Incidental Mutation 'R5083:Mypn'
ID |
387267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
042672-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R5083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62954307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1224
(V1224D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
[ENSMUST00000218978]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095580
AA Change: V1224D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: V1224D
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 |
possibly damaging
Transcript: ENSMUST00000218978
AA Change: V109D
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
Comp |
C |
T |
8: 70,833,950 (GRCm39) |
T655M |
probably damaging |
Het |
Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
Dtx2 |
T |
C |
5: 136,041,044 (GRCm39) |
Y150H |
probably damaging |
Het |
Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,097,512 (GRCm39) |
T154A |
probably benign |
Het |
Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
Esf1 |
G |
T |
2: 139,998,991 (GRCm39) |
A495E |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,000,499 (GRCm39) |
Y429C |
possibly damaging |
Het |
Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,893,392 (GRCm39) |
Y582* |
probably null |
Het |
Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
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 |
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 |
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'- TCCGTCTTCCAAGCAGCAAG -3'
(R):5'- GAGAACAAGATGGAGGCTTTTC -3'
Sequencing Primer
(F):5'- CGTCTTCCAAGCAGCAAGTGTAATG -3'
(R):5'- TCTAGGCTGTGATTGAAAAGCG -3'
|
Posted On |
2016-06-06 |