Incidental Mutation 'IGL02418:Ces3b'
ID 292532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ces3b
Ensembl Gene ENSMUSG00000062181
Gene Name carboxylesterase 3B
Synonyms Gm4738, ES31L
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02418
Quality Score
Status
Chromosome 8
Chromosomal Location 105810385-105820561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105812279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 176 (V176A)
Ref Sequence ENSEMBL: ENSMUSP00000090909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074403] [ENSMUST00000093221] [ENSMUST00000173088]
AlphaFold Q8VCU1
Predicted Effect probably damaging
Transcript: ENSMUST00000074403
AA Change: V176A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: V176A

DomainStartEndE-ValueType
Pfam:COesterase 13 436 1.8e-127 PFAM
Pfam:Abhydrolase_3 147 303 2.8e-13 PFAM
Pfam:COesterase 423 497 5.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093221
AA Change: V176A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: V176A

DomainStartEndE-ValueType
Pfam:COesterase 13 547 9.5e-163 PFAM
Pfam:Abhydrolase_3 147 304 2.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173088
SMART Domains Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181

DomainStartEndE-ValueType
Pfam:COesterase 1 114 2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173838
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,424,479 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,156,730 (GRCm39) V436A probably benign Het
Afap1l1 T C 18: 61,885,648 (GRCm39) D156G probably damaging Het
Arhgap21 G A 2: 20,885,711 (GRCm39) R489C probably damaging Het
Arhgap26 G A 18: 39,490,620 (GRCm39) probably benign Het
Bbs5 T G 2: 69,485,849 (GRCm39) *89G probably null Het
Ceacam5 A T 7: 17,493,359 (GRCm39) Y794F possibly damaging Het
Cfi A G 3: 129,642,461 (GRCm39) H105R probably benign Het
Chat C T 14: 32,168,906 (GRCm39) V210I possibly damaging Het
Chd1l A G 3: 97,488,415 (GRCm39) S534P probably benign Het
Cyb5rl T C 4: 106,928,182 (GRCm39) L106P probably damaging Het
Cyp21a1 A G 17: 35,023,162 (GRCm39) probably benign Het
Dnah12 T C 14: 26,495,679 (GRCm39) C1436R probably damaging Het
Flg2 T A 3: 93,108,361 (GRCm39) F130I probably benign Het
Fryl T A 5: 73,267,519 (GRCm39) probably benign Het
Galnt10 T C 11: 57,671,994 (GRCm39) V428A probably benign Het
Ganab A G 19: 8,888,433 (GRCm39) D496G probably null Het
Gapvd1 T C 2: 34,620,530 (GRCm39) T44A probably benign Het
Gm17093 T A 14: 44,758,185 (GRCm39) M122K unknown Het
Gm5356 A T 8: 89,914,064 (GRCm39) noncoding transcript Het
Gmppa G T 1: 75,415,664 (GRCm39) G126C probably damaging Het
Il23r T C 6: 67,467,656 (GRCm39) H37R possibly damaging Het
Itga11 A G 9: 62,651,914 (GRCm39) I349V probably benign Het
Lrrc42 A T 4: 107,100,533 (GRCm39) Y159* probably null Het
Naa16 C A 14: 79,620,806 (GRCm39) R57L probably damaging Het
Ntmt2 A T 1: 163,530,725 (GRCm39) V238E probably damaging Het
Or8g4 A G 9: 39,661,787 (GRCm39) Y35C probably damaging Het
Oxtr A T 6: 112,454,200 (GRCm39) H21Q probably damaging Het
Paqr7 A G 4: 134,234,284 (GRCm39) Y47C probably damaging Het
Paxbp1 A C 16: 90,831,000 (GRCm39) C459G probably damaging Het
Pnp2 C T 14: 51,201,293 (GRCm39) R222C possibly damaging Het
Rtl1 T C 12: 109,556,883 (GRCm39) D1652G probably damaging Het
Saxo5 T A 8: 3,526,080 (GRCm39) F78I probably damaging Het
Shoc1 A T 4: 59,049,075 (GRCm39) probably benign Het
Spata4 C A 8: 55,062,978 (GRCm39) N294K probably benign Het
Tcp11l2 T A 10: 84,449,470 (GRCm39) Y478* probably null Het
Tcte1 T A 17: 45,852,128 (GRCm39) S454T probably benign Het
Thsd4 C T 9: 60,335,598 (GRCm39) V105I probably damaging Het
Tmem117 T A 15: 94,829,765 (GRCm39) I200N probably benign Het
Tpgs1 G A 10: 79,505,289 (GRCm39) V16M probably benign Het
Ttn G T 2: 76,797,447 (GRCm39) T539K probably benign Het
Usp24 A G 4: 106,293,557 (GRCm39) S2542G probably benign Het
Vmn2r44 A T 7: 8,380,864 (GRCm39) L343H probably damaging Het
Zmat2 T A 18: 36,927,392 (GRCm39) Y21N probably damaging Het
Zyx C T 6: 42,334,327 (GRCm39) A517V probably damaging Het
Other mutations in Ces3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Ces3b APN 8 105,818,206 (GRCm39) missense probably benign 0.00
IGL01324:Ces3b APN 8 105,819,884 (GRCm39) missense probably damaging 0.99
IGL02612:Ces3b APN 8 105,811,901 (GRCm39) missense possibly damaging 0.83
IGL03400:Ces3b APN 8 105,819,568 (GRCm39) missense probably damaging 1.00
R0244:Ces3b UTSW 8 105,819,267 (GRCm39) missense probably damaging 1.00
R0282:Ces3b UTSW 8 105,810,483 (GRCm39) missense probably benign 0.00
R0800:Ces3b UTSW 8 105,811,901 (GRCm39) missense possibly damaging 0.83
R1833:Ces3b UTSW 8 105,812,271 (GRCm39) missense probably damaging 0.98
R2130:Ces3b UTSW 8 105,819,607 (GRCm39) critical splice donor site probably null
R3790:Ces3b UTSW 8 105,813,520 (GRCm39) missense possibly damaging 0.50
R4827:Ces3b UTSW 8 105,813,527 (GRCm39) missense probably benign 0.12
R5411:Ces3b UTSW 8 105,815,264 (GRCm39) missense possibly damaging 0.94
R5790:Ces3b UTSW 8 105,819,270 (GRCm39) missense probably damaging 1.00
R5798:Ces3b UTSW 8 105,815,072 (GRCm39) missense probably damaging 1.00
R5929:Ces3b UTSW 8 105,819,797 (GRCm39) missense probably damaging 1.00
R6437:Ces3b UTSW 8 105,819,238 (GRCm39) missense probably damaging 1.00
R6470:Ces3b UTSW 8 105,815,285 (GRCm39) missense possibly damaging 0.87
R6943:Ces3b UTSW 8 105,819,710 (GRCm39) missense probably damaging 1.00
R7828:Ces3b UTSW 8 105,813,228 (GRCm39) missense probably damaging 1.00
R7856:Ces3b UTSW 8 105,819,894 (GRCm39) makesense probably null
R8162:Ces3b UTSW 8 105,817,385 (GRCm39) missense possibly damaging 0.83
R8924:Ces3b UTSW 8 105,811,619 (GRCm39) missense probably benign 0.08
R9369:Ces3b UTSW 8 105,813,502 (GRCm39) missense probably damaging 1.00
R9381:Ces3b UTSW 8 105,811,670 (GRCm39) missense probably benign 0.30
R9651:Ces3b UTSW 8 105,812,257 (GRCm39) missense probably damaging 1.00
R9652:Ces3b UTSW 8 105,812,257 (GRCm39) missense probably damaging 1.00
R9653:Ces3b UTSW 8 105,812,257 (GRCm39) missense probably damaging 1.00
Z1177:Ces3b UTSW 8 105,811,715 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16