Incidental Mutation 'R1160:Klhl5'
| ID |
100307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl5
|
| Ensembl Gene |
ENSMUSG00000054920 |
| Gene Name |
kelch-like 5 |
| Synonyms |
1300013C10Rik |
| MMRRC Submission |
039233-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65298683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 154
(N154S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
| AlphaFold |
Q6PFE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101191
AA Change: N154S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: N154S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
137 |
N/A |
INTRINSIC |
|
BTB
|
173 |
270 |
1.5e-28 |
SMART |
|
BACK
|
275 |
376 |
7.85e-36 |
SMART |
|
Kelch
|
421 |
467 |
1.12e-11 |
SMART |
|
Kelch
|
468 |
514 |
3.2e-16 |
SMART |
|
Kelch
|
515 |
561 |
1.51e-12 |
SMART |
|
Kelch
|
562 |
608 |
4.6e-17 |
SMART |
|
Kelch
|
609 |
661 |
2.84e-8 |
SMART |
|
Kelch
|
662 |
708 |
1.83e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204097
AA Change: N14S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: N14S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.5e-28 |
SMART |
|
BACK
|
135 |
236 |
7.85e-36 |
SMART |
|
Kelch
|
281 |
327 |
1.12e-11 |
SMART |
|
Kelch
|
328 |
374 |
3.2e-16 |
SMART |
|
Kelch
|
375 |
421 |
1.51e-12 |
SMART |
|
Kelch
|
422 |
468 |
4.6e-17 |
SMART |
|
Kelch
|
469 |
521 |
2.84e-8 |
SMART |
|
Kelch
|
522 |
568 |
1.83e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204348
|
| SMART Domains |
Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
111 |
209 |
1.32e-15 |
SMART |
|
BACK
|
214 |
315 |
7.85e-36 |
SMART |
|
Kelch
|
360 |
406 |
1.12e-11 |
SMART |
|
Kelch
|
407 |
453 |
3.2e-16 |
SMART |
|
Kelch
|
454 |
500 |
1.51e-12 |
SMART |
|
Kelch
|
501 |
547 |
4.6e-17 |
SMART |
|
Kelch
|
548 |
600 |
2.84e-8 |
SMART |
|
Kelch
|
601 |
647 |
1.83e-11 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
| Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
| Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
| Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,505 (GRCm39) |
F237S |
probably damaging |
Het |
| Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
| Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
| Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
| Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
| Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
| Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
| Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
probably damaging |
Het |
|
| Other mutations in Klhl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Klhl5
|
APN |
5 |
65,306,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02700:Klhl5
|
APN |
5 |
65,288,773 (GRCm39) |
nonsense |
probably null |
|
|
R0064:Klhl5
|
UTSW |
5 |
65,298,631 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0142:Klhl5
|
UTSW |
5 |
65,300,693 (GRCm39) |
nonsense |
probably null |
|
|
R0783:Klhl5
|
UTSW |
5 |
65,313,596 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Klhl5
|
UTSW |
5 |
65,320,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Klhl5
|
UTSW |
5 |
65,320,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1611:Klhl5
|
UTSW |
5 |
65,321,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Klhl5
|
UTSW |
5 |
65,324,330 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4880:Klhl5
|
UTSW |
5 |
65,316,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Klhl5
|
UTSW |
5 |
65,310,033 (GRCm39) |
intron |
probably benign |
|
|
R5204:Klhl5
|
UTSW |
5 |
65,288,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5389:Klhl5
|
UTSW |
5 |
65,298,625 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5921:Klhl5
|
UTSW |
5 |
65,320,299 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6769:Klhl5
|
UTSW |
5 |
65,321,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Klhl5
|
UTSW |
5 |
65,321,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7008:Klhl5
|
UTSW |
5 |
65,300,592 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7214:Klhl5
|
UTSW |
5 |
65,289,098 (GRCm39) |
missense |
probably benign |
|
|
R7227:Klhl5
|
UTSW |
5 |
65,298,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Klhl5
|
UTSW |
5 |
65,318,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Klhl5
|
UTSW |
5 |
65,305,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7796:Klhl5
|
UTSW |
5 |
65,321,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Klhl5
|
UTSW |
5 |
65,320,268 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8108:Klhl5
|
UTSW |
5 |
65,305,930 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8185:Klhl5
|
UTSW |
5 |
65,313,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8424:Klhl5
|
UTSW |
5 |
65,320,305 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8691:Klhl5
|
UTSW |
5 |
65,306,881 (GRCm39) |
intron |
probably benign |
|
|
R8818:Klhl5
|
UTSW |
5 |
65,305,989 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9233:Klhl5
|
UTSW |
5 |
65,300,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9456:Klhl5
|
UTSW |
5 |
65,305,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9528:Klhl5
|
UTSW |
5 |
65,313,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9688:Klhl5
|
UTSW |
5 |
65,321,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9744:Klhl5
|
UTSW |
5 |
65,320,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Klhl5
|
UTSW |
5 |
65,320,264 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation