Incidental Mutation 'IGL01686:Klhl38'
| ID |
103968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl38
|
| Ensembl Gene |
ENSMUSG00000022357 |
| Gene Name |
kelch-like 38 |
| Synonyms |
8230402K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
58177969-58187565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58186707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 7
(D7E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022985]
|
| AlphaFold |
Q8BSF5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022985
AA Change: D7E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: D7E
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
34 |
131 |
2.12e-19 |
SMART |
|
BACK
|
136 |
237 |
8.69e-29 |
SMART |
|
Kelch
|
285 |
332 |
4.52e-1 |
SMART |
|
Kelch
|
333 |
383 |
9.96e-4 |
SMART |
|
Kelch
|
384 |
431 |
1.5e-1 |
SMART |
|
Kelch
|
480 |
521 |
9.21e-8 |
SMART |
|
Kelch
|
522 |
573 |
4.17e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147638
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,548,801 (GRCm39) |
V1316A |
possibly damaging |
Het |
| Ada |
T |
G |
2: 163,572,236 (GRCm39) |
K254N |
probably benign |
Het |
| Adamts17 |
A |
G |
7: 66,490,037 (GRCm39) |
R40G |
probably benign |
Het |
| Akr1d1 |
C |
T |
6: 37,507,178 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,536,215 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,095,831 (GRCm39) |
I378F |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,796,212 (GRCm39) |
N50S |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,641,294 (GRCm39) |
S783T |
possibly damaging |
Het |
| Cmpk2 |
C |
T |
12: 26,527,177 (GRCm39) |
R389W |
probably damaging |
Het |
| Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
C |
17: 78,651,863 (GRCm39) |
L529P |
probably benign |
Het |
| Ctps1 |
A |
G |
4: 120,411,183 (GRCm39) |
S278P |
probably benign |
Het |
| Defb21 |
C |
A |
2: 152,416,821 (GRCm39) |
|
probably benign |
Het |
| Ecm1 |
T |
A |
3: 95,643,376 (GRCm39) |
N308I |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
| Gabrp |
G |
T |
11: 33,502,826 (GRCm39) |
S346* |
probably null |
Het |
| Gli2 |
C |
A |
1: 118,776,165 (GRCm39) |
C419F |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,297,180 (GRCm39) |
F514L |
probably benign |
Het |
| Hormad1 |
T |
G |
3: 95,485,580 (GRCm39) |
M256R |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,686,693 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
A |
13: 111,891,196 (GRCm39) |
T1248I |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,309,542 (GRCm39) |
V303E |
probably benign |
Het |
| Mterf4 |
A |
T |
1: 93,232,443 (GRCm39) |
L136* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,217,391 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,768,613 (GRCm39) |
D85E |
probably benign |
Het |
| Nmnat2 |
G |
T |
1: 152,952,743 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,916,497 (GRCm39) |
D476E |
probably benign |
Het |
| Or14c45 |
T |
C |
7: 86,175,986 (GRCm39) |
V7A |
probably benign |
Het |
| Or8b53 |
T |
A |
9: 38,667,550 (GRCm39) |
C189S |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,333,958 (GRCm39) |
|
probably benign |
Het |
| Prrg1 |
G |
A |
X: 77,527,388 (GRCm39) |
A47V |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,981 (GRCm39) |
I160K |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,625 (GRCm39) |
Y889C |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,956,110 (GRCm39) |
D605E |
probably benign |
Het |
|
| Other mutations in Klhl38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01545:Klhl38
|
APN |
15 |
58,185,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01978:Klhl38
|
APN |
15 |
58,178,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02227:Klhl38
|
APN |
15 |
58,186,633 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02413:Klhl38
|
APN |
15 |
58,186,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02993:Klhl38
|
APN |
15 |
58,185,851 (GRCm39) |
nonsense |
probably null |
|
|
IGL03351:Klhl38
|
APN |
15 |
58,186,726 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
enriched
|
UTSW |
15 |
58,185,809 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Klhl38
|
UTSW |
15 |
58,185,938 (GRCm39) |
missense |
probably benign |
|
|
R2259:Klhl38
|
UTSW |
15 |
58,178,374 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3813:Klhl38
|
UTSW |
15 |
58,185,953 (GRCm39) |
missense |
probably benign |
|
|
R4603:Klhl38
|
UTSW |
15 |
58,186,616 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5503:Klhl38
|
UTSW |
15 |
58,185,745 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6430:Klhl38
|
UTSW |
15 |
58,185,707 (GRCm39) |
missense |
probably benign |
|
|
R6500:Klhl38
|
UTSW |
15 |
58,185,809 (GRCm39) |
nonsense |
probably null |
|
|
R7299:Klhl38
|
UTSW |
15 |
58,186,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7301:Klhl38
|
UTSW |
15 |
58,186,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7862:Klhl38
|
UTSW |
15 |
58,178,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Klhl38
|
UTSW |
15 |
58,186,258 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8808:Klhl38
|
UTSW |
15 |
58,178,225 (GRCm39) |
makesense |
probably null |
|
|
R8867:Klhl38
|
UTSW |
15 |
58,178,435 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8968:Klhl38
|
UTSW |
15 |
58,185,500 (GRCm39) |
missense |
probably benign |
|
|
R9061:Klhl38
|
UTSW |
15 |
58,186,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9259:Klhl38
|
UTSW |
15 |
58,186,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Klhl38
|
UTSW |
15 |
58,178,332 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2014-01-21 |
Incidental Mutation