Incidental Mutation 'R6033:Jaml'
ID 486392
Institutional Source Beutler Lab
Gene Symbol Jaml
Ensembl Gene ENSMUSG00000048534
Gene Name junction adhesion molecule like
Synonyms Amica1, LOC270152
MMRRC Submission 044205-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6033 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44990481-45019832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45000008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 60 (G60D)
Ref Sequence ENSEMBL: ENSMUSP00000150449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050020] [ENSMUST00000215880] [ENSMUST00000216426]
AlphaFold Q80UL9
Predicted Effect probably damaging
Transcript: ENSMUST00000050020
AA Change: G102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: G102D

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 probably damaging
Transcript: ENSMUST00000215880
AA Change: G102D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216333
Predicted Effect probably damaging
Transcript: ENSMUST00000216426
AA Change: G60D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5658 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 T A 8: 84,645,551 (GRCm39) V58E probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alas1 A G 9: 106,118,403 (GRCm39) S240P probably damaging Het
Alox12e C T 11: 70,206,839 (GRCm39) G616D probably benign Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Ccdc150 G T 1: 54,324,787 (GRCm39) probably null Het
Chct1 A G 11: 85,069,198 (GRCm39) E72G probably damaging Het
Cmtm8 T C 9: 114,625,141 (GRCm39) T97A probably damaging Het
Cnmd T C 14: 79,898,945 (GRCm39) S36G probably benign Het
Dnah3 A C 7: 119,670,870 (GRCm39) N609K probably benign Het
Dph1 C T 11: 75,082,023 (GRCm39) probably benign Het
Drosha G A 15: 12,926,085 (GRCm39) A1225T probably benign Het
Eid3 T A 10: 82,703,487 (GRCm39) I316K probably damaging Het
Erich6 A G 3: 58,530,622 (GRCm39) L449S probably benign Het
Fhod1 T C 8: 106,063,066 (GRCm39) probably benign Het
Glra1 A G 11: 55,418,245 (GRCm39) Y250H probably damaging Het
Gm21972 T C 1: 86,064,817 (GRCm39) Y950H probably damaging Het
Gm6712 T A 17: 17,514,678 (GRCm39) noncoding transcript Het
Grb7 C T 11: 98,346,023 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,583 (GRCm39) E941G probably benign Het
Homer2 A C 7: 81,268,427 (GRCm39) S78A possibly damaging Het
Ica1 T A 6: 8,630,799 (GRCm39) probably null Het
Ifna12 T C 4: 88,521,154 (GRCm39) E131G possibly damaging Het
Igbp1b T C 6: 138,635,207 (GRCm39) Y79C probably damaging Het
Incenp C T 19: 9,850,061 (GRCm39) V871I probably damaging Het
Kcp C T 6: 29,493,193 (GRCm39) C110Y probably damaging Het
Manba T C 3: 135,255,022 (GRCm39) V460A probably benign Het
Myrfl A T 10: 116,685,006 (GRCm39) C125S probably benign Het
Ncan T C 8: 70,565,240 (GRCm39) D229G probably damaging Het
Ncoa4-ps A G 12: 119,225,475 (GRCm39) noncoding transcript Het
Nlrp10 A T 7: 108,523,784 (GRCm39) D565E probably benign Het
Npas2 T C 1: 39,377,261 (GRCm39) V541A probably damaging Het
Nsg2 G A 11: 32,005,058 (GRCm39) V87M possibly damaging Het
Or5al6 A T 2: 85,976,613 (GRCm39) V155E probably damaging Het
Prkd2 C T 7: 16,599,639 (GRCm39) R701C probably damaging Het
