Incidental Mutation 'R1248:Mkln1'
| ID |
152186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkln1
|
| Ensembl Gene |
ENSMUSG00000025609 |
| Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
| Synonyms |
|
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
31398735-31516811 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31489368 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 520
(I520N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026699]
[ENSMUST00000130108]
|
| AlphaFold |
O89050 |
| PDB Structure |
The crystal structure of discoidin domain from muskelin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026699
AA Change: I520N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: I520N
| 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 |
probably benign
Transcript: ENSMUST00000130108
|
| SMART Domains |
Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1k3ia3
|
1 |
93 |
8e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150949
|
| Meta Mutation Damage Score |
0.7391 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,395,310 (GRCm38) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,353,847 (GRCm38) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,514,400 (GRCm38) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,474,500 (GRCm38) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,834,102 (GRCm38) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,817,192 (GRCm38) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,520,473 (GRCm38) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,681,244 (GRCm38) |
E773D |
possibly damaging |
Het |
| Dmtn |
C |
T |
14: 70,612,658 (GRCm38) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,755,823 (GRCm38) |
|
probably benign |
Het |
| Efcab1 |
A |
G |
16: 14,924,137 (GRCm38) |
M212V |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,503,076 (GRCm38) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 29,152,840 (GRCm38) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,301,609 (GRCm38) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,989,763 (GRCm38) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 140,099,718 (GRCm38) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,561,306 (GRCm38) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,839,789 (GRCm38) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,901,031 (GRCm38) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 39,056,847 (GRCm38) |
S573I |
probably damaging |
Het |
| Lrp11 |
A |
G |
10: 7,604,294 (GRCm38) |
H371R |
probably benign |
Het |
| Nagpa |
G |
T |
16: 5,198,616 (GRCm38) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,727,370 (GRCm38) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,925,881 (GRCm38) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,911 (GRCm38) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,053,966 (GRCm38) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,145,111 (GRCm38) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,605,777 (GRCm38) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 94,333,277 (GRCm38) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,609,754 (GRCm38) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,634,078 (GRCm38) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,857,067 (GRCm38) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,961,038 (GRCm38) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,502,125 (GRCm38) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,506,198 (GRCm38) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,360,777 (GRCm38) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,749,188 (GRCm38) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,560,049 (GRCm38) |
E53A |
probably damaging |
Het |
|
| Other mutations in Mkln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01138:Mkln1
|
APN |
6 |
31,432,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01569:Mkln1
|
APN |
6 |
31,428,128 (GRCm38) |
splice site |
probably benign |
|
|
IGL01882:Mkln1
|
APN |
6 |
31,451,534 (GRCm38) |
missense |
probably benign |
|
|
IGL02009:Mkln1
|
APN |
6 |
31,449,520 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02160:Mkln1
|
APN |
6 |
31,492,791 (GRCm38) |
splice site |
probably benign |
|
|
IGL02994:Mkln1
|
APN |
6 |
31,490,443 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03105:Mkln1
|
APN |
6 |
31,459,059 (GRCm38) |
nonsense |
probably null |
|
|
PIT4377001:Mkln1
|
UTSW |
6 |
31,474,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0376:Mkln1
|
UTSW |
6 |
31,478,018 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0446:Mkln1
|
UTSW |
6 |
31,449,504 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0518:Mkln1
|
UTSW |
6 |
31,468,132 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0600:Mkln1
|
UTSW |
6 |
31,432,927 (GRCm38) |
splice site |
probably benign |
|
|
R1066:Mkln1
|
UTSW |
6 |
31,418,987 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1717:Mkln1
|
UTSW |
6 |
31,507,644 (GRCm38) |
missense |
probably benign |
|
|
R1921:Mkln1
|
UTSW |
6 |
31,428,178 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1978:Mkln1
|
UTSW |
6 |
31,490,530 (GRCm38) |
nonsense |
probably null |
|
|
R3836:Mkln1
|
UTSW |
6 |
31,468,336 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3895:Mkln1
|
UTSW |
6 |
31,507,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4456:Mkln1
|
UTSW |
6 |
31,426,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4513:Mkln1
|
UTSW |
6 |
31,433,158 (GRCm38) |
intron |
probably benign |
|
|
R4737:Mkln1
|
UTSW |
6 |
31,426,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4819:Mkln1
|
UTSW |
6 |
31,474,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4960:Mkln1
|
UTSW |
6 |
31,459,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5291:Mkln1
|
UTSW |
6 |
31,490,481 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5364:Mkln1
|
UTSW |
6 |
31,496,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5739:Mkln1
|
UTSW |
6 |
31,496,702 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5797:Mkln1
|
UTSW |
6 |
31,433,069 (GRCm38) |
missense |
probably benign |
0.21 |
|
R5890:Mkln1
|
UTSW |
6 |
31,490,547 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5940:Mkln1
|
UTSW |
6 |
31,489,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6132:Mkln1
|
UTSW |
6 |
31,431,220 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6521:Mkln1
|
UTSW |
6 |
31,490,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7362:Mkln1
|
UTSW |
6 |
31,468,168 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7711:Mkln1
|
UTSW |
6 |
31,492,649 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8094:Mkln1
|
UTSW |
6 |
31,492,653 (GRCm38) |
nonsense |
probably null |
|
|
R8340:Mkln1
|
UTSW |
6 |
31,432,943 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8379:Mkln1
|
UTSW |
6 |
31,458,965 (GRCm38) |
nonsense |
probably null |
|
|
R8972:Mkln1
|
UTSW |
6 |
31,496,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9403:Mkln1
|
UTSW |
6 |
31,432,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Mkln1
|
UTSW |
6 |
31,451,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Mkln1
|
UTSW |
6 |
31,398,921 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAATGGCTGTGAGGTGTGTTAAAAGA -3'
(R):5'- GGTGGCAGAACCTAGACCAGCATAA -3'
Sequencing Primer
(F):5'- TGTGTTAAAAGATGAATACAGTGGGC -3'
(R):5'- agaagcaagaaaattgtgagtcc -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation