Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Jak1'

357887

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

C130039L05Rik, BAP004

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101009564-101122479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101031354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 463 (Y463H)

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: Y463H

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

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: Y463H

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

0.4124

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,280 (GRCm39)		noncoding transcript	Het
Aadacl2fm1	C	T	3: 59,843,735 (GRCm39)	A143V	probably benign	Het
Accs	T	C	2: 93,671,682 (GRCm39)	E236G	probably damaging	Het
Agrn	C	T	4: 156,257,979 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,374,581 (GRCm39)	C4*	probably null	Het
Amotl2	A	T	9: 102,597,679 (GRCm39)	H146L	probably damaging	Het
Ank1	A	G	8: 23,594,990 (GRCm39)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,403,509 (GRCm39)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,161,614 (GRCm39)	M582K	probably benign	Het
Brca2	T	A	5: 150,483,452 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,561,493 (GRCm39)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdk5rap2	A	G	4: 70,156,662 (GRCm39)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,367,379 (GRCm39)	M37L	probably benign	Het
Cenpk	A	T	13: 104,386,020 (GRCm39)	H305L	probably benign	Het
Ces5a	C	A	8: 94,262,305 (GRCm39)	A11S	probably benign	Het
Cfap65	T	C	1: 74,967,520 (GRCm39)	E186G	probably damaging	Het
Cfh	T	A	1: 140,016,546 (GRCm39)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,327,726 (GRCm39)	V961I	probably benign	Het
Cog5	T	A	12: 31,919,405 (GRCm39)		probably null	Het
Col4a4	T	C	1: 82,518,895 (GRCm39)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,652,316 (GRCm39)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,824,809 (GRCm39)	N655S	probably benign	Het
Dnai1	C	G	4: 41,610,269 (GRCm39)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,407,996 (GRCm39)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,194,016 (GRCm39)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,472,135 (GRCm39)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,515,066 (GRCm39)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,512,060 (GRCm39)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,655,794 (GRCm39)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,716,374 (GRCm39)	D71G	probably damaging	Het
Folr2	T	C	7: 101,493,006 (GRCm39)	T6A	possibly damaging	Het
Fry	A	C	5: 150,321,719 (GRCm39)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,320,193 (GRCm39)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,441,676 (GRCm39)	Y85C	probably damaging	Het
Gpld1	A	T	13: 25,163,671 (GRCm39)	Y43F	probably benign	Het
Gpld1	T	A	13: 25,163,675 (GRCm39)	Y44*	probably null	Het
Grid2	A	G	6: 63,885,972 (GRCm39)	T123A	probably benign	Het
Grina	T	C	15: 76,133,442 (GRCm39)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,002,102 (GRCm39)	A659V	probably benign	Het
H2-T10	T	A	17: 36,429,837 (GRCm39)	K319*	probably null	Het
Hey2	A	T	10: 30,710,300 (GRCm39)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,587,178 (GRCm39)	T13I	probably benign	Het
Il1rap	C	A	16: 26,541,532 (GRCm39)	A591E	probably benign	Het
Ildr1	T	C	16: 36,542,383 (GRCm39)	L261P	probably benign	Het
Lrp1b	T	C	2: 41,159,285 (GRCm39)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,361,028 (GRCm39)	T592S	probably benign	Het
Lrrc36	A	G	8: 106,178,776 (GRCm39)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,434,806 (GRCm39)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,381,669 (GRCm39)	C32W	probably damaging	Het
Marchf10	C	T	11: 105,255,302 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,031 (GRCm39)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,303,326 (GRCm39)	C59*	probably null	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Myo18b	G	A	5: 113,022,340 (GRCm39)	Q351*	probably null	Het
Myo1a	A	G	10: 127,551,557 (GRCm39)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,360,650 (GRCm39)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,691,938 (GRCm39)	A513E	probably benign	Het
Neb	T	C	2: 52,110,221 (GRCm39)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,652,457 (GRCm39)	Q52L	unknown	Het
Nptx2	G	A	5: 144,483,250 (GRCm39)	S126N	probably benign	Het
Or2a7	G	A	6: 43,150,977 (GRCm39)	S19N	probably benign	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or7g17	A	T	9: 18,768,476 (GRCm39)	H185L	probably benign	Het
Or8b52	A	G	9: 38,577,128 (GRCm39)	V4A	probably benign	Het
Pclo	A	T	5: 14,764,362 (GRCm39)	R4278S	unknown	Het
Pcnx1	T	G	12: 81,997,068 (GRCm39)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,363,970 (GRCm39)	N75K	probably benign	Het
Prpf19	T	G	19: 10,875,154 (GRCm39)		probably benign	Het
Ralgapa1	A	G	12: 55,759,533 (GRCm39)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,597,118 (GRCm39)	T226A	probably benign	Het
Rimklb	G	A	6: 122,433,365 (GRCm39)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,574,930 (GRCm39)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,267,519 (GRCm39)	D1035V	probably benign	Het
Rps23rg1	A	T	8: 3,633,922 (GRCm39)	S8C	probably damaging	Het
Scd2	T	A	19: 44,289,791 (GRCm39)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,024,956 (GRCm39)	M84L	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,419,160 (GRCm39)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,359,794 (GRCm39)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,297,492 (GRCm39)		probably benign	Het
Slc4a10	T	A	2: 62,127,332 (GRCm39)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,022,398 (GRCm39)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,302,008 (GRCm39)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,631,883 (GRCm39)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,421,548 (GRCm39)	N594K	probably benign	Het
Spata22	A	T	11: 73,236,582 (GRCm39)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,363,058 (GRCm39)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,583,081 (GRCm39)		probably benign	Het
Strn3	T	A	12: 51,656,999 (GRCm39)	I760L	possibly damaging	Het
Syk	A	T	13: 52,796,022 (GRCm39)	Y539F	probably benign	Het
Tdpoz9-ps1	T	C	3: 93,846,093 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 130,138,001 (GRCm39)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,504,494 (GRCm39)	E42*	probably null	Het
Tom1l1	T	C	11: 90,575,942 (GRCm39)	E30G	probably damaging	Het
Trav10	G	A	14: 53,743,518 (GRCm39)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,878,237 (GRCm39)		probably benign	Het
Tril	T	A	6: 53,795,449 (GRCm39)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,059,087 (GRCm39)	R179*	probably null	Het
Tspoap1	A	T	11: 87,662,489 (GRCm39)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,682,768 (GRCm39)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,065,608 (GRCm39)	I509T	probably benign	Het
Vax2	T	G	6: 83,688,379 (GRCm39)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,150,025 (GRCm39)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,949,566 (GRCm39)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,851 (GRCm39)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,940,431 (GRCm39)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,855,638 (GRCm39)	S264A	probably benign	Het
Zfp330	A	T	8: 83,496,015 (GRCm39)	C75*	probably null	Het
Zfp526	T	A	7: 24,925,064 (GRCm39)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,402,930 (GRCm39)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,240,217 (GRCm39)	F602I	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
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'- CTACCAGAGACTTGCTCAGAGAG -3'
(R):5'- AGCTCTGGATGTCTCAAACTCC -3'

Sequencing Primer
(F):5'- TCAGAGAGAGACCCTGGTGTTC -3'
(R):5'- AAACTCCTTCTCACCACGTG -3'

Posted On

2015-11-11