Incidental Mutation 'R7172:AA467197'
ID 558325
Institutional Source Beutler Lab
Gene Symbol AA467197
Ensembl Gene ENSMUSG00000033213
Gene Name expressed sequence AA467197
Synonyms NMES1
MMRRC Submission 045264-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7172 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 122479807-122482996 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122480238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 33 (Y33F)
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: Y33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040781
Gene: ENSMUSG00000033213
AA Change: Y33F

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110512
AA Change: Y33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106141
Gene: ENSMUSG00000033213
AA Change: Y33F

DomainStartEndE-ValueType
Pfam:B12D 8 79 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000142767
AA Change: Y33F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117197
Gene: ENSMUSG00000033213
AA Change: Y33F

DomainStartEndE-ValueType
Pfam:B12D 8 70 1.4e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (74/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 121,897,189 (GRCm39) Q623* probably null Het
Abcb1a A T 5: 8,752,399 (GRCm39) I457F probably benign Het
Abcb9 G A 5: 124,200,869 (GRCm39) Q716* probably null Het
Abhd15 T C 11: 77,406,122 (GRCm39) V33A probably benign Het
Abl2 A G 1: 156,450,157 (GRCm39) D108G probably damaging Het
Adamts3 G A 5: 90,030,860 (GRCm39) probably benign Het
Atmin G T 8: 117,683,281 (GRCm39) V314L probably damaging Het
Axl G T 7: 25,486,399 (GRCm39) Q102K probably benign Het
Cdhr5 A G 7: 140,851,841 (GRCm39) S488P possibly damaging Het
Cnn1 C A 9: 22,016,790 (GRCm39) A126D probably damaging Het
Col25a1 A T 3: 130,363,981 (GRCm39) K537* probably null Het
Cxcl2 A G 5: 91,051,879 (GRCm39) T26A probably benign Het
Dcc T C 18: 71,511,755 (GRCm39) T887A probably benign Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dnah17 T A 11: 117,931,957 (GRCm39) K3672* probably null Het
Fadd G T 7: 144,135,908 (GRCm39) H73Q probably benign Het
Fancm A G 12: 65,152,828 (GRCm39) N1095D possibly damaging Het
Fhod3 T C 18: 25,218,603 (GRCm39) S789P probably damaging Het
Glis2 G A 16: 4,431,339 (GRCm39) V289I probably benign Het
Gm17728 A C 17: 9,641,220 (GRCm39) D110A probably damaging Het
Gm9602 T A 14: 15,933,429 (GRCm39) S45T possibly damaging Het
Gpr137 A G 19: 6,917,049 (GRCm39) S161P possibly damaging Het
Gpr89 C T 3: 96,787,385 (GRCm39) probably null Het
Gps2 C T 11: 69,807,262 (GRCm39) T306I probably benign Het
Hmcn1 A G 1: 150,629,450 (GRCm39) Y936H possibly damaging Het
Hoxa5 A G 6: 52,181,276 (GRCm39) Y19H probably damaging Het
Ifit2 G T 19: 34,550,894 (GRCm39) A145S probably benign Het
Impdh2 G T 9: 108,437,809 (GRCm39) C26F probably benign Het
Kcnh6 T C 11: 105,911,100 (GRCm39) Y552H possibly damaging Het
Kcnma1 A T 14: 23,576,691 (GRCm39) M254K probably damaging Het
Klhdc9 A T 1: 171,188,228 (GRCm39) M1K probably null Het
Klk1b11 A T 7: 43,648,671 (GRCm39) D194V possibly damaging Het
Lama1 A G 17: 68,111,540 (GRCm39) I2264V Het
Lmntd2 A G 7: 140,793,554 (GRCm39) S111P unknown Het
Megf8 T C 7: 25,043,092 (GRCm39) L1338P probably damaging Het
Mipol1 G A 12: 57,372,321 (GRCm39) E127K possibly damaging Het
Mmp25 A T 17: 23,863,762 (GRCm39) C23S probably benign Het
Mup8 A T 4: 60,222,425 (GRCm39) C15* probably null Het
Myh2 A T 11: 67,079,527 (GRCm39) T995S probably benign Het
Myo1d C T 11: 80,483,621 (GRCm39) V863I probably benign Het
N4bp1 A G 8: 87,587,052 (GRCm39) probably null Het
Nat10 G T 2: 103,563,314 (GRCm39) P562T probably damaging Het
Nedd9 C G 13: 41,470,280 (GRCm39) R291P probably benign Het
Nlrc3 G T 16: 3,781,617 (GRCm39) H613Q probably benign Het
Ntn1 A T 11: 68,276,493 (GRCm39) C152S probably damaging Het
Or2av9 T A 11: 58,380,571 (GRCm39) I337F unknown Het
Pam A T 1: 97,762,203 (GRCm39) D793E probably benign Het
Patz1 T G 11: 3,258,032 (GRCm39) V631G probably benign Het
Pcdh15 G A 10: 74,338,597 (GRCm39) V1068M probably damaging Het
Pramel17 A G 4: 101,694,193 (GRCm39) V230A probably benign Het
Prmt5 A G 14: 54,752,343 (GRCm39) F151S possibly damaging Het
Pygo2 G A 3: 89,339,943 (GRCm39) V114I probably benign Het
Rabgap1l A T 1: 160,561,156 (GRCm39) S220R probably benign Het
Rdh7 T G 10: 127,724,218 (GRCm39) S89R possibly damaging Het
Rgsl1 A C 1: 153,701,966 (GRCm39) W163G possibly damaging Het
Ryr3 T A 2: 112,492,002 (GRCm39) N3783I probably damaging Het
Shld2 G A 14: 33,959,525 (GRCm39) T819I probably damaging Het
Slit1 A G 19: 41,623,105 (GRCm39) L644P probably damaging Het
Steap2 A G 5: 5,732,896 (GRCm39) S43P possibly damaging Het
Susd1 A T 4: 59,315,420 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,981,390 (GRCm39) M686V probably damaging Het
Tdrp G A 8: 14,024,579 (GRCm39) R22* probably null Het
Tmem245 A G 4: 56,903,946 (GRCm39) V598A possibly damaging Het
Tnxb A G 17: 34,914,994 (GRCm39) E1994G probably damaging Het
Trcg1 T A 9: 57,155,618 (GRCm39) V757E probably benign Het
Trim10 A G 17: 37,180,955 (GRCm39) E62G possibly damaging Het
Ushbp1 G T 8: 71,841,410 (GRCm39) A473E possibly damaging Het
Vmn1r50 A C 6: 90,084,386 (GRCm39) K44Q possibly damaging Het
Wdr75 A G 1: 45,838,294 (GRCm39) N68D probably damaging Het
Wdr83 A G 8: 85,806,453 (GRCm39) V115A probably damaging Het
Zdhhc17 A G 10: 110,845,809 (GRCm39) L28P possibly damaging Het
Zfp738 C T 13: 67,818,527 (GRCm39) C488Y probably damaging Het
Zfp987 T G 4: 146,058,572 (GRCm39) L50W probably damaging Het
Zfyve28 G T 5: 34,391,753 (GRCm39) R133S probably benign Het
Zscan20 G T 4: 128,479,469 (GRCm39) C1007* probably null 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
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'- TCATCATGGGCGTTTTCCAG -3'
(R):5'- CATTGCAGGGTCAGACAATAAG -3'

Sequencing Primer
(F):5'- CATCATGGGCGTTTTCCAGATATTG -3'
(R):5'- TGGTTACATTTCTTTCTGTTACCAG -3'
Posted On 2019-06-26