Incidental Mutation 'R8082:Ilvbl'
| ID |
629425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ilvbl
|
| Ensembl Gene |
ENSMUSG00000032763 |
| Gene Name |
ilvB (bacterial acetolactate synthase)-like |
| Synonyms |
|
| MMRRC Submission |
067515-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 78419987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 602
(R602C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101023
(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: R602C
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: R602C
| 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: ENSMUST00000218215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218885
AA Change: R602C
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220430
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,188,895 (GRCm39) |
|
probably null |
Het |
| 4921524J17Rik |
G |
A |
8: 86,136,468 (GRCm39) |
A133V |
possibly damaging |
Het |
| AAdacl4fm3 |
A |
C |
4: 144,441,897 (GRCm39) |
F118C |
probably damaging |
Het |
| Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
| Ankrd34c |
C |
A |
9: 89,610,768 (GRCm39) |
K524N |
probably damaging |
Het |
| Bicd2 |
C |
T |
13: 49,532,529 (GRCm39) |
Q372* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,323,313 (GRCm39) |
M1002L |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,786 (GRCm39) |
Y86C |
possibly damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,954,588 (GRCm39) |
I220V |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,313 (GRCm39) |
T773A |
probably benign |
Het |
| Cgn |
A |
G |
3: 94,670,368 (GRCm39) |
F1029L |
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 100,306,941 (GRCm39) |
M515K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,661,129 (GRCm39) |
K327* |
probably null |
Het |
| Cspg4 |
A |
G |
9: 56,793,177 (GRCm39) |
Y304C |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,177,127 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,807,852 (GRCm39) |
A1672V |
probably benign |
Het |
| Emilin3 |
A |
C |
2: 160,750,066 (GRCm39) |
V561G |
probably damaging |
Het |
| Fam3c |
T |
A |
6: 22,343,303 (GRCm39) |
D12V |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,574,119 (GRCm39) |
V158A |
probably damaging |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,621 (GRCm39) |
R224G |
probably damaging |
Het |
| Gid4 |
A |
G |
11: 60,327,273 (GRCm39) |
K153E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hic2 |
A |
G |
16: 17,076,563 (GRCm39) |
H464R |
probably damaging |
Het |
| Ints15 |
T |
C |
5: 143,297,607 (GRCm39) |
R147G |
probably benign |
Het |
| Izumo1r |
T |
A |
9: 14,805,373 (GRCm39) |
D171V |
unknown |
Het |
| Kel |
T |
A |
6: 41,680,424 (GRCm39) |
E12V |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,466 (GRCm39) |
S14P |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,377,975 (GRCm39) |
S147C |
probably damaging |
Het |
| Lgals1 |
C |
T |
15: 78,814,301 (GRCm39) |
A122V |
probably benign |
Het |
| Lgsn |
C |
T |
1: 31,243,273 (GRCm39) |
H452Y |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,348,248 (GRCm39) |
I2816F |
unknown |
Het |
| Mcoln1 |
T |
A |
8: 3,557,420 (GRCm39) |
I142K |
probably benign |
Het |
| Met |
G |
A |
6: 17,492,312 (GRCm39) |
R358Q |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,504,103 (GRCm39) |
C1276S |
possibly damaging |
Het |
| Mrc1 |
T |
C |
2: 14,253,771 (GRCm39) |
M264T |
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,229,135 (GRCm39) |
T81M |
probably benign |
Het |
| Myo5c |
G |
A |
9: 75,182,793 (GRCm39) |
A811T |
possibly damaging |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
| Ndufs3 |
T |
C |
2: 90,725,208 (GRCm39) |
D213G |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,897 (GRCm39) |
E4V |
probably benign |
Het |
| Or5ac20 |
T |
C |
16: 59,104,750 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or5g9 |
T |
C |
2: 85,551,824 (GRCm39) |
V25A |
probably benign |
Het |
| Or9g8 |
T |
A |
2: 85,607,044 (GRCm39) |
L39I |
probably benign |
Het |
| Otog |
C |
T |
7: 45,939,143 (GRCm39) |
R2058C |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,336,179 (GRCm39) |
K831M |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,957,652 (GRCm39) |
D569G |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,491,927 (GRCm39) |
L362P |
probably damaging |
Het |
| Rims2 |
G |
T |
15: 39,339,919 (GRCm39) |
R871L |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,027,555 (GRCm39) |
I54N |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,548 (GRCm39) |
D263G |
possibly damaging |
Het |
| Slc43a1 |
C |
T |
2: 84,687,244 (GRCm39) |
R382C |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,353,527 (GRCm39) |
R193G |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,816,579 (GRCm39) |
K484N |
probably benign |
Het |
| Sry |
T |
A |
Y: 2,662,589 (GRCm39) |
Q357L |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,789 (GRCm39) |
D135V |
possibly damaging |
Het |
| Tekt3 |
T |
G |
11: 62,961,056 (GRCm39) |
V75G |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,351 (GRCm39) |
L198P |
probably damaging |
Het |
| Tuba1a |
C |
T |
15: 98,848,742 (GRCm39) |
V177I |
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 |
|
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 |
|
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'- TGTAGCCTGGCTTACACTGG -3'
(R):5'- CATTCCCCACTTAGAGGGTTAGAC -3'
Sequencing Primer
(F):5'- CCTGGCTTACACTGGTGAGG -3'
(R):5'- CCCACTTAGAGGGTTAGACCTTATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation