Incidental Mutation 'R5204:Klhl5'
| ID |
398331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl5
|
| Ensembl Gene |
ENSMUSG00000054920 |
| Gene Name |
kelch-like 5 |
| Synonyms |
1300013C10Rik |
| MMRRC Submission |
042779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65288781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 14
(L14F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
| AlphaFold |
Q6PFE1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031089
AA Change: L14F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031089
Gene: ENSMUSG00000054920
AA Change: L14F
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101191
AA Change: L14F
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: L14F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
| 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 |
possibly damaging
Transcript: ENSMUST00000204348
AA Change: L14F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: L14F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204829
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
| Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
| Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
| Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
| Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
| Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
| Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,385 (GRCm39) |
N274S |
possibly damaging |
Het |
| Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
| Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
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 |
|
R1160:Klhl5
|
UTSW |
5 |
65,298,683 (GRCm39) |
missense |
probably benign |
0.13 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AGTGTTCCACCGCGTTCATC -3'
(R):5'- TGGACCTTCGGTAACCAATGG -3'
Sequencing Primer
(F):5'- ACCGCGTTCATCTTTATTCATTAC -3'
(R):5'- TTCGGTAACCAATGGAAGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation