Incidental Mutation 'IGL01768:Ilvbl'
| ID |
154010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ilvbl
|
| Ensembl Gene |
ENSMUSG00000032763 |
| Gene Name |
ilvB (bacterial acetolactate synthase)-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL01768
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78419127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 459
(P459T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040580]
[ENSMUST00000105384]
[ENSMUST00000218215]
[ENSMUST00000218271]
[ENSMUST00000218875]
[ENSMUST00000218885]
[ENSMUST00000220430]
|
| AlphaFold |
Q8BU33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040580
|
| SMART Domains |
Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000105384
AA Change: P459T
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: P459T
| 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: ENSMUST00000218215
AA Change: P459T
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218670
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218875
AA Change: P459T
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
AA Change: P459T
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm3 |
T |
C |
16: 17,324,141 (GRCm39) |
V567A |
possibly damaging |
Het |
| Arnt |
T |
C |
3: 95,398,327 (GRCm39) |
|
probably benign |
Het |
| C8b |
G |
A |
4: 104,644,151 (GRCm39) |
E273K |
probably benign |
Het |
| Capn5 |
C |
T |
7: 97,774,480 (GRCm39) |
R570H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,778,311 (GRCm39) |
D42V |
possibly damaging |
Het |
| Cdk17 |
T |
C |
10: 93,044,123 (GRCm39) |
S21P |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,916,744 (GRCm39) |
F291I |
probably damaging |
Het |
| Cfap210 |
A |
T |
2: 69,612,471 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,747,978 (GRCm39) |
E523G |
probably damaging |
Het |
| Cyp4f14 |
A |
T |
17: 33,126,976 (GRCm39) |
I318N |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 72,036,659 (GRCm39) |
F1068L |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,621,455 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,003,914 (GRCm39) |
F236L |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,394 (GRCm39) |
V3606A |
probably damaging |
Het |
| Gpam |
G |
A |
19: 55,075,952 (GRCm39) |
T220M |
probably benign |
Het |
| Hyal1 |
C |
A |
9: 107,456,338 (GRCm39) |
L342I |
probably damaging |
Het |
| Itga5 |
A |
G |
15: 103,259,997 (GRCm39) |
Y632H |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,899 (GRCm39) |
L217M |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,707,291 (GRCm39) |
D299G |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,461,573 (GRCm39) |
V522A |
probably benign |
Het |
| Lmo3 |
A |
G |
6: 138,393,495 (GRCm39) |
C53R |
probably damaging |
Het |
| Nsun7 |
T |
C |
5: 66,436,043 (GRCm39) |
V305A |
probably benign |
Het |
| Oprm1 |
T |
C |
10: 6,779,186 (GRCm39) |
S196P |
probably damaging |
Het |
| Or2y1e |
G |
A |
11: 49,218,958 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,403 (GRCm39) |
I200N |
probably damaging |
Het |
| Or7e168 |
G |
A |
9: 19,720,456 (GRCm39) |
V281M |
possibly damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,888,667 (GRCm39) |
|
probably null |
Het |
| Pcdhb20 |
T |
C |
18: 37,639,768 (GRCm39) |
F765L |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,664 (GRCm39) |
V3A |
probably benign |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,253 (GRCm39) |
I419V |
probably benign |
Het |
| Scara5 |
T |
A |
14: 65,927,224 (GRCm39) |
C40* |
probably null |
Het |
| Siglec1 |
T |
C |
2: 130,916,314 (GRCm39) |
Q1212R |
probably benign |
Het |
| Slc31a1 |
G |
A |
4: 62,306,273 (GRCm39) |
|
probably null |
Het |
| Sparc |
G |
T |
11: 55,296,069 (GRCm39) |
N87K |
probably damaging |
Het |
| Tcf12 |
T |
C |
9: 71,776,278 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,860 (GRCm39) |
F258I |
probably benign |
Het |
| Tm2d2 |
G |
T |
8: 25,508,095 (GRCm39) |
V80L |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,199 (GRCm39) |
D2249G |
possibly damaging |
Het |
| Trim50 |
G |
T |
5: 135,392,736 (GRCm39) |
G217V |
possibly damaging |
Het |
| Ugcg |
T |
C |
4: 59,217,216 (GRCm39) |
|
probably null |
Het |
| Vmn2r107 |
A |
T |
17: 20,565,868 (GRCm39) |
H61L |
probably benign |
Het |
| Zfp84 |
A |
G |
7: 29,476,091 (GRCm39) |
H261R |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,748,301 (GRCm39) |
M293K |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation