Mutagenetix > Incidental Mutation

Incidental Mutation 'R1212:Jak1'

99436

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

C130039L05Rik, BAP004

MMRRC Submission

039281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1212 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

101009564-101122479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101046291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 105 (L105P)

Ref Sequence

ENSEMBL: ENSMUSP00000099842 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000102781
AA Change: L105P

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

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: L105P

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

noncoding transcript
Transcript: ENSMUST00000136167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147211

Predicted Effect

probably benign
Transcript: ENSMUST00000149297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155328

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.2%
20x: 82.9%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	G	A	2: 91,599,381 (GRCm39)	R167H	possibly damaging	Het
Ankrd50	G	A	3: 38,509,836 (GRCm39)	R844C	probably damaging	Het
Arfgef1	T	C	1: 10,286,784 (GRCm39)	E42G	probably benign	Het
Arhgap42	T	A	9: 9,015,313 (GRCm39)	I444F	probably damaging	Het
Cspg4b	G	A	13: 113,505,951 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,387,728 (GRCm39)	D393G	probably damaging	Het
Ift70a2	A	T	2: 75,806,823 (GRCm39)	I563N	probably damaging	Het
Il25	G	A	14: 55,170,212 (GRCm39)		probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Ralgapa2	A	G	2: 146,199,902 (GRCm39)	V1214A	probably benign	Het
Shtn1	T	C	19: 59,039,322 (GRCm39)	D39G	probably damaging	Het
Supt16	G	A	14: 52,411,581 (GRCm39)	R601*	probably null	Het
Vmn1r113	A	T	7: 20,521,356 (GRCm39)	R49S	probably benign	Het
Vmn1r64	C	T	7: 5,887,210 (GRCm39)	S111N	probably damaging	Het

Other mutations in Jak1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Jak1	APN	4	101,011,826 (GRCm39)	missense	probably damaging	1.00
IGL00990:Jak1	APN	4	101,028,554 (GRCm39)	missense	probably damaging	1.00
IGL01341:Jak1	APN	4	101,032,290 (GRCm39)	missense	probably damaging	0.98
IGL02102:Jak1	APN	4	101,016,283 (GRCm39)	missense	probably benign	0.11
IGL02720:Jak1	APN	4	101,021,647 (GRCm39)	splice site	probably benign
IGL03301:Jak1	APN	4	101,032,370 (GRCm39)	missense	probably damaging	1.00
Back	UTSW	4	101,031,408 (GRCm39)	critical splice acceptor site	probably null
Behind	UTSW	4	101,011,734 (GRCm39)	critical splice donor site	probably null
Lady	UTSW	4	101,036,738 (GRCm39)	nonsense	probably null
Wordless	UTSW	4	101,013,704 (GRCm39)	missense	probably damaging	1.00
BB006:Jak1	UTSW	4	101,011,842 (GRCm39)	missense	probably damaging	1.00
BB016:Jak1	UTSW	4	101,011,842 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Jak1	UTSW	4	101,036,748 (GRCm39)	missense	probably benign	0.19
R0308:Jak1	UTSW	4	101,011,732 (GRCm39)	splice site	probably null
R0544:Jak1	UTSW	4	101,048,822 (GRCm39)	missense	probably benign
R1519:Jak1	UTSW	4	101,020,119 (GRCm39)	missense	probably damaging	0.99
R1627:Jak1	UTSW	4	101,048,821 (GRCm39)	splice site	probably null
R1760:Jak1	UTSW	4	101,020,126 (GRCm39)	missense	probably benign	0.04
R2116:Jak1	UTSW	4	101,036,872 (GRCm39)	missense	probably damaging	0.98
R2980:Jak1	UTSW	4	101,036,978 (GRCm39)	missense	probably damaging	0.99
R3738:Jak1	UTSW	4	101,048,665 (GRCm39)	unclassified	probably benign
R3779:Jak1	UTSW	4	101,013,687 (GRCm39)	missense	probably benign	0.40
R4172:Jak1	UTSW	4	101,016,329 (GRCm39)	missense	probably benign	0.08
R4505:Jak1	UTSW	4	101,011,800 (GRCm39)	missense	probably benign
R4602:Jak1	UTSW	4	101,036,791 (GRCm39)	missense	possibly damaging	0.83
R4755:Jak1	UTSW	4	101,031,354 (GRCm39)	missense	probably damaging	1.00
R4836:Jak1	UTSW	4	101,012,263 (GRCm39)	missense	probably damaging	0.97
R4908:Jak1	UTSW	4	101,036,911 (GRCm39)	missense	probably damaging	1.00
R5116:Jak1	UTSW	4	101,012,310 (GRCm39)	missense	probably benign
R6190:Jak1	UTSW	4	101,032,325 (GRCm39)	missense	probably damaging	1.00
R6339:Jak1	UTSW	4	101,019,123 (GRCm39)	missense	probably damaging	0.99
R6500:Jak1	UTSW	4	101,039,130 (GRCm39)	missense	probably benign	0.43
R6551:Jak1	UTSW	4	101,051,040 (GRCm39)	start gained	probably benign
R6895:Jak1	UTSW	4	101,011,734 (GRCm39)	critical splice donor site	probably null
R7163:Jak1	UTSW	4	101,032,385 (GRCm39)	missense	probably damaging	1.00
R7204:Jak1	UTSW	4	101,032,332 (GRCm39)	missense	probably benign	0.02
R7361:Jak1	UTSW	4	101,041,536 (GRCm39)	missense	possibly damaging	0.86
R7408:Jak1	UTSW	4	101,032,379 (GRCm39)	missense	probably damaging	0.96
R7513:Jak1	UTSW	4	101,048,848 (GRCm39)	missense	probably damaging	0.96
R7617:Jak1	UTSW	4	101,031,408 (GRCm39)	critical splice acceptor site	probably null
R7779:Jak1	UTSW	4	101,017,339 (GRCm39)	missense	probably benign
R7929:Jak1	UTSW	4	101,011,842 (GRCm39)	missense	probably damaging	1.00
R8282:Jak1	UTSW	4	101,036,738 (GRCm39)	nonsense	probably null
R8694:Jak1	UTSW	4	101,013,704 (GRCm39)	missense	probably damaging	1.00
R8945:Jak1	UTSW	4	101,020,109 (GRCm39)	missense	probably benign
R9244:Jak1	UTSW	4	101,015,040 (GRCm39)	missense	probably benign	0.18
R9671:Jak1	UTSW	4	101,034,926 (GRCm39)	missense	possibly damaging	0.73
R9681:Jak1	UTSW	4	101,019,085 (GRCm39)	missense	probably damaging	1.00
R9747:Jak1	UTSW	4	101,016,087 (GRCm39)	missense	probably benign	0.02
Z1176:Jak1	UTSW	4	101,020,919 (GRCm39)	missense	probably benign	0.09
Z1176:Jak1	UTSW	4	101,020,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAATCGCACTGCAACACGGAAG -3'
(R):5'- TCCCCTGAGTGAACATAGCTGAGAG -3'

Sequencing Primer
(F):5'- TGCAACACGGAAGGTGTCC -3'
(R):5'- ACATAGCTGAGAGTTGCATCTG -3'

Posted On

2014-01-15