Incidental Mutation 'R1228:Klhl25'
| ID |
175032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl25
|
| Ensembl Gene |
ENSMUSG00000055652 |
| Gene Name |
kelch-like 25 |
| Synonyms |
2810402K13Rik |
| MMRRC Submission |
039297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.212)
|
| Stock # |
R1228 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
75498086-75523881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 75515868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 258
(A258V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092073]
[ENSMUST00000171155]
[ENSMUST00000205612]
[ENSMUST00000205887]
[ENSMUST00000206019]
|
| AlphaFold |
Q8R2P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092073
AA Change: A258V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: A258V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
144 |
2.43e-28 |
SMART |
|
BACK
|
149 |
251 |
1.06e-32 |
SMART |
|
Blast:BTB
|
256 |
294 |
1e-9 |
BLAST |
|
Kelch
|
296 |
340 |
1.4e0 |
SMART |
|
Kelch
|
341 |
388 |
6.71e-10 |
SMART |
|
Kelch
|
389 |
444 |
2.25e-11 |
SMART |
|
Kelch
|
445 |
492 |
1.22e-1 |
SMART |
|
Kelch
|
493 |
538 |
1.92e-5 |
SMART |
|
Kelch
|
539 |
585 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171155
AA Change: A258V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: A258V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
46 |
144 |
2.43e-28 |
SMART |
|
BACK
|
149 |
251 |
1.06e-32 |
SMART |
|
Blast:BTB
|
256 |
294 |
1e-9 |
BLAST |
|
Kelch
|
296 |
340 |
1.4e0 |
SMART |
|
Kelch
|
341 |
388 |
6.71e-10 |
SMART |
|
Kelch
|
389 |
444 |
2.25e-11 |
SMART |
|
Kelch
|
445 |
492 |
1.22e-1 |
SMART |
|
Kelch
|
493 |
538 |
1.92e-5 |
SMART |
|
Kelch
|
539 |
585 |
1.4e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205612
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206019
AA Change: A258V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206418
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
| Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
| Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
| Rpia |
T |
C |
6: 70,768,880 (GRCm39) |
N85S |
probably benign |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
| Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
| Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
| Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Klhl25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Klhl25
|
APN |
7 |
75,515,897 (GRCm39) |
nonsense |
probably null |
|
|
IGL01142:Klhl25
|
APN |
7 |
75,516,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Klhl25
|
APN |
7 |
75,515,620 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02272:Klhl25
|
APN |
7 |
75,516,368 (GRCm39) |
missense |
probably benign |
|
|
IGL02721:Klhl25
|
APN |
7 |
75,516,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Klhl25
|
UTSW |
7 |
75,515,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Klhl25
|
UTSW |
7 |
75,516,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Klhl25
|
UTSW |
7 |
75,515,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0881:Klhl25
|
UTSW |
7 |
75,516,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1061:Klhl25
|
UTSW |
7 |
75,516,268 (GRCm39) |
nonsense |
probably null |
|
|
R1696:Klhl25
|
UTSW |
7 |
75,516,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Klhl25
|
UTSW |
7 |
75,516,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4428:Klhl25
|
UTSW |
7 |
75,515,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4431:Klhl25
|
UTSW |
7 |
75,515,162 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4717:Klhl25
|
UTSW |
7 |
75,516,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Klhl25
|
UTSW |
7 |
75,516,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4860:Klhl25
|
UTSW |
7 |
75,516,798 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5619:Klhl25
|
UTSW |
7 |
75,516,602 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5637:Klhl25
|
UTSW |
7 |
75,515,540 (GRCm39) |
splice site |
probably null |
|
|
R5652:Klhl25
|
UTSW |
7 |
75,515,895 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5840:Klhl25
|
UTSW |
7 |
75,516,440 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6693:Klhl25
|
UTSW |
7 |
75,516,561 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6723:Klhl25
|
UTSW |
7 |
75,515,739 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6875:Klhl25
|
UTSW |
7 |
75,516,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Klhl25
|
UTSW |
7 |
75,516,516 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8535:Klhl25
|
UTSW |
7 |
75,515,843 (GRCm39) |
missense |
probably benign |
|
|
R8712:Klhl25
|
UTSW |
7 |
75,515,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8768:Klhl25
|
UTSW |
7 |
75,516,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Klhl25
|
UTSW |
7 |
75,516,391 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9033:Klhl25
|
UTSW |
7 |
75,516,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9046:Klhl25
|
UTSW |
7 |
75,515,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9404:Klhl25
|
UTSW |
7 |
75,515,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9480:Klhl25
|
UTSW |
7 |
75,516,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9601:Klhl25
|
UTSW |
7 |
75,515,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Klhl25
|
UTSW |
7 |
75,516,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl25
|
UTSW |
7 |
75,515,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGTTCTCATGCCGAATGTCC -3'
(R):5'- GCAACCAATCGCTGAAGCACTG -3'
Sequencing Primer
(F):5'- GTTGGACCTCATCTCCAGAG -3'
(R):5'- TGAAGCACTGAACTCCTTCCG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation