Incidental Mutation 'R4563:Kbtbd2'
| ID |
343193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd2
|
| Ensembl Gene |
ENSMUSG00000059486 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 2 |
| Synonyms |
Bklhd1 |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
56754510-56774798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56766264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 37
(V37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114321]
[ENSMUST00000114323]
[ENSMUST00000151308]
|
| AlphaFold |
G3X9X1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114321
AA Change: V37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
128 |
1.5e-28 |
SMART |
|
BACK
|
133 |
235 |
7.34e-27 |
SMART |
|
Kelch
|
317 |
380 |
7.31e0 |
SMART |
|
Kelch
|
381 |
429 |
4.33e-4 |
SMART |
|
Kelch
|
430 |
469 |
2.7e0 |
SMART |
|
Kelch
|
470 |
532 |
7.7e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114323
AA Change: V37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
31 |
128 |
1.5e-28 |
SMART |
|
BACK
|
133 |
235 |
7.34e-27 |
SMART |
|
Kelch
|
317 |
380 |
7.31e0 |
SMART |
|
Kelch
|
381 |
429 |
4.33e-4 |
SMART |
|
Kelch
|
430 |
469 |
2.7e0 |
SMART |
|
Kelch
|
470 |
532 |
7.7e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124994
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151308
|
| Meta Mutation Damage Score |
0.6288 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Kbtbd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Kbtbd2
|
APN |
6 |
56,756,033 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
infinitesimal
|
UTSW |
6 |
56,756,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
teeny
|
UTSW |
6 |
56,757,374 (GRCm39) |
nonsense |
probably null |
|
|
tiny
|
UTSW |
6 |
56,756,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0491:Kbtbd2
|
UTSW |
6 |
56,757,374 (GRCm39) |
nonsense |
probably null |
|
|
R1452:Kbtbd2
|
UTSW |
6 |
56,758,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1696:Kbtbd2
|
UTSW |
6 |
56,756,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2146:Kbtbd2
|
UTSW |
6 |
56,756,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Kbtbd2
|
UTSW |
6 |
56,755,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4702:Kbtbd2
|
UTSW |
6 |
56,756,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4855:Kbtbd2
|
UTSW |
6 |
56,756,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4959:Kbtbd2
|
UTSW |
6 |
56,758,943 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4973:Kbtbd2
|
UTSW |
6 |
56,758,943 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5096:Kbtbd2
|
UTSW |
6 |
56,756,260 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6360:Kbtbd2
|
UTSW |
6 |
56,756,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6754:Kbtbd2
|
UTSW |
6 |
56,756,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6864:Kbtbd2
|
UTSW |
6 |
56,757,011 (GRCm39) |
nonsense |
probably null |
|
|
R6900:Kbtbd2
|
UTSW |
6 |
56,757,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7738:Kbtbd2
|
UTSW |
6 |
56,756,722 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8409:Kbtbd2
|
UTSW |
6 |
56,757,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9203:Kbtbd2
|
UTSW |
6 |
56,755,987 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9213:Kbtbd2
|
UTSW |
6 |
56,756,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Kbtbd2
|
UTSW |
6 |
56,757,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9280:Kbtbd2
|
UTSW |
6 |
56,755,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Kbtbd2
|
UTSW |
6 |
56,756,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9715:Kbtbd2
|
UTSW |
6 |
56,756,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Kbtbd2
|
UTSW |
6 |
56,757,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAGCATCTCCAGTGAG -3'
(R):5'- AAGTGAACTCCCTCCTTTGC -3'
Sequencing Primer
(F):5'- AGTGAGATGCGCTGGTTCCAC -3'
(R):5'- TGAAGTATTCATTTGACCTTCCATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation