Incidental Mutation 'R6521:Mkln1'
| ID |
521263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mkln1
|
| Ensembl Gene |
ENSMUSG00000025609 |
| Gene Name |
muskelin 1, intracellular mediator containing kelch motifs |
| Synonyms |
A130067F06Rik |
| MMRRC Submission |
044647-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.739)
|
| Stock # |
R6521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
31375670-31493746 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31467479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 64
(D64E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026699]
[ENSMUST00000130108]
|
| AlphaFold |
O89050 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026699
AA Change: D592E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: D592E
| 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 damaging
Transcript: ENSMUST00000130108
AA Change: D64E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: D64E
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
| Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
| Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
| Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
| Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
| Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
| Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
| Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
| Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
| Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
| Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
| Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
| Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
| Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
| Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
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 |
|
|
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 |
|
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'- TGGCATTGGCAGTTAACTTACTGG -3'
(R):5'- GTGTCACGAATTATGGACCATAC -3'
Sequencing Primer
(F):5'- ATTGGCAGTTAACTTACTGGTTTTAG -3'
(R):5'- AGGCATCCTGGGCAATTTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation