Incidental Mutation 'R2909:Kbtbd7'
| ID |
261153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd7
|
| Ensembl Gene |
ENSMUSG00000043881 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 7 |
| Synonyms |
1110008P08Rik, LOC211255 |
| MMRRC Submission |
040496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R2909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79663951-79668476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79665922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 585
(T585A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022600]
[ENSMUST00000061222]
|
| AlphaFold |
G5E8C2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022600
|
| SMART Domains |
Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
|
PCRF
|
139 |
255 |
5.96e-27 |
SMART |
|
Pfam:RF-1
|
290 |
400 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061222
AA Change: T585A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
AA Change: T585A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
11 |
44 |
2e-11 |
BLAST |
|
BTB
|
63 |
168 |
1.05e-23 |
SMART |
|
BACK
|
173 |
279 |
1.41e-19 |
SMART |
|
low complexity region
|
317 |
340 |
N/A |
INTRINSIC |
|
Pfam:Kelch_1
|
434 |
481 |
1.7e-9 |
PFAM |
|
low complexity region
|
657 |
676 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
G |
A |
2: 158,467,140 (GRCm39) |
G27R |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,002,102 (GRCm39) |
D1349G |
probably damaging |
Het |
| Chrm3 |
G |
T |
13: 9,928,033 (GRCm39) |
D334E |
probably benign |
Het |
| Clic5 |
A |
C |
17: 44,586,146 (GRCm39) |
T212P |
probably benign |
Het |
| Dapk1 |
G |
A |
13: 60,864,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,049,114 (GRCm39) |
L3262H |
probably damaging |
Het |
| Epg5 |
G |
C |
18: 78,026,691 (GRCm39) |
W1227C |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,171,630 (GRCm39) |
S1757P |
probably damaging |
Het |
| Gm3604 |
G |
C |
13: 62,516,832 (GRCm39) |
H509D |
probably benign |
Het |
| Gramd4 |
G |
T |
15: 86,006,384 (GRCm39) |
E163* |
probably null |
Het |
| Hip1r |
T |
A |
5: 124,138,656 (GRCm39) |
|
probably null |
Het |
| Ice1 |
G |
T |
13: 70,744,292 (GRCm39) |
T2097K |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,897,085 (GRCm39) |
T272A |
possibly damaging |
Het |
| Ly6l |
T |
G |
15: 75,321,481 (GRCm39) |
|
probably null |
Het |
| Minar1 |
T |
C |
9: 89,473,331 (GRCm39) |
N860S |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,438,497 (GRCm39) |
A83E |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,556,007 (GRCm39) |
I156V |
possibly damaging |
Het |
| Plbd1 |
A |
T |
6: 136,611,572 (GRCm39) |
V235D |
probably damaging |
Het |
| Pml |
T |
C |
9: 58,154,526 (GRCm39) |
S76G |
possibly damaging |
Het |
| Ppp1r42 |
T |
A |
1: 10,073,637 (GRCm39) |
|
probably benign |
Het |
| Rsl24d1 |
T |
C |
9: 73,029,585 (GRCm39) |
L61S |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,235 (GRCm39) |
E132G |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,870,715 (GRCm39) |
I23V |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,234,811 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,330,463 (GRCm39) |
I81V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 37,028,548 (GRCm39) |
T505M |
possibly damaging |
Het |
| Tmem40 |
A |
G |
6: 115,713,342 (GRCm39) |
|
probably null |
Het |
| Tnfrsf18 |
A |
T |
4: 156,112,727 (GRCm39) |
N138Y |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,865 (GRCm39) |
N240K |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,661 (GRCm39) |
E776G |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,405,377 (GRCm39) |
N840K |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,664 (GRCm39) |
I499T |
probably damaging |
Het |
|
| Other mutations in Kbtbd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Kbtbd7
|
APN |
14 |
79,666,052 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01364:Kbtbd7
|
APN |
14 |
79,665,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0973:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0973:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0974:Kbtbd7
|
UTSW |
14 |
79,664,870 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1236:Kbtbd7
|
UTSW |
14 |
79,665,272 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4731:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
|
R4732:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
|
R4733:Kbtbd7
|
UTSW |
14 |
79,666,240 (GRCm39) |
makesense |
probably null |
|
|
R4984:Kbtbd7
|
UTSW |
14 |
79,664,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Kbtbd7
|
UTSW |
14 |
79,666,205 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6699:Kbtbd7
|
UTSW |
14 |
79,665,632 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7122:Kbtbd7
|
UTSW |
14 |
79,665,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7176:Kbtbd7
|
UTSW |
14 |
79,665,194 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7457:Kbtbd7
|
UTSW |
14 |
79,665,364 (GRCm39) |
frame shift |
probably null |
|
|
R7875:Kbtbd7
|
UTSW |
14 |
79,664,806 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8041:Kbtbd7
|
UTSW |
14 |
79,666,144 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9435:Kbtbd7
|
UTSW |
14 |
79,664,944 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAGTGACTTTCAAGAAGCC -3'
(R):5'- CCATTCAGTGCTAGACTCACTC -3'
Sequencing Primer
(F):5'- GACTTTCAAGAAGCCTGTGTC -3'
(R):5'- GCATCATCTTCCTCAGTGATGAAAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation