Incidental Mutation 'R4428:Klhl25'
ID |
328276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl25
|
Ensembl Gene |
ENSMUSG00000055652 |
Gene Name |
kelch-like 25 |
Synonyms |
2810402K13Rik |
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R4428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
75498086-75523881 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75515162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 23
(F23I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092073]
[ENSMUST00000171155]
[ENSMUST00000205612]
[ENSMUST00000205887]
[ENSMUST00000206019]
|
AlphaFold |
Q8R2P1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092073
AA Change: F23I
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000089707 Gene: ENSMUSG00000055652 AA Change: F23I
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: F23I
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000133175 Gene: ENSMUSG00000055652 AA Change: F23I
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 damaging
Transcript: ENSMUST00000205887
AA Change: F23I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206019
AA Change: F23I
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206418
|
Meta Mutation Damage Score |
0.5890 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhdc1 |
T |
A |
12: 69,315,000 (GRCm39) |
|
probably benign |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
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 |
|
R1228:Klhl25
|
UTSW |
7 |
75,515,868 (GRCm39) |
missense |
probably benign |
|
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 |
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'- ACCTGGAAACTGCCACAGAG -3'
(R):5'- GGAAGTTGACCGTATCATCCC -3'
Sequencing Primer
(F):5'- CTGGAAACTGCCACAGAGGAGAG -3'
(R):5'- CCGTATCATCCCGGCTTTC -3'
|
Posted On |
2015-07-07 |