Incidental Mutation 'IGL03204:Klhl40'
ID |
413096 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl40
|
Ensembl Gene |
ENSMUSG00000074001 |
Gene Name |
kelch-like 40 |
Synonyms |
2310024D23Rik, Kbtbd5 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
IGL03204
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121611696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 570
(T570S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035110]
[ENSMUST00000098272]
[ENSMUST00000163981]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035110
|
SMART Domains |
Protein: ENSMUSP00000035110 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
63 |
448 |
2.7e-15 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098272
AA Change: T570S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095873 Gene: ENSMUSG00000074001 AA Change: T570S
Domain | Start | End | E-Value | Type |
BTB
|
33 |
128 |
4.61e-29 |
SMART |
BACK
|
133 |
239 |
9.46e-30 |
SMART |
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
Blast:BTB
|
300 |
355 |
2e-27 |
BLAST |
Kelch
|
360 |
412 |
1.77e0 |
SMART |
Kelch
|
413 |
462 |
1.29e-2 |
SMART |
Kelch
|
463 |
510 |
4.68e-9 |
SMART |
Kelch
|
511 |
557 |
2.06e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163981
|
SMART Domains |
Protein: ENSMUSP00000131971 Gene: ENSMUSG00000032523
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
Pfam:MBOAT
|
97 |
444 |
3.7e-16 |
PFAM |
transmembrane domain
|
460 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216358
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012] PHENOTYPE: Homozygous disruption of this gene results in postnatal growth retardation, abnormal sarcomere morphology, skeletal muscle dysfunction, and complete postnatal lethality. Homozygotes for a null allele develop a nemaline-like myopathy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14a |
A |
T |
9: 106,317,834 (GRCm39) |
F191I |
probably damaging |
Het |
Actc1 |
A |
T |
2: 113,880,011 (GRCm39) |
S201T |
possibly damaging |
Het |
Ankrd36 |
T |
A |
11: 5,534,023 (GRCm39) |
D291E |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,105,083 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
T |
A |
12: 102,774,239 (GRCm39) |
R510* |
probably null |
Het |
Cfap20dc |
A |
G |
14: 8,644,436 (GRCm38) |
I80T |
possibly damaging |
Het |
Eif4a3 |
A |
T |
11: 119,184,442 (GRCm39) |
D249E |
possibly damaging |
Het |
Elovl6 |
A |
G |
3: 129,426,993 (GRCm39) |
M220V |
probably benign |
Het |
Ets1 |
C |
T |
9: 32,644,308 (GRCm39) |
S156L |
possibly damaging |
Het |
Gja8 |
C |
T |
3: 96,827,408 (GRCm39) |
V85I |
probably damaging |
Het |
Glipr2 |
T |
A |
4: 43,970,507 (GRCm39) |
D7E |
probably benign |
Het |
Il22 |
C |
T |
10: 118,041,085 (GRCm39) |
|
probably benign |
Het |
Itln1 |
A |
G |
1: 171,358,172 (GRCm39) |
V80A |
probably damaging |
Het |
Kdr |
A |
T |
5: 76,133,042 (GRCm39) |
C79S |
possibly damaging |
Het |
Kif26a |
A |
T |
12: 112,141,213 (GRCm39) |
H672L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,249,070 (GRCm39) |
|
probably benign |
Het |
Magi3 |
T |
A |
3: 104,013,151 (GRCm39) |
N112I |
probably damaging |
Het |
Moxd2 |
T |
C |
6: 40,864,239 (GRCm39) |
T64A |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,141,122 (GRCm39) |
V728A |
possibly damaging |
Het |
Or8u10 |
G |
T |
2: 85,916,015 (GRCm39) |
Y35* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,587,665 (GRCm39) |
I2517V |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
Smg9 |
A |
G |
7: 24,120,337 (GRCm39) |
E437G |
probably benign |
Het |
Snx4 |
A |
G |
16: 33,090,039 (GRCm39) |
K188R |
probably benign |
Het |
Sox14 |
A |
G |
9: 99,757,110 (GRCm39) |
S210P |
probably benign |
Het |
Spata1 |
A |
G |
3: 146,194,434 (GRCm39) |
F77L |
probably benign |
Het |
Spata18 |
G |
T |
5: 73,828,449 (GRCm39) |
|
probably benign |
Het |
Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,212,002 (GRCm39) |
H356R |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,080,785 (GRCm39) |
D1380G |
possibly damaging |
Het |
|
Other mutations in Klhl40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01391:Klhl40
|
APN |
9 |
121,607,983 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02123:Klhl40
|
APN |
9 |
121,608,989 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03059:Klhl40
|
APN |
9 |
121,607,203 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Klhl40
|
APN |
9 |
121,609,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03366:Klhl40
|
APN |
9 |
121,612,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R0506:Klhl40
|
UTSW |
9 |
121,607,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R1735:Klhl40
|
UTSW |
9 |
121,609,004 (GRCm39) |
missense |
probably benign |
0.00 |
R2430:Klhl40
|
UTSW |
9 |
121,609,667 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3685:Klhl40
|
UTSW |
9 |
121,611,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Klhl40
|
UTSW |
9 |
121,609,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3929:Klhl40
|
UTSW |
9 |
121,609,742 (GRCm39) |
missense |
probably benign |
|
R4326:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4328:Klhl40
|
UTSW |
9 |
121,607,956 (GRCm39) |
missense |
probably benign |
0.37 |
R4664:Klhl40
|
UTSW |
9 |
121,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R4697:Klhl40
|
UTSW |
9 |
121,607,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R5228:Klhl40
|
UTSW |
9 |
121,606,867 (GRCm39) |
missense |
probably benign |
0.02 |
R6198:Klhl40
|
UTSW |
9 |
121,607,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Klhl40
|
UTSW |
9 |
121,607,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7992:Klhl40
|
UTSW |
9 |
121,607,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Klhl40
|
UTSW |
9 |
121,607,623 (GRCm39) |
missense |
probably benign |
0.14 |
R8544:Klhl40
|
UTSW |
9 |
121,607,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R8669:Klhl40
|
UTSW |
9 |
121,607,088 (GRCm39) |
missense |
probably benign |
0.01 |
R8838:Klhl40
|
UTSW |
9 |
121,609,107 (GRCm39) |
missense |
probably benign |
|
R9239:Klhl40
|
UTSW |
9 |
121,607,637 (GRCm39) |
missense |
probably benign |
0.06 |
R9261:Klhl40
|
UTSW |
9 |
121,609,002 (GRCm39) |
missense |
probably benign |
|
R9402:Klhl40
|
UTSW |
9 |
121,609,482 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9650:Klhl40
|
UTSW |
9 |
121,609,083 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9671:Klhl40
|
UTSW |
9 |
121,607,743 (GRCm39) |
missense |
probably benign |
|
Z1177:Klhl40
|
UTSW |
9 |
121,609,759 (GRCm39) |
missense |
probably benign |
0.20 |
|
Posted On |
2016-08-02 |