Incidental Mutation 'R7600:Kbtbd8'
| ID |
587963 |
| 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 |
045642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R7600 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
95094861-95106774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95099573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 361
(Y361N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032107]
[ENSMUST00000119582]
[ENSMUST00000122938]
|
| AlphaFold |
Q3UQV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032107
AA Change: Y361N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: Y361N
| 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: Y284N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: Y284N
| 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 |
|
| Meta Mutation Damage Score |
0.9431 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,854 (GRCm39) |
V707I |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,981,938 (GRCm39) |
D1074V |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,372,315 (GRCm39) |
M495V |
probably benign |
Het |
| Atxn1 |
T |
G |
13: 45,710,536 (GRCm39) |
K799Q |
possibly damaging |
Het |
| Catsperg2 |
A |
T |
7: 29,404,283 (GRCm39) |
S831T |
probably benign |
Het |
| Cldn1 |
T |
C |
16: 26,179,669 (GRCm39) |
T133A |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,353,226 (GRCm39) |
C254R |
probably damaging |
Het |
| Cnnm2 |
A |
T |
19: 46,750,506 (GRCm39) |
T99S |
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,944,198 (GRCm39) |
D1092A |
possibly damaging |
Het |
| Dnajc9 |
A |
G |
14: 20,438,793 (GRCm39) |
L20P |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,375,691 (GRCm39) |
Q1159K |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,306,011 (GRCm39) |
T4110I |
probably damaging |
Het |
| Epb42 |
A |
G |
2: 120,852,307 (GRCm39) |
L562P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,832,295 (GRCm39) |
Y1543H |
probably damaging |
Het |
| Igkv1-117 |
T |
A |
6: 68,098,100 (GRCm39) |
V9E |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,391,575 (GRCm39) |
R2948H |
probably benign |
Het |
| Lrp10 |
G |
T |
14: 54,706,852 (GRCm39) |
R563L |
possibly damaging |
Het |
| Mllt3 |
G |
T |
4: 87,759,456 (GRCm39) |
H197Q |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,025,969 (GRCm39) |
P27L |
unknown |
Het |
| Nlrp1a |
C |
A |
11: 70,989,740 (GRCm39) |
R1110L |
probably damaging |
Het |
| Nol10 |
T |
G |
12: 17,419,481 (GRCm39) |
D257E |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,890,589 (GRCm39) |
V114A |
possibly damaging |
Het |
| Or2a57 |
C |
A |
6: 43,212,770 (GRCm39) |
T76K |
probably damaging |
Het |
| Or2t43 |
T |
C |
11: 58,458,162 (GRCm39) |
N3S |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,372,820 (GRCm39) |
D2438E |
probably damaging |
Het |
| Prl7a2 |
T |
G |
13: 27,843,264 (GRCm39) |
I180L |
possibly damaging |
Het |
| Ptch2 |
A |
T |
4: 116,953,422 (GRCm39) |
|
probably benign |
Het |
| Snrpn |
A |
G |
7: 59,638,351 (GRCm39) |
M1T |
probably null |
Het |
| Sntb1 |
A |
T |
15: 55,655,584 (GRCm39) |
W211R |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,352 (GRCm39) |
S447P |
probably benign |
Het |
| Tas2r129 |
G |
T |
6: 132,928,137 (GRCm39) |
G25* |
probably null |
Het |
| Tcstv7a |
A |
T |
13: 120,290,232 (GRCm39) |
|
probably null |
Het |
| Tle2 |
T |
G |
10: 81,422,147 (GRCm39) |
Y396* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,773,885 (GRCm39) |
K510R |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,903,458 (GRCm39) |
T1073A |
possibly damaging |
Het |
| Ttc24 |
A |
T |
3: 87,979,320 (GRCm39) |
M1K |
probably null |
Het |
| Tubgcp5 |
A |
G |
7: 55,458,261 (GRCm39) |
T391A |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,906 (GRCm39) |
E153G |
probably benign |
Het |
| Vmn1r232 |
A |
T |
17: 21,133,999 (GRCm39) |
N200K |
possibly damaging |
Het |
| Zcwpw1 |
A |
T |
5: 137,798,396 (GRCm39) |
K198* |
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,612,827 (GRCm39) |
V641A |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,695,210 (GRCm39) |
A149V |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,092 (GRCm39) |
N165S |
probably damaging |
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 |
|
R0782:Kbtbd8
|
UTSW |
6 |
95,099,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTTTGATGCTGCCCACAAAC -3'
(R):5'- AGTCATCCAGCAATTCTCTCTG -3'
Sequencing Primer
(F):5'- CAAACAGTGCCTTGTCTAGATATCG -3'
(R):5'- CAGCAATTCTCTCTGCTATCATAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation