Incidental Mutation 'R6174:Jaml'
ID 488201
Institutional Source Beutler Lab
Gene Symbol Jaml
Ensembl Gene ENSMUSG00000048534
Gene Name junction adhesion molecule like
Synonyms Amica1, LOC270152
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6174 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44990481-45019832 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45000071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 81 (L81P)
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: L123P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: L123P

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: L123P

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: L81P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Ckap5 A G 2: 91,398,564 (GRCm39) E578G probably benign Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or1a1b A T 11: 74,097,466 (GRCm39) I192N probably damaging Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pcdhb13 A T 18: 37,576,474 (GRCm39) D284V possibly damaging Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prc1 G A 7: 79,954,544 (GRCm39) S165N probably benign Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Sdhc A T 1: 170,966,271 (GRCm39) L78* probably null Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) 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
R6033:Jaml UTSW 9 45,000,008 (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'- CCAGAGTCCTAGGTCTTGTTCC -3'
(R):5'- TGAAGACTCGCCCTAAGGTG -3'

Sequencing Primer
(F):5'- CTCCAATGTCTGTTATTTGCAGAG -3'
(R):5'- GCCCTAAGGTGAGTACTTAGC -3'
Posted On 2017-10-10