Incidental Mutation 'R3114:Klhl33'
| ID |
263945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl33
|
| Ensembl Gene |
ENSMUSG00000090799 |
| Gene Name |
kelch-like 33 |
| Synonyms |
EG546611 |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51126038-51134940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51128972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 752
(D752E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164415]
[ENSMUST00000170855]
[ENSMUST00000227271]
|
| AlphaFold |
A0A2I3BRZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164415
AA Change: D492E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: D492E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
70 |
5.7e-6 |
PFAM |
|
BACK
|
75 |
176 |
3.59e-21 |
SMART |
|
Kelch
|
273 |
322 |
5.26e-3 |
SMART |
|
Kelch
|
323 |
369 |
7.83e-11 |
SMART |
|
Kelch
|
370 |
418 |
1.46e-1 |
SMART |
|
Kelch
|
419 |
465 |
2.84e-8 |
SMART |
|
Kelch
|
466 |
514 |
6.08e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170855
|
| SMART Domains |
Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1buoa_
|
83 |
129 |
2e-3 |
SMART |
|
Blast:BTB
|
109 |
170 |
2e-18 |
BLAST |
|
SCOP:d1jkjb2
|
142 |
198 |
2e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226765
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227271
AA Change: D752E
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Klhl33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Klhl33
|
APN |
14 |
51,128,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01965:Klhl33
|
APN |
14 |
51,129,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Klhl33
|
APN |
14 |
51,130,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Klhl33
|
APN |
14 |
51,129,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Klhl33
|
UTSW |
14 |
51,128,868 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0520:Klhl33
|
UTSW |
14 |
51,129,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Klhl33
|
UTSW |
14 |
51,129,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0894:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0989:Klhl33
|
UTSW |
14 |
51,129,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Klhl33
|
UTSW |
14 |
51,130,534 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1795:Klhl33
|
UTSW |
14 |
51,129,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2088:Klhl33
|
UTSW |
14 |
51,130,230 (GRCm39) |
nonsense |
probably null |
|
|
R5650:Klhl33
|
UTSW |
14 |
51,129,285 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5851:Klhl33
|
UTSW |
14 |
51,130,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Klhl33
|
UTSW |
14 |
51,130,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6365:Klhl33
|
UTSW |
14 |
51,129,294 (GRCm39) |
missense |
probably benign |
|
|
R6434:Klhl33
|
UTSW |
14 |
51,130,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Klhl33
|
UTSW |
14 |
51,134,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6881:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6932:Klhl33
|
UTSW |
14 |
51,129,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Klhl33
|
UTSW |
14 |
51,128,973 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6998:Klhl33
|
UTSW |
14 |
51,130,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7545:Klhl33
|
UTSW |
14 |
51,130,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Klhl33
|
UTSW |
14 |
51,128,962 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8370:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8371:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Klhl33
|
UTSW |
14 |
51,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Klhl33
|
UTSW |
14 |
51,130,565 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8923:Klhl33
|
UTSW |
14 |
51,129,882 (GRCm39) |
nonsense |
probably null |
|
|
R9027:Klhl33
|
UTSW |
14 |
51,130,322 (GRCm39) |
nonsense |
probably null |
|
|
R9326:Klhl33
|
UTSW |
14 |
51,134,615 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9341:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Klhl33
|
UTSW |
14 |
51,133,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9354:Klhl33
|
UTSW |
14 |
51,130,385 (GRCm39) |
missense |
probably benign |
|
|
R9416:Klhl33
|
UTSW |
14 |
51,130,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9525:Klhl33
|
UTSW |
14 |
51,128,929 (GRCm39) |
missense |
probably null |
0.05 |
|
R9590:Klhl33
|
UTSW |
14 |
51,130,042 (GRCm39) |
missense |
probably benign |
|
|
R9657:Klhl33
|
UTSW |
14 |
51,134,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGTAAGACCGTCTTCTCC -3'
(R):5'- AACTTAAGAGGCCTGGGACG -3'
Sequencing Primer
(F):5'- GTAAGACCGTCTTCTCCTCTCATAAG -3'
(R):5'- ACGCTTCTGAGCCCAATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation