Incidental Mutation 'R5795:Ilvbl'
ID |
447185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilvbl
|
Ensembl Gene |
ENSMUSG00000032763 |
Gene Name |
ilvB (bacterial acetolactate synthase)-like |
Synonyms |
|
MMRRC Submission |
043386-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R5795 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78412978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 167
(S167P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105384]
[ENSMUST00000218061]
[ENSMUST00000218215]
[ENSMUST00000218271]
[ENSMUST00000218763]
[ENSMUST00000218787]
[ENSMUST00000218875]
[ENSMUST00000218885]
[ENSMUST00000220430]
|
AlphaFold |
Q8BU33 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105384
AA Change: S167P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000101023 Gene: ENSMUSG00000032763 AA Change: S167P
Domain | Start | End | E-Value | Type |
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: S167P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
AA Change: S167P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218787
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
AA Change: S167P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
AA Change: S167P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220430
AA Change: S167P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219588
AA Change: S38P
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
G |
9: 104,186,688 (GRCm39) |
V261A |
probably benign |
Het |
Adipor1 |
C |
A |
1: 134,352,641 (GRCm39) |
N137K |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,989,746 (GRCm39) |
K3677* |
probably null |
Het |
Ankrd24 |
C |
A |
10: 81,480,937 (GRCm39) |
|
probably benign |
Het |
Appl1 |
G |
T |
14: 26,664,773 (GRCm39) |
P420Q |
probably benign |
Het |
Bmp8b |
C |
A |
4: 123,015,761 (GRCm39) |
F249L |
possibly damaging |
Het |
Brat1 |
G |
T |
5: 140,698,827 (GRCm39) |
A275S |
probably benign |
Het |
C5ar1 |
T |
C |
7: 15,982,319 (GRCm39) |
K234E |
possibly damaging |
Het |
Cblif |
A |
G |
19: 11,737,740 (GRCm39) |
T384A |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,883,367 (GRCm39) |
|
probably null |
Het |
Chmp5 |
T |
G |
4: 40,950,562 (GRCm39) |
|
probably null |
Het |
Chrna3 |
T |
A |
9: 54,922,552 (GRCm39) |
T419S |
probably benign |
Het |
Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
Csf3 |
G |
T |
11: 98,592,853 (GRCm39) |
C72F |
probably damaging |
Het |
Dbndd1 |
A |
G |
8: 124,236,619 (GRCm39) |
I83T |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,248,309 (GRCm39) |
K287E |
probably damaging |
Het |
F5 |
C |
T |
1: 163,979,578 (GRCm39) |
T16I |
probably benign |
Het |
Hephl1 |
C |
T |
9: 14,981,056 (GRCm39) |
G792E |
probably damaging |
Het |
Hmmr |
T |
A |
11: 40,612,733 (GRCm39) |
D158V |
probably damaging |
Het |
Hsd11b1 |
A |
G |
1: 192,922,940 (GRCm39) |
S76P |
possibly damaging |
Het |
Irf7 |
G |
A |
7: 140,845,029 (GRCm39) |
P118L |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,103,722 (GRCm39) |
N1981S |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,304,816 (GRCm39) |
D224G |
probably benign |
Het |
Mink1 |
T |
C |
11: 70,498,616 (GRCm39) |
Y594H |
possibly damaging |
Het |
Minpp1 |
G |
A |
19: 32,491,557 (GRCm39) |
V412M |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,425,478 (GRCm39) |
V4708M |
possibly damaging |
Het |
Mycl |
G |
A |
4: 122,890,415 (GRCm39) |
E34K |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,135,241 (GRCm39) |
D179V |
probably damaging |
Het |
Ogfod2 |
G |
A |
5: 124,252,824 (GRCm39) |
G278D |
probably damaging |
Het |
Or2h1 |
A |
G |
17: 37,404,661 (GRCm39) |
L35P |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,897,188 (GRCm39) |
F162L |
possibly damaging |
Het |
Paf1 |
T |
G |
7: 28,096,043 (GRCm39) |
M250R |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,008,420 (GRCm39) |
T48A |
possibly damaging |
Het |
Pdzph1 |
A |
G |
17: 59,192,862 (GRCm39) |
V1096A |
possibly damaging |
Het |
Polr3b |
T |
C |
10: 84,512,875 (GRCm39) |
S586P |
probably damaging |
Het |
Polr3b |
A |
T |
10: 84,464,116 (GRCm39) |
E25D |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc28a2b |
T |
C |
2: 122,348,475 (GRCm39) |
M274T |
possibly damaging |
Het |
Slc31a2 |
T |
C |
4: 62,215,289 (GRCm39) |
V112A |
probably damaging |
Het |
Spire1 |
A |
T |
18: 67,628,265 (GRCm39) |
S412T |
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,637,926 (GRCm39) |
T876A |
possibly damaging |
Het |
Tango6 |
T |
A |
8: 107,444,709 (GRCm39) |
L538H |
probably damaging |
Het |
Tas2r125 |
G |
A |
6: 132,886,621 (GRCm39) |
G3D |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,091,158 (GRCm39) |
M125K |
possibly damaging |
Het |
Traf5 |
T |
C |
1: 191,731,807 (GRCm39) |
S345G |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,175,594 (GRCm39) |
I1231F |
probably benign |
Het |
Vmn2r104 |
G |
T |
17: 20,250,372 (GRCm39) |
T633N |
probably benign |
Het |
Vmn2r104 |
A |
G |
17: 20,250,544 (GRCm39) |
S576P |
possibly damaging |
Het |
Vmn2r105 |
A |
T |
17: 20,448,998 (GRCm39) |
C60S |
probably benign |
Het |
Zfp316 |
A |
T |
5: 143,248,594 (GRCm39) |
D217E |
unknown |
Het |
Zfp456 |
A |
T |
13: 67,515,039 (GRCm39) |
D222E |
probably benign |
Het |
|
Other mutations in Ilvbl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GACTGCAGTGAAGAATGCAC -3'
(R):5'- ACAAACACTGGACCTGCAGG -3'
Sequencing Primer
(F):5'- TGCACAAGTGGCACAGTC -3'
(R):5'- GAGGTTCAGTCTATGGCACC -3'
|
Posted On |
2016-12-15 |