Incidental Mutation 'R2762:Klhl36'
ID |
254102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl36
|
Ensembl Gene |
ENSMUSG00000031828 |
Gene Name |
kelch-like 36 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.804)
|
Stock # |
R2762 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
120589005-120603734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120596713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 138
(L138Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034287]
|
AlphaFold |
Q8R124 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034287
AA Change: L138Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034287 Gene: ENSMUSG00000031828 AA Change: L138Q
Domain | Start | End | E-Value | Type |
BTB
|
45 |
142 |
2.05e-26 |
SMART |
BACK
|
147 |
249 |
1.76e-15 |
SMART |
Kelch
|
294 |
343 |
7.59e-2 |
SMART |
Kelch
|
344 |
395 |
6.67e-5 |
SMART |
Kelch
|
396 |
442 |
2.86e-4 |
SMART |
Kelch
|
443 |
491 |
2.86e-4 |
SMART |
Kelch
|
492 |
544 |
2.23e-1 |
SMART |
Kelch
|
545 |
593 |
1.81e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212636
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212970
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
T |
A |
12: 112,748,984 (GRCm39) |
T288S |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Baiap3 |
A |
G |
17: 25,463,549 (GRCm39) |
L909P |
probably damaging |
Het |
Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
Dusp3 |
T |
C |
11: 101,865,661 (GRCm39) |
T178A |
probably benign |
Het |
En2 |
T |
C |
5: 28,375,419 (GRCm39) |
S321P |
probably damaging |
Het |
Ext1 |
G |
A |
15: 53,208,323 (GRCm39) |
S146L |
probably benign |
Het |
Gm9923 |
C |
A |
10: 72,145,460 (GRCm39) |
H104N |
probably benign |
Het |
Igtp |
A |
G |
11: 58,096,891 (GRCm39) |
M21V |
possibly damaging |
Het |
Irs2 |
T |
C |
8: 11,056,408 (GRCm39) |
S675G |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,749,936 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,746,433 (GRCm39) |
V35A |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,899,956 (GRCm39) |
D274G |
possibly damaging |
Het |
Plec |
C |
T |
15: 76,056,486 (GRCm39) |
G4349S |
probably damaging |
Het |
Ppip5k2 |
A |
C |
1: 97,645,234 (GRCm39) |
S1073R |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,237,451 (GRCm39) |
K77E |
possibly damaging |
Het |
Prss1 |
T |
C |
6: 41,440,215 (GRCm39) |
V184A |
possibly damaging |
Het |
Rnf111 |
T |
A |
9: 70,383,327 (GRCm39) |
H202L |
possibly damaging |
Het |
S100pbp |
G |
A |
4: 129,049,219 (GRCm39) |
R308* |
probably null |
Het |
Sgcb |
A |
T |
5: 73,793,052 (GRCm39) |
|
probably null |
Het |
Spam1 |
T |
C |
6: 24,796,642 (GRCm39) |
F198L |
possibly damaging |
Het |
Tbc1d4 |
A |
C |
14: 101,731,797 (GRCm39) |
C472G |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,514,820 (GRCm39) |
N1128S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,628,447 (GRCm39) |
R14571Q |
probably damaging |
Het |
Tubb4a |
T |
A |
17: 57,387,974 (GRCm39) |
T351S |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Wasl |
T |
C |
6: 24,619,500 (GRCm39) |
Y340C |
unknown |
Het |
|
Other mutations in Klhl36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01544:Klhl36
|
APN |
8 |
120,596,755 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02310:Klhl36
|
APN |
8 |
120,596,356 (GRCm39) |
splice site |
probably null |
|
IGL02952:Klhl36
|
APN |
8 |
120,597,223 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03027:Klhl36
|
APN |
8 |
120,603,229 (GRCm39) |
missense |
probably benign |
0.33 |
R0440:Klhl36
|
UTSW |
8 |
120,603,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R1918:Klhl36
|
UTSW |
8 |
120,603,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Klhl36
|
UTSW |
8 |
120,603,511 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4184:Klhl36
|
UTSW |
8 |
120,601,124 (GRCm39) |
missense |
probably damaging |
0.99 |
R6268:Klhl36
|
UTSW |
8 |
120,597,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R6899:Klhl36
|
UTSW |
8 |
120,596,881 (GRCm39) |
missense |
probably benign |
|
R7057:Klhl36
|
UTSW |
8 |
120,603,536 (GRCm39) |
missense |
probably benign |
0.01 |
R7152:Klhl36
|
UTSW |
8 |
120,596,953 (GRCm39) |
missense |
probably benign |
0.13 |
R7431:Klhl36
|
UTSW |
8 |
120,597,121 (GRCm39) |
missense |
probably benign |
0.00 |
R7438:Klhl36
|
UTSW |
8 |
120,596,914 (GRCm39) |
nonsense |
probably null |
|
R7751:Klhl36
|
UTSW |
8 |
120,596,397 (GRCm39) |
missense |
probably benign |
0.08 |
R7883:Klhl36
|
UTSW |
8 |
120,601,217 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8897:Klhl36
|
UTSW |
8 |
120,597,279 (GRCm39) |
missense |
probably benign |
0.29 |
R8969:Klhl36
|
UTSW |
8 |
120,596,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Klhl36
|
UTSW |
8 |
120,591,808 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9776:Klhl36
|
UTSW |
8 |
120,601,129 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGCGACTACTTCAACTCC -3'
(R):5'- CACTGCTCAGGTAGACACAC -3'
Sequencing Primer
(F):5'- ATGTTCACACTGGGCATGC -3'
(R):5'- TCAGGTAGACACACAGCTTCTG -3'
|
Posted On |
2014-12-04 |