Incidental Mutation 'IGL01569:Mkln1'
| ID |
91103 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mkln1
|
| Ensembl Gene |
ENSMUSG00000025609 |
| Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
| Synonyms |
A130067F06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.725)
|
| Stock # |
IGL01569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
31375670-31493746 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 31405063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026699]
|
| AlphaFold |
O89050 |
| PDB Structure |
The crystal structure of discoidin domain from muskelin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026699
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F5_F8_type_C
|
20 |
150 |
5.8e-11 |
PFAM |
|
LisH
|
172 |
204 |
4.68e-3 |
SMART |
|
CTLH
|
206 |
258 |
5.29e-2 |
SMART |
|
Pfam:Kelch_4
|
270 |
324 |
5.8e-7 |
PFAM |
|
Pfam:Kelch_1
|
279 |
315 |
2.2e-8 |
PFAM |
|
Pfam:Kelch_3
|
282 |
334 |
7.6e-13 |
PFAM |
|
Pfam:Kelch_1
|
459 |
498 |
2.8e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154954
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,215,827 (GRCm39) |
V311A |
probably benign |
Het |
| Bdh1 |
T |
C |
16: 31,273,909 (GRCm39) |
M194T |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,863,295 (GRCm39) |
R808G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,063,977 (GRCm39) |
I402M |
probably benign |
Het |
| Gm5422 |
T |
C |
10: 31,125,897 (GRCm39) |
|
noncoding transcript |
Het |
| Il5ra |
C |
A |
6: 106,708,794 (GRCm39) |
M1I |
probably null |
Het |
| Kcnk4 |
T |
A |
19: 6,904,545 (GRCm39) |
I240F |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,897,523 (GRCm39) |
E698G |
probably damaging |
Het |
| Mypn |
C |
T |
10: 62,963,538 (GRCm39) |
G978R |
probably damaging |
Het |
| Or2m12 |
T |
C |
16: 19,105,410 (GRCm39) |
T28A |
probably benign |
Het |
| Podn |
T |
A |
4: 107,881,496 (GRCm39) |
Y6F |
probably damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,956,195 (GRCm39) |
D544G |
probably damaging |
Het |
| Reck |
C |
A |
4: 43,925,172 (GRCm39) |
S470R |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,123,024 (GRCm39) |
H891R |
probably benign |
Het |
| Tbata |
C |
T |
10: 61,011,739 (GRCm39) |
R92* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,822,841 (GRCm39) |
N103S |
probably damaging |
Het |
| Timm21 |
A |
G |
18: 84,969,400 (GRCm39) |
V8A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,948,124 (GRCm39) |
V863A |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,436 (GRCm39) |
D953G |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,938,390 (GRCm39) |
|
probably null |
Het |
| Trgv4 |
A |
G |
13: 19,369,678 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,272 (GRCm39) |
N108Y |
possibly damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,953,432 (GRCm39) |
M56T |
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 45,020,718 (GRCm39) |
E1434G |
probably benign |
Het |
|
| Other mutations in Mkln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Mkln1
|
APN |
6 |
31,409,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01882:Mkln1
|
APN |
6 |
31,428,469 (GRCm39) |
missense |
probably benign |
|
|
IGL02009:Mkln1
|
APN |
6 |
31,426,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02160:Mkln1
|
APN |
6 |
31,469,726 (GRCm39) |
splice site |
probably benign |
|
|
IGL02994:Mkln1
|
APN |
6 |
31,467,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Mkln1
|
APN |
6 |
31,435,994 (GRCm39) |
nonsense |
probably null |
|
|
PIT4377001:Mkln1
|
UTSW |
6 |
31,451,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Mkln1
|
UTSW |
6 |
31,454,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0446:Mkln1
|
UTSW |
6 |
31,426,439 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0518:Mkln1
|
UTSW |
6 |
31,445,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0600:Mkln1
|
UTSW |
6 |
31,409,862 (GRCm39) |
splice site |
probably benign |
|
|
R1066:Mkln1
|
UTSW |
6 |
31,395,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1248:Mkln1
|
UTSW |
6 |
31,466,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Mkln1
|
UTSW |
6 |
31,484,579 (GRCm39) |
missense |
probably benign |
|
|
R1921:Mkln1
|
UTSW |
6 |
31,405,113 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1978:Mkln1
|
UTSW |
6 |
31,467,465 (GRCm39) |
nonsense |
probably null |
|
|
R3836:Mkln1
|
UTSW |
6 |
31,445,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3895:Mkln1
|
UTSW |
6 |
31,484,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4456:Mkln1
|
UTSW |
6 |
31,403,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Mkln1
|
UTSW |
6 |
31,410,093 (GRCm39) |
intron |
probably benign |
|
|
R4737:Mkln1
|
UTSW |
6 |
31,403,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Mkln1
|
UTSW |
6 |
31,451,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4960:Mkln1
|
UTSW |
6 |
31,435,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Mkln1
|
UTSW |
6 |
31,467,416 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5364:Mkln1
|
UTSW |
6 |
31,473,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Mkln1
|
UTSW |
6 |
31,473,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5797:Mkln1
|
UTSW |
6 |
31,410,004 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5890:Mkln1
|
UTSW |
6 |
31,467,482 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5940:Mkln1
|
UTSW |
6 |
31,466,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Mkln1
|
UTSW |
6 |
31,408,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6521:Mkln1
|
UTSW |
6 |
31,467,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7362:Mkln1
|
UTSW |
6 |
31,445,103 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7711:Mkln1
|
UTSW |
6 |
31,469,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8094:Mkln1
|
UTSW |
6 |
31,469,588 (GRCm39) |
nonsense |
probably null |
|
|
R8340:Mkln1
|
UTSW |
6 |
31,409,878 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8379:Mkln1
|
UTSW |
6 |
31,435,900 (GRCm39) |
nonsense |
probably null |
|
|
R8972:Mkln1
|
UTSW |
6 |
31,473,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9403:Mkln1
|
UTSW |
6 |
31,409,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mkln1
|
UTSW |
6 |
31,428,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Mkln1
|
UTSW |
6 |
31,375,856 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2013-12-09 |
Incidental Mutation