Incidental Mutation 'R7477:Mypn'
ID |
579561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
045551-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R7477 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62961500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1031
(M1031V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
[ENSMUST00000218978]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095580
AA Change: M1031V
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: M1031V
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
low complexity region
|
225 |
245 |
N/A |
INTRINSIC |
IGc2
|
279 |
346 |
2.16e-8 |
SMART |
low complexity region
|
384 |
405 |
N/A |
INTRINSIC |
IGc2
|
444 |
519 |
1.69e-10 |
SMART |
low complexity region
|
636 |
648 |
N/A |
INTRINSIC |
low complexity region
|
659 |
675 |
N/A |
INTRINSIC |
low complexity region
|
721 |
741 |
N/A |
INTRINSIC |
low complexity region
|
779 |
794 |
N/A |
INTRINSIC |
low complexity region
|
826 |
838 |
N/A |
INTRINSIC |
low complexity region
|
922 |
933 |
N/A |
INTRINSIC |
IGc2
|
953 |
1022 |
1.64e-8 |
SMART |
IGc2
|
1080 |
1148 |
3.67e-11 |
SMART |
IG
|
1173 |
1259 |
1.17e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218978
|
Meta Mutation Damage Score |
0.0952 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
97% (66/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
All alleles(51) : Gene trapped(51) |
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
G |
T |
5: 35,749,447 (GRCm39) |
E191* |
probably null |
Het |
Adam26a |
T |
A |
8: 44,022,107 (GRCm39) |
E461V |
probably damaging |
Het |
Adamtsl1 |
G |
A |
4: 86,333,888 (GRCm39) |
R1539Q |
probably damaging |
Het |
Adipor2 |
A |
T |
6: 119,338,883 (GRCm39) |
H123Q |
probably benign |
Het |
Akap13 |
C |
T |
7: 75,398,995 (GRCm39) |
S2691L |
probably benign |
Het |
Aldh1l1 |
T |
C |
6: 90,575,369 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,621,124 (GRCm39) |
S909R |
possibly damaging |
Het |
Bop1 |
T |
C |
15: 76,339,526 (GRCm39) |
E273G |
probably damaging |
Het |
Car1 |
G |
A |
3: 14,841,343 (GRCm39) |
H97Y |
probably damaging |
Het |
Casp14 |
T |
C |
10: 78,550,138 (GRCm39) |
N170S |
probably benign |
Het |
Ccdc158 |
A |
T |
5: 92,798,555 (GRCm39) |
L382M |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,368,716 (GRCm39) |
Q1279H |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,410,811 (GRCm39) |
N432S |
probably benign |
Het |
Ctdp1 |
T |
C |
18: 80,483,929 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,916,208 (GRCm39) |
I691T |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,883,557 (GRCm39) |
I2562T |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,356,839 (GRCm39) |
I240F |
probably damaging |
Het |
Ell |
T |
C |
8: 71,037,868 (GRCm39) |
S308P |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,469,489 (GRCm39) |
D26G |
|
Het |
Fam171a1 |
T |
C |
2: 3,226,676 (GRCm39) |
V603A |
probably benign |
Het |
Fam83e |
G |
A |
7: 45,378,404 (GRCm39) |
G476D |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,508,750 (GRCm39) |
|
probably null |
Het |
Fcer1a |
C |
T |
1: 173,048,851 (GRCm39) |
|
probably null |
Het |
Gpr179 |
G |
T |
11: 97,226,665 (GRCm39) |
T1830K |
possibly damaging |
Het |
Grin3a |
G |
A |
4: 49,719,278 (GRCm39) |
P823S |
probably damaging |
Het |
Heatr4 |
T |
A |
12: 84,026,604 (GRCm39) |
I218F |
probably damaging |
Het |
Il36rn |
T |
A |
2: 24,169,704 (GRCm39) |
Y21* |
probably null |
Het |
Jakmip1 |
A |
G |
5: 37,330,915 (GRCm39) |
T532A |
probably benign |
Het |
Klf11 |
A |
G |
12: 24,703,562 (GRCm39) |
D16G |
probably benign |
Het |
Lrp1 |
T |
A |
10: 127,404,789 (GRCm39) |
I1971F |
probably damaging |
Het |
Lrrc9 |
T |
A |
12: 72,550,301 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
C |
T |
15: 91,696,528 (GRCm39) |
L2439F |
probably damaging |
Het |
Lypd10 |
A |
G |
7: 24,413,673 (GRCm39) |
T230A |
probably benign |
Het |
Mapk14 |
G |
A |
17: 28,964,052 (GRCm39) |
D313N |
probably damaging |
Het |
Max |
A |
T |
12: 76,999,960 (GRCm39) |
S52T |
probably benign |
Het |
Mrpl23 |
A |
G |
7: 142,091,018 (GRCm39) |
R80G |
possibly damaging |
Het |
Muc5ac |
C |
A |
7: 141,370,019 (GRCm39) |
N3186K |
possibly damaging |
Het |
Mylk2 |
G |
A |
2: 152,762,261 (GRCm39) |
V511I |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
Ncbp1 |
A |
T |
4: 46,157,897 (GRCm39) |
E378D |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,956 (GRCm39) |
D174E |
probably benign |
Het |
Nid2 |
T |
A |
14: 19,856,041 (GRCm39) |
D1255E |
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,782,675 (GRCm39) |
C261R |
probably damaging |
Het |
Or5w22 |
A |
G |
2: 87,362,431 (GRCm39) |
N18S |
probably benign |
Het |
Pgam1 |
T |
A |
19: 41,905,255 (GRCm39) |
H196Q |
probably damaging |
Het |
Pja2 |
A |
C |
17: 64,616,640 (GRCm39) |
V85G |
possibly damaging |
Het |
Pkd2 |
G |
A |
5: 104,631,108 (GRCm39) |
V511M |
probably benign |
Het |
Ppp2cb |
T |
A |
8: 34,105,502 (GRCm39) |
S171T |
probably benign |
Het |
Prkab2 |
T |
C |
3: 97,566,063 (GRCm39) |
F45S |
probably damaging |
Het |
Rabep2 |
A |
T |
7: 126,043,990 (GRCm39) |
|
probably null |
Het |
Rnf41 |
T |
A |
10: 128,271,303 (GRCm39) |
I71N |
probably damaging |
Het |
Slc5a7 |
G |
A |
17: 54,588,787 (GRCm39) |
P287S |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,321,808 (GRCm39) |
D25G |
probably benign |
Het |
Sptb |
A |
T |
12: 76,675,339 (GRCm39) |
L225Q |
probably damaging |
Het |
Tenm4 |
A |
C |
7: 96,495,015 (GRCm39) |
I1148L |
probably damaging |
Het |
Tnk2 |
C |
A |
16: 32,496,709 (GRCm39) |
|
probably null |
Het |
Trank1 |
G |
A |
9: 111,194,025 (GRCm39) |
S683N |
probably benign |
Het |
Trp53bp1 |
A |
C |
2: 121,066,827 (GRCm39) |
V633G |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,484,479 (GRCm39) |
K182E |
possibly damaging |
Het |
Uncx |
A |
T |
5: 139,533,017 (GRCm39) |
T361S |
probably benign |
Het |
Vmn2r11 |
A |
T |
5: 109,207,214 (GRCm39) |
N35K |
possibly damaging |
Het |
Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,399,060 (GRCm39) |
V640M |
probably damaging |
Het |
Washc4 |
T |
C |
10: 83,410,307 (GRCm39) |
Y632H |
probably damaging |
Het |
Xkr6 |
T |
C |
14: 63,844,129 (GRCm39) |
S51P |
possibly damaging |
Het |
Zer1 |
C |
A |
2: 29,997,988 (GRCm39) |
K408N |
probably null |
Het |
Znhit2 |
A |
G |
19: 6,112,501 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Mypn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00938:Mypn
|
APN |
10 |
63,028,202 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01137:Mypn
|
APN |
10 |
62,988,633 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01383:Mypn
|
APN |
10 |
62,971,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01560:Mypn
|
APN |
10 |
62,970,743 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01569:Mypn
|
APN |
10 |
62,963,538 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02197:Mypn
|
APN |
10 |
62,959,057 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02829:Mypn
|
APN |
10 |
63,028,365 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03221:Mypn
|
APN |
10 |
62,966,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Mypn
|
APN |
10 |
63,028,644 (GRCm39) |
missense |
probably benign |
0.01 |
2107:Mypn
|
UTSW |
10 |
63,039,530 (GRCm39) |
utr 5 prime |
probably benign |
|
PIT4576001:Mypn
|
UTSW |
10 |
62,955,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R0115:Mypn
|
UTSW |
10 |
63,028,159 (GRCm39) |
splice site |
probably benign |
|
R0377:Mypn
|
UTSW |
10 |
62,963,401 (GRCm39) |
unclassified |
probably benign |
|
R0480:Mypn
|
UTSW |
10 |
63,028,982 (GRCm39) |
missense |
probably benign |
0.01 |
R0581:Mypn
|
UTSW |
10 |
62,998,023 (GRCm39) |
missense |
probably benign |
0.06 |
R0669:Mypn
|
UTSW |
10 |
62,970,702 (GRCm39) |
splice site |
probably benign |
|
R0822:Mypn
|
UTSW |
10 |
63,005,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R1209:Mypn
|
UTSW |
10 |
62,954,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Mypn
|
UTSW |
10 |
62,988,636 (GRCm39) |
missense |
probably damaging |
0.96 |
R1513:Mypn
|
UTSW |
10 |
63,005,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R1750:Mypn
