Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Jak1'

574839

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

C130039L05Rik, BAP004

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101009564-101122479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101032379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 409 (V409A)

Ref Sequence

ENSEMBL: ENSMUSP00000099842 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000102781
AA Change: V409A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: V409A

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

Meta Mutation Damage Score

0.2121

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cgn	T	A	3: 94,670,362 (GRCm39)	K1031*	probably null	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,742,184 (GRCm39)		probably null	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Mta1	G	A	12: 113,095,088 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or4b1	T	A	2: 89,980,188 (GRCm39)	H54L	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Rad17	G	A	13: 100,766,019 (GRCm39)	Q370*	probably null	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
R1212:Jak1	UTSW	4	101,046,291 (GRCm39)	missense	probably damaging	1.00
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
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'- ACAACTGGCCACATGCAGAG -3'
(R):5'- AGAAACCAAGGTGCTTGTATGC -3'

Sequencing Primer
(F):5'- CTGGCCACATGCAGAGCTAAG -3'
(R):5'- CCAGGTGGGGTCTGATTCAGC -3'

Posted On

2019-10-07