Incidental Mutation 'R8904:Ajm1'
ID 678353
Institutional Source Beutler Lab
Gene Symbol Ajm1
Ensembl Gene ENSMUSG00000029419
Gene Name apical junction component 1
Synonyms Gm996, LOC381353
MMRRC Submission 068761-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8904 (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 T at 25467914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 666 (S666T)
Ref Sequence ENSEMBL: ENSMUSP00000109855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [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: ENSMUST00000114217
AA Change: S666T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: S666T

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 probably benign
Transcript: ENSMUST00000188161
AA Change: S666T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: S666T

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: ENSMUST00000191602
AA Change: S666T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: S666T

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA CCGGA 16: 21,472,148 (GRCm39) probably null Het
Adcy1 T G 11: 7,059,075 (GRCm39) L327R probably damaging Het
Amotl1 T C 9: 14,469,861 (GRCm39) Q624R probably damaging Het
Ampd1 A G 3: 102,988,374 (GRCm39) T106A probably benign Het
Aqr T A 2: 113,967,474 (GRCm39) I514F probably damaging Het
Atp2b1 A G 10: 98,804,866 (GRCm39) T30A possibly damaging Het
Atp9a A T 2: 168,547,097 (GRCm39) Y186N probably benign Het
Bub1 T A 2: 127,671,622 (GRCm39) N21I possibly damaging Het
Cachd1 G A 4: 100,810,363 (GRCm39) D322N probably damaging Het
Ccdc38 A G 10: 93,411,197 (GRCm39) E402G probably damaging Het
Ccl27a A T 4: 41,774,194 (GRCm39) probably null Het
Clec4a4 T C 6: 122,990,836 (GRCm39) probably benign Het
Clic5 A T 17: 44,552,992 (GRCm39) K82M probably benign Het
Cnot10 A T 9: 114,430,423 (GRCm39) S566T probably benign Het
Cul9 T C 17: 46,831,427 (GRCm39) T1596A probably damaging Het
Cyp2c55 A G 19: 39,022,816 (GRCm39) E318G Het
Entpd8 A C 2: 24,973,575 (GRCm39) probably benign Het
Epb41l5 A G 1: 119,547,936 (GRCm39) F156L probably damaging Het
Ephb4 T A 5: 137,369,067 (GRCm39) M819K probably damaging Het
Esr1 A G 10: 4,696,654 (GRCm39) R168G possibly damaging Het
Fbxw10 C A 11: 62,765,831 (GRCm39) Y700* probably null Het
Fras1 G T 5: 96,929,138 (GRCm39) R3847S probably benign Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gpr150 G T 13: 76,204,528 (GRCm39) S139* probably null Het
Grm1 A T 10: 10,595,281 (GRCm39) N782K probably damaging Het
Hmcn2 A G 2: 31,323,404 (GRCm39) S4173G possibly damaging Het
Hmx1 T A 5: 35,549,511 (GRCm39) V268D probably damaging Het
Hsbp1l1 T C 18: 80,278,685 (GRCm39) T33A possibly damaging Het
Hsd17b3 T C 13: 64,212,194 (GRCm39) T161A probably damaging Het
Igll1 A T 16: 16,681,576 (GRCm39) W60R probably benign Het
Itga11 A G 9: 62,664,893 (GRCm39) T593A probably benign Het
Kat6a A G 8: 23,428,824 (GRCm39) D1393G possibly damaging Het
Krt36 A G 11: 99,996,173 (GRCm39) F84L probably benign Het
Macrod1 T C 19: 7,174,385 (GRCm39) S266P probably damaging Het
Mib2 A G 4: 155,744,173 (GRCm39) V163A probably damaging Het
Mmut A G 17: 41,248,284 (GRCm39) T104A probably damaging Het
Mpl A G 4: 118,301,263 (GRCm39) L534P Het
Myo3b C A 2: 70,257,252 (GRCm39) H1317N probably benign Het
Nkx2-6 A G 14: 69,409,420 (GRCm39) D57G probably benign Het
Or1ab2 A G 8: 72,864,276 (GRCm39) I289V probably damaging Het
Or5b24 T C 19: 12,912,192 (GRCm39) V30A probably benign Het
Or5d46 T G 2: 88,169,949 (GRCm39) F13L possibly damaging Het
Or5p79 A G 7: 108,221,919 (GRCm39) N300S probably damaging Het
Or6s1 A G 14: 51,308,665 (GRCm39) Y62H probably damaging Het
Or7g33 A T 9: 19,448,760 (GRCm39) D155E possibly damaging Het
Osbpl11 T A 16: 33,047,607 (GRCm39) H523Q probably damaging Het
Pde1c A T 6: 56,156,128 (GRCm39) S148T possibly damaging Het
Pign G A 1: 105,519,359 (GRCm39) A521V possibly damaging Het
Pprc1 A G 19: 46,060,183 (GRCm39) M1536V possibly damaging Het
Prg4 C A 1: 150,331,810 (GRCm39) A288S possibly damaging Het
Prim2 A T 1: 33,669,513 (GRCm39) I154N possibly damaging Het
Prkdc T C 16: 15,545,590 (GRCm39) V1902A probably benign Het
Prss40 C T 1: 34,595,045 (GRCm39) probably benign Het
Ret C T 6: 118,157,174 (GRCm39) probably benign Het
Rgs22 A T 15: 36,026,127 (GRCm39) C1056S probably damaging Het
Schip1 T C 3: 68,402,436 (GRCm39) L199P possibly damaging Het
Sema4d A T 13: 51,854,935 (GRCm39) L54* probably null Het
Sgsm1 C T 5: 113,421,495 (GRCm39) G531R probably benign Het
Tas1r2 T C 4: 139,394,714 (GRCm39) F519S probably damaging Het
Tnfsf11 C T 14: 78,516,119 (GRCm39) R283Q possibly damaging Het
Tril C T 6: 53,797,202 (GRCm39) V7M possibly damaging Het
Tsr1 T A 11: 74,790,217 (GRCm39) Y137* probably null Het
Ubr5 A G 15: 38,042,153 (GRCm39) S148P Het
Unc13b A G 4: 43,178,531 (GRCm39) probably benign Het
Zfp606 A G 7: 12,223,506 (GRCm39) T64A possibly damaging 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
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'- AAGCGTAGGAAGTTGTCGGC -3'
(R):5'- AGGTTTAGGCCGCCAACTAC -3'

Sequencing Primer
(F):5'- AAGTTGTCGGCAGAGCC -3'
(R):5'- AACTACGCCGCCTGCTG -3'
Posted On 2021-08-02