Incidental Mutation 'R9744:Klhl5'
| ID |
731969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl5
|
| Ensembl Gene |
ENSMUSG00000054920 |
| Gene Name |
kelch-like 5 |
| Synonyms |
1300013C10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R9744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65320255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 603
(V603A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000203538]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
| AlphaFold |
Q6PFE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101191
AA Change: V603A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
AA Change: V603A
| 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 |
probably damaging
Transcript: ENSMUST00000203538
AA Change: V228A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
AA Change: V228A
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
46 |
92 |
3.7e-14 |
SMART |
|
Kelch
|
93 |
139 |
1.1e-18 |
SMART |
|
Kelch
|
140 |
186 |
5.1e-15 |
SMART |
|
Kelch
|
187 |
233 |
1.5e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204097
AA Change: V463A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144976
Gene: ENSMUSG00000054920
AA Change: V463A
| 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 |
unknown
Transcript: ENSMUST00000204348
AA Change: V542A
|
| SMART Domains |
Protein: ENSMUSP00000144732
Gene: ENSMUSG00000054920
AA Change: V542A
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,742,583 (GRCm39) |
M677L |
probably benign |
Het |
| Ankrd24 |
T |
G |
10: 81,482,951 (GRCm39) |
D966E |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,094,261 (GRCm39) |
L961P |
probably damaging |
Het |
| Atxn1 |
G |
A |
13: 45,721,299 (GRCm39) |
Q199* |
probably null |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,341 (GRCm39) |
V40I |
probably benign |
Het |
| Cep41 |
A |
G |
6: 30,656,603 (GRCm39) |
V283A |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,033,491 (GRCm39) |
Y311H |
probably damaging |
Het |
| Ciz1 |
A |
T |
2: 32,253,859 (GRCm39) |
Q13L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,268 (GRCm39) |
S155P |
|
Het |
| Dmbx1 |
T |
A |
4: 115,777,262 (GRCm39) |
E200D |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,720,360 (GRCm39) |
Y747C |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gys2 |
A |
C |
6: 142,394,187 (GRCm39) |
D450E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,623,941 (GRCm39) |
I1120N |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,318,605 (GRCm39) |
T210K |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,256,221 (GRCm39) |
Y896H |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,056,402 (GRCm39) |
D206G |
probably benign |
Het |
| Klhl10 |
T |
A |
11: 100,336,396 (GRCm39) |
C128S |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,869,912 (GRCm39) |
I344N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,715,711 (GRCm39) |
F1993L |
possibly damaging |
Het |
| Myo1c |
T |
C |
11: 75,562,797 (GRCm39) |
L959P |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,715,240 (GRCm39) |
Q492R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,796,987 (GRCm39) |
L951F |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,120,902 (GRCm39) |
S705R |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,267,266 (GRCm39) |
Y787C |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,201,182 (GRCm39) |
T189A |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,209,510 (GRCm39) |
Y1606H |
probably damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,827 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,664 (GRCm39) |
R226L |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,210 (GRCm39) |
I34L |
probably benign |
Het |
| Pitx2 |
A |
T |
3: 129,009,467 (GRCm39) |
T129S |
probably damaging |
Het |
| Pla2g2c |
T |
C |
4: 138,470,972 (GRCm39) |
S118P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,372 (GRCm39) |
N396S |
probably benign |
Het |
| Prl |
A |
T |
13: 27,248,338 (GRCm39) |
Q135L |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,505,733 (GRCm39) |
L2555P |
possibly damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,495 (GRCm39) |
D335V |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,765,294 (GRCm39) |
|
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,137,913 (GRCm39) |
S52T |
unknown |
Het |
| Skint6 |
C |
T |
4: 112,666,360 (GRCm39) |
G1155D |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,215,275 (GRCm39) |
R655C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,274,184 (GRCm39) |
C1867R |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,726 (GRCm39) |
D26G |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,840,678 (GRCm39) |
P418L |
probably damaging |
Het |
| Tob1 |
C |
T |
11: 94,105,054 (GRCm39) |
R197C |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,848 (GRCm39) |
V607A |
probably damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,284 (GRCm39) |
S850P |
possibly 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 |
|
|
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 |
|
X0009:Klhl5
|
UTSW |
5 |
65,320,264 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTAAAGTCAGCGAACTGTCACAG -3'
(R):5'- TGGAGACCACACTGATGGAC -3'
Sequencing Primer
(F):5'- GTCACAGCAATAGCCTGTTG -3'
(R):5'- GATGGACACTCACTAGTCTTATGAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation