Incidental Mutation 'IGL02985:Ilvbl'
ID406677
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 #IGL02985
Quality Score
Status
Chromosome10
Chromosomal Location78574346-78584502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 78579067 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 255 (P255S)
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: P255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: P255S

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: P255S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000218271
AA Change: P255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218670
Predicted Effect probably benign
Transcript: ENSMUST00000218763
Predicted Effect probably benign
Transcript: ENSMUST00000218787
Predicted Effect probably benign
Transcript: ENSMUST00000218875
AA Change: P255S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000218885
AA Change: P255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect unknown
Transcript: ENSMUST00000219588
AA Change: P126S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219971
Predicted Effect probably benign
Transcript: ENSMUST00000220430
AA Change: P255S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pabpc4l A G 3: 46,446,582 V209A possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly 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
IGL01657:Ilvbl APN 10 78576768 missense possibly damaging 0.57
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
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
Z1177:Ilvbl UTSW 10 78581124 missense probably damaging 1.00
Posted On2016-08-02