1: 110,919,645	M411I	probably benign	Het
Cep95	A	G	11: 106,809,705	E322G	probably damaging	Het
Chek1	C	A	9: 36,714,441	V303L	probably benign	Het
Dctn1	T	A	6: 83,195,082	I818N	probably damaging	Het
Dscaml1	T	C	9: 45,753,147	S2107P	probably damaging	Het
Dusp14	A	G	11: 84,048,771	I148T	probably damaging	Het
Eps15	A	G	4: 109,370,557	D645G	probably damaging	Het
Etl4	A	G	2: 20,801,579	N1153S	possibly damaging	Het
Fer1l6	A	G	15: 58,641,879	D1541G	probably benign	Het
Gm14496	A	G	2: 181,998,778	S513G	probably damaging	Het
H2-D1	G	T	17: 35,263,495	A64S	possibly damaging	Het
Hsd17b2	T	A	8: 117,702,170	F59I	possibly damaging	Het
Itgb7	T	G	15: 102,223,476	Q224P	probably damaging	Het
Kdm1b	G	A	13: 47,064,231		probably null	Het
Lrp8	A	G	4: 107,854,416	I466V	probably damaging	Het
Mga	A	G	2: 119,964,562	D2909G	probably damaging	Het
Nol8	T	C	13: 49,661,504	S345P	probably benign	Het
Nup210l	T	C	3: 90,144,169	M540T	probably benign	Het
Obscn	C	T	11: 59,112,638	R1370H	probably benign	Het
Olfr1368	A	G	13: 21,142,955	F34S	probably damaging	Het
Pbx3	A	G	2: 34,175,953	V375A	probably benign	Het
Ppp1r9a	T	C	6: 4,906,168	V241A	possibly damaging	Het
Psmd6	C	T	14: 14,112,539	V354M	probably damaging	Het
Rab2a	T	C	4: 8,578,481	F94L	probably damaging	Het
Rev1	T	C	1: 38,055,490	D949G	probably damaging	Het
Ric8a	A	G	7: 140,858,178	D110G	probably damaging	Het
Rlf	A	T	4: 121,150,000	D594E	probably benign	Het
Sept1	C	A	7: 127,218,058		probably null	Het
Slco5a1	G	C	1: 12,990,383	P38R	probably damaging	Het
Snx33	C	A	9: 56,925,957	R276L	probably damaging	Het
Taf11	A	T	17: 27,905,279	D101E	probably benign	Het
Ttn	A	G	2: 76,934,220	S3168P	probably damaging	Het
Uggt2	T	C	14: 119,057,663	E41G	possibly damaging	Het
Vmn2r80	A	G	10: 79,194,415	R692G	probably damaging	Het
Zfp763	A	T	17: 33,021,784	W24R	probably damaging	Het

Other mutations in Jak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Jak1	APN	4	101154629	missense	probably damaging	1.00
IGL00990:Jak1	APN	4	101171357	missense	probably damaging	1.00
IGL01341:Jak1	APN	4	101175093	missense	probably damaging	0.98
IGL02102:Jak1	APN	4	101159086	missense	probably benign	0.11
IGL02720:Jak1	APN	4	101164450	splice site	probably benign
IGL03301:Jak1	APN	4	101175173	missense	probably damaging	1.00
Back	UTSW	4	101174211	critical splice acceptor site	probably null
Behind	UTSW	4	101154537	critical splice donor site	probably null
Lady	UTSW	4	101179541	nonsense	probably null
BB006:Jak1	UTSW	4	101154645	missense	probably damaging	1.00
BB016:Jak1	UTSW	4	101154645	missense	probably damaging	1.00
PIT4377001:Jak1	UTSW	4	101179551	missense	probably benign	0.19
R0308:Jak1	UTSW	4	101154535	splice site	probably null
R0544:Jak1	UTSW	4	101191625	missense	probably benign
R1212:Jak1	UTSW	4	101189094	missense	probably damaging	1.00
R1519:Jak1	UTSW	4	101162922	missense	probably damaging	0.99
R1760:Jak1	UTSW	4	101162929	missense	probably benign	0.04
R2116:Jak1	UTSW	4	101179675	missense	probably damaging	0.98
R2980:Jak1	UTSW	4	101179781	missense	probably damaging	0.99
R3738:Jak1	UTSW	4	101191468	unclassified	probably benign
R3779:Jak1	UTSW	4	101156490	missense	probably benign	0.40
R4172:Jak1	UTSW	4	101159132	missense	probably benign	0.08
R4505:Jak1	UTSW	4	101154603	missense	probably benign
R4602:Jak1	UTSW	4	101179594	missense	possibly damaging	0.83
R4755:Jak1	UTSW	4	101174157	missense	probably damaging	1.00
R4836:Jak1	UTSW	4	101155066	missense	probably damaging	0.97
R4908:Jak1	UTSW	4	101179714	missense	probably damaging	1.00
R5116:Jak1	UTSW	4	101155113	missense	probably benign
R6190:Jak1	UTSW	4	101175128	missense	probably damaging	1.00
R6339:Jak1	UTSW	4	101161926	missense	probably damaging	0.99
R6500:Jak1	UTSW	4	101181933	missense	probably benign	0.43
R6551:Jak1	UTSW	4	101193843	start gained	probably benign
R6895:Jak1	UTSW	4	101154537	critical splice donor site	probably null
R7163:Jak1	UTSW	4	101175188	missense	probably damaging	1.00
R7204:Jak1	UTSW	4	101175135	missense	probably benign	0.02
R7361:Jak1	UTSW	4	101184339	missense	possibly damaging	0.86
R7408:Jak1	UTSW	4	101175182	missense	probably damaging	0.96
R7513:Jak1	UTSW	4	101191651	missense	probably damaging	0.96
R7617:Jak1	UTSW	4	101174211	critical splice acceptor site	probably null
R7779:Jak1	UTSW	4	101160142	missense	probably benign
R7929:Jak1	UTSW	4	101154645	missense	probably damaging	1.00
R8282:Jak1	UTSW	4	101179541	nonsense	probably null
Z1176:Jak1	UTSW	4	101163681	missense	probably damaging	1.00
Z1176:Jak1	UTSW	4	101163722	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGGCTTCCAGAACTCACACCTTGC -3'
(R):5'- TGACTCCAGAGGAGAGCTTCCAAC -3'

Sequencing Primer
(F):5'- GAACTCACACCTTGCTCTCAG -3'
(R):5'- GAGAGCTTCCAACTACAACTAGTATG -3'

Posted On

2014-04-24