Incidental Mutation 'R6753:Jaml'
ID 530902
Institutional Source Beutler Lab
Gene Symbol Jaml
Ensembl Gene ENSMUSG00000048534
Gene Name junction adhesion molecule like
Synonyms LOC270152, Amica1
MMRRC Submission 044870-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R6753 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45079183-45108534 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45107379 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 359 (N359D)
Ref Sequence ENSEMBL: ENSMUSP00000150697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050020] [ENSMUST00000215880]
AlphaFold Q80UL9
Predicted Effect probably benign
Transcript: ENSMUST00000050020
AA Change: N359D

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: N359D

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: ENSMUST00000098827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215266
Predicted Effect probably benign
Transcript: ENSMUST00000215880
AA Change: N359D

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000217074
AA Change: N92D
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217151
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G A 11: 120,010,151 (GRCm38) P1083S probably benign Het
Abcb5 T A 12: 118,944,906 (GRCm38) N101I possibly damaging Het
Adrb2 A G 18: 62,179,553 (GRCm38) V67A possibly damaging Het
Agk T A 6: 40,368,570 (GRCm38) probably null Het
Akap10 A T 11: 61,886,777 (GRCm38) M586K probably damaging Het
Akt3 A T 1: 177,050,190 (GRCm38) Y337* probably null Het
Armc1 A G 3: 19,144,398 (GRCm38) F133L possibly damaging Het
Bank1 T C 3: 136,093,308 (GRCm38) E424G probably damaging Het
Cacna1a A G 8: 84,580,205 (GRCm38) E1363G probably damaging Het
Cacna1d C A 14: 30,042,786 (GRCm38) A2076S probably damaging Het
Ccdc73 T A 2: 104,991,524 (GRCm38) L606* probably null Het
Ccdc8 C T 7: 16,996,637 (GRCm38) Q684* probably null Het
Ces1b T A 8: 93,067,020 (GRCm38) K314* probably null Het
Ces1e T A 8: 93,215,128 (GRCm38) N238I probably damaging Het
Chd4 A G 6: 125,114,300 (GRCm38) N1238S probably benign Het
Cmtr2 T A 8: 110,222,979 (GRCm38) D640E probably damaging Het
Col7a1 C T 9: 108,958,128 (GRCm38) T559I unknown Het
Comt T C 16: 18,408,021 (GRCm38) K205R probably benign Het
Dbp A T 7: 45,708,404 (GRCm38) E232V probably damaging Het
Dcbld2 A G 16: 58,456,130 (GRCm38) T470A possibly damaging Het
Eml6 T A 11: 29,754,987 (GRCm38) D1519V probably damaging Het
Evpl T A 11: 116,237,906 (GRCm38) H31L possibly damaging Het
Exoc1 T A 5: 76,563,339 (GRCm38) I86N probably damaging Het
Fat3 C T 9: 15,915,061 (GRCm38) E4532K possibly damaging Het
Fgfr3 T C 5: 33,732,159 (GRCm38) S301P probably benign Het
Gas2l1 C T 11: 5,064,254 (GRCm38) V69I probably damaging Het
Gm2042 T A 12: 87,958,084 (GRCm38) I107K probably damaging Het
Gucy1b1 T C 3: 82,039,747 (GRCm38) D385G probably null Het
Ints1 T A 5: 139,765,175 (GRCm38) E824D probably damaging Het
Itfg1 T C 8: 85,835,078 (GRCm38) D142G probably benign Het
Kcnh7 T A 2: 62,850,377 (GRCm38) I289L probably benign Het
Klf12 G A 14: 100,109,776 (GRCm38) Q40* probably null Het
Mcm4 A C 16: 15,629,362 (GRCm38) N579K possibly damaging Het
Mfsd2b A T 12: 4,867,358 (GRCm38) F179I possibly damaging Het
Mmp11 C T 10: 75,928,374 (GRCm38) V86M probably damaging Het
Mogs T C 6: 83,115,882 (GRCm38) V101A probably damaging Het
Narf T A 11: 121,242,626 (GRCm38) H84Q probably benign Het
Olfr987 C A 2: 85,331,798 (GRCm38) M33I probably benign Het
Otog A C 7: 46,249,071 (GRCm38) E204D probably benign Het
Parp8 G A 13: 116,895,115 (GRCm38) H354Y possibly damaging Het
Pcnx C A 12: 81,964,480 (GRCm38) D1238E probably damaging Het
Pi4ka A G 16: 17,376,982 (GRCm38) L184P possibly damaging Het
Pkd1l3 C T 8: 109,624,449 (GRCm38) T642I probably damaging Het
Pkhd1l1 G A 15: 44,589,663 (GRCm38) E3995K probably benign Het
Prdm9 A T 17: 15,544,956 (GRCm38) Y521N probably benign Het
Prex2 A G 1: 11,184,456 (GRCm38) S1105G probably damaging Het
Prss35 T A 9: 86,756,100 (GRCm38) F308I probably damaging Het
Rab22a C T 2: 173,701,055 (GRCm38) A167V probably benign Het
Rims2 A G 15: 39,566,973 (GRCm38) Q871R possibly damaging Het
Rorb A T 19: 18,957,247 (GRCm38) M253K probably benign Het
Ryr3 T C 2: 112,652,610 (GRCm38) D4269G probably damaging Het
Snx11 T C 11: 96,769,906 (GRCm38) probably benign Het
Son A G 16: 91,657,188 (GRCm38) Q941R probably damaging Het
Sptbn2 G T 19: 4,747,785 (GRCm38) R1880L probably benign Het
Sun1 G A 5: 139,215,259 (GRCm38) probably null Het
Tprn A G 2: 25,264,038 (GRCm38) R451G probably benign Het
Trbv30 T A 6: 41,281,377 (GRCm38) M1K probably null Het
Ttn C A 2: 76,738,221 (GRCm38) G25697W probably damaging Het
Ubb T G 11: 62,551,527 (GRCm38) probably null Het
Unc13b C T 4: 43,239,331 (GRCm38) R1038C probably damaging Het
Usp7 T C 16: 8,696,911 (GRCm38) M687V probably benign Het
Zfp160 G A 17: 21,020,734 (GRCm38) M21I probably benign Het
Zfp868 T C 8: 69,612,096 (GRCm38) N196S probably benign Het
Zufsp A T 10: 33,928,029 (GRCm38) I483N probably damaging Het
Other mutations in Jaml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Jaml APN 9 45,100,989 (GRCm38) unclassified probably benign
IGL00771:Jaml APN 9 45,093,807 (GRCm38) missense possibly damaging 0.94
IGL01139:Jaml APN 9 45,101,019 (GRCm38) missense possibly damaging 0.91
IGL02669:Jaml APN 9 45,104,191 (GRCm38) missense possibly damaging 0.68
IGL03405:Jaml APN 9 45,093,809 (GRCm38) missense possibly damaging 0.61
R0207:Jaml UTSW 9 45,093,767 (GRCm38) missense probably benign 0.01
R1962:Jaml UTSW 9 45,104,197 (GRCm38) missense possibly damaging 0.80
R2119:Jaml UTSW 9 45,101,064 (GRCm38) missense probably damaging 1.00
R2120:Jaml UTSW 9 45,101,064 (GRCm38) missense probably damaging 1.00
R2124:Jaml UTSW 9 45,101,064 (GRCm38) missense probably damaging 1.00
R2358:Jaml UTSW 9 45,101,063 (GRCm38) missense possibly damaging 0.95
R3917:Jaml UTSW 9 45,101,151 (GRCm38) unclassified probably benign
R4801:Jaml UTSW 9 45,101,064 (GRCm38) missense possibly damaging 0.57
R4802:Jaml UTSW 9 45,101,064 (GRCm38) missense possibly damaging 0.57
R5224:Jaml UTSW 9 45,104,266 (GRCm38) missense probably damaging 1.00
R5739:Jaml UTSW 9 45,088,728 (GRCm38) missense probably damaging 1.00
R5760:Jaml UTSW 9 45,097,754 (GRCm38) missense probably benign 0.02
R6033:Jaml UTSW 9 45,088,710 (GRCm38) missense probably damaging 1.00
R6033:Jaml UTSW 9 45,088,710 (GRCm38) missense probably damaging 1.00
R6174:Jaml UTSW 9 45,088,773 (GRCm38) missense probably damaging 1.00
R6245:Jaml UTSW 9 45,097,919 (GRCm38) missense probably damaging 1.00
R6797:Jaml UTSW 9 45,088,760 (GRCm38) missense probably damaging 1.00
R8184:Jaml UTSW 9 45,088,812 (GRCm38) missense probably damaging 1.00
R9642:Jaml UTSW 9 45,088,818 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACAGTGAAAGGCTGCTAC -3'
(R):5'- CGTCTTCAGCCTTTTGATGG -3'

Sequencing Primer
(F):5'- tgctaagccttatcccca -3'
(R):5'- GAAATTCCCCAAGGTGAC -3'
Posted On 2018-08-01