Incidental Mutation 'R4819:Mkln1'
| ID |
370049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkln1
|
| Ensembl Gene |
ENSMUSG00000025609 |
| Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
| Synonyms |
|
| MMRRC Submission |
042000-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R4819 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
31398735-31516811 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31474486 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 454
(Q454L)
|
| 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
AA Change: Q454L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: Q454L
| 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: ENSMUST00000141045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200915
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,290,421 |
N761K |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,198,444 |
L444F |
possibly damaging |
Het |
| Akap8 |
G |
A |
17: 32,312,305 |
R378W |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,730,071 |
R693W |
probably damaging |
Het |
| As3mt |
G |
T |
19: 46,707,529 |
|
probably benign |
Het |
| Atp6v1e2 |
A |
G |
17: 86,944,538 |
V144A |
probably benign |
Het |
| Bfar |
C |
T |
16: 13,687,467 |
Q114* |
probably null |
Het |
| Casd1 |
C |
T |
6: 4,621,225 |
A261V |
probably damaging |
Het |
| Ccdc36 |
A |
G |
9: 108,406,678 |
V189A |
probably benign |
Het |
| Cd177 |
A |
T |
7: 24,752,271 |
I440K |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,836,477 |
Y2910* |
probably null |
Het |
| Csl |
A |
G |
10: 99,758,082 |
F374L |
possibly damaging |
Het |
| Dctn1 |
G |
A |
6: 83,190,519 |
R275H |
probably damaging |
Het |
| Derl3 |
A |
G |
10: 75,893,879 |
|
probably null |
Het |
| Dst |
A |
G |
1: 33,968,835 |
I117V |
probably benign |
Het |
| Edc3 |
T |
A |
9: 57,748,397 |
C477S |
possibly damaging |
Het |
| Efs |
T |
C |
14: 54,917,153 |
E450G |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,920,939 |
I212F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,988,442 |
I4840V |
probably benign |
Het |
| Gm14025 |
G |
T |
2: 129,040,801 |
N98K |
probably damaging |
Het |
| Gpam |
T |
A |
19: 55,078,341 |
I581F |
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,458,358 |
D45G |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,908,072 |
Y478H |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 34,939,388 |
M561I |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,966 |
Y299* |
probably null |
Het |
| Ik |
T |
A |
18: 36,753,257 |
|
probably null |
Het |
| Khsrp |
A |
G |
17: 57,023,360 |
S582P |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,292,126 |
D182G |
probably damaging |
Het |
| Krt2 |
T |
C |
15: 101,811,544 |
T564A |
unknown |
Het |
| Lig4 |
A |
G |
8: 9,971,885 |
S632P |
probably benign |
Het |
| Med1 |
C |
T |
11: 98,155,432 |
|
probably benign |
Het |
| Mgat3 |
T |
A |
15: 80,212,349 |
I459N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,419,937 |
E591G |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,292,202 |
L1364Q |
probably damaging |
Het |
| Oas1d |
T |
C |
5: 120,915,717 |
V80A |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,038,848 |
D5180E |
probably damaging |
Het |
| Pax6 |
G |
A |
2: 105,692,277 |
|
probably null |
Het |
| Pcdh15 |
A |
C |
10: 74,324,389 |
N446T |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 125,855,230 |
F922L |
probably benign |
Het |
| Ptpn4 |
G |
T |
1: 119,659,850 |
T921K |
probably benign |
Het |
| Selenov |
A |
G |
7: 28,290,321 |
|
probably null |
Het |
| Tmem100 |
A |
G |
11: 90,035,445 |
T33A |
probably benign |
Het |
| Tmem59 |
C |
T |
4: 107,187,681 |
Q66* |
probably null |
Het |
| Trav21-dv12 |
T |
A |
14: 53,876,613 |
Y63* |
probably null |
Het |
| Trim66 |
G |
T |
7: 109,457,586 |
H1121Q |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,447,943 |
Y533C |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,364,610 |
P520L |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,791,749 |
V15483E |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 105,483,744 |
|
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,403,914 |
T3069K |
probably benign |
Het |
| Zfp281 |
A |
G |
1: 136,625,710 |
H142R |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,060,044 |
R1190L |
probably damaging |
Het |
| Zfp935 |
T |
A |
13: 62,454,417 |
H323L |
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 |
|
R1248:Mkln1
|
UTSW |
6 |
31,489,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TTCTTACAGATGTGTATGGACTCAG -3'
(R):5'- CGGTATCTTCAGGAGTTTGTAAGC -3'
Sequencing Primer
(F):5'- CAGATGTGTATGGACTCAGAAAAAC -3'
(R):5'- GGAAATGACTAAGGGACAACTCACTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation