Incidental Mutation 'IGL01139:Jaml'
ID51998
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jaml
Ensembl Gene ENSMUSG00000048534
Gene Namejunction adhesion molecule like
SynonymsLOC270152, Amica1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01139
Quality Score
Status
Chromosome9
Chromosomal Location45079183-45108534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 45101019 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 268 (T268N)
Ref Sequence ENSEMBL: ENSMUSP00000150697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050020] [ENSMUST00000215880] [ENSMUST00000216426]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050020
AA Change: T268N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: T268N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
IG 30 139 5.7e-8 SMART
IG 143 254 9.26e-8 SMART
low complexity region 293 304 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215266
Predicted Effect possibly damaging
Transcript: ENSMUST00000215880
AA Change: T268N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000216426
Predicted Effect probably benign
Transcript: ENSMUST00000217074
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A T 1: 125,405,885 I215N probably damaging Het
Ambn C T 5: 88,464,517 probably benign Het
Arhgef1 T A 7: 24,925,951 probably benign Het
Arid1a A C 4: 133,693,997 S832R unknown Het
Clca4a A T 3: 144,966,269 I304N probably damaging Het
Dmxl2 G A 9: 54,458,964 P274S probably damaging Het
Eif4enif1 T A 11: 3,221,143 D211E probably damaging Het
Eri2 A G 7: 119,786,737 probably null Het
Fhod3 C T 18: 25,066,344 P691S probably benign Het
Flnb A G 14: 7,945,989 S2465G probably damaging Het
Ftsj1 G A X: 8,246,592 R171C probably damaging Het
Glb1l3 G A 9: 26,818,227 T648I probably benign Het
Gm4222 T A 2: 90,148,545 probably benign Het
Gm438 A T 4: 144,777,689 Y297* probably null Het
Gm5475 G A 15: 100,424,215 probably benign Het
Kank3 G A 17: 33,817,401 G81E probably damaging Het
Lrba A G 3: 86,642,662 T217A possibly damaging Het
Ltn1 A G 16: 87,416,009 S555P probably benign Het
Map3k15 T A X: 160,072,879 M350K probably damaging Het
Mipol1 C A 12: 57,306,035 Y53* probably null Het
Mn1 A G 5: 111,421,449 D1095G probably damaging Het
Myh14 T C 7: 44,606,292 probably benign Het
Nrn1 A G 13: 36,730,216 C31R probably damaging Het
Nup210 A T 6: 91,030,097 L579H possibly damaging Het
Nxf2 T C X: 134,950,396 I578V probably benign Het
Obscn G A 11: 59,078,352 A172V probably damaging Het
Olfr1006 T G 2: 85,674,497 Y218S probably damaging Het
Olfr55 T A 17: 33,176,782 Y123N probably damaging Het
Phtf1 A G 3: 104,005,602 D748G probably damaging Het
Psd3 A T 8: 67,908,535 Y863N probably damaging Het
Psmc6 C T 14: 45,343,710 T321I probably benign Het
Rassf6 T C 5: 90,608,966 *31W probably null Het
Rictor A C 15: 6,778,268 K791Q probably damaging Het
Slc12a9 C T 5: 137,322,842 M470I probably damaging Het
Tex28 A T X: 74,151,224 M367K possibly damaging Het
Thnsl2 A T 6: 71,138,734 V163D probably damaging Het
Tmco3 G A 8: 13,319,887 R633Q possibly damaging Het
Trf A T 9: 103,223,604 V224D probably damaging Het
Ttc8 C T 12: 98,964,545 Q273* probably null Het
Usp9x A G X: 13,104,576 probably benign Het
Vmn2r117 A G 17: 23,477,804 W210R probably damaging Het
Vmn2r5 A G 3: 64,491,405 S718P probably benign Het
Vps13a T C 19: 16,640,625 D2932G probably damaging Het
Whamm T C 7: 81,595,914 L706P probably damaging Het
Yeats2 G A 16: 20,214,393 V45I probably damaging Het
Yipf3 G A 17: 46,250,457 probably null Het
Zeb1 T C 18: 5,705,061 V26A possibly damaging Het
Other mutations in Jaml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Jaml APN 9 45100989 unclassified probably benign
IGL00771:Jaml APN 9 45093807 missense possibly damaging 0.94
IGL02669:Jaml APN 9 45104191 missense possibly damaging 0.68
IGL03405:Jaml APN 9 45093809 missense possibly damaging 0.61
R0207:Jaml UTSW 9 45093767 missense probably benign 0.01
R1962:Jaml UTSW 9 45104197 missense possibly damaging 0.80
R2119:Jaml UTSW 9 45101064 missense probably damaging 1.00
R2120:Jaml UTSW 9 45101064 missense probably damaging 1.00
R2124:Jaml UTSW 9 45101064 missense probably damaging 1.00
R2358:Jaml UTSW 9 45101063 missense possibly damaging 0.95
R3917:Jaml UTSW 9 45101151 unclassified probably benign
R4801:Jaml UTSW 9 45101064 missense possibly damaging 0.57
R4802:Jaml UTSW 9 45101064 missense possibly damaging 0.57
R5224:Jaml UTSW 9 45104266 missense probably damaging 1.00
R5739:Jaml UTSW 9 45088728 missense probably damaging 1.00
R5760:Jaml UTSW 9 45097754 missense probably benign 0.02
R6033:Jaml UTSW 9 45088710 missense probably damaging 1.00
R6033:Jaml UTSW 9 45088710 missense probably damaging 1.00
R6174:Jaml UTSW 9 45088773 missense probably damaging 1.00
R6245:Jaml UTSW 9 45097919 missense probably damaging 1.00
R6753:Jaml UTSW 9 45107379 missense probably benign 0.43
R6797:Jaml UTSW 9 45088760 missense probably damaging 1.00
Posted On2013-06-21