Incidental Mutation 'R0544:Jak1'
ID 44664
Institutional Source Beutler Lab
Gene Symbol Jak1
Ensembl Gene ENSMUSG00000028530
Gene Name Janus kinase 1
Synonyms C130039L05Rik, BAP004
MMRRC Submission 038736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0544 (G1)
Quality Score 191
Status Validated
Chromosome 4
Chromosomal Location 101009564-101122479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101048822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 19 (M19L)
Ref Sequence ENSEMBL: ENSMUSP00000099842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102781] [ENSMUST00000149297]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000102781
AA Change: M19L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: M19L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000149297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155328
Meta Mutation Damage Score 0.1058 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Cln8 T A 8: 14,946,769 (GRCm39) V261E probably benign Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Col4a1 T G 8: 11,276,487 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Scube3 T C 17: 28,383,127 (GRCm39) F435S probably damaging Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Septin11 A G 5: 93,313,227 (GRCm39) E358G possibly damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc1a2 A T 2: 102,586,417 (GRCm39) R340S probably damaging Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H possibly damaging Het
Other mutations in Jak1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGGCTTCCAGAACTCACACCTTGC -3'
(R):5'- TGACTCCAGAGGAGAGCTTCCAAC -3'

Sequencing Primer
(F):5'- GAACTCACACCTTGCTCTCAG -3'
(R):5'- GAGAGCTTCCAACTACAACTAGTATG -3'
Posted On 2013-06-11