Incidental Mutation 'R8998:Mypn'
ID |
684821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
068829-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R8998 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 62998050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 420
(L420*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000095580
AA Change: L420*
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: L420*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aipl1 |
T |
C |
11: 71,921,083 (GRCm39) |
E245G |
possibly damaging |
Het |
Cd6 |
A |
T |
19: 10,776,642 (GRCm39) |
C128S |
probably damaging |
Het |
Cep41 |
T |
C |
6: 30,666,165 (GRCm39) |
D98G |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,818,137 (GRCm39) |
K525E |
probably damaging |
Het |
Ddx10 |
T |
C |
9: 53,140,534 (GRCm39) |
E289G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,235 (GRCm39) |
T1428A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,666,684 (GRCm39) |
L631P |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,271 (GRCm39) |
C187S |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,640,477 (GRCm39) |
M1072L |
probably benign |
Het |
Fap |
T |
C |
2: 62,367,368 (GRCm39) |
H338R |
probably benign |
Het |
Gabrg1 |
T |
A |
5: 70,973,378 (GRCm39) |
I59F |
probably benign |
Het |
Glb1l3 |
A |
T |
9: 26,764,914 (GRCm39) |
|
probably null |
Het |
Igkv8-26 |
C |
A |
6: 70,170,514 (GRCm39) |
A35E |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,635,013 (GRCm39) |
|
probably benign |
Het |
Krt18 |
A |
C |
15: 101,939,874 (GRCm39) |
E357D |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,646,512 (GRCm39) |
G470E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,473 (GRCm39) |
K454N |
possibly damaging |
Het |
Map2k3 |
T |
C |
11: 60,840,817 (GRCm39) |
V282A |
|
Het |
Men1 |
G |
A |
19: 6,389,960 (GRCm39) |
V538I |
probably benign |
Het |
Mfn1 |
T |
A |
3: 32,623,683 (GRCm39) |
M621K |
possibly damaging |
Het |
Mpdz |
C |
A |
4: 81,202,882 (GRCm39) |
G1838* |
probably null |
Het |
Msantd5f9 |
G |
C |
4: 73,837,420 (GRCm39) |
N99K |
probably damaging |
Het |
Nkx6-1 |
T |
C |
5: 101,812,082 (GRCm39) |
M7V |
unknown |
Het |
Notum |
G |
A |
11: 120,545,207 (GRCm39) |
H451Y |
probably benign |
Het |
Odad2 |
C |
A |
18: 7,211,574 (GRCm39) |
V767L |
possibly damaging |
Het |
Or11i1 |
A |
T |
3: 106,728,999 (GRCm39) |
I292N |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,988 (GRCm39) |
K297E |
probably damaging |
Het |
Or6c3 |
A |
G |
10: 129,309,386 (GRCm39) |
N275S |
probably benign |
Het |
Pabpc4l |
A |
C |
3: 46,400,783 (GRCm39) |
I287S |
probably benign |
Het |
Pcdha2 |
C |
T |
18: 37,073,428 (GRCm39) |
T353M |
possibly damaging |
Het |
Plekha1 |
T |
C |
7: 130,510,199 (GRCm39) |
I315T |
unknown |
Het |
Ppp2r2b |
C |
T |
18: 42,870,993 (GRCm39) |
A106T |
probably benign |
Het |
Prkch |
T |
C |
12: 73,742,973 (GRCm39) |
V209A |
probably damaging |
Het |
Ptprc |
A |
G |
1: 138,028,930 (GRCm39) |
C284R |
probably damaging |
Het |
Ptprf |
A |
G |
4: 118,083,671 (GRCm39) |
V804A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,684,360 (GRCm39) |
R1130* |
probably null |
Het |
Serpina6 |
C |
G |
12: 103,617,988 (GRCm39) |
R275P |
probably damaging |
Het |
Six3 |
T |
A |
17: 85,931,164 (GRCm39) |
H273Q |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,652,509 (GRCm39) |
P337T |
probably damaging |
Het |
Supt5 |
A |
G |
7: 28,037,848 (GRCm39) |
S2P |
unknown |
Het |
Tnik |
A |
G |
3: 28,719,920 (GRCm39) |
Y1264C |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,838,960 (GRCm39) |
T621A |
unknown |
Het |
Tyrp1 |
T |
C |
4: 80,763,094 (GRCm39) |
L327P |
probably damaging |
Het |
Vmn2r69 |
A |
C |
7: 85,060,307 (GRCm39) |
S426A |
probably benign |
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 |
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 |
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'- CCTAGACCTAGCTGTAACACCATAG -3'
(R):5'- GTGTATTTTACAGCCAGCCTGAC -3'
Sequencing Primer
(F):5'- GCTGTAACACCATAGAAACTTCTG -3'
(R):5'- CCTAGGAAGAACTGCAATAGATTTG -3'
|
Posted On |
2021-10-11 |