Incidental Mutation 'R3621:Ilvbl'
ID 268637
Institutional Source Beutler Lab
Gene Symbol Ilvbl
Ensembl Gene ENSMUSG00000032763
Gene Name ilvB (bacterial acetolactate synthase)-like
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R3621 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 78410180-78420336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 78413014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 179 (V179M)
Ref Sequence ENSEMBL: ENSMUSP00000151674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105384] [ENSMUST00000218061] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218763] [ENSMUST00000218787] [ENSMUST00000220430] [ENSMUST00000218885] [ENSMUST00000218875]
AlphaFold Q8BU33
Predicted Effect probably damaging
Transcript: ENSMUST00000105384
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: V179M

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 damaging
Transcript: ENSMUST00000218215
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000218271
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000218763
Predicted Effect probably benign
Transcript: ENSMUST00000218787
Predicted Effect probably damaging
Transcript: ENSMUST00000220430
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000219588
AA Change: V50M
Predicted Effect probably damaging
Transcript: ENSMUST00000218885
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000218875
AA Change: V179M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,140,735 (GRCm39) S161P probably damaging Het
Atp8a2 C A 14: 60,263,587 (GRCm39) probably null Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Cep192 T C 18: 67,962,928 (GRCm39) V648A probably benign Het
Csmd1 T C 8: 16,042,684 (GRCm39) S2350G probably benign Het
Enpp6 T C 8: 47,518,540 (GRCm39) W223R probably benign Het
Erich3 T C 3: 154,454,369 (GRCm39) Y515H possibly damaging Het
Fam118a T C 15: 84,930,002 (GRCm39) F77L probably damaging Het
Fsip2 C A 2: 82,810,602 (GRCm39) T2307K probably benign Het
Gcg T C 2: 62,307,279 (GRCm39) E94G probably damaging Het
Hdc T A 2: 126,458,187 (GRCm39) Y45F possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspa8 A T 9: 40,713,219 (GRCm39) M1L probably damaging Het
Mettl4 T C 17: 95,042,936 (GRCm39) Y300C probably damaging Het
Or7d10 T C 9: 19,832,209 (GRCm39) Y235H probably damaging Het
Otogl T C 10: 107,710,232 (GRCm39) D619G probably damaging Het
Pnpla1 C T 17: 29,096,362 (GRCm39) A147V probably damaging Het
Slc24a4 T C 12: 102,185,222 (GRCm39) F111L probably damaging Het
Tep1 G A 14: 51,066,477 (GRCm39) R2328C probably damaging Het
Thbs1 T C 2: 117,951,640 (GRCm39) V820A probably benign Het
Timd2 G A 11: 46,569,040 (GRCm39) T206I probably benign Het
Zfp445 C T 9: 122,681,833 (GRCm39) A703T probably benign Het
Zpbp2 A G 11: 98,443,382 (GRCm39) T18A probably benign Het
Other mutations in Ilvbl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Ilvbl APN 10 78,419,739 (GRCm39) missense probably damaging 1.00
IGL00962:Ilvbl APN 10 78,419,172 (GRCm39) missense possibly damaging 0.95
IGL01655:Ilvbl APN 10 78,413,167 (GRCm39) splice site probably benign
IGL01657:Ilvbl APN 10 78,412,602 (GRCm39) missense possibly damaging 0.57
IGL01682:Ilvbl APN 10 78,412,941 (GRCm39) splice site probably benign
IGL01768:Ilvbl APN 10 78,419,127 (GRCm39) missense possibly damaging 0.80
IGL01982:Ilvbl APN 10 78,414,856 (GRCm39) missense probably damaging 1.00
IGL02207:Ilvbl APN 10 78,419,536 (GRCm39) critical splice donor site probably null
IGL02561:Ilvbl APN 10 78,412,978 (GRCm39) missense probably benign 0.01
IGL02985:Ilvbl APN 10 78,414,901 (GRCm39) missense probably benign 0.00
R0398:Ilvbl UTSW 10 78,415,373 (GRCm39) missense probably damaging 0.99
R0557:Ilvbl UTSW 10 78,419,321 (GRCm39) nonsense probably null
R0562:Ilvbl UTSW 10 78,419,321 (GRCm39) missense probably damaging 1.00
R0583:Ilvbl UTSW 10 78,419,101 (GRCm39) missense probably damaging 0.99
R1381:Ilvbl UTSW 10 78,412,430 (GRCm39) missense probably damaging 1.00
R1484:Ilvbl UTSW 10 78,412,564 (GRCm39) missense probably damaging 1.00
R1537:Ilvbl UTSW 10 78,415,565 (GRCm39) missense probably benign 0.31
R1862:Ilvbl UTSW 10 78,419,958 (GRCm39) missense probably benign 0.00
R2474:Ilvbl UTSW 10 78,412,558 (GRCm39) missense probably damaging 1.00
R2876:Ilvbl UTSW 10 78,418,890 (GRCm39) missense probably benign
R3811:Ilvbl UTSW 10 78,414,869 (GRCm39) missense probably benign
R4591:Ilvbl UTSW 10 78,419,139 (GRCm39) missense probably benign 0.01
R5040:Ilvbl UTSW 10 78,419,152 (GRCm39) missense probably damaging 1.00
R5449:Ilvbl UTSW 10 78,412,862 (GRCm39) critical splice donor site probably null
R5795:Ilvbl UTSW 10 78,412,978 (GRCm39) missense probably benign 0.01
R5910:Ilvbl UTSW 10 78,412,947 (GRCm39) missense probably benign
R6746:Ilvbl UTSW 10 78,413,057 (GRCm39) missense possibly damaging 0.48
R7019:Ilvbl UTSW 10 78,414,920 (GRCm39) missense probably damaging 0.96
R7223:Ilvbl UTSW 10 78,419,530 (GRCm39) missense probably benign 0.31
R7494:Ilvbl UTSW 10 78,414,857 (GRCm39) missense possibly damaging 0.76
R7576:Ilvbl UTSW 10 78,419,531 (GRCm39) missense possibly damaging 0.45
R7727:Ilvbl UTSW 10 78,412,500 (GRCm39) missense probably benign 0.00
R7777:Ilvbl UTSW 10 78,413,085 (GRCm39) critical splice donor site probably null
R7800:Ilvbl UTSW 10 78,419,809 (GRCm39) missense possibly damaging 0.48
R8082:Ilvbl UTSW 10 78,419,987 (GRCm39) missense probably damaging 0.98
R8697:Ilvbl UTSW 10 78,419,196 (GRCm39) nonsense probably null
R9713:Ilvbl UTSW 10 78,412,489 (GRCm39) missense probably benign 0.09
Z1177:Ilvbl UTSW 10 78,416,958 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGACTGCAGTGAAGAATGC -3'
(R):5'- ACAAACACTGGACCTGCAGG -3'

Sequencing Primer
(F):5'- TGCACAAGTGGCACAGTC -3'
(R):5'- CAGGGTAGGGAGGTTCAGTC -3'
Posted On 2015-02-19