Incidental Mutation 'R5475:AA467197'
ID 434002
Institutional Source Beutler Lab
Gene Symbol AA467197
Ensembl Gene ENSMUSG00000033213
Gene Name expressed sequence AA467197
Synonyms NMES1
MMRRC Submission 043036-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R5475 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122479807-122482996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122482646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 70 (K70R)
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: K70R

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000040781
Gene: ENSMUSG00000033213
AA Change: K70R

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102354
Predicted Effect probably benign
Transcript: ENSMUST00000110512
AA Change: K70R

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106141
Gene: ENSMUSG00000033213
AA Change: K70R

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142767
AA Change: K70R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117197
Gene: ENSMUSG00000033213
AA Change: K70R

DomainStartEndE-ValueType
Pfam:B12D 8 70 1.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175727
Meta Mutation Damage Score 0.3703 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency 96% (72/75)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Agr3 A G 12: 35,997,539 (GRCm39) N83S probably benign Het
Alpk2 T C 18: 65,440,083 (GRCm39) T904A probably benign Het
Ank A T 15: 27,557,285 (GRCm39) K156N probably damaging Het
Arsb T G 13: 93,998,773 (GRCm39) D360E probably benign Het
Atg14 C T 14: 47,805,793 (GRCm39) R24Q possibly damaging Het
Cacna1e A T 1: 154,601,455 (GRCm39) F71I possibly damaging Het
Cdc42bpg T C 19: 6,361,101 (GRCm39) I242T probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Col6a6 T C 9: 105,651,537 (GRCm39) H1158R probably null Het
Cse1l T C 2: 166,783,174 (GRCm39) S684P probably damaging Het
Cyp2c29 A T 19: 39,318,731 (GRCm39) M404L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dph7 A T 2: 24,858,969 (GRCm39) probably null Het
Dsg1c A T 18: 20,415,088 (GRCm39) N662Y probably damaging Het
Efcab9 T G 11: 32,472,862 (GRCm39) D195A probably damaging Het
Ephb4 A G 5: 137,352,701 (GRCm39) M95V probably benign Het
Fam171a1 A T 2: 3,226,334 (GRCm39) Y489F possibly damaging Het
Fars2 T C 13: 36,388,553 (GRCm39) I14T probably benign Het
Fbxo34 T C 14: 47,766,802 (GRCm39) V54A probably benign Het
Fbxw17 T C 13: 50,579,684 (GRCm39) I167T probably benign Het
Fzd9 A T 5: 135,279,123 (GRCm39) probably null Het
Gm26996 T A 6: 130,556,918 (GRCm39) noncoding transcript Het
Gm4744 A G 6: 40,927,388 (GRCm39) probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Has1 C A 17: 18,068,583 (GRCm39) R257L possibly damaging Het
Hjv T C 3: 96,434,599 (GRCm39) S113P probably benign Het
Hsd17b8 C T 17: 34,246,287 (GRCm39) probably benign Het
Kat2b T G 17: 53,970,609 (GRCm39) V665G probably damaging Het
Klhdc4 T A 8: 122,526,311 (GRCm39) H276L possibly damaging Het
Klhl6 A T 16: 19,766,877 (GRCm39) C506S probably damaging Het
Ldb2 T C 5: 44,699,174 (GRCm39) Y88C probably damaging Het
Lrit1 A G 14: 36,776,958 (GRCm39) E26G probably benign Het
Mcoln2 A G 3: 145,889,541 (GRCm39) Y414C probably damaging Het
Mfsd5 A G 15: 102,188,928 (GRCm39) D100G probably damaging Het
Micall2 T A 5: 139,702,224 (GRCm39) S340C probably damaging Het
Npsr1 T C 9: 24,211,715 (GRCm39) I81T probably damaging Het
Or2bd2 G T 7: 6,443,169 (GRCm39) R90L probably benign Het
Or2t49 A G 11: 58,392,431 (GRCm39) V317A probably benign Het
Or6x1 T A 9: 40,099,005 (GRCm39) L198H possibly damaging Het
Or8b56 T A 9: 38,739,762 (GRCm39) F258L possibly damaging Het
Pax3 T C 1: 78,080,055 (GRCm39) T444A probably benign Het
Pea15a A G 1: 172,026,809 (GRCm39) probably null Het
Phc1 T A 6: 122,311,051 (GRCm39) Q95L possibly damaging Het
Plch2 T C 4: 155,084,594 (GRCm39) Y361C probably damaging Het
Pphln1-ps1 A T 16: 13,494,977 (GRCm39) R25S possibly damaging Het
Rad54l2 C T 9: 106,583,057 (GRCm39) G787D probably damaging Het
Rbm20 G T 19: 53,823,136 (GRCm39) E578* probably null Het
Sipa1l2 A T 8: 126,218,334 (GRCm39) D334E probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thumpd1 A G 7: 119,319,943 (GRCm39) S8P probably benign Het
Tnxb T C 17: 34,908,567 (GRCm39) Y1407H probably damaging Het
Trav2 T A 14: 52,805,290 (GRCm39) V37E probably damaging Het
Trav3-1 G T 14: 52,818,494 (GRCm39) W56L probably damaging Het
Usp31 A T 7: 121,250,749 (GRCm39) L808Q probably damaging Het
Vmn1r52 C T 6: 90,155,894 (GRCm39) A66V probably benign Het
Vmn2r105 T A 17: 20,455,044 (GRCm39) I31L probably benign Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zbtb2 G T 10: 4,319,275 (GRCm39) F250L probably benign Het
Other mutations in AA467197
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03240:AA467197 APN 2 122,481,182 (GRCm39) missense probably benign 0.33
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
Predicted Primers PCR Primer
(F):5'- TGGTAGAAACAGGCCCAGTG -3'
(R):5'- CTAATGCAGGATCCAAAGAATGC -3'

Sequencing Primer
(F):5'- ACAGGCCCAGTGTGATATTC -3'
(R):5'- TGCAGGCAAACCCTACAAATGTAG -3'
Posted On 2016-10-06