Incidental Mutation 'IGL01657:Ilvbl'
ID103056
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ilvbl
Ensembl Gene ENSMUSG00000032763
Gene NameilvB (bacterial acetolactate synthase)-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01657
Quality Score
Status
Chromosome10
Chromosomal Location78574346-78584502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 78576768 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 108 (V108L)
Ref Sequence ENSEMBL: ENSMUSP00000151521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105384] [ENSMUST00000218061] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218763] [ENSMUST00000218787] [ENSMUST00000218875] [ENSMUST00000218885] [ENSMUST00000220430]
Predicted Effect probably benign
Transcript: ENSMUST00000105384
AA Change: V108L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: V108L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:TPP_enzyme_N 52 220 1.4e-53 PFAM
Pfam:TPP_enzyme_M 273 405 2.1e-16 PFAM
Pfam:TPP_enzyme_C 467 618 3.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218061
Predicted Effect probably benign
Transcript: ENSMUST00000218215
AA Change: V108L

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000218271
AA Change: V108L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000218763
Predicted Effect probably benign
Transcript: ENSMUST00000218787
AA Change: V108L

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218875
AA Change: V108L

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000218885
AA Change: V108L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000219588
Predicted Effect probably benign
Transcript: ENSMUST00000220430
AA Change: V108L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,493 F90L probably benign Het
Anapc4 T A 5: 52,864,626 Y683* probably null Het
Astn2 T G 4: 65,651,949 D773A probably damaging Het
Atp2b3 T C X: 73,545,360 probably benign Het
Atp8b5 T C 4: 43,291,693 M22T probably benign Het
Birc6 T A 17: 74,660,611 L4169H probably damaging Het
Cdc42bpa T C 1: 180,111,866 V81A probably benign Het
Clcn2 A T 16: 20,713,619 C80S probably damaging Het
Clu C T 14: 65,979,672 A318V possibly damaging Het
Csnk1g2 A G 10: 80,639,629 H378R probably benign Het
Decr2 T A 17: 26,082,952 D268V probably damaging Het
Dpp3 T C 19: 4,918,304 T247A possibly damaging Het
Eif4g1 A G 16: 20,682,216 N774D possibly damaging Het
Epha4 A T 1: 77,426,838 V344E probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ggcx T A 6: 72,429,958 probably null Het
Gm1965 C T 6: 89,146,666 noncoding transcript Het
Gmnn T C 13: 24,753,704 E101G probably damaging Het
Grik2 C T 10: 49,527,986 probably null Het
H2-M11 T A 17: 36,547,573 D86E probably benign Het
Il6st T A 13: 112,481,543 W164R probably damaging Het
Klk10 A G 7: 43,781,589 K19E possibly damaging Het
Mbd4 G T 6: 115,849,637 T131N probably damaging Het
Ncapd3 T C 9: 27,071,824 V956A possibly damaging Het
Nif3l1 A C 1: 58,455,612 T247P probably damaging Het
Nrcam T C 12: 44,559,800 V443A probably damaging Het
Olfr1260 A G 2: 89,977,877 Y33C probably damaging Het
Pigk T A 3: 152,722,520 H61Q probably damaging Het
Pla2g4d C A 2: 120,275,287 V431F possibly damaging Het
Pxt1 A T 17: 28,934,804 H18Q possibly damaging Het
Rpusd4 T C 9: 35,273,461 probably benign Het
Slc22a18 T G 7: 143,499,100 L354R probably damaging Het
Slc26a10 A G 10: 127,175,034 V443A probably damaging Het
Smpx A G X: 157,714,680 probably benign Het
Sptan1 A G 2: 30,018,479 S1751G probably benign Het
Ush2a C T 1: 188,826,461 T3629I probably benign Het
Vcan C T 13: 89,690,586 V2280M probably damaging Het
Vmn1r30 T C 6: 58,435,634 E71G probably benign Het
Vmn2r100 A T 17: 19,525,916 I446F possibly damaging Het
Vmn2r75 A T 7: 86,164,247 V449D probably damaging Het
Other mutations in Ilvbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ilvbl APN 10 78583905 missense probably damaging 1.00
IGL00962:Ilvbl APN 10 78583338 missense possibly damaging 0.95
IGL01655:Ilvbl APN 10 78577333 splice site probably benign
IGL01682:Ilvbl APN 10 78577107 splice site probably benign
IGL01768:Ilvbl APN 10 78583293 missense possibly damaging 0.80
IGL01982:Ilvbl APN 10 78579022 missense probably damaging 1.00
IGL02207:Ilvbl APN 10 78583702 critical splice donor site probably null
IGL02561:Ilvbl APN 10 78577144 missense probably benign 0.01
IGL02985:Ilvbl APN 10 78579067 missense probably benign 0.00
R0398:Ilvbl UTSW 10 78579539 missense probably damaging 0.99
R0557:Ilvbl UTSW 10 78583487 nonsense probably null
R0562:Ilvbl UTSW 10 78583487 missense probably damaging 1.00
R0583:Ilvbl UTSW 10 78583267 missense probably damaging 0.99
R1381:Ilvbl UTSW 10 78576596 missense probably damaging 1.00
R1484:Ilvbl UTSW 10 78576730 missense probably damaging 1.00
R1537:Ilvbl UTSW 10 78579731 missense probably benign 0.31
R1862:Ilvbl UTSW 10 78584124 missense probably benign 0.00
R2474:Ilvbl UTSW 10 78576724 missense probably damaging 1.00
R2876:Ilvbl UTSW 10 78583056 missense probably benign
R3621:Ilvbl UTSW 10 78577180 missense probably damaging 1.00
R3811:Ilvbl UTSW 10 78579035 missense probably benign
R4591:Ilvbl UTSW 10 78583305 missense probably benign 0.01
R5040:Ilvbl UTSW 10 78583318 missense probably damaging 1.00
R5449:Ilvbl UTSW 10 78577028 critical splice donor site probably null
R5795:Ilvbl UTSW 10 78577144 missense probably benign 0.01
R5910:Ilvbl UTSW 10 78577113 missense probably benign
R6746:Ilvbl UTSW 10 78577223 missense possibly damaging 0.48
R7019:Ilvbl UTSW 10 78579086 missense probably damaging 0.96
R7223:Ilvbl UTSW 10 78583696 missense probably benign 0.31
R7494:Ilvbl UTSW 10 78579023 missense possibly damaging 0.76
R7576:Ilvbl UTSW 10 78583697 missense possibly damaging 0.45
R7727:Ilvbl UTSW 10 78576666 missense probably benign 0.00
R7777:Ilvbl UTSW 10 78577251 critical splice donor site probably null
R7800:Ilvbl UTSW 10 78583975 missense possibly damaging 0.48
R8082:Ilvbl UTSW 10 78584153 missense probably damaging 0.98
Z1177:Ilvbl UTSW 10 78581124 missense probably damaging 1.00
Posted On2014-01-21