Incidental Mutation 'R6930:Mypn'
ID |
539963 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
045046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R6930 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 62952718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 174
(I174S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
[ENSMUST00000218978]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095580
AA Change: I1289S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: I1289S
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 damaging
Transcript: ENSMUST00000218978
AA Change: I174S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
100% (63/63) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,466,563 (GRCm39) |
D156E |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
Akr1e1 |
T |
C |
13: 4,652,714 (GRCm39) |
D41G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,126,018 (GRCm39) |
I100V |
probably benign |
Het |
Atr |
T |
C |
9: 95,748,688 (GRCm39) |
I411T |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,230,764 (GRCm39) |
S453G |
probably benign |
Het |
Brdt |
C |
T |
5: 107,507,081 (GRCm39) |
L494F |
probably benign |
Het |
Ccser1 |
T |
C |
6: 62,357,009 (GRCm39) |
S816P |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,957,347 (GRCm39) |
I157T |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,484,759 (GRCm39) |
|
probably null |
Het |
Chst15 |
T |
C |
7: 131,870,759 (GRCm39) |
I259V |
possibly damaging |
Het |
Cracdl |
A |
T |
1: 37,664,026 (GRCm39) |
I624N |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 16,142,409 (GRCm39) |
M1498K |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,135,151 (GRCm39) |
D1343G |
probably damaging |
Het |
Denr |
T |
C |
5: 124,046,250 (GRCm39) |
Y27H |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,413,825 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,057,378 (GRCm39) |
F1819S |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,108,642 (GRCm39) |
Y223* |
probably null |
Het |
Fry |
T |
C |
5: 150,351,695 (GRCm39) |
L1733P |
probably benign |
Het |
Gabrb2 |
T |
C |
11: 42,488,440 (GRCm39) |
V302A |
probably damaging |
Het |
Gimap9 |
G |
A |
6: 48,654,601 (GRCm39) |
D53N |
probably damaging |
Het |
Gje1 |
G |
T |
10: 14,593,886 (GRCm39) |
L3I |
possibly damaging |
Het |
Gm49383 |
G |
T |
12: 69,239,586 (GRCm39) |
A645E |
probably damaging |
Het |
Gm8947 |
G |
A |
1: 151,068,347 (GRCm39) |
G60D |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,405,106 (GRCm39) |
|
probably null |
Het |
Hace1 |
A |
G |
10: 45,494,598 (GRCm39) |
H136R |
probably damaging |
Het |
Herc3 |
T |
G |
6: 58,893,444 (GRCm39) |
V902G |
probably damaging |
Het |
Hspbp1 |
T |
C |
7: 4,687,606 (GRCm39) |
R2G |
probably benign |
Het |
Iqch |
T |
A |
9: 63,387,856 (GRCm39) |
K811N |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,753,962 (GRCm39) |
|
probably benign |
Het |
Lonrf2 |
A |
T |
1: 38,843,417 (GRCm39) |
V372D |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,551,786 (GRCm39) |
Y729H |
probably damaging |
Het |
Lrrc32 |
A |
G |
7: 98,148,471 (GRCm39) |
N417S |
possibly damaging |
Het |
Malrd1 |
T |
A |
2: 15,802,478 (GRCm39) |
C1064S |
unknown |
Het |
Mast3 |
G |
A |
8: 71,252,115 (GRCm39) |
R20* |
probably null |
Het |
Nrg1 |
G |
A |
8: 32,308,534 (GRCm39) |
T505M |
probably damaging |
Het |
Or13p8 |
A |
G |
4: 118,584,338 (GRCm39) |
K298R |
probably damaging |
Het |
Or6y1 |
A |
G |
1: 174,276,677 (GRCm39) |
I163V |
probably damaging |
Het |
Or7a42 |
A |
G |
10: 78,791,615 (GRCm39) |
D192G |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,395 (GRCm39) |
Y266H |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,850,958 (GRCm39) |
E1132G |
probably damaging |
Het |
Pla2g4d |
A |
T |
2: 120,101,114 (GRCm39) |
M521K |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,913,770 (GRCm39) |
H1164R |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,592 (GRCm39) |
V1218A |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,191,630 (GRCm39) |
S119P |
probably benign |
Het |
Pole |
T |
A |
5: 110,441,156 (GRCm39) |
D203E |
probably benign |
Het |
Rapgefl1 |
T |
A |
11: 98,737,947 (GRCm39) |
L387Q |
probably damaging |
Het |
Rbm33 |
T |
C |
5: 28,557,504 (GRCm39) |
I199T |
probably benign |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rufy1 |
C |
A |
11: 50,289,207 (GRCm39) |
R545L |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,690,699 (GRCm39) |
D1117V |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,815,141 (GRCm39) |
V621A |
possibly damaging |
Het |
Sparcl1 |
T |
A |
5: 104,234,940 (GRCm39) |
Y525F |
probably damaging |
Het |
Spon2 |
A |
G |
5: 33,373,771 (GRCm39) |
V180A |
probably benign |
Het |
Trav10n |
G |
A |
14: 53,359,947 (GRCm39) |
V75M |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,923,543 (GRCm39) |
L84P |
probably damaging |
Het |
Vmn1r23 |
C |
T |
6: 57,903,130 (GRCm39) |
R216K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,364 (GRCm39) |
T595A |
probably benign |
Het |
Vmn2r66 |
T |
A |
7: 84,661,216 (GRCm39) |
I5F |
possibly damaging |
Het |
Zfp879 |
C |
T |
11: 50,723,839 (GRCm39) |
G406R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,713,869 (GRCm39) |
D261V |
probably damaging |
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 |
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 |
R7477:Mypn
|
UTSW |
10 |
62,961,500 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- AAACTCACTCCAATCCAGTTGTTTG -3'
(R):5'- AGACTCACCTGTGCTTAAATGC -3'
Sequencing Primer
(F):5'- GTTTGGAAACCACTGCATACGGTC -3'
(R):5'- TGCTTTACCAAGGATTCACAGG -3'
|
Posted On |
2018-11-06 |