Incidental Mutation 'R6900:Kbtbd2'
| ID |
538486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd2
|
| Ensembl Gene |
ENSMUSG00000059486 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 2 |
| Synonyms |
Bklhd1 |
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
56754510-56774798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56757008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 243
(S243P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114321]
[ENSMUST00000114323]
|
| AlphaFold |
G3X9X1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114321
AA Change: S243P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: S243P
| 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 damaging
Transcript: ENSMUST00000114323
AA Change: S243P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: S243P
| 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 |
|
| Meta Mutation Damage Score |
0.3692 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
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 |
|
R4563:Kbtbd2
|
UTSW |
6 |
56,766,264 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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'- GTCCCAACCTTATGCAAATCAG -3'
(R):5'- TCATAGACATCCTCAGCAGCG -3'
Sequencing Primer
(F):5'- CCTTATGCAAATCAGCGGGTG -3'
(R):5'- TCAGCAGCGACAACTTAAATGTAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation