Incidental Mutation 'IGL03237:Klhl41'
ID |
414092 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl41
|
Ensembl Gene |
ENSMUSG00000075307 |
Gene Name |
kelch-like 41 |
Synonyms |
Kbtbd10, LOC228003 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL03237
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
69500464-69514574 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69500902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074963]
[ENSMUST00000100050]
[ENSMUST00000112286]
[ENSMUST00000134659]
|
AlphaFold |
A2AUC9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074963
|
SMART Domains |
Protein: ENSMUSP00000074494 Gene: ENSMUSG00000063145
Domain | Start | End | E-Value | Type |
Pfam:DUF1448
|
7 |
339 |
6.2e-161 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100050
AA Change: V121A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097627 Gene: ENSMUSG00000075307 AA Change: V121A
Domain | Start | End | E-Value | Type |
BTB
|
33 |
130 |
8.34e-27 |
SMART |
BACK
|
135 |
237 |
9.67e-36 |
SMART |
Kelch
|
346 |
398 |
6.71e-1 |
SMART |
Kelch
|
399 |
447 |
1.56e-5 |
SMART |
Kelch
|
448 |
495 |
2.43e-7 |
SMART |
Kelch
|
496 |
542 |
5.81e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112286
|
SMART Domains |
Protein: ENSMUSP00000107905 Gene: ENSMUSG00000063145
Domain | Start | End | E-Value | Type |
Pfam:DUF1448
|
6 |
208 |
1.6e-100 |
PFAM |
Pfam:DUF1448
|
206 |
319 |
9.9e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127806
|
SMART Domains |
Protein: ENSMUSP00000121691 Gene: ENSMUSG00000063145
Domain | Start | End | E-Value | Type |
Pfam:DUF1448
|
22 |
90 |
9.9e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134659
|
SMART Domains |
Protein: ENSMUSP00000119377 Gene: ENSMUSG00000063145
Domain | Start | End | E-Value | Type |
Pfam:DUF1448
|
6 |
88 |
3.1e-36 |
PFAM |
|
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 is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015] PHENOTYPE: The gene product is involved in stabilizing proteins involved in muscle function. Homozygous knockout affects the structure of muscle fibers and their sarcomeres, resulting in neonatal death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,792 (GRCm39) |
E180G |
probably benign |
Het |
Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
Gabrg3 |
A |
T |
7: 56,632,460 (GRCm39) |
|
probably null |
Het |
Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
Kptn |
A |
T |
7: 15,854,050 (GRCm39) |
D56V |
probably damaging |
Het |
L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,250,512 (GRCm39) |
V380M |
probably damaging |
Het |
Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
Sgcz |
A |
T |
8: 38,030,332 (GRCm39) |
D170E |
probably benign |
Het |
Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
probably benign |
Het |
|
Other mutations in Klhl41 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01316:Klhl41
|
APN |
2 |
69,505,068 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01622:Klhl41
|
APN |
2 |
69,508,582 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01623:Klhl41
|
APN |
2 |
69,508,582 (GRCm39) |
missense |
probably benign |
0.05 |
R0220:Klhl41
|
UTSW |
2 |
69,500,829 (GRCm39) |
missense |
probably benign |
0.25 |
R0277:Klhl41
|
UTSW |
2 |
69,501,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R0456:Klhl41
|
UTSW |
2 |
69,500,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R0485:Klhl41
|
UTSW |
2 |
69,501,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R0536:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0537:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0552:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0553:Klhl41
|
UTSW |
2 |
69,500,554 (GRCm39) |
missense |
probably benign |
0.04 |
R0834:Klhl41
|
UTSW |
2 |
69,508,491 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0879:Klhl41
|
UTSW |
2 |
69,513,827 (GRCm39) |
unclassified |
probably benign |
|
R1531:Klhl41
|
UTSW |
2 |
69,501,084 (GRCm39) |
missense |
probably benign |
0.03 |
R1678:Klhl41
|
UTSW |
2 |
69,501,283 (GRCm39) |
missense |
probably benign |
0.01 |
R1792:Klhl41
|
UTSW |
2 |
69,501,146 (GRCm39) |
missense |
probably benign |
0.01 |
R1900:Klhl41
|
UTSW |
2 |
69,504,963 (GRCm39) |
splice site |
probably benign |
|
R2012:Klhl41
|
UTSW |
2 |
69,513,840 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4041:Klhl41
|
UTSW |
2 |
69,501,054 (GRCm39) |
missense |
probably benign |
0.00 |
R5223:Klhl41
|
UTSW |
2 |
69,510,171 (GRCm39) |
nonsense |
probably null |
|
R5500:Klhl41
|
UTSW |
2 |
69,513,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R5643:Klhl41
|
UTSW |
2 |
69,500,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Klhl41
|
UTSW |
2 |
69,500,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R5656:Klhl41
|
UTSW |
2 |
69,513,876 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6264:Klhl41
|
UTSW |
2 |
69,510,176 (GRCm39) |
critical splice donor site |
probably null |
|
R6678:Klhl41
|
UTSW |
2 |
69,501,188 (GRCm39) |
missense |
probably benign |
0.04 |
R6731:Klhl41
|
UTSW |
2 |
69,505,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R7586:Klhl41
|
UTSW |
2 |
69,505,068 (GRCm39) |
missense |
probably benign |
0.33 |
R7664:Klhl41
|
UTSW |
2 |
69,501,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Klhl41
|
UTSW |
2 |
69,501,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Klhl41
|
UTSW |
2 |
69,500,868 (GRCm39) |
missense |
probably benign |
0.07 |
X0021:Klhl41
|
UTSW |
2 |
69,510,050 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Klhl41
|
UTSW |
2 |
69,505,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2016-08-02 |