Incidental Mutation 'R3720:Kbtbd11'
| ID |
258857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kbtbd11
|
| Ensembl Gene |
ENSMUSG00000055675 |
| Gene Name |
kelch repeat and BTB (POZ) domain containing 11 |
| Synonyms |
4930465M17Rik, 2900016B01Rik |
| MMRRC Submission |
040711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3720 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
15061025-15083333 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 15079118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 572
(C572*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069399]
[ENSMUST00000183471]
|
| AlphaFold |
Q8BNW9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069399
AA Change: C572*
|
| SMART Domains |
Protein: ENSMUSP00000068321
Gene: ENSMUSG00000055675
AA Change: C572*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
114 |
N/A |
INTRINSIC |
|
BTB
|
146 |
237 |
1.74e-15 |
SMART |
|
low complexity region
|
289 |
311 |
N/A |
INTRINSIC |
|
Blast:BTB
|
318 |
358 |
2e-16 |
BLAST |
|
Kelch
|
366 |
418 |
5.26e-3 |
SMART |
|
Kelch
|
419 |
463 |
4.65e-4 |
SMART |
|
Kelch
|
464 |
506 |
1.71e-1 |
SMART |
|
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183471
AA Change: C572*
|
| SMART Domains |
Protein: ENSMUSP00000139292
Gene: ENSMUSG00000055675
AA Change: C572*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
114 |
N/A |
INTRINSIC |
|
BTB
|
146 |
237 |
1.74e-15 |
SMART |
|
low complexity region
|
289 |
311 |
N/A |
INTRINSIC |
|
Blast:BTB
|
318 |
358 |
2e-16 |
BLAST |
|
Kelch
|
366 |
418 |
5.26e-3 |
SMART |
|
Kelch
|
419 |
463 |
4.65e-4 |
SMART |
|
Kelch
|
464 |
506 |
1.71e-1 |
SMART |
|
low complexity region
|
524 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192473
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
93% (40/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl1 |
G |
A |
14: 26,649,801 (GRCm39) |
T575M |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,300,175 (GRCm39) |
M708K |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,512,600 (GRCm39) |
T241A |
possibly damaging |
Het |
| Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
| Cd47 |
A |
G |
16: 49,688,205 (GRCm39) |
I42V |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,637,197 (GRCm39) |
S1025P |
probably benign |
Het |
| Col8a1 |
T |
C |
16: 57,447,279 (GRCm39) |
M744V |
unknown |
Het |
| Cstf3 |
A |
G |
2: 104,483,431 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Glt6d1 |
ACCC |
ACCCC |
2: 25,685,179 (GRCm39) |
|
probably null |
Het |
| Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,077 (GRCm39) |
T1439I |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,805,036 (GRCm39) |
|
probably null |
Het |
| Kif1c |
T |
C |
11: 70,594,597 (GRCm39) |
F86L |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Ldb1 |
C |
T |
19: 46,033,331 (GRCm39) |
|
probably benign |
Het |
| Lrmda |
T |
A |
14: 22,077,399 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
C |
10: 24,767,018 (GRCm39) |
L369S |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
| Myo1b |
G |
T |
1: 51,815,505 (GRCm39) |
H614N |
possibly damaging |
Het |
| Neurl1b |
C |
T |
17: 26,633,949 (GRCm39) |
T4M |
probably damaging |
Het |
| Or10al7 |
T |
C |
17: 38,366,259 (GRCm39) |
Y66C |
probably damaging |
Het |
| Or5t15 |
T |
C |
2: 86,681,935 (GRCm39) |
T36A |
probably benign |
Het |
| Polg |
G |
A |
7: 79,106,539 (GRCm39) |
Q163* |
probably null |
Het |
| Pramel12 |
A |
G |
4: 143,145,949 (GRCm39) |
T473A |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,691,070 (GRCm39) |
P1835L |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,967,685 (GRCm39) |
I138N |
probably damaging |
Het |
| Snx31 |
T |
C |
15: 36,523,704 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
T |
1: 75,403,426 (GRCm39) |
H2590L |
probably damaging |
Het |
| Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,869,254 (GRCm39) |
E349G |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,536,028 (GRCm39) |
V766A |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,442,999 (GRCm39) |
R455W |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,931,938 (GRCm39) |
V2157E |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,985,404 (GRCm39) |
|
probably null |
Het |
| Trav18 |
C |
T |
14: 54,069,074 (GRCm39) |
R39C |
possibly damaging |
Het |
| Uroc1 |
G |
A |
6: 90,323,337 (GRCm39) |
V352M |
probably damaging |
Het |
| Zfp106 |
A |
C |
2: 120,365,080 (GRCm39) |
I442M |
probably benign |
Het |
| Zfp935 |
G |
A |
13: 62,602,846 (GRCm39) |
Q98* |
probably null |
Het |
|
| Other mutations in Kbtbd11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Kbtbd11
|
APN |
8 |
15,079,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Kbtbd11
|
APN |
8 |
15,078,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Kbtbd11
|
APN |
8 |
15,078,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Kbtbd11
|
APN |
8 |
15,077,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0152:Kbtbd11
|
UTSW |
8 |
15,077,428 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0242:Kbtbd11
|
UTSW |
8 |
15,077,508 (GRCm39) |
missense |
probably benign |
|
|
R0242:Kbtbd11
|
UTSW |
8 |
15,077,508 (GRCm39) |
missense |
probably benign |
|
|
R0453:Kbtbd11
|
UTSW |
8 |
15,077,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0498:Kbtbd11
|
UTSW |
8 |
15,077,605 (GRCm39) |
missense |
probably benign |
|
|
R0629:Kbtbd11
|
UTSW |
8 |
15,077,572 (GRCm39) |
missense |
probably benign |
|
|
R2031:Kbtbd11
|
UTSW |
8 |
15,078,021 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2214:Kbtbd11
|
UTSW |
8 |
15,079,178 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3722:Kbtbd11
|
UTSW |
8 |
15,079,118 (GRCm39) |
nonsense |
probably null |
|
|
R4355:Kbtbd11
|
UTSW |
8 |
15,078,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Kbtbd11
|
UTSW |
8 |
15,078,917 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5037:Kbtbd11
|
UTSW |
8 |
15,077,886 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5312:Kbtbd11
|
UTSW |
8 |
15,078,589 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5936:Kbtbd11
|
UTSW |
8 |
15,077,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6056:Kbtbd11
|
UTSW |
8 |
15,077,577 (GRCm39) |
missense |
probably benign |
|
|
R6272:Kbtbd11
|
UTSW |
8 |
15,079,118 (GRCm39) |
nonsense |
probably null |
|
|
R6547:Kbtbd11
|
UTSW |
8 |
15,077,641 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7126:Kbtbd11
|
UTSW |
8 |
15,078,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7359:Kbtbd11
|
UTSW |
8 |
15,078,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Kbtbd11
|
UTSW |
8 |
15,078,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Kbtbd11
|
UTSW |
8 |
15,078,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Kbtbd11
|
UTSW |
8 |
15,077,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kbtbd11
|
UTSW |
8 |
15,077,694 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACCGCCTGCTCAAGTAC -3'
(R):5'- CTCAAATGCTGGACAGTGGAG -3'
Sequencing Primer
(F):5'- GCCTGCTCAAGTACGACCC -3'
(R):5'- AGCCGATCCTGTCCTAGACTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation