Incidental Mutation 'IGL01068:Klhl25'
ID |
51444 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl25
|
Ensembl Gene |
ENSMUSG00000055652 |
Gene Name |
kelch-like 25 |
Synonyms |
2810402K13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
IGL01068
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
75498086-75523881 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 75515897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 268
(E268*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092073]
[ENSMUST00000171155]
[ENSMUST00000205612]
[ENSMUST00000205887]
[ENSMUST00000206019]
|
AlphaFold |
Q8R2P1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000092073
AA Change: E268*
|
SMART Domains |
Protein: ENSMUSP00000089707 Gene: ENSMUSG00000055652 AA Change: E268*
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 null
Transcript: ENSMUST00000171155
AA Change: E268*
|
SMART Domains |
Protein: ENSMUSP00000133175 Gene: ENSMUSG00000055652 AA Change: E268*
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 null
Transcript: ENSMUST00000206019
AA Change: E268*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206418
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
C |
7: 43,153,599 (GRCm39) |
|
probably benign |
Het |
Adgra1 |
A |
G |
7: 139,425,541 (GRCm39) |
E18G |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,702,546 (GRCm39) |
S269L |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,824,680 (GRCm39) |
V853A |
probably benign |
Het |
Bicral |
T |
C |
17: 47,136,317 (GRCm39) |
I298V |
probably damaging |
Het |
Cad |
A |
G |
5: 31,219,114 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
T |
8: 91,768,744 (GRCm39) |
Y2448F |
probably benign |
Het |
Clstn3 |
A |
G |
6: 124,439,098 (GRCm39) |
L16S |
probably damaging |
Het |
Cmtr2 |
G |
A |
8: 110,949,501 (GRCm39) |
V604M |
possibly damaging |
Het |
Ctcf |
A |
T |
8: 106,408,117 (GRCm39) |
|
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,172,800 (GRCm39) |
I295T |
probably damaging |
Het |
Foxm1 |
G |
A |
6: 128,347,930 (GRCm39) |
R284H |
possibly damaging |
Het |
Gabra2 |
T |
C |
5: 71,119,415 (GRCm39) |
I362M |
probably benign |
Het |
Hivep1 |
C |
A |
13: 42,313,460 (GRCm39) |
P1900Q |
probably benign |
Het |
Klk1b16 |
T |
C |
7: 43,790,102 (GRCm39) |
L124P |
probably damaging |
Het |
Ltf |
A |
T |
9: 110,864,880 (GRCm39) |
|
probably null |
Het |
Mpped2 |
T |
A |
2: 106,695,091 (GRCm39) |
H248Q |
probably damaging |
Het |
Mrpl1 |
T |
A |
5: 96,371,895 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,978,428 (GRCm39) |
S429R |
probably damaging |
Het |
Myl2 |
G |
A |
5: 122,244,767 (GRCm39) |
V146I |
probably benign |
Het |
Myo10 |
T |
A |
15: 25,739,395 (GRCm39) |
I527N |
possibly damaging |
Het |
Ncoa3 |
T |
C |
2: 165,894,715 (GRCm39) |
S333P |
probably damaging |
Het |
Or1j4 |
T |
G |
2: 36,740,282 (GRCm39) |
S75A |
probably damaging |
Het |
Or4k47 |
T |
G |
2: 111,451,685 (GRCm39) |
T245P |
probably damaging |
Het |
Oxct1 |
T |
C |
15: 4,083,246 (GRCm39) |
F155S |
probably damaging |
Het |
P4ha1 |
T |
C |
10: 59,175,157 (GRCm39) |
V39A |
probably damaging |
Het |
Padi6 |
G |
T |
4: 140,458,264 (GRCm39) |
T514N |
possibly damaging |
Het |
Pgm2 |
G |
A |
5: 64,265,139 (GRCm39) |
V387I |
probably damaging |
Het |
Ppt1 |
G |
A |
4: 122,737,800 (GRCm39) |
C46Y |
probably damaging |
Het |
Rnf225 |
T |
C |
7: 12,662,827 (GRCm39) |
|
probably benign |
Het |
Rpl26 |
T |
C |
11: 68,793,224 (GRCm39) |
Y42H |
probably benign |
Het |
Rundc1 |
A |
G |
11: 101,324,968 (GRCm39) |
N558S |
probably damaging |
Het |
Sema3e |
T |
G |
5: 14,283,732 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
T |
C |
17: 81,696,371 (GRCm39) |
I888V |
probably benign |
Het |
Thsd7b |
T |
C |
1: 129,523,883 (GRCm39) |
C306R |
probably damaging |
Het |
Tmem209 |
A |
C |
6: 30,502,085 (GRCm39) |
L197R |
probably benign |
Het |
Tmem38b |
T |
G |
4: 53,849,024 (GRCm39) |
V119G |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,547 (GRCm39) |
D82G |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,763 (GRCm39) |
F2094L |
probably damaging |
Het |
Zfp638 |
C |
T |
6: 83,911,976 (GRCm39) |
R453W |
probably damaging |
Het |
|
Other mutations in Klhl25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-06-21 |