Prr3 A T 17: 36,289,516 (GRCm39) probably null Het
Prr5 A G 15: 84,626,126 (GRCm39) E67G probably damaging Het
Prss36 T C 7: 127,533,739 (GRCm39) R22G probably benign Het
Slc45a4 G A 15: 73,453,825 (GRCm39) A716V probably damaging Het
Slc46a1 T C 11: 78,356,833 (GRCm39) probably null Het
Slc6a5 T C 7: 49,609,099 (GRCm39) I768T probably benign Het
Slco6c1 C T 1: 97,009,041 (GRCm39) probably null Het
Taar2 A T 10: 23,816,874 (GRCm39) H138L probably benign Het
Taf2 A C 15: 54,922,297 (GRCm39) L330R probably damaging Het
Tgm5 T C 2: 120,901,210 (GRCm39) probably null Het
Tmed4 A T 11: 6,224,491 (GRCm39) Y56* probably null Het
Tmem156 A T 5: 65,232,964 (GRCm39) F135L probably benign Het
Ttll6 T C 11: 96,025,713 (GRCm39) S65P probably damaging Het
Ttn C T 2: 76,557,171 (GRCm39) G28199R probably damaging Het
Ubn2 T A 6: 38,447,159 (GRCm39) probably null Het
Unc80 A T 1: 66,512,419 (GRCm39) T110S possibly damaging Het
Vmn2r72 A T 7: 85,387,137 (GRCm39) V809E probably damaging Het
Zbtb2 A G 10: 4,318,599 (GRCm39) F476L probably damaging Het
Zbtb24 T C 10: 41,340,397 (GRCm39) F498L probably damaging Het
Zfp280d T A 9: 72,236,419 (GRCm39) L494Q probably damaging Het
Zfp281 T C 1: 136,554,464 (GRCm39) S481P probably benign Het
Other mutations in Jaml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Jaml APN 9 45,012,287 (GRCm39) unclassified probably benign
IGL00771:Jaml APN 9 45,005,105 (GRCm39) missense possibly damaging 0.94
IGL01139:Jaml APN 9 45,012,317 (GRCm39) missense possibly damaging 0.91
IGL02669:Jaml APN 9 45,015,489 (GRCm39) missense possibly damaging 0.68
IGL03405:Jaml APN 9 45,005,107 (GRCm39) missense possibly damaging 0.61
R0207:Jaml UTSW 9 45,005,065 (GRCm39) missense probably benign 0.01
R1962:Jaml UTSW 9 45,015,495 (GRCm39) missense possibly damaging 0.80
R2119:Jaml UTSW 9 45,012,362 (GRCm39) missense probably damaging 1.00
R2120:Jaml UTSW 9 45,012,362 (GRCm39) missense probably damaging 1.00
R2124:Jaml UTSW 9 45,012,362 (GRCm39) missense probably damaging 1.00
R2358:Jaml UTSW 9 45,012,361 (GRCm39) missense possibly damaging 0.95
R3917:Jaml UTSW 9 45,012,449 (GRCm39) unclassified probably benign
R4801:Jaml UTSW 9 45,012,362 (GRCm39) missense possibly damaging 0.57
R4802:Jaml UTSW 9 45,012,362 (GRCm39) missense possibly damaging 0.57
R5224:Jaml UTSW 9 45,015,564 (GRCm39) missense probably damaging 1.00
R5739:Jaml UTSW 9 45,000,026 (GRCm39) missense probably damaging 1.00
R5760:Jaml UTSW 9 45,009,052 (GRCm39) missense probably benign 0.02
R6033:Jaml UTSW 9 45,000,008 (GRCm39) missense probably damaging 1.00
R6174:Jaml UTSW 9 45,000,071 (GRCm39) missense probably damaging 1.00
R6245:Jaml UTSW 9 45,009,217 (GRCm39) missense probably damaging 1.00
R6753:Jaml UTSW 9 45,018,677 (GRCm39) missense probably benign 0.43
R6797:Jaml UTSW 9 45,000,058 (GRCm39) missense probably damaging 1.00
R8184:Jaml UTSW 9 45,000,110 (GRCm39) missense probably damaging 1.00
R9642:Jaml UTSW 9 45,000,116 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTGTGCAAGCTAGACAGGTACC -3'
(R):5'- GCAATCAGTTCTCCTCTGGC -3'

Sequencing Primer
(F):5'- CAGGTACCTGTTGCATTTTCATTATG -3'
(R):5'- GGCCCCTCTTTCAGGTAAGTGAC -3'
Posted On 2017-08-16