Incidental Mutation 'R8370:Klhl33'
| ID |
646354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl33
|
| Ensembl Gene |
ENSMUSG00000090799 |
| Gene Name |
kelch-like 33 |
| Synonyms |
EG546611 |
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
51126038-51134940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51129689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 312
(R312Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164415]
[ENSMUST00000170855]
[ENSMUST00000227271]
|
| AlphaFold |
A0A2I3BRZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164415
AA Change: R312Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: R312Q
| 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 |
probably damaging
Transcript: ENSMUST00000227271
AA Change: R572Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
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 |
|
|
R3114:Klhl33
|
UTSW |
14 |
51,128,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
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'- ATTTTGAGCCAGATAGCCTAGG -3'
(R):5'- CCACAATAGCACTCTGGCTTC -3'
Sequencing Primer
(F):5'- CTAAGATTACAGGTGTGTGCAACC -3'
(R):5'- CAACTCTCAGGTATCTGTGGCCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation