Incidental Mutation 'R9769:Klhl28'
| ID |
733402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl28
|
| Ensembl Gene |
ENSMUSG00000020948 |
| Gene Name |
kelch-like 28 |
| Synonyms |
Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R9769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
64985607-65012308 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64998330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 388
(V388A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021331]
[ENSMUST00000222508]
|
| AlphaFold |
Q9CR40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021331
AA Change: V388A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: V388A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
35 |
132 |
3.55e-30 |
SMART |
|
BACK
|
137 |
239 |
1.83e-36 |
SMART |
|
Kelch
|
284 |
331 |
3.52e-4 |
SMART |
|
Kelch
|
332 |
386 |
4.23e-7 |
SMART |
|
Kelch
|
387 |
433 |
1.99e-12 |
SMART |
|
Kelch
|
434 |
479 |
1.64e-13 |
SMART |
|
Kelch
|
480 |
526 |
5.12e-15 |
SMART |
|
Kelch
|
527 |
571 |
5.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222508
AA Change: V388A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,251,459 (GRCm39) |
C443S |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,513 (GRCm39) |
K146* |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,095,692 (GRCm39) |
I481N |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,253,793 (GRCm39) |
I677F |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,393 (GRCm39) |
Y322C |
probably damaging |
Het |
| Cenpk |
C |
T |
13: 104,381,810 (GRCm39) |
Q245* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Kel |
C |
T |
6: 41,678,990 (GRCm39) |
G158R |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,407,241 (GRCm39) |
K33E |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,528 (GRCm39) |
D79V |
possibly damaging |
Het |
| Nbeal2 |
C |
A |
9: 110,455,347 (GRCm39) |
V2549L |
probably benign |
Het |
| Ogfod3 |
T |
C |
11: 121,074,357 (GRCm39) |
T231A |
probably damaging |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or56b35 |
A |
G |
7: 104,963,933 (GRCm39) |
K241E |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,125,110 (GRCm39) |
S345P |
possibly damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,076,893 (GRCm39) |
N2I |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,164,423 (GRCm39) |
D5G |
unknown |
Het |
| Slc35f3 |
A |
G |
8: 127,121,336 (GRCm39) |
E399G |
probably damaging |
Het |
| Trim43b |
G |
A |
9: 88,967,458 (GRCm39) |
H393Y |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,912,280 (GRCm39) |
H212R |
probably damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,443 (GRCm39) |
Y360C |
probably damaging |
Het |
|
| Other mutations in Klhl28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Klhl28
|
APN |
12 |
64,996,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03059:Klhl28
|
APN |
12 |
64,998,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03246:Klhl28
|
APN |
12 |
65,004,060 (GRCm39) |
missense |
probably benign |
|
|
R0014:Klhl28
|
UTSW |
12 |
65,004,076 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0607:Klhl28
|
UTSW |
12 |
64,998,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Klhl28
|
UTSW |
12 |
64,998,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1134:Klhl28
|
UTSW |
12 |
64,998,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Klhl28
|
UTSW |
12 |
65,003,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Klhl28
|
UTSW |
12 |
64,998,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Klhl28
|
UTSW |
12 |
64,990,246 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3832:Klhl28
|
UTSW |
12 |
64,998,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Klhl28
|
UTSW |
12 |
65,004,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Klhl28
|
UTSW |
12 |
64,996,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Klhl28
|
UTSW |
12 |
65,004,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Klhl28
|
UTSW |
12 |
65,004,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4872:Klhl28
|
UTSW |
12 |
65,003,896 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5007:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5008:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5010:Klhl28
|
UTSW |
12 |
65,004,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5068:Klhl28
|
UTSW |
12 |
65,004,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5070:Klhl28
|
UTSW |
12 |
65,004,486 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6666:Klhl28
|
UTSW |
12 |
64,990,301 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7812:Klhl28
|
UTSW |
12 |
64,990,363 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7951:Klhl28
|
UTSW |
12 |
65,003,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Klhl28
|
UTSW |
12 |
64,998,431 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8411:Klhl28
|
UTSW |
12 |
64,996,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8526:Klhl28
|
UTSW |
12 |
64,998,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9103:Klhl28
|
UTSW |
12 |
64,990,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9789:Klhl28
|
UTSW |
12 |
64,996,871 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCTGTTCATGTGAGCGG -3'
(R):5'- GGTCTGGCGCCCTTAAATATTCC -3'
Sequencing Primer
(F):5'- TCATGTGAGCGGGGCCATAG -3'
(R):5'- CCTCGCTATGAATTCGGAATATGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation