Incidental Mutation 'R0782:Kbtbd8'
| ID |
76683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd8
|
| Ensembl Gene |
ENSMUSG00000030031 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 8 |
| Synonyms |
SSEC-51, SSEC51, Takrp, SSEC 51 |
| MMRRC Submission |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
95094861-95106774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95099213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 164
(R164C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032107]
[ENSMUST00000119582]
[ENSMUST00000122938]
|
| AlphaFold |
Q3UQV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032107
AA Change: R241C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: R241C
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
49 |
147 |
7.37e-28 |
SMART |
|
BACK
|
152 |
254 |
1.37e-26 |
SMART |
|
Kelch
|
334 |
388 |
2.63e-3 |
SMART |
|
Kelch
|
389 |
439 |
6.13e-4 |
SMART |
|
Kelch
|
480 |
530 |
5.06e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119582
AA Change: R164C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: R164C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
5.1e-14 |
PFAM |
|
BACK
|
75 |
177 |
1.37e-26 |
SMART |
|
Kelch
|
257 |
311 |
2.63e-3 |
SMART |
|
Kelch
|
312 |
362 |
6.13e-4 |
SMART |
|
Blast:Kelch
|
364 |
402 |
4e-18 |
BLAST |
|
Kelch
|
403 |
453 |
5.06e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122938
|
| SMART Domains |
Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
65 |
142 |
1.4e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145387
|
| Meta Mutation Damage Score |
0.9682 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,177 (GRCm39) |
I308V |
probably benign |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
Het |
|
| Other mutations in Kbtbd8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Kbtbd8
|
APN |
6 |
95,103,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01382:Kbtbd8
|
APN |
6 |
95,099,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Kbtbd8
|
APN |
6 |
95,099,789 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01656:Kbtbd8
|
APN |
6 |
95,095,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02100:Kbtbd8
|
APN |
6 |
95,099,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02133:Kbtbd8
|
APN |
6 |
95,098,713 (GRCm39) |
splice site |
probably benign |
|
|
IGL02532:Kbtbd8
|
APN |
6 |
95,103,517 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02982:Kbtbd8
|
APN |
6 |
95,103,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03074:Kbtbd8
|
APN |
6 |
95,099,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2075:Kbtbd8
|
UTSW |
6 |
95,103,664 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2329:Kbtbd8
|
UTSW |
6 |
95,103,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Kbtbd8
|
UTSW |
6 |
95,103,570 (GRCm39) |
nonsense |
probably null |
|
|
R3906:Kbtbd8
|
UTSW |
6 |
95,103,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Kbtbd8
|
UTSW |
6 |
95,103,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4915:Kbtbd8
|
UTSW |
6 |
95,103,515 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5141:Kbtbd8
|
UTSW |
6 |
95,098,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Kbtbd8
|
UTSW |
6 |
95,098,813 (GRCm39) |
nonsense |
probably null |
|
|
R5779:Kbtbd8
|
UTSW |
6 |
95,095,515 (GRCm39) |
missense |
probably benign |
|
|
R6645:Kbtbd8
|
UTSW |
6 |
95,103,730 (GRCm39) |
nonsense |
probably null |
|
|
R7073:Kbtbd8
|
UTSW |
6 |
95,098,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Kbtbd8
|
UTSW |
6 |
95,103,677 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7600:Kbtbd8
|
UTSW |
6 |
95,099,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Kbtbd8
|
UTSW |
6 |
95,095,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Kbtbd8
|
UTSW |
6 |
95,099,825 (GRCm39) |
nonsense |
probably null |
|
|
R9617:Kbtbd8
|
UTSW |
6 |
95,103,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9747:Kbtbd8
|
UTSW |
6 |
95,098,838 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAATGTTCAAGCCTTGTTCAC -3'
(R):5'- AGGCACTGTTTGCTTCTTTCCTGAG -3'
Sequencing Primer
(F):5'- TTCCATACAAGACCAGTGTGCTAAG -3'
(R):5'- GCTTCTTTCCTGAGTGTTTGTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation