Incidental Mutation 'R9713:Ilvbl'
| ID |
730324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ilvbl
|
| Ensembl Gene |
ENSMUSG00000032763 |
| Gene Name |
ilvB (bacterial acetolactate synthase)-like |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R9713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78410180-78420336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78412489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 70
(V70A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101023
(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: V70A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
AA Change: V70A
| 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
AA Change: V70A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218215
AA Change: V70A
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
AA Change: V70A
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218787
AA Change: V70A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218875
AA Change: V70A
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
AA Change: V70A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219588
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220430
AA Change: V70A
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
T |
14: 41,820,060 (GRCm39) |
I107F |
probably benign |
Het |
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,528,556 (GRCm39) |
I277N |
probably damaging |
Het |
| Atp11b |
A |
T |
3: 35,885,560 (GRCm39) |
Y851F |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,801,751 (GRCm39) |
S731P |
probably damaging |
Het |
| Csf2rb2 |
A |
G |
15: 78,176,730 (GRCm39) |
S221P |
possibly damaging |
Het |
| Dact3 |
A |
T |
7: 16,620,292 (GRCm39) |
I596F |
unknown |
Het |
| Eya4 |
A |
T |
10: 23,027,870 (GRCm39) |
Y287* |
probably null |
Het |
| Folr2 |
T |
C |
7: 101,489,809 (GRCm39) |
D153G |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,866,409 (GRCm39) |
I37L |
probably benign |
Het |
| H2ac8 |
G |
A |
13: 23,755,041 (GRCm39) |
P81L |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,823,328 (GRCm39) |
M1027T |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hsd17b2 |
A |
T |
8: 118,485,342 (GRCm39) |
|
probably null |
Het |
| Igkv4-74 |
A |
G |
6: 69,161,993 (GRCm39) |
Y59H |
probably damaging |
Het |
| Klrh1 |
A |
G |
6: 129,752,359 (GRCm39) |
V52A |
possibly damaging |
Het |
| Ly9 |
A |
C |
1: 171,428,756 (GRCm39) |
I288S |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,678 (GRCm39) |
E3208G |
probably benign |
Het |
| Myo1b |
G |
A |
1: 51,818,766 (GRCm39) |
T503I |
possibly damaging |
Het |
| Ntm |
T |
A |
9: 29,090,327 (GRCm39) |
I131F |
possibly damaging |
Het |
| Odad1 |
T |
G |
7: 45,578,562 (GRCm39) |
V45G |
probably damaging |
Het |
| Or1p4-ps1 |
A |
G |
11: 74,208,078 (GRCm39) |
T76A |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,633 (GRCm39) |
*317Q |
probably null |
Het |
| Or52ae7 |
C |
T |
7: 103,119,914 (GRCm39) |
L223F |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,727 (GRCm39) |
Y232F |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,488,041 (GRCm39) |
T254A |
possibly damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,828,123 (GRCm39) |
S1317P |
probably damaging |
Het |
| Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
| Spen |
G |
A |
4: 141,244,331 (GRCm39) |
R235C |
unknown |
Het |
| Sycp2l |
C |
A |
13: 41,326,183 (GRCm39) |
A746D |
probably damaging |
Het |
| Tgm3 |
A |
G |
2: 129,867,229 (GRCm39) |
E158G |
possibly damaging |
Het |
| Trim26 |
A |
T |
17: 37,168,307 (GRCm39) |
D324V |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,353,475 (GRCm39) |
S42P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,682,434 (GRCm39) |
E952* |
probably null |
Het |
| Ulk4 |
C |
A |
9: 120,873,862 (GRCm39) |
E1190* |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,458 (GRCm39) |
S229T |
probably damaging |
Het |
| Wwc1 |
C |
A |
11: 35,766,576 (GRCm39) |
A560S |
probably benign |
Het |
| Zfp787 |
A |
G |
7: 6,146,059 (GRCm39) |
|
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 |
|
|
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 |
|
|
Z1177:Ilvbl
|
UTSW |
10 |
78,416,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGTACCCTTCTCTGAATTGG -3'
(R):5'- TCTCATTCACAGGGGCCATG -3'
Sequencing Primer
(F):5'- CTAACCAGAATCTAAGTTCGTCTGTC -3'
(R):5'- ATTCACAGGGGCCATGTCACTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation