Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:Jak1'

373227

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

C130039L05Rik, BAP004

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4836 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

101009564-101122479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101012263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1069 (T1069A)

Ref Sequence

ENSEMBL: ENSMUSP00000099842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038463] [ENSMUST00000102781]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038463

SMART Domains

Protein: ENSMUSP00000043142
Gene: ENSMUSG00000035275

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
RRM	59	125	8.2e-11	SMART
RRM	132	205	1.67e-11	SMART
RRM	221	294	2.12e-4	SMART
low complexity region	362	379	N/A	INTRINSIC
low complexity region	499	512	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102781
AA Change: T1069A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: T1069A

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: ENSMUST00000151235

Meta Mutation Damage Score

0.4179

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,066,152 (GRCm39)	S453T	probably benign	Het
Ahnak2	A	T	12: 112,740,550 (GRCm39)	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,745,134 (GRCm39)	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,840,751 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,613,073 (GRCm39)	N1166S	probably benign	Het
Atl3	C	T	19: 7,486,910 (GRCm39)	R77*	probably null	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Ccnt1	C	A	15: 98,465,444 (GRCm39)	R25L	probably damaging	Het
Cct4	A	G	11: 22,952,898 (GRCm39)	T525A	probably benign	Het
Cep350	T	C	1: 155,804,579 (GRCm39)	I835V	probably damaging	Het
Cimap2	T	A	4: 106,467,724 (GRCm39)		probably null	Het
Clcn1	G	T	6: 42,286,898 (GRCm39)	V652L	probably damaging	Het
Cntln	T	A	4: 84,967,957 (GRCm39)	Y725*	probably null	Het
Cog5	T	C	12: 31,969,732 (GRCm39)	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,088,406 (GRCm39)		probably benign	Het
Dnm2	A	T	9: 21,402,626 (GRCm39)		probably benign	Het
Dnmt1	C	T	9: 20,819,854 (GRCm39)	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,927,106 (GRCm39)	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,066,867 (GRCm39)	V129M	probably damaging	Het
Epha3	A	T	16: 63,403,920 (GRCm39)	M726K	probably damaging	Het
Fat3	A	G	9: 16,289,019 (GRCm39)	L168P	probably damaging	Het
Frem3	T	A	8: 81,390,026 (GRCm39)	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,498,153 (GRCm39)	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,122,392 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,864,958 (GRCm39)		probably benign	Het
H1f9	T	A	11: 94,858,843 (GRCm39)	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,265,453 (GRCm39)	913	probably null	Het
Isl1	A	G	13: 116,439,619 (GRCm39)	M243T	probably benign	Het
Itpr1	A	T	6: 108,366,498 (GRCm39)	I142F	probably damaging	Het
Jmjd1c	T	C	10: 67,069,225 (GRCm39)	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,389,363 (GRCm39)	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,521,053 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,241,713 (GRCm39)	F171L	possibly damaging	Het
Map1b	A	G	13: 99,567,562 (GRCm39)	S1720P	unknown	Het
Mcpt1	A	T	14: 56,257,017 (GRCm39)	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,027 (GRCm39)	D238E	possibly damaging	Het
Mov10l1	A	T	15: 88,904,472 (GRCm39)	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,933,752 (GRCm39)	P101S	probably damaging	Het
Myh3	G	T	11: 66,987,765 (GRCm39)	A1413S	probably benign	Het
Naa80	A	T	9: 107,460,738 (GRCm39)	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or12j4	A	G	7: 140,046,989 (GRCm39)	R292G	probably damaging	Het
Or2t48	A	C	11: 58,420,308 (GRCm39)	M168R	probably damaging	Het
Or4a66	A	G	2: 88,531,544 (GRCm39)	I43T	probably damaging	Het
Or5g9	A	G	2: 85,551,793 (GRCm39)	I15V	probably benign	Het
Or8k22	A	T	2: 86,163,571 (GRCm39)	M43K	probably benign	Het
Or8k23	G	A	2: 86,186,094 (GRCm39)	L211F	probably benign	Het
Palld	T	A	8: 62,140,415 (GRCm39)	T531S	probably benign	Het
Parp4	A	G	14: 56,823,195 (GRCm39)	E105G	probably benign	Het
Phf11a	A	T	14: 59,525,028 (GRCm39)	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Rad50	A	T	11: 53,541,480 (GRCm39)	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,624,761 (GRCm39)		probably null	Het
Rrbp1	G	A	2: 143,830,337 (GRCm39)	T610I	possibly damaging	Het
Scart2	T	C	7: 139,879,021 (GRCm39)	I1051T	probably benign	Het
Semp2l2a	C	T	8: 13,888,007 (GRCm39)	S28N	probably benign	Het
Slc4a10	A	G	2: 62,098,531 (GRCm39)	Y555C	probably damaging	Het
Slc5a2	A	G	7: 127,866,677 (GRCm39)		probably null	Het
Smoc1	T	A	12: 81,226,322 (GRCm39)	D371E	probably damaging	Het
Stmn1	T	A	4: 134,197,495 (GRCm39)		probably benign	Het
Sulf1	C	T	1: 12,912,910 (GRCm39)	L715F	probably benign	Het
Surf1	T	C	2: 26,804,255 (GRCm39)	T180A	possibly damaging	Het
Syne2	A	G	12: 76,026,593 (GRCm39)	I3474V	probably damaging	Het
Tchh	A	T	3: 93,352,455 (GRCm39)	R632W	unknown	Het
Tchh	A	T	3: 93,354,895 (GRCm39)	D1445V	unknown	Het
Tctn1	A	T	5: 122,383,568 (GRCm39)	M505K	probably benign	Het
Tdrkh	T	A	3: 94,332,897 (GRCm39)	I150N	probably damaging	Het
Tespa1	C	T	10: 130,198,028 (GRCm39)	T350I	probably benign	Het
Thbs1	A	G	2: 117,945,499 (GRCm39)	Y326C	possibly damaging	Het
Tmem208	C	T	8: 106,055,296 (GRCm39)	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,329,588 (GRCm39)	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,259,147 (GRCm39)	R67W	probably damaging	Het
Ttn	A	G	2: 76,541,541 (GRCm39)	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,265,468 (GRCm39)	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137 (GRCm39)	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,272,291 (GRCm39)	I82L	probably benign	Het
Zfp65	A	G	13: 67,856,994 (GRCm39)	V95A	probably benign	Het
Zfp985	T	A	4: 147,668,612 (GRCm39)	S493R	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
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'- CTACGGCAATGCTCAAAGTGTATC -3'
(R):5'- GAGGCACGTGACTTACATTCTC -3'

Sequencing Primer
(F):5'- GGCAATGCTCAAAGTGTATCATTCTC -3'
(R):5'- CGCTCCGGAATGTTTAAT -3'

Posted On

2016-03-01