Incidental Mutation 'IGL01655:Ilvbl'
| ID |
102986 |
| 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 # |
IGL01655
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 78413167 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151674
(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
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219588
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
G |
A |
3: 97,073,288 (GRCm39) |
|
probably null |
Het |
| Aida |
T |
A |
1: 183,094,618 (GRCm39) |
Y104* |
probably null |
Het |
| Cd300lg |
T |
C |
11: 101,937,901 (GRCm39) |
S244P |
probably benign |
Het |
| Ces4a |
T |
A |
8: 105,873,806 (GRCm39) |
L425Q |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,884,202 (GRCm39) |
V298A |
probably damaging |
Het |
| Cnot6 |
A |
C |
11: 49,568,131 (GRCm39) |
F486C |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,708,949 (GRCm39) |
T663A |
probably benign |
Het |
| Cyp2j12 |
T |
A |
4: 96,003,814 (GRCm39) |
K267N |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,535,489 (GRCm39) |
Y32N |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,423,270 (GRCm39) |
I644T |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 63,967,566 (GRCm39) |
Y55* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,358,181 (GRCm39) |
I183T |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,622,967 (GRCm39) |
T467A |
probably benign |
Het |
| Fance |
T |
C |
17: 28,541,753 (GRCm39) |
|
probably benign |
Het |
| Fbxo46 |
C |
T |
7: 18,870,235 (GRCm39) |
R285W |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,012 (GRCm39) |
V176E |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,362,398 (GRCm39) |
|
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,565 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12588 |
T |
A |
11: 121,798,777 (GRCm39) |
|
|
Het |
| Gm9755 |
G |
A |
8: 67,967,885 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr33 |
A |
T |
12: 52,070,343 (GRCm39) |
M232K |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,362,719 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,623,618 (GRCm39) |
|
probably benign |
Het |
| Klhl26 |
T |
C |
8: 70,904,533 (GRCm39) |
Y378C |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,936,209 (GRCm39) |
S628N |
probably benign |
Het |
| Lamc3 |
G |
A |
2: 31,788,290 (GRCm39) |
R150H |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,439 (GRCm39) |
C126* |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,428,137 (GRCm39) |
D798V |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,190,716 (GRCm39) |
L44Q |
probably damaging |
Het |
| Nfrkb |
G |
T |
9: 31,314,755 (GRCm39) |
R525L |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,229 (GRCm39) |
C133S |
probably damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,753 (GRCm39) |
I148M |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,257,075 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,474 (GRCm39) |
T160A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,280,234 (GRCm39) |
F250L |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,641 (GRCm39) |
M86T |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,486,773 (GRCm39) |
F164S |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,214 (GRCm39) |
I208F |
probably benign |
Het |
| Or9r7 |
G |
T |
10: 129,962,860 (GRCm39) |
T22K |
probably benign |
Het |
| Pias4 |
T |
C |
10: 80,991,492 (GRCm39) |
K352E |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,604,857 (GRCm39) |
Q1153* |
probably null |
Het |
| Pon1 |
C |
A |
6: 5,175,760 (GRCm39) |
W254C |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,074,939 (GRCm39) |
T447A |
probably benign |
Het |
| Serpinb9g |
T |
A |
13: 33,679,088 (GRCm39) |
C319* |
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,403,335 (GRCm39) |
M801L |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,202,931 (GRCm39) |
T182M |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,107 (GRCm39) |
L813Q |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,176,517 (GRCm39) |
E667G |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,134,546 (GRCm39) |
T2173A |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,429,822 (GRCm39) |
S142P |
probably benign |
Het |
| Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
| Vps53 |
A |
T |
11: 75,953,860 (GRCm39) |
I402N |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,499,289 (GRCm39) |
D1343G |
probably damaging |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation