Incidental Mutation 'R7362:Mkln1'
| ID |
571408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkln1
|
| Ensembl Gene |
ENSMUSG00000025609 |
| Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
| Synonyms |
A130067F06Rik |
| MMRRC Submission |
045375-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.739)
|
| Stock # |
R7362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
31375670-31493746 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31445103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 333
(I333T)
|
| 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: I333T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: I333T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,295,534 (GRCm39) |
R193K |
probably damaging |
Het |
| Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
| Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
| Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
| Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
| Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
| Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,223,439 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
| Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
| Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
| Pcf11 |
A |
G |
7: 92,302,453 (GRCm39) |
L1219P |
possibly damaging |
Het |
| Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,573,719 (GRCm39) |
Q304L |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
| Prss23 |
C |
T |
7: 89,158,972 (GRCm39) |
A366T |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
| Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
| Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
| Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
| Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
| Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
| Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
| Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,777,194 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GGTAAAGTTTGTGTCTCCCACTG -3'
(R):5'- GAGCAAAGGTCACTCAGCAC -3'
Sequencing Primer
(F):5'- AAGTTTGTGTCTCCCACTGATACTTC -3'
(R):5'- GGTCACTCAGCACTATTAACTCTAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation