Incidental Mutation 'R1381:Ilvbl'
ID 163039
Institutional Source Beutler Lab
Gene Symbol Ilvbl
Ensembl Gene ENSMUSG00000032763
Gene Name ilvB (bacterial acetolactate synthase)-like
Synonyms
MMRRC Submission 039443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1381 (G1)
Quality Score 205
Status Not validated
Chromosome 10
Chromosomal Location 78410180-78420336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78412430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 50 (S50R)
Ref Sequence ENSEMBL: ENSMUSP00000151470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105384] [ENSMUST00000218061] [ENSMUST00000218215] [ENSMUST00000218271] [ENSMUST00000218763] [ENSMUST00000218787] [ENSMUST00000220430] [ENSMUST00000218875] [ENSMUST00000218885]
AlphaFold Q8BU33
Predicted Effect possibly damaging
Transcript: ENSMUST00000105384
AA Change: S50R

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: S50R

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: ENSMUST00000218061
AA Change: S50R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218215
AA Change: S50R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218271
AA Change: S50R

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000218763
AA Change: S50R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000218787
AA Change: S50R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220430
AA Change: S50R

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000218875
AA Change: S50R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218885
AA Change: S50R

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000219588
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dennd4c G A 4: 86,692,769 (GRCm39) R93K probably benign Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Galntl6 G T 8: 58,925,989 (GRCm39) P92Q probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lrig1 T C 6: 94,583,111 (GRCm39) N1002D probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Pkd2l1 T C 19: 44,138,902 (GRCm39) I649M probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptcd2 A G 13: 99,481,105 (GRCm39) S25P probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly damaging 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
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
R3621:Ilvbl UTSW 10 78,413,014 (GRCm39) missense probably damaging 1.00
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'- CTAGGAAGCAGGCACACATCTAAGC -3'
(R):5'- AGCAAAGACAGCAGTGACCTCGTG -3'

Sequencing Primer
(F):5'- gcttgtctaacactatctatgcc -3'
(R):5'- AGTGACCTCGTGGCGTG -3'
Posted On 2014-03-17