Incidental Mutation 'IGL00906:Jak1'
ID 27215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jak1
Ensembl Gene ENSMUSG00000028530
Gene Name Janus kinase 1
Synonyms C130039L05Rik, BAP004
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00906
Quality Score
Status
Chromosome 4
Chromosomal Location 101009564-101122479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101011826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1092 (G1092D)
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

DomainStartEndE-ValueType
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: G1092D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: G1092D

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: ENSMUST00000151235
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs A G 5: 125,580,338 (GRCm39) E221G probably benign Het
Alb A G 5: 90,619,932 (GRCm39) N453S probably benign Het
Bckdha C T 7: 25,332,767 (GRCm39) V183M probably benign Het
Brpf3 A G 17: 29,055,674 (GRCm39) probably benign Het
Ccdc163 T C 4: 116,567,487 (GRCm39) probably null Het
Ccdc178 A T 18: 22,268,225 (GRCm39) C87* probably null Het
Cfhr4 A T 1: 139,659,312 (GRCm39) V739E probably damaging Het
Clca4a A G 3: 144,660,700 (GRCm39) V708A probably damaging Het
Cyfip2 A G 11: 46,091,512 (GRCm39) V1136A possibly damaging Het
Dnah11 A C 12: 117,874,937 (GRCm39) L3976R probably damaging Het
Erich1 A G 8: 14,083,770 (GRCm39) probably benign Het
Fam228a A T 12: 4,782,773 (GRCm39) Y107N possibly damaging Het
Iars2 A T 1: 185,028,600 (GRCm39) probably benign Het
Ifi204 A G 1: 173,587,197 (GRCm39) probably benign Het
Ifih1 A T 2: 62,476,168 (GRCm39) I36N probably benign Het
Kir3dl2 G A X: 135,357,097 (GRCm39) P122S probably damaging Het
Nacc2 T C 2: 25,951,678 (GRCm39) T386A probably damaging Het
Nrf1 C T 6: 30,098,477 (GRCm39) T135M probably damaging Het
Or4k15 A G 14: 50,364,214 (GRCm39) Y60C probably damaging Het
Or51i2 G A 7: 103,689,051 (GRCm39) G16D probably damaging Het
Pcca A C 14: 122,927,545 (GRCm39) D436A probably benign Het
Pcdhb11 A T 18: 37,555,174 (GRCm39) Q168L possibly damaging Het
Pdgfra A G 5: 75,340,834 (GRCm39) I598V probably benign Het
Pla2g6 C T 15: 79,171,947 (GRCm39) V637I probably damaging Het
Plac1 A C X: 52,159,593 (GRCm39) V39G probably damaging Het
Pparg A G 6: 115,416,822 (GRCm39) E5G probably damaging Het
Ppp1r9a A G 6: 5,157,023 (GRCm39) D967G possibly damaging Het
Rel T C 11: 23,694,266 (GRCm39) T322A probably benign Het
Sgk3 A G 1: 9,947,470 (GRCm39) T137A probably benign Het
Sgpp2 A G 1: 78,367,184 (GRCm39) R106G probably benign Het
Slc27a5 T A 7: 12,724,984 (GRCm39) M459L probably benign Het
Snx21 T C 2: 164,628,140 (GRCm39) L52P probably damaging Het
Srarp G A 4: 141,160,584 (GRCm39) T83M probably benign Het
Sstr2 A G 11: 113,515,821 (GRCm39) R247G probably benign Het
Tnpo3 G A 6: 29,589,047 (GRCm39) S101L probably damaging Het
Zan A G 5: 137,387,622 (GRCm39) I4863T unknown Het
Other mutations in Jak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17