Incidental Mutation 'R6746:Ilvbl'
ID |
532842 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ilvbl
|
Ensembl Gene |
ENSMUSG00000032763 |
Gene Name |
ilvB (bacterial acetolactate synthase)-like |
Synonyms |
|
MMRRC Submission |
044863-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R6746 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78413057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 193
(I193T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152037
(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: I193T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000101023 Gene: ENSMUSG00000032763 AA Change: I193T
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 |
possibly damaging
Transcript: ENSMUST00000218215
AA Change: I193T
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
AA Change: I193T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218763
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218787
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
AA Change: I193T
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
AA Change: I193T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219588
AA Change: I64T
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220430
AA Change: I193T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
100% (58/58) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,565,195 (GRCm39) |
L79* |
probably null |
Het |
Acot3 |
A |
G |
12: 84,100,248 (GRCm39) |
N8S |
probably benign |
Het |
Adora2a |
T |
C |
10: 75,169,442 (GRCm39) |
V302A |
probably benign |
Het |
Anpep |
A |
C |
7: 79,488,933 (GRCm39) |
|
probably null |
Het |
Arrb1 |
A |
G |
7: 99,250,357 (GRCm39) |
K392E |
probably benign |
Het |
Atp8a1 |
A |
T |
5: 67,908,392 (GRCm39) |
N444K |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,623,020 (GRCm39) |
N298K |
probably benign |
Het |
Brinp2 |
C |
T |
1: 158,094,160 (GRCm39) |
G181R |
probably benign |
Het |
Cacna1g |
A |
T |
11: 94,300,253 (GRCm39) |
C2184* |
probably null |
Het |
Cacna1h |
C |
T |
17: 25,600,524 (GRCm39) |
A1606T |
probably damaging |
Het |
Ccdc30 |
T |
C |
4: 119,213,915 (GRCm39) |
T205A |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,696 (GRCm39) |
I759T |
probably damaging |
Het |
Chaf1a |
A |
G |
17: 56,370,404 (GRCm39) |
D623G |
possibly damaging |
Het |
Col6a3 |
G |
T |
1: 90,706,767 (GRCm39) |
N2115K |
unknown |
Het |
Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,523,987 (GRCm39) |
D629G |
possibly damaging |
Het |
Fahd1 |
G |
T |
17: 25,068,915 (GRCm39) |
A54E |
probably damaging |
Het |
Flrt3 |
C |
T |
2: 140,501,945 (GRCm39) |
R561Q |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,747,790 (GRCm39) |
D334V |
probably damaging |
Het |
Helb |
A |
T |
10: 119,941,373 (GRCm39) |
D438E |
probably damaging |
Het |
Hmgcs1 |
T |
C |
13: 120,156,585 (GRCm39) |
|
probably null |
Het |
Hnf4g |
C |
A |
3: 3,722,170 (GRCm39) |
Y441* |
probably null |
Het |
Hspa13 |
A |
T |
16: 75,561,925 (GRCm39) |
N91K |
possibly damaging |
Het |
Itga7 |
T |
C |
10: 128,785,341 (GRCm39) |
V848A |
probably benign |
Het |
Kash5 |
C |
T |
7: 44,849,735 (GRCm39) |
V63I |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,615,529 (GRCm39) |
M341T |
probably benign |
Het |
Lypd5 |
G |
T |
7: 24,052,531 (GRCm39) |
|
probably null |
Het |
Mrgprb1 |
A |
C |
7: 48,097,645 (GRCm39) |
V89G |
possibly damaging |
Het |
Nsun7 |
T |
C |
5: 66,441,080 (GRCm39) |
|
probably null |
Het |
Oasl1 |
T |
A |
5: 115,075,242 (GRCm39) |
V434E |
probably damaging |
Het |
Or2ak6 |
G |
A |
11: 58,593,369 (GRCm39) |
V281I |
probably benign |
Het |
Or7g22 |
A |
G |
9: 19,048,774 (GRCm39) |
M162V |
probably benign |
Het |
Or8k16 |
T |
C |
2: 85,519,952 (GRCm39) |
Y60H |
probably damaging |
Het |
Otor |
T |
A |
2: 142,921,955 (GRCm39) |
|
probably null |
Het |
Pik3cg |
G |
A |
12: 32,244,757 (GRCm39) |
T899M |
probably damaging |
Het |
Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
Pld2 |
C |
A |
11: 70,431,933 (GRCm39) |
L52M |
probably damaging |
Het |
Pon3 |
A |
T |
6: 5,230,786 (GRCm39) |
M247K |
possibly damaging |
Het |
Ppfia2 |
C |
A |
10: 106,742,319 (GRCm39) |
Y1037* |
probably null |
Het |
Ppm1m |
A |
T |
9: 106,075,351 (GRCm39) |
C99* |
probably null |
Het |
Prss44 |
A |
T |
9: 110,644,361 (GRCm39) |
*145C |
probably null |
Het |
Ptpro |
T |
A |
6: 137,371,821 (GRCm39) |
Y613N |
probably damaging |
Het |
Ralgapb |
T |
G |
2: 158,318,056 (GRCm39) |
V866G |
probably damaging |
Het |
Rassf6 |
C |
A |
5: 90,757,633 (GRCm39) |
R109L |
possibly damaging |
Het |
Rbm4b |
A |
C |
19: 4,812,031 (GRCm39) |
T147P |
probably benign |
Het |
Rpl7l1 |
T |
C |
17: 47,090,322 (GRCm39) |
K104R |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,816,829 (GRCm39) |
I69N |
possibly damaging |
Het |
Scd1 |
G |
T |
19: 44,394,927 (GRCm39) |
F99L |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,585,844 (GRCm39) |
I22N |
probably benign |
Het |
Spint2 |
A |
T |
7: 28,958,848 (GRCm39) |
S66T |
probably benign |
Het |
Tarm1 |
T |
A |
7: 3,550,978 (GRCm39) |
I2F |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,542,067 (GRCm39) |
V1860A |
probably damaging |
Het |
Usp38 |
A |
G |
8: 81,740,920 (GRCm39) |
I49T |
possibly damaging |
Het |
Vars2 |
A |
G |
17: 35,971,294 (GRCm39) |
|
probably null |
Het |
Vmn2r27 |
T |
G |
6: 124,177,552 (GRCm39) |
H484P |
possibly damaging |
Het |
Wdr35 |
T |
A |
12: 9,053,982 (GRCm39) |
|
probably null |
Het |
Zfp937 |
A |
T |
2: 150,081,343 (GRCm39) |
K458* |
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 |
|
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 |
|
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'- GCAGGTGCCTAGTCCTTAAG -3'
(R):5'- GGCAACTTGGTTGGTATCATC -3'
Sequencing Primer
(F):5'- CAGGTGCCTAGTCCTTAAGGGTAG -3'
(R):5'- TCTCCTTCTCAACCATGAAGTAAGG -3'
|
Posted On |
2018-08-29 |