Incidental Mutation 'R4621:Ajm1'
ID 346122
Institutional Source Beutler Lab
Gene Symbol Ajm1
Ensembl Gene ENSMUSG00000029419
Gene Name apical junction component 1
Synonyms Gm996, LOC381353
MMRRC Submission 041886-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R4621 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25465428-25471760 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25468412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 500 (P500S)
Ref Sequence ENSEMBL: ENSMUSP00000140109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039156] [ENSMUST00000058137] [ENSMUST00000114217] [ENSMUST00000188161] [ENSMUST00000191602] [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 probably damaging
Transcript: ENSMUST00000114217
AA Change: P500S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109855
Gene: ENSMUSG00000029419
AA Change: P500S

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 probably damaging
Transcript: ENSMUST00000188161
AA Change: P500S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140763
Gene: ENSMUSG00000029419
AA Change: P500S

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 damaging
Transcript: ENSMUST00000191602
AA Change: P500S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140109
Gene: ENSMUSG00000029419
AA Change: P500S

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 0.4168 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,975,235 (GRCm39) Y142H probably damaging Het
Abra C T 15: 41,732,620 (GRCm39) D149N probably benign Het
Acin1 A T 14: 54,890,900 (GRCm39) probably benign Het
Adap2 T A 11: 80,064,899 (GRCm39) probably null Het
Afdn A G 17: 14,109,082 (GRCm39) E1535G probably damaging Het
Ak9 A G 10: 41,282,887 (GRCm39) N1218D possibly damaging Het
Angptl1 G A 1: 156,672,494 (GRCm39) V107M probably damaging Het
Arhgap26 G A 18: 39,032,894 (GRCm39) probably benign Het
Cage1 A C 13: 38,209,477 (GRCm39) S61A possibly damaging Het
Cdadc1 T C 14: 59,824,004 (GRCm39) T163A probably benign Het
Celsr2 A T 3: 108,302,532 (GRCm39) V2568D possibly damaging Het
Cep44 G A 8: 56,995,951 (GRCm39) T166M probably damaging Het
Cnksr3 T C 10: 7,076,182 (GRCm39) K187E possibly damaging Het
Cyp20a1 A G 1: 60,415,258 (GRCm39) T295A probably benign Het
Dus2 T A 8: 106,757,074 (GRCm39) M88K probably damaging Het
E330034G19Rik A T 14: 24,346,070 (GRCm39) probably benign Het
Ecrg4 G A 1: 43,776,412 (GRCm39) probably null Het
Efna5 T C 17: 62,958,040 (GRCm39) D72G probably benign Het
Epb41l2 T C 10: 25,378,038 (GRCm39) probably null Het
Espn A G 4: 152,215,709 (GRCm39) S408P probably damaging Het
Evi5l T C 8: 4,252,909 (GRCm39) probably benign Het
F830016B08Rik G A 18: 60,433,939 (GRCm39) V341I probably benign Het
Flii A G 11: 60,606,937 (GRCm39) L1013P possibly damaging Het
Fndc10 G A 4: 155,779,264 (GRCm39) V103M probably damaging Het
Frem3 T A 8: 81,395,820 (GRCm39) probably null Het
Gltp C T 5: 114,812,188 (GRCm39) R106Q probably damaging Het
Gtf3c3 A G 1: 54,458,575 (GRCm39) Y449H probably damaging Het
H1f9 G A 11: 94,858,986 (GRCm39) V94M probably damaging Het
Hmga1b T C 11: 120,653,866 (GRCm39) V51A probably damaging Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Igkv13-84 T C 6: 68,916,783 (GRCm39) S27P possibly damaging Het
Il15ra A G 2: 11,723,140 (GRCm39) N55D possibly damaging Het
Kctd19 T G 8: 106,123,103 (GRCm39) N104H probably damaging Het
Kif27 T G 13: 58,478,827 (GRCm39) D572A probably benign Het
Larp1b G A 3: 40,918,424 (GRCm39) G22R possibly damaging Het
Lcn2 A T 2: 32,274,655 (GRCm39) probably benign Het
Lmtk2 T A 5: 144,111,752 (GRCm39) I824N probably benign Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mcoln1 A G 8: 3,555,923 (GRCm39) I73V probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mycbp2 G T 14: 103,457,415 (GRCm39) T1627K probably benign Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ndufaf5 A G 2: 140,025,845 (GRCm39) T135A probably benign Het
Neb G A 2: 52,161,051 (GRCm39) Q2207* probably null Het
Nek3 T C 8: 22,647,055 (GRCm39) Y160C probably damaging Het
Or2y6 G C 11: 52,104,706 (GRCm39) L37V probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Osbpl8 A G 10: 111,105,279 (GRCm39) I245V probably benign Het
Pcdh9 T C 14: 94,125,079 (GRCm39) I241V probably benign Het
Pcdhb12 A G 18: 37,570,213 (GRCm39) Q453R probably benign Het
Pcdhb2 A G 18: 37,428,980 (GRCm39) T318A probably benign Het
Prlr T A 15: 10,319,462 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,001,453 (GRCm39) A1181V possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rap1gap2 A G 11: 74,326,525 (GRCm39) probably null Het
Rbm5 A G 9: 107,631,345 (GRCm39) V244A probably damaging Het
Rexo5 T G 7: 119,418,722 (GRCm39) I254R probably benign Het
Robo2 A T 16: 73,782,821 (GRCm39) S316T probably benign Het
Satb2 A T 1: 56,884,778 (GRCm39) V382E probably damaging Het
Scg2 C T 1: 79,414,381 (GRCm39) R114Q probably benign Het
Scube2 T C 7: 109,399,857 (GRCm39) D893G possibly damaging Het
Snrpn T C 7: 59,637,274 (GRCm39) D14G possibly damaging Het
Spag17 A G 3: 100,010,559 (GRCm39) T2018A probably benign Het
Spata9 T G 13: 76,116,001 (GRCm39) F17V possibly damaging Het
Supt6 A G 11: 78,103,572 (GRCm39) Y1378H possibly damaging Het
Thsd7b T C 1: 129,358,652 (GRCm39) S29P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Tmem87a A G 2: 120,227,905 (GRCm39) S81P probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Trbj2-4 T A 6: 41,520,308 (GRCm39) probably benign Het
Trim42 T A 9: 97,245,201 (GRCm39) Y533F probably benign Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Vmn1r82 A G 7: 12,039,263 (GRCm39) T179A possibly damaging Het
Yipf7 T A 5: 69,676,704 (GRCm39) Q145L 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
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'- ACCAGGTCAGTGATGAGCTC -3'
(R):5'- ATAGCCGCCACTACTCTCGATC -3'

Sequencing Primer
(F):5'- TCAGTGATGAGCTCGTCCAG -3'
(R):5'- TCTCGATCCTGGGACAACATC -3'
Posted On 2015-09-25