Incidental Mutation 'R1066:Mkln1'
ID |
85997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mkln1
|
Ensembl Gene |
ENSMUSG00000025609 |
Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
Synonyms |
A130067F06Rik |
MMRRC Submission |
039152-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.739)
|
Stock # |
R1066 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
31375670-31493746 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 31395922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 52
(N52T)
|
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 |
possibly damaging
Transcript: ENSMUST00000026699
AA Change: N52T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026699 Gene: ENSMUSG00000025609 AA Change: N52T
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: ENSMUST00000133182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154954
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
Dtx4 |
G |
T |
19: 12,478,373 (GRCm39) |
T70K |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
Msantd5f6 |
C |
A |
4: 73,320,066 (GRCm39) |
V238L |
possibly damaging |
Het |
Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
Pik3r1 |
T |
A |
13: 101,825,171 (GRCm39) |
R465S |
probably damaging |
Het |
Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Uba2 |
A |
T |
7: 33,858,247 (GRCm39) |
F70I |
probably damaging |
Het |
Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCATCCCAAGGAGTTAACCTATAACC -3'
(R):5'- CTTAGAGCAGAACAGCACTCAAGTCC -3'
Sequencing Primer
(F):5'- ctgctacagcctttattttgtttc -3'
(R):5'- atGTCAATAGGAAGTAAAAGTGTCTC -3'
|
Posted On |
2013-11-18 |