Incidental Mutation 'R9528:Klhl5'
| ID |
719336 |
| 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: 0.093)
|
| Stock # |
R9528 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65264894-65325490 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 65313586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101191]
[ENSMUST00000203538]
[ENSMUST00000204097]
[ENSMUST00000204348]
|
| AlphaFold |
Q6PFE1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101191
|
| SMART Domains |
Protein: ENSMUSP00000098752
Gene: ENSMUSG00000054920
| 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 benign
Transcript: ENSMUST00000203538
|
| SMART Domains |
Protein: ENSMUSP00000145269
Gene: ENSMUSG00000054920
| 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 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
| Abi2 |
T |
C |
1: 60,473,453 (GRCm39) |
S57P |
probably damaging |
Het |
| Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
| Bpifb9b |
A |
G |
2: 154,153,297 (GRCm39) |
E121G |
probably benign |
Het |
| Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
| Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
| Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
| Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
| Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
| Lipc |
A |
T |
9: 70,841,841 (GRCm39) |
M1K |
probably null |
Het |
| Lrfn5 |
T |
A |
12: 61,886,408 (GRCm39) |
N65K |
probably benign |
Het |
| Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
| Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
| Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
| Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
| Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
| Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
| Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,316,660 (GRCm39) |
I444N |
probably benign |
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 |
|
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'- CAATGCACTTTTCCGGGATGAC -3'
(R):5'- AGCCTAAAGTAGCTAGTTACCTCTTC -3'
Sequencing Primer
(F):5'- CACTTTTCCGGGATGACATTGAATG -3'
(R):5'- ACTCACGGAGACTCTGATTTGACG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation