Incidental Mutation 'IGL00959:Ilvbl'
ID28381
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: 0.128) question?
Stock #IGL00959
Quality Score
Status
Chromosome10
Chromosomal Location78574346-78584502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78583905 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 548 (D548N)
Ref Sequence ENSEMBL: ENSMUSP00000152037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040580] [ENSMUST00000105384] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218875] [ENSMUST00000218885] [ENSMUST00000220430]
Predicted Effect probably benign
Transcript: ENSMUST00000040580
SMART Domains Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714

DomainStartEndE-ValueType
low complexity region 37 45 N/A INTRINSIC
low complexity region 56 69 N/A INTRINSIC
low complexity region 114 127 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 321 335 N/A INTRINSIC
RhoGAP 411 601 1.49e-56 SMART
low complexity region 638 652 N/A INTRINSIC
low complexity region 681 694 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105384
AA Change: D548N

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: D548N

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 damaging
Transcript: ENSMUST00000218215
AA Change: D548N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218670
Predicted Effect probably benign
Transcript: ENSMUST00000218875
Predicted Effect possibly damaging
Transcript: ENSMUST00000218885
AA Change: D548N

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000219588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219971
Predicted Effect probably benign
Transcript: ENSMUST00000220430
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b A T 11: 69,166,243 H430L probably damaging Het
Aox4 G T 1: 58,239,174 V443F probably damaging Het
Bmpr2 A T 1: 59,815,315 I108F possibly damaging Het
Cflar G A 1: 58,729,162 probably null Het
Chchd3 A G 6: 32,968,253 V106A probably benign Het
Chl1 G T 6: 103,709,250 probably null Het
Clvs2 C T 10: 33,528,463 M252I probably benign Het
Cntnap5a T A 1: 116,184,327 L449Q probably benign Het
Col6a2 T A 10: 76,614,534 I188F probably damaging Het
Cyp2c55 A G 19: 39,038,143 D398G probably benign Het
Dennd1b T C 1: 139,143,888 probably benign Het
Dopey1 T A 9: 86,487,431 Y106N probably damaging Het
Dpy19l1 A T 9: 24,423,197 probably null Het
Extl3 C T 14: 65,076,912 V274I probably benign Het
Fras1 G A 5: 96,781,281 R3848H probably damaging Het
Gm11437 A C 11: 84,148,622 probably benign Het
Gss T A 2: 155,581,951 D2V probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Jmjd6 A T 11: 116,842,376 D115E possibly damaging Het
Kidins220 T A 12: 25,051,133 S1110R possibly damaging Het
Kmt2c T A 5: 25,276,229 I4784F probably damaging Het
Mrpl52 T C 14: 54,427,037 V11A possibly damaging Het
Myo3b A G 2: 70,314,292 Y1036C probably damaging Het
Olfr769 T A 10: 129,112,024 M134L probably benign Het
Omp T C 7: 98,145,150 D90G probably damaging Het
Osmr T C 15: 6,824,605 I541V probably benign Het
Ppp1r32 A T 19: 10,477,523 probably null Het
Ppp2r1a A T 17: 20,961,578 probably benign Het
Ptpn13 T A 5: 103,517,571 probably null Het
Rock2 C A 12: 16,978,055 N1429K probably benign Het
Slc25a20 T G 9: 108,681,999 M188R possibly damaging Het
Slc28a1 T C 7: 81,169,068 probably benign Het
Sult2a6 T C 7: 14,254,709 Y42C probably damaging Het
Tgfb2 A G 1: 186,704,587 V63A probably benign Het
Ugt2b38 A T 5: 87,411,823 N403K probably damaging Het
Vmn2r29 A G 7: 7,241,856 W340R probably benign Het
Wnt5a C T 14: 28,522,909 T351M probably damaging Het
Other mutations in Ilvbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-04-17