Incidental Mutation 'R0931:Ajm1'
ID 80853
Institutional Source Beutler Lab
Gene Symbol Ajm1
Ensembl Gene ENSMUSG00000029419
Gene Name apical junction component 1
Synonyms Gm996, LOC381353
MMRRC Submission 039075-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0931 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25465428-25471760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25468501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 470 (E470G)
Ref Sequence ENSEMBL: ENSMUSP00000140109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000191602] [ENSMUST00000188161] [ENSMUST00000187017]
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: E470G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: E470G

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 noncoding transcript
Transcript: ENSMUST00000142811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181730
Predicted Effect possibly damaging
Transcript: ENSMUST00000191602
AA Change: E470G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: E470G

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: ENSMUST00000188161
AA Change: E470G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: E470G

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
Meta Mutation Damage Score 0.2008 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,168,084 (GRCm39) A476T probably benign Het
Aknad1 T C 3: 108,659,339 (GRCm39) S118P probably damaging Het
Arhgap20 A G 9: 51,728,041 (GRCm39) T85A probably benign Het
Astn2 A G 4: 65,566,530 (GRCm39) L824P probably damaging Het
Ccr1 C A 9: 123,763,827 (GRCm39) K234N probably damaging Het
Cfap46 T C 7: 139,235,757 (GRCm39) R203G probably damaging Het
Col8a1 A G 16: 57,448,931 (GRCm39) I193T unknown Het
Cpa2 T C 6: 30,552,070 (GRCm39) probably benign Het
Crabp1 T C 9: 54,675,717 (GRCm39) L100P possibly damaging Het
Cspp1 A T 1: 10,174,511 (GRCm39) R655W probably damaging Het
Ddx1 A T 12: 13,287,818 (GRCm39) probably benign Het
Dnah7b T G 1: 46,138,772 (GRCm39) probably benign Het
Dzip3 A G 16: 48,771,921 (GRCm39) S583P probably damaging Het
Exosc1 A G 19: 41,921,676 (GRCm39) probably benign Het
Fhip1a A G 3: 85,580,550 (GRCm39) S552P probably benign Het
Gas7 A T 11: 67,543,751 (GRCm39) probably benign Het
Gss A T 2: 155,409,609 (GRCm39) probably benign Het
Hdhd3 G A 4: 62,417,757 (GRCm39) R140* probably null Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kcnf1 T C 12: 17,225,142 (GRCm39) S360G possibly damaging Het
Klk1b4 T C 7: 43,860,480 (GRCm39) L166P probably damaging Het
Klri1 A T 6: 129,674,381 (GRCm39) probably benign Het
Mettl27 T C 5: 134,963,285 (GRCm39) probably benign Het
Myrfl T A 10: 116,675,354 (GRCm39) H193L probably benign Het
Nbas C T 12: 13,381,115 (GRCm39) probably benign Het
Or10ac1 C A 6: 42,515,020 (GRCm39) R312L probably benign Het
Or52b2 A T 7: 104,986,736 (GRCm39) Y62* probably null Het
Papolg A G 11: 23,832,257 (GRCm39) I177T probably damaging Het
Pdcd1 A G 1: 93,967,238 (GRCm39) V220A probably benign Het
Psmc1 T C 12: 100,085,341 (GRCm39) L234P probably damaging Het
Rasa2 A T 9: 96,434,457 (GRCm39) M610K possibly damaging Het
Ryr3 A G 2: 112,484,047 (GRCm39) F3930S probably damaging Het
Sacs G A 14: 61,440,944 (GRCm39) V997I probably benign Het
Setdb2 A G 14: 59,660,945 (GRCm39) probably benign Het
Ssu2 C A 6: 112,361,359 (GRCm39) L32F probably damaging Het
Taar1 A T 10: 23,797,181 (GRCm39) N293I probably damaging Het
Ttn A G 2: 76,611,846 (GRCm39) probably benign Het
Vmn2r49 T C 7: 9,720,325 (GRCm39) M389V possibly damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Zfp324 A G 7: 12,700,185 (GRCm39) I15V probably benign 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
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
R8928:Ajm1 UTSW 2 25,468,577 (GRCm39) missense possibly damaging 0.92
R9253:Ajm1 UTSW 2 25,467,172 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TGAGTCGATGACCAGGTCAGTGATG -3'
(R):5'- CCTTACCGCACCCTTCAGGTAATG -3'

Sequencing Primer
(F):5'- AATCTCTGGCGTGACGTACC -3'
(R):5'- TTCAGGTAATGCCGCCTC -3'
Posted On 2013-11-07