Incidental Mutation 'R8414:AA467197'
ID 652818
Institutional Source Beutler Lab
Gene Symbol AA467197
Ensembl Gene ENSMUSG00000033213
Gene Name expressed sequence AA467197
Synonyms NMES1
MMRRC Submission 067768-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R8414 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 122479807-122482996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122480237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 33 (Y33H)
Ref Sequence ENSEMBL: ENSMUSP00000040781 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047498] [ENSMUST00000110512] [ENSMUST00000142767]
AlphaFold Q810Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000047498
AA Change: Y33H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040781
Gene: ENSMUSG00000033213
AA Change: Y33H

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110512
AA Change: Y33H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106141
Gene: ENSMUSG00000033213
AA Change: Y33H

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142767
AA Change: Y33H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117197
Gene: ENSMUSG00000033213
AA Change: Y33H

DomainStartEndE-ValueType
Pfam:B12D 8 70 1.4e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,623,273 (GRCm39) R880G probably benign Het
Abcg2 T A 6: 58,646,221 (GRCm39) Y246N probably benign Het
Abhd18 A G 3: 40,888,061 (GRCm39) M302V probably benign Het
Ablim2 A G 5: 36,032,235 (GRCm39) D568G possibly damaging Het
Alpk2 T C 18: 65,440,542 (GRCm39) R284G possibly damaging Het
AU021092 T C 16: 5,034,649 (GRCm39) Y191C probably damaging Het
Bdp1 T A 13: 100,200,985 (GRCm39) T751S probably benign Het
Brme1 A T 8: 84,893,952 (GRCm39) E373V probably damaging Het
Ccdc136 A G 6: 29,412,929 (GRCm39) E438G probably damaging Het
Cul2 C A 18: 3,399,912 (GRCm39) N15K probably benign Het
Eml2 C A 7: 18,913,220 (GRCm39) Q73K probably damaging Het
Epha6 C A 16: 59,826,030 (GRCm39) R588S probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxw28 C T 9: 109,155,604 (GRCm39) W389* probably null Het
Fcgbpl1 T A 7: 27,842,158 (GRCm39) C698S probably damaging Het
Gbp4 A T 5: 105,284,703 (GRCm39) V62E probably benign Het
Gtf2h1 C A 7: 46,464,768 (GRCm39) T401K possibly damaging Het
Hif1a G T 12: 73,984,428 (GRCm39) M294I probably benign Het
Irak2 A G 6: 113,663,903 (GRCm39) N484S probably benign Het
Kcnj16 A G 11: 110,916,441 (GRCm39) T368A probably benign Het
Kcnq1 G A 7: 142,917,403 (GRCm39) G588D probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Nckap5 T G 1: 125,942,357 (GRCm39) E1582D probably damaging Het
Nrip3 A G 7: 109,362,735 (GRCm39) I183T possibly damaging Het
Or10g9 T A 9: 39,912,241 (GRCm39) H94L probably benign Het
Or4c117 A G 2: 88,956,058 (GRCm39) F6L probably benign Het
Pcdha2 C T 18: 37,074,619 (GRCm39) S750L probably damaging Het
Pik3r2 T C 8: 71,223,079 (GRCm39) Y447C probably damaging Het
Poteg T C 8: 27,938,068 (GRCm39) Y75H probably benign Het
Proser1 G C 3: 53,385,977 (GRCm39) G620R probably damaging Het
Prpsap1 A T 11: 116,369,439 (GRCm39) L164H probably damaging Het
Rfc3 A T 5: 151,568,381 (GRCm39) V195E possibly damaging Het
Sarm1 A T 11: 78,378,794 (GRCm39) V417D probably damaging Het
She A G 3: 89,739,174 (GRCm39) T122A probably benign Het
Spata31e1 A G 13: 49,941,273 (GRCm39) S56P probably damaging Het
Srpra A G 9: 35,126,133 (GRCm39) E442G probably benign Het
Sult2a6 T A 7: 13,984,357 (GRCm39) R124S probably damaging Het
Synm T C 7: 67,383,511 (GRCm39) T1384A probably benign Het
Tenm3 A G 8: 48,746,544 (GRCm39) V1087A probably damaging Het
Ticam1 T A 17: 56,578,340 (GRCm39) I252L probably benign Het
Trbv31 C A 6: 41,534,697 (GRCm39) D89Y possibly damaging Het
Trpc7 G A 13: 56,970,282 (GRCm39) T434I probably benign Het
Tubgcp4 T A 2: 121,024,634 (GRCm39) I603N probably benign Het
Ugt3a1 A G 15: 9,310,669 (GRCm39) N317S possibly damaging Het
Vdac1 C T 11: 52,267,330 (GRCm39) T77I possibly damaging Het
Vmn2r113 A T 17: 23,177,753 (GRCm39) R846* probably null Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zranb2 G T 3: 157,252,312 (GRCm39) R310S unknown Het
Other mutations in AA467197
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03240:AA467197 APN 2 122,481,182 (GRCm39) missense probably benign 0.33
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
R8813:AA467197 UTSW 2 122,482,622 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGGGCGTTTTCCAGATATTG -3'
(R):5'- TCATTGCAGGGTCAGACAATAAG -3'

Sequencing Primer
(F):5'- GGCGTTTTCCAGATATTGATGAAG -3'
(R):5'- TGGTTACATTTCTTTCTGTTACCAG -3'
Posted On 2020-10-20