Incidental Mutation 'R5040:Ilvbl'
ID |
393178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilvbl
|
Ensembl Gene |
ENSMUSG00000032763 |
Gene Name |
ilvB (bacterial acetolactate synthase)-like |
Synonyms |
|
MMRRC Submission |
042630-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R5040 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78419152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 467
(D467G)
|
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 damaging
Transcript: ENSMUST00000105384
AA Change: D467G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101023 Gene: ENSMUSG00000032763 AA Change: D467G
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: D467G
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 damaging
Transcript: ENSMUST00000218875
AA Change: D467G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218885
AA Change: D467G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219588
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220430
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219971
|
Meta Mutation Damage Score |
0.9472 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
98% (63/64) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAAGGAGCAGACCTATCG -3'
(R):5'- TTGGCCCCAAGTGCAAAACC -3'
Sequencing Primer
(F):5'- ACCTATCGGTCAGTCTGGGTC -3'
(R):5'- CTGCGCCAACTCCCAGAG -3'
|
Posted On |
2016-06-15 |