Incidental Mutation 'IGL02561:Ilvbl'
| ID |
298653 |
| 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: 0.100)
|
| Stock # |
IGL02561
|
| Quality Score |
|
|
Status
|
|
| 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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
| Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
| Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
| Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
| Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
| Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
| Gtf2a1 |
A |
T |
12: 91,542,527 (GRCm39) |
D57E |
possibly damaging |
Het |
| Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
| Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
| Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
| Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
| Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
| Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
| Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
| Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
| Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
| Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation