Incidental Mutation 'IGL00959:Ilvbl'
| ID |
28381 |
| 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 # |
IGL00959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78419739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 548
(D548N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152037
(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 |
possibly damaging
Transcript: ENSMUST00000105384
AA Change: D548N
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: D548N
| 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 damaging
Transcript: ENSMUST00000218215
AA Change: D548N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218670
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218885
AA Change: D548N
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
| Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
| Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
| Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
| Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
| Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
| Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
| Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
| Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
| Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
| Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
| Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
| Saxo4 |
A |
T |
19: 10,454,887 (GRCm39) |
|
probably null |
Het |
| Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
| Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
| Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
| Other mutations in Ilvbl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2013-04-17 |
Incidental Mutation