Incidental Mutation 'R8928:Ajm1'
ID 692948
Institutional Source Beutler Lab
Gene Symbol Ajm1
Ensembl Gene ENSMUSG00000029419
Gene Name apical junction component 1
Synonyms Gm996, LOC381353
MMRRC Submission 068772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8928 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25465428-25471760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25468577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 445 (Y445H)
Ref Sequence ENSEMBL: ENSMUSP00000109855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000187017] [ENSMUST00000188161] [ENSMUST00000191602]
AlphaFold A2AJA9
Predicted Effect probably benign
Transcript: ENSMUST00000039156
SMART Domains Protein: ENSMUSP00000037417
Gene: ENSMUSG00000036504

DomainStartEndE-ValueType
Pfam:Ocnus 5 116 1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058137
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

DomainStartEndE-ValueType
Pfam:Ras 45 108 1.5e-7 PFAM
Pfam:Roc 45 112 2.2e-8 PFAM
low complexity region 232 245 N/A INTRINSIC
low complexity region 291 325 N/A INTRINSIC
low complexity region 343 364 N/A INTRINSIC
low complexity region 378 397 N/A INTRINSIC
low complexity region 480 492 N/A INTRINSIC
coiled coil region 653 669 N/A INTRINSIC
low complexity region 708 720 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114217
AA Change: Y445H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: Y445H

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187017
Predicted Effect possibly damaging
Transcript: ENSMUST00000188161
AA Change: Y445H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: Y445H

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000191602
AA Change: Y445H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: Y445H

DomainStartEndE-ValueType
low complexity region 61 92 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 307 326 N/A INTRINSIC
low complexity region 617 636 N/A INTRINSIC
low complexity region 815 843 N/A INTRINSIC
low complexity region 880 894 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 C A 1: 179,596,626 (GRCm39) S1056I possibly damaging Het
Akap13 T A 7: 75,259,606 (GRCm39) D743E probably benign Het
Alas1 T A 9: 106,118,513 (GRCm39) H203L probably benign Het
Ankfn1 G A 11: 89,429,279 (GRCm39) T35I possibly damaging Het
Ankrd11 C T 8: 123,622,718 (GRCm39) R378K probably damaging Het
Arap1 G A 7: 101,057,324 (GRCm39) R1355Q possibly damaging Het
Cabp7 T A 11: 4,696,640 (GRCm39) I30F possibly damaging Het
Ccdc113 T C 8: 96,267,584 (GRCm39) probably null Het
Ccdc162 T A 10: 41,462,245 (GRCm39) probably benign Het
Cdh1 ACTCGAAATGATGTGGCTC ACTC 8: 107,392,870 (GRCm39) probably benign Het
Cep85 G T 4: 133,859,715 (GRCm39) H651Q probably benign Het
Cfap43 T A 19: 47,804,399 (GRCm39) I266L probably benign Het
Crybg3 T C 16: 59,315,123 (GRCm39) T1179A probably benign Het
Crybg3 A G 16: 59,376,715 (GRCm39) V1513A probably benign Het
Csmd2 G T 4: 128,369,582 (GRCm39) V1905L Het
D630003M21Rik T C 2: 158,059,447 (GRCm39) E151G probably damaging Het
Dnah10 A T 5: 124,866,828 (GRCm39) Y2306F probably damaging Het
Dpy19l4 A T 4: 11,304,674 (GRCm39) probably benign Het
Dsc1 G T 18: 20,243,225 (GRCm39) T76K probably benign Het
Egfem1 A C 3: 29,744,561 (GRCm39) *591C probably null Het
Elapor2 T A 5: 9,496,979 (GRCm39) H814Q possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Fn1 T C 1: 71,641,777 (GRCm39) probably benign Het
Fsd2 T C 7: 81,209,354 (GRCm39) T163A probably benign Het
Gm45844 A G 7: 7,281,094 (GRCm39) probably benign Het
Grid1 T A 14: 35,302,723 (GRCm39) V996D probably benign Het
Hepacam2 C A 6: 3,467,623 (GRCm39) probably null Het
Hira A G 16: 18,716,537 (GRCm39) T101A probably benign Het
Ighv8-9 T A 12: 115,432,204 (GRCm39) T36S possibly damaging Het
Lama5 A T 2: 179,843,832 (GRCm39) C413S probably damaging Het
Lpcat2b G T 5: 107,580,913 (GRCm39) V81L probably benign Het
Map1b C G 13: 99,568,624 (GRCm39) E1366Q unknown Het
Marchf4 C A 1: 72,574,035 (GRCm39) A88S probably benign Het
Mbnl2 A G 14: 120,633,974 (GRCm39) T324A probably benign Het
Mipol1 T A 12: 57,507,651 (GRCm39) M387K probably benign Het
Mtor T C 4: 148,623,356 (GRCm39) S2069P probably damaging Het
Mycbp2 T A 14: 103,393,781 (GRCm39) T2927S probably benign Het
Nfatc1 A T 18: 80,741,180 (GRCm39) N273K possibly damaging Het
Or10p22 T C 10: 128,826,317 (GRCm39) C179R probably damaging Het
Or2i1 T A 17: 37,507,861 (GRCm39) T258S probably damaging Het
Or5k15 T A 16: 58,709,750 (GRCm39) T278S possibly damaging Het
Or5v1 A T 17: 37,809,583 (GRCm39) I14F probably damaging Het
Or7a36 A G 10: 78,820,547 (GRCm39) K308E Het
Or8b49 A T 9: 38,505,662 (GRCm39) L48F probably damaging Het
Parp16 A G 9: 65,133,396 (GRCm39) D79G probably benign Het
Ppp4r3b T C 11: 29,144,598 (GRCm39) V316A probably benign Het
Ptcd2 G A 13: 99,476,505 (GRCm39) T78I probably damaging Het
Rbpjl A G 2: 164,250,313 (GRCm39) Y155C probably damaging Het
Slc5a7 G T 17: 54,591,258 (GRCm39) Q225K possibly damaging Het
Stom T C 2: 35,205,937 (GRCm39) N264S probably damaging Het
Tbc1d2b C T 9: 90,108,190 (GRCm39) E454K probably damaging Het
Tmem209 C T 6: 30,489,365 (GRCm39) C495Y probably damaging Het
Tnn T C 1: 159,953,099 (GRCm39) D647G probably damaging Het
Vmn2r44 A T 7: 8,381,101 (GRCm39) V264E probably damaging Het
Wscd2 A T 5: 113,715,401 (GRCm39) I414F possibly damaging Het
Xkr5 A G 8: 18,983,787 (GRCm39) V585A probably benign Het
Zfp456 G A 13: 67,514,603 (GRCm39) R368C probably benign Het
Zscan18 G A 7: 12,509,120 (GRCm39) Q127* probably null Het
Other mutations in Ajm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Ajm1 APN 2 25,469,419 (GRCm39) missense probably damaging 0.97
IGL01370:Ajm1 APN 2 25,468,969 (GRCm39) missense possibly damaging 0.82
IGL01973:Ajm1 APN 2 25,469,584 (GRCm39) nonsense probably null
IGL01987:Ajm1 APN 2 25,467,970 (GRCm39) missense possibly damaging 0.82
IGL02534:Ajm1 APN 2 25,467,043 (GRCm39) nonsense probably null
R0457:Ajm1 UTSW 2 25,468,358 (GRCm39) missense possibly damaging 0.66
R0799:Ajm1 UTSW 2 25,468,574 (GRCm39) missense possibly damaging 0.83
R0931:Ajm1 UTSW 2 25,468,501 (GRCm39) missense possibly damaging 0.82
R1243:Ajm1 UTSW 2 25,468,570 (GRCm39) missense possibly damaging 0.66
R1477:Ajm1 UTSW 2 25,469,765 (GRCm39) missense possibly damaging 0.66
R1559:Ajm1 UTSW 2 25,467,043 (GRCm39) nonsense probably null
R1661:Ajm1 UTSW 2 25,469,167 (GRCm39) missense possibly damaging 0.90
R1796:Ajm1 UTSW 2 25,468,000 (GRCm39) missense probably damaging 1.00
R3955:Ajm1 UTSW 2 25,467,583 (GRCm39) nonsense probably null
R4005:Ajm1 UTSW 2 25,468,868 (GRCm39) missense probably benign 0.01
R4342:Ajm1 UTSW 2 25,469,120 (GRCm39) missense possibly damaging 0.92
R4579:Ajm1 UTSW 2 25,469,661 (GRCm39) missense possibly damaging 0.66
R4621:Ajm1 UTSW 2 25,468,412 (GRCm39) missense probably damaging 0.96
R4770:Ajm1 UTSW 2 25,469,759 (GRCm39) missense possibly damaging 0.94
R4834:Ajm1 UTSW 2 25,469,530 (GRCm39) missense possibly damaging 0.82
R4860:Ajm1 UTSW 2 25,468,765 (GRCm39) missense probably damaging 0.99
R4860:Ajm1 UTSW 2 25,468,765 (GRCm39) missense probably damaging 0.99
R4887:Ajm1 UTSW 2 25,469,759 (GRCm39) missense possibly damaging 0.94
R4888:Ajm1 UTSW 2 25,469,759 (GRCm39) missense possibly damaging 0.94
R5472:Ajm1 UTSW 2 25,469,714 (GRCm39) missense probably benign
R5632:Ajm1 UTSW 2 25,469,276 (GRCm39) missense probably benign
R6816:Ajm1 UTSW 2 25,469,733 (GRCm39) frame shift probably null
R6818:Ajm1 UTSW 2 25,469,733 (GRCm39) frame shift probably null
R6861:Ajm1 UTSW 2 25,469,733 (GRCm39) frame shift probably null
R7164:Ajm1 UTSW 2 25,468,579 (GRCm39) missense possibly damaging 0.66
R7543:Ajm1 UTSW 2 25,467,410 (GRCm39) missense possibly damaging 0.81
R7748:Ajm1 UTSW 2 25,468,971 (GRCm39) missense possibly damaging 0.46
R7783:Ajm1 UTSW 2 25,467,820 (GRCm39) missense probably damaging 0.97
R7826:Ajm1 UTSW 2 25,468,477 (GRCm39) missense possibly damaging 0.66
R8117:Ajm1 UTSW 2 25,469,246 (GRCm39) missense probably benign 0.27
R8694:Ajm1 UTSW 2 25,469,831 (GRCm39) missense possibly damaging 0.83
R8708:Ajm1 UTSW 2 25,467,814 (GRCm39) missense possibly damaging 0.66
R8830:Ajm1 UTSW 2 25,467,262 (GRCm39) missense
R8904:Ajm1 UTSW 2 25,467,914 (GRCm39) missense probably benign 0.27
R9253:Ajm1 UTSW 2 25,467,172 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GTAATCTCTGGCGTGACGTACC -3'
(R):5'- TGTACTGGCTCGGACTTACC -3'

Sequencing Primer
(F):5'- CTGGCGTGACGTACCAGTTG -3'
(R):5'- GGACTTACCCGCACCCG -3'
Posted On 2022-01-20