Incidental Mutation 'IGL03301:Jak1'
ID 416233
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 # IGL03301
Quality Score
Status
Chromosome 4
Chromosomal Location 101009564-101122479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101032370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 412 (Y412C)
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: Y412C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099842
Gene: ENSMUSG00000028530
AA Change: Y412C

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: ENSMUST00000136167
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,855,263 (GRCm39) E418G probably damaging Het
Arl14 T C 3: 69,130,276 (GRCm39) F141S probably damaging Het
C1s1 A T 6: 124,518,283 (GRCm39) probably benign Het
Cilp T C 9: 65,187,499 (GRCm39) V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 (GRCm39) I129K probably benign Het
Ctdp1 G A 18: 80,492,849 (GRCm39) Q549* probably null Het
Cyp2ab1 T A 16: 20,132,549 (GRCm39) I250F possibly damaging Het
Dmd G A X: 82,952,120 (GRCm39) R1765Q probably damaging Het
Dnah1 C T 14: 31,014,649 (GRCm39) G1739R probably damaging Het
Eml6 T C 11: 29,714,083 (GRCm39) K1350E probably benign Het
Ephx4 C A 5: 107,574,730 (GRCm39) T256K probably benign Het
Fnd3c2 G T X: 105,295,869 (GRCm39) Q49K probably benign Het
Heatr1 G T 13: 12,449,086 (GRCm39) G1889W probably damaging Het
Igkv19-93 A T 6: 68,713,465 (GRCm39) W55R probably damaging Het
Moxd1 A T 10: 24,155,382 (GRCm39) N261I probably damaging Het
Mrgpra1 T C 7: 46,985,164 (GRCm39) N172D probably benign Het
Papolg T C 11: 23,824,503 (GRCm39) N293S probably benign Het
Piezo2 A G 18: 63,160,775 (GRCm39) S2294P probably damaging Het
Ppp3cb A T 14: 20,574,052 (GRCm39) V262D probably damaging Het
Rhox7a A G X: 36,928,888 (GRCm39) T235A probably benign Het
Saal1 A G 7: 46,351,944 (GRCm39) probably benign Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Slc22a2 A G 17: 12,824,926 (GRCm39) R263G probably damaging Het
Speer3 T A 5: 13,845,447 (GRCm39) L160H probably damaging Het
Tmcc2 T C 1: 132,288,557 (GRCm39) M377V possibly damaging Het
Tsen2 T G 6: 115,545,732 (GRCm39) Y341D probably damaging Het
Vmn2r13 A T 5: 109,305,955 (GRCm39) V541D probably damaging Het
Vmn2r15 A G 5: 109,445,221 (GRCm39) probably null Het
Zfp711 T C X: 111,543,098 (GRCm39) Y710H probably damaging Het
Zmiz2 C T 11: 6,351,170 (GRCm39) T566M probably 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
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 2016-08-02