Incidental Mutation 'IGL01391:Klhl40'
| ID |
79203 |
| 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 # |
IGL01391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
121606673-121612884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121607983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 381
(Y381C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098272]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098272
AA Change: Y381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095873
Gene: ENSMUSG00000074001
AA Change: Y381C
| 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 |
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
T |
A |
8: 23,289,663 (GRCm39) |
I147F |
probably benign |
Het |
| Areg |
T |
A |
5: 91,288,954 (GRCm39) |
S87T |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,369,133 (GRCm39) |
|
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,156 (GRCm39) |
R8G |
probably benign |
Het |
| Brms1 |
A |
G |
19: 5,096,723 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,505 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,784,433 (GRCm39) |
M258K |
possibly damaging |
Het |
| Epb41l4a |
T |
G |
18: 33,934,678 (GRCm39) |
D562A |
possibly damaging |
Het |
| Etaa1 |
G |
A |
11: 17,896,005 (GRCm39) |
T704I |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,878,376 (GRCm39) |
H972L |
probably damaging |
Het |
| Foxn1 |
A |
G |
11: 78,252,320 (GRCm39) |
M356T |
probably damaging |
Het |
| Gfral |
C |
A |
9: 76,072,107 (GRCm39) |
G388* |
probably null |
Het |
| Gm12258 |
A |
G |
11: 58,739,520 (GRCm39) |
T3A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,311 (GRCm39) |
N7S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,881,746 (GRCm39) |
L765P |
probably damaging |
Het |
| Jchain |
C |
T |
5: 88,669,383 (GRCm39) |
C90Y |
probably damaging |
Het |
| Lhx6 |
A |
T |
2: 35,993,477 (GRCm39) |
C74S |
probably benign |
Het |
| Magel2 |
A |
G |
7: 62,030,632 (GRCm39) |
S1179G |
unknown |
Het |
| Mapre3 |
T |
C |
5: 31,022,241 (GRCm39) |
I236T |
probably damaging |
Het |
| Mcf2l |
A |
T |
8: 13,064,010 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,219,323 (GRCm39) |
H374Q |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,565,113 (GRCm39) |
Y187C |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,108,689 (GRCm39) |
M1368I |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,208 (GRCm39) |
I220N |
possibly damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,826 (GRCm39) |
I92V |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,842,394 (GRCm39) |
Y1501H |
probably damaging |
Het |
| Pigb |
T |
C |
9: 72,929,573 (GRCm39) |
T337A |
probably damaging |
Het |
| Pls1 |
T |
C |
9: 95,655,751 (GRCm39) |
K334E |
probably benign |
Het |
| Pramel51 |
C |
T |
12: 88,145,225 (GRCm39) |
V34I |
possibly damaging |
Het |
| Rab3b |
T |
C |
4: 108,797,999 (GRCm39) |
C226R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,571,571 (GRCm39) |
I4889N |
possibly damaging |
Het |
| Serpinb1a |
G |
A |
13: 33,029,398 (GRCm39) |
S210L |
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,849,522 (GRCm39) |
I390V |
probably benign |
Het |
| Slc6a7 |
C |
A |
18: 61,136,382 (GRCm39) |
A340S |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,615 (GRCm39) |
Y379C |
probably damaging |
Het |
| Tex261 |
A |
G |
6: 83,748,222 (GRCm39) |
V180A |
probably benign |
Het |
| Tnnt1 |
C |
T |
7: 4,517,211 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,798,847 (GRCm39) |
T476A |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,852,288 (GRCm39) |
S891P |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,627 (GRCm39) |
D611E |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,819 (GRCm39) |
T32A |
probably benign |
Het |
| Vwde |
T |
G |
6: 13,190,526 (GRCm39) |
S522R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,054,105 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
G |
T |
5: 37,128,907 (GRCm39) |
Q288K |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,618,699 (GRCm39) |
V120A |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,208,192 (GRCm39) |
F43S |
probably damaging |
Het |
| Znhit3 |
A |
T |
11: 84,802,283 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klhl40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03204:Klhl40
|
APN |
9 |
121,611,696 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2013-11-05 |
Incidental Mutation