Incidental Mutation 'R6693:Klhl25'
| ID |
528170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl25
|
| Ensembl Gene |
ENSMUSG00000055652 |
| Gene Name |
kelch-like 25 |
| Synonyms |
2810402K13Rik |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.234)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75498086-75523881 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75516561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 184
(V184A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092073]
[ENSMUST00000171155]
[ENSMUST00000205612]
[ENSMUST00000205887]
[ENSMUST00000206019]
|
| AlphaFold |
Q8R2P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092073
AA Change: V489A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000089707
Gene: ENSMUSG00000055652
AA Change: V489A
| 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: V489A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133175
Gene: ENSMUSG00000055652
AA Change: V489A
| 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 |
possibly damaging
Transcript: ENSMUST00000205612
AA Change: V184A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205887
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206019
AA Change: V489A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206418
|
| Meta Mutation Damage Score |
0.1905 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
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 |
|
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 |
|
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'- AGAGACGGTGTCAGCAATGC -3'
(R):5'- GTGTCTGAAGTAGGGTCATAGCAG -3'
Sequencing Primer
(F):5'- CTGCAGTGGTGAGTGCCAAG -3'
(R):5'- GTCATAGCAGTCCAGGGTCTTACAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation