Incidental Mutation 'R6678:Klhl41'
| ID |
527336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl41
|
| Ensembl Gene |
ENSMUSG00000075307 |
| Gene Name |
kelch-like 41 |
| Synonyms |
Kbtbd10, LOC228003 |
| MMRRC Submission |
044797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69500464-69514574 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 69501188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 216
(S216R)
|
| 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 |
probably benign
Transcript: ENSMUST00000100050
AA Change: S216R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
AA Change: S216R
| 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 |
|
| Meta Mutation Damage Score |
0.0978 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
| Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
| Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
| Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
| Gdap1l1 |
T |
A |
2: 163,280,574 (GRCm39) |
S37T |
probably benign |
Het |
| Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
| Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
| Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
| Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
| P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
| Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
|
IGL03237:Klhl41
|
APN |
2 |
69,500,902 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCGAGACTTGCCATTTCTG -3'
(R):5'- GTCTTCATCACCAACATCGC -3'
Sequencing Primer
(F):5'- CCATTTCTGCCCGGGAGTTTG -3'
(R):5'- AACATCGCCGTTCACCTCG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation