Incidental Mutation 'R6509:Lbhd2'
ID |
519870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lbhd2
|
Ensembl Gene |
ENSMUSG00000087075 |
Gene Name |
LBH domain containing 2 |
Synonyms |
A230065H16Rik, LOC380787, Lbh2 |
MMRRC Submission |
044422-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R6509 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
111373243-111378524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111376747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 65
(R65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000150384]
|
AlphaFold |
G3UW55 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150384
AA Change: R65G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128648 Gene: ENSMUSG00000087075 AA Change: R65G
Domain | Start | End | E-Value | Type |
Pfam:Lbh
|
25 |
75 |
5.9e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
G |
A |
5: 109,885,250 (GRCm39) |
R203* |
probably null |
Het |
Ccnc |
A |
G |
4: 21,740,642 (GRCm39) |
N133D |
probably benign |
Het |
Cfap299 |
C |
T |
5: 98,477,256 (GRCm39) |
T15I |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,395,240 (GRCm39) |
S62P |
probably benign |
Het |
Map3k1 |
T |
A |
13: 111,890,363 (GRCm39) |
M1279L |
possibly damaging |
Het |
Ncapg2 |
G |
A |
12: 116,391,376 (GRCm39) |
R475Q |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,117,341 (GRCm39) |
N355I |
probably damaging |
Het |
Or7g29 |
A |
G |
9: 19,286,439 (GRCm39) |
V246A |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,333,298 (GRCm39) |
F241S |
probably benign |
Het |
Rgl3 |
A |
G |
9: 21,883,204 (GRCm39) |
S705P |
probably benign |
Het |
Rsbn1 |
A |
G |
3: 103,867,348 (GRCm39) |
Y563C |
probably damaging |
Het |
Septin9 |
A |
G |
11: 117,181,253 (GRCm39) |
I18V |
probably benign |
Het |
Sycp2 |
G |
A |
2: 178,037,687 (GRCm39) |
P153S |
probably damaging |
Het |
Tbc1d4 |
C |
A |
14: 101,845,754 (GRCm39) |
R48L |
possibly damaging |
Het |
Vmn1r195 |
G |
A |
13: 22,463,279 (GRCm39) |
G250R |
probably benign |
Het |
Vmn2r66 |
G |
T |
7: 84,656,054 (GRCm39) |
P321T |
probably benign |
Het |
|
Other mutations in Lbhd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0265:Lbhd2
|
UTSW |
12 |
111,376,676 (GRCm39) |
missense |
probably damaging |
0.99 |
R2386:Lbhd2
|
UTSW |
12 |
111,376,741 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6524:Lbhd2
|
UTSW |
12 |
111,376,724 (GRCm39) |
missense |
probably damaging |
0.99 |
R7282:Lbhd2
|
UTSW |
12 |
111,376,724 (GRCm39) |
missense |
probably damaging |
0.99 |
R8483:Lbhd2
|
UTSW |
12 |
111,378,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R9072:Lbhd2
|
UTSW |
12 |
111,375,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R9756:Lbhd2
|
UTSW |
12 |
111,376,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCTTCCTAGTAGGACAG -3'
(R):5'- CACAGGTGTGCATTAAGAGGAC -3'
Sequencing Primer
(F):5'- AGAGCCAGCAGTCCATGG -3'
(R):5'- TGTGCATTAAGAGGACAGGTAC -3'
|
Posted On |
2018-06-06 |