Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Jak1'

557716

Institutional Source

Beutler Lab

Gene Symbol

Jak1

Ensembl Gene

ENSMUSG00000028530

Gene Name

Janus kinase 1

Synonyms

C130039L05Rik, BAP004

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101009564-101122479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101032385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 407 (S407F)

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: S407F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: S407F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Cacnb1	A	G	11: 97,903,726 (GRCm39)	V109A	probably benign	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,933,571 (GRCm39)	V17A	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or2t48	C	A	11: 58,419,994 (GRCm39)	E273*	probably null	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Prkn	G	A	17: 12,280,434 (GRCm39)	C430Y	probably damaging	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	probably benign	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
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'- TGGCCACATGCAGAGCTAAG -3'
(R):5'- ATCAAGAAACCAAGGTGCTTGTATG -3'

Sequencing Primer
(F):5'- AGGGGACTTTCTACCTCTAAAACCTG -3'
(R):5'- CCAAGGTGCTTGTATGCCAGG -3'

Posted On

2019-06-26