|
UTSW |
10 |
62,971,976 (GRCm39) |
missense |
probably benign |
0.01 |
R1780:Mypn
|
UTSW |
10 |
62,957,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R1791:Mypn
|
UTSW |
10 |
62,961,472 (GRCm39) |
missense |
probably damaging |
0.97 |
R1859:Mypn
|
UTSW |
10 |
62,981,969 (GRCm39) |
missense |
probably benign |
|
R1903:Mypn
|
UTSW |
10 |
62,959,176 (GRCm39) |
missense |
probably benign |
0.06 |
R2275:Mypn
|
UTSW |
10 |
62,966,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Mypn
|
UTSW |
10 |
63,028,648 (GRCm39) |
nonsense |
probably null |
|
R3425:Mypn
|
UTSW |
10 |
62,954,196 (GRCm39) |
splice site |
probably benign |
|
R3767:Mypn
|
UTSW |
10 |
62,961,486 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3768:Mypn
|
UTSW |
10 |
62,961,486 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3770:Mypn
|
UTSW |
10 |
62,961,486 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3777:Mypn
|
UTSW |
10 |
62,983,761 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3785:Mypn
|
UTSW |
10 |
63,028,961 (GRCm39) |
missense |
probably benign |
0.43 |
R3888:Mypn
|
UTSW |
10 |
63,028,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R4289:Mypn
|
UTSW |
10 |
62,966,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R4301:Mypn
|
UTSW |
10 |
62,954,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R4366:Mypn
|
UTSW |
10 |
63,028,487 (GRCm39) |
missense |
probably benign |
0.00 |
R4459:Mypn
|
UTSW |
10 |
63,028,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Mypn
|
UTSW |
10 |
62,983,715 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4995:Mypn
|
UTSW |
10 |
62,955,747 (GRCm39) |
splice site |
probably null |
|
R5064:Mypn
|
UTSW |
10 |
62,959,150 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5083:Mypn
|
UTSW |
10 |
62,954,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R5108:Mypn
|
UTSW |
10 |
62,972,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Mypn
|
UTSW |
10 |
62,955,965 (GRCm39) |
missense |
probably benign |
0.03 |
R5438:Mypn
|
UTSW |
10 |
62,971,618 (GRCm39) |
nonsense |
probably null |
|
R5590:Mypn
|
UTSW |
10 |
62,955,827 (GRCm39) |
missense |
probably benign |
0.27 |
R5652:Mypn
|
UTSW |
10 |
62,971,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Mypn
|
UTSW |
10 |
62,963,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R5970:Mypn
|
UTSW |
10 |
62,966,802 (GRCm39) |
missense |
probably benign |
0.36 |
R6616:Mypn
|
UTSW |
10 |
63,005,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Mypn
|
UTSW |
10 |
62,952,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R6987:Mypn
|
UTSW |
10 |
63,028,910 (GRCm39) |
missense |
probably benign |
0.00 |
R7020:Mypn
|
UTSW |
10 |
63,028,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Mypn
|
UTSW |
10 |
62,970,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:Mypn
|
UTSW |
10 |
63,028,910 (GRCm39) |
missense |
probably benign |
0.00 |
R7853:Mypn
|
UTSW |
10 |
62,981,652 (GRCm39) |
missense |
probably benign |
0.00 |
R8367:Mypn
|
UTSW |
10 |
62,971,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R8464:Mypn
|
UTSW |
10 |
62,966,977 (GRCm39) |
nonsense |
probably null |
|
R8750:Mypn
|
UTSW |
10 |
63,003,036 (GRCm39) |
missense |
probably benign |
0.00 |
R8947:Mypn
|
UTSW |
10 |
63,005,156 (GRCm39) |
missense |
probably damaging |
0.97 |
R8998:Mypn
|
UTSW |
10 |
62,998,050 (GRCm39) |
nonsense |
probably null |
|
R8999:Mypn
|
UTSW |
10 |
62,998,050 (GRCm39) |
nonsense |
probably null |
|
R9032:Mypn
|
UTSW |
10 |
62,983,894 (GRCm39) |
splice site |
probably null |
|
R9085:Mypn
|
UTSW |
10 |
62,983,894 (GRCm39) |
splice site |
probably null |
|
R9130:Mypn
|
UTSW |
10 |
63,028,652 (GRCm39) |
missense |
probably benign |
0.10 |
R9484:Mypn
|
UTSW |
10 |
63,003,019 (GRCm39) |
missense |
probably benign |
0.31 |
X0022:Mypn
|
UTSW |
10 |
62,971,842 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCAGAACACCAATGC -3'
(R):5'- AAACGTTGCAGGGTTTTCTTTC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- AGGGTTTTCTTTCCTTTTGAACACAG -3'
|
Posted On |
2019-10-07 |