Incidental Mutation 'IGL02511:Enoph1'
ID 296554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enoph1
Ensembl Gene ENSMUSG00000029326
Gene Name enolase-phosphatase 1
Synonyms 2310057D15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # IGL02511
Quality Score
Status
Chromosome 5
Chromosomal Location 100187844-100216619 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100208894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 83 (L83P)
Ref Sequence ENSEMBL: ENSMUSP00000129704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000169390]
AlphaFold Q8BGB7
Predicted Effect probably benign
Transcript: ENSMUST00000031268
AA Change: L83P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326
AA Change: L83P

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158866
Predicted Effect probably benign
Transcript: ENSMUST00000169390
AA Change: L83P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326
AA Change: L83P

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200223
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Or5v1b A G 17: 37,840,870 (GRCm39) M1V probably null Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Enoph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1288:Enoph1 UTSW 5 100,188,138 (GRCm39) missense possibly damaging 0.95
R1567:Enoph1 UTSW 5 100,208,884 (GRCm39) missense probably benign 0.00
R2059:Enoph1 UTSW 5 100,207,078 (GRCm39) missense probably damaging 0.96
R2100:Enoph1 UTSW 5 100,211,645 (GRCm39) missense probably null 0.16
R2231:Enoph1 UTSW 5 100,188,136 (GRCm39) missense probably damaging 1.00
R5314:Enoph1 UTSW 5 100,211,682 (GRCm39) missense possibly damaging 0.53
R5681:Enoph1 UTSW 5 100,210,136 (GRCm39) critical splice donor site probably null
R6056:Enoph1 UTSW 5 100,215,760 (GRCm39) missense probably damaging 0.99
R7718:Enoph1 UTSW 5 100,210,019 (GRCm39) missense possibly damaging 0.47
R7921:Enoph1 UTSW 5 100,208,992 (GRCm39) missense probably benign 0.00
R8070:Enoph1 UTSW 5 100,208,841 (GRCm39) missense probably benign 0.00
R9642:Enoph1 UTSW 5 100,188,115 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16