Incidental Mutation 'IGL03240:AA467197'
ID 414224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AA467197
Ensembl Gene ENSMUSG00000033213
Gene Name expressed sequence AA467197
Synonyms NMES1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL03240
Quality Score
Status
Chromosome 2
Chromosomal Location 122479807-122482996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122481182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 57 (T57A)
Ref Sequence ENSEMBL: ENSMUSP00000117197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047498] [ENSMUST00000110512] [ENSMUST00000142767]
AlphaFold Q810Q5
Predicted Effect probably benign
Transcript: ENSMUST00000047498
AA Change: T57A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000040781
Gene: ENSMUSG00000033213
AA Change: T57A

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102354
Predicted Effect probably benign
Transcript: ENSMUST00000110512
AA Change: T57A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106141
Gene: ENSMUSG00000033213
AA Change: T57A

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142767
AA Change: T57A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117197
Gene: ENSMUSG00000033213
AA Change: T57A

DomainStartEndE-ValueType
Pfam:B12D 8 70 1.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175727
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,350,365 (GRCm39) probably benign Het
Akap11 A T 14: 78,733,345 (GRCm39) D1852E probably damaging Het
Arg2 T A 12: 79,178,605 (GRCm39) probably null Het
Arhgef4 A G 1: 34,845,107 (GRCm39) D1437G probably benign Het
AW551984 C A 9: 39,500,418 (GRCm39) R780L probably benign Het
Baz1a T A 12: 54,974,352 (GRCm39) K503* probably null Het
Bltp3a C A 17: 28,112,227 (GRCm39) N1167K probably benign Het
Cdk2ap1 A T 5: 124,484,207 (GRCm39) H96Q probably damaging Het
Col11a1 T A 3: 114,010,859 (GRCm39) probably null Het
Col12a1 A T 9: 79,585,665 (GRCm39) probably null Het
Col22a1 G A 15: 71,679,777 (GRCm39) P877S unknown Het
Col7a1 A T 9: 108,797,441 (GRCm39) N1681Y probably null Het
Dennd1b T G 1: 139,067,130 (GRCm39) S398A possibly damaging Het
Fgd2 C T 17: 29,580,135 (GRCm39) probably benign Het
Hadh T C 3: 131,042,192 (GRCm39) S98G probably benign Het
Has2 C T 15: 56,531,656 (GRCm39) R353H probably damaging Het
Heg1 T C 16: 33,547,783 (GRCm39) S857P probably benign Het
Hemgn T A 4: 46,400,732 (GRCm39) R43* probably null Het
Htr4 A T 18: 62,570,692 (GRCm39) H249L possibly damaging Het
Hycc2 A G 1: 58,569,076 (GRCm39) L501P probably damaging Het
Iqgap3 T C 3: 88,022,281 (GRCm39) S495P probably benign Het
Kars1 T C 8: 112,732,271 (GRCm39) D99G probably benign Het
Krt40 T A 11: 99,428,394 (GRCm39) S333C probably damaging Het
Lamc2 T C 1: 152,999,871 (GRCm39) I1163V probably damaging Het
Lrrn2 A T 1: 132,866,065 (GRCm39) I377F possibly damaging Het
Mcm5 T A 8: 75,842,530 (GRCm39) I268N probably damaging Het
Mmp21 G T 7: 133,276,300 (GRCm39) H514Q probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Mybbp1a A G 11: 72,336,492 (GRCm39) T495A possibly damaging Het
Myo10 T A 15: 25,701,688 (GRCm39) V21E probably damaging Het
Nap1l4 A G 7: 143,091,982 (GRCm39) S49P probably benign Het
Ncoa2 G A 1: 13,247,316 (GRCm39) S369F probably damaging Het
Niban2 A C 2: 32,812,109 (GRCm39) Y397S probably benign Het
Or5g9 A T 2: 85,552,675 (GRCm39) K309* probably null Het
Pon2 A G 6: 5,265,316 (GRCm39) probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Psmd6 A G 14: 14,112,393 (GRCm38) probably benign Het
Ptprk G T 10: 28,368,957 (GRCm39) R643L probably damaging Het
Ptprq T A 10: 107,524,368 (GRCm39) Y455F probably benign Het
Sec23b G A 2: 144,408,679 (GRCm39) probably benign Het
Sh3pxd2a A G 19: 47,256,465 (GRCm39) L751P probably damaging Het
Snx6 T A 12: 54,830,228 (GRCm39) H77L probably damaging Het
Svep1 C A 4: 58,048,188 (GRCm39) C3472F possibly damaging Het
Trpd52l3 A T 19: 29,981,396 (GRCm39) E50D probably damaging Het
Ttc33 A G 15: 5,246,809 (GRCm39) D205G probably damaging Het
Tubgcp3 A T 8: 12,699,797 (GRCm39) V352E probably benign Het
Tulp2 T G 7: 45,171,734 (GRCm39) F436C probably damaging Het
Vmn1r123 T A 7: 20,896,282 (GRCm39) M58K possibly damaging Het
Vmn2r113 T C 17: 23,174,931 (GRCm39) V514A probably benign Het
Vps13c T C 9: 67,862,329 (GRCm39) V2982A probably benign Het
Ywhaq T C 12: 21,445,001 (GRCm39) T215A possibly damaging Het
Zfp677 A T 17: 21,617,135 (GRCm39) H64L probably damaging Het
Other mutations in AA467197
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5475:AA467197 UTSW 2 122,482,646 (GRCm39) missense probably damaging 1.00
R7172:AA467197 UTSW 2 122,480,238 (GRCm39) missense probably damaging 1.00
R8414:AA467197 UTSW 2 122,480,237 (GRCm39) missense probably damaging 0.99
R8813:AA467197 UTSW 2 122,482,622 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02