Incidental Mutation 'IGL03105:Mkln1'
| ID |
418900 |
| 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: 0.739)
|
| Stock # |
IGL03105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
31375670-31493746 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 31435994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 318
(E318*)
|
| 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 null
Transcript: ENSMUST00000026699
AA Change: E318*
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: E318*
| 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: ENSMUST00000147614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150949
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss1 |
A |
G |
12: 112,599,155 (GRCm39) |
I129V |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,591,373 (GRCm39) |
H553R |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,483,950 (GRCm39) |
K2923R |
probably benign |
Het |
| Cadm3 |
A |
T |
1: 173,172,583 (GRCm39) |
L174M |
probably damaging |
Het |
| Car10 |
T |
C |
11: 92,991,101 (GRCm39) |
V17A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,387,686 (GRCm39) |
K1956E |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,565 (GRCm39) |
|
probably benign |
Het |
| Crim1 |
A |
T |
17: 78,623,179 (GRCm39) |
|
probably benign |
Het |
| Dedd |
G |
A |
1: 171,168,486 (GRCm39) |
R224H |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,084,001 (GRCm39) |
I229L |
probably null |
Het |
| Igkv17-121 |
A |
T |
6: 68,014,284 (GRCm39) |
Q112L |
probably damaging |
Het |
| Kcnk13 |
G |
A |
12: 100,027,369 (GRCm39) |
R148Q |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,370,904 (GRCm39) |
L51P |
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,956,715 (GRCm39) |
S41P |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,748,616 (GRCm39) |
D767G |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,019,199 (GRCm39) |
T8A |
probably benign |
Het |
| Mx1 |
C |
T |
16: 97,257,554 (GRCm39) |
V68I |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,279 (GRCm39) |
V350A |
possibly damaging |
Het |
| Nav2 |
T |
A |
7: 49,114,627 (GRCm39) |
S870R |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,474,579 (GRCm39) |
K358* |
probably null |
Het |
| Or51b4 |
A |
G |
7: 103,531,339 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,971 (GRCm39) |
|
probably benign |
Het |
| Or7a40 |
T |
C |
16: 16,491,390 (GRCm39) |
T152A |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,726,685 (GRCm39) |
R302G |
probably benign |
Het |
| Orai3 |
A |
G |
7: 127,372,725 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,615,569 (GRCm39) |
N859S |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,454,384 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
C |
T |
2: 144,423,940 (GRCm39) |
R530W |
probably damaging |
Het |
| Slc25a35 |
T |
C |
11: 68,859,496 (GRCm39) |
F3S |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,326,788 (GRCm39) |
I491K |
possibly damaging |
Het |
| Srrt |
A |
T |
5: 137,298,106 (GRCm39) |
N317K |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,450,592 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
C |
15: 54,909,195 (GRCm39) |
D683E |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,164,509 (GRCm39) |
C272S |
probably damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,850,173 (GRCm39) |
|
probably benign |
Het |
| Tg |
G |
T |
15: 66,586,955 (GRCm39) |
V1578F |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,457,682 (GRCm39) |
G188D |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,025,354 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,771,642 (GRCm39) |
Y147C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,521 (GRCm39) |
D11592V |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,475,329 (GRCm39) |
I842N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,511,258 (GRCm39) |
T89S |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,950,355 (GRCm39) |
M928T |
probably damaging |
Het |
| Usp43 |
A |
G |
11: 67,770,802 (GRCm39) |
S611P |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,626,958 (GRCm39) |
V1000A |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,566,824 (GRCm39) |
C380R |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,605,413 (GRCm39) |
C14G |
probably damaging |
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 |
|
IGL01569:Mkln1
|
APN |
6 |
31,405,063 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation