Incidental Mutation 'R0669:Mypn'
| ID |
62146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mypn
|
| Ensembl Gene |
ENSMUSG00000020067 |
| Gene Name |
myopalladin |
| Synonyms |
1110056A04Rik |
| MMRRC Submission |
038854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0669 (G1)
|
| Quality Score |
100 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 62970702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
|
| AlphaFold |
Q5DTJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095580
|
| SMART Domains |
Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
99% (80/81) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,089,671 (GRCm39) |
H71L |
possibly damaging |
Het |
| Abcb11 |
C |
A |
2: 69,159,662 (GRCm39) |
V10L |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,200,950 (GRCm39) |
T689A |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,036 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,614 (GRCm39) |
I181T |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,857,938 (GRCm39) |
V231D |
probably damaging |
Het |
| Angptl6 |
C |
T |
9: 20,787,823 (GRCm39) |
V197M |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,772 (GRCm39) |
V99A |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,189,906 (GRCm39) |
V110A |
probably benign |
Het |
| Ccdc32 |
A |
G |
2: 118,849,648 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
T |
C |
4: 137,155,841 (GRCm39) |
H22R |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,994,008 (GRCm39) |
T190A |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,435 (GRCm39) |
C557R |
probably damaging |
Het |
| Cntd1 |
A |
G |
11: 101,178,324 (GRCm39) |
T308A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,775,878 (GRCm39) |
|
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,524,878 (GRCm39) |
T93A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,342,911 (GRCm39) |
S1418R |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,288,422 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,875,716 (GRCm39) |
Y1075N |
probably benign |
Het |
| Eif2s1 |
C |
T |
12: 78,928,012 (GRCm39) |
|
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,725,419 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,573 (GRCm39) |
|
probably null |
Het |
| Gm5592 |
T |
C |
7: 40,805,254 (GRCm39) |
|
probably benign |
Het |
| Ipp |
A |
G |
4: 116,395,073 (GRCm39) |
Y536C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,014,638 (GRCm39) |
L599P |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,120 (GRCm39) |
T287S |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,537,025 (GRCm39) |
T232S |
probably benign |
Het |
| Lrrc63 |
G |
A |
14: 75,363,550 (GRCm39) |
H194Y |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,725,274 (GRCm39) |
T416A |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,875,153 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,517,223 (GRCm39) |
V258A |
probably benign |
Het |
| Mrpl46 |
A |
T |
7: 78,432,631 (GRCm39) |
L49* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,742 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mtrf1 |
T |
A |
14: 79,656,708 (GRCm39) |
Y403* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,850 (GRCm39) |
P176S |
unknown |
Het |
| Mup21 |
C |
T |
4: 62,068,964 (GRCm39) |
C9Y |
unknown |
Het |
| Mup-ps21 |
A |
T |
4: 61,949,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mybph |
T |
G |
1: 134,125,081 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,058,431 (GRCm39) |
S124P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Numa1 |
A |
C |
7: 101,648,884 (GRCm39) |
I872L |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,544 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or2a7 |
C |
T |
6: 43,150,938 (GRCm39) |
T6I |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,272 (GRCm39) |
M108L |
probably benign |
Het |
| Or5p52 |
T |
A |
7: 107,502,446 (GRCm39) |
I174K |
probably damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,308 (GRCm39) |
N434I |
probably damaging |
Het |
| Pigq |
A |
T |
17: 26,155,736 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
G |
1: 194,471,145 (GRCm39) |
V972G |
probably damaging |
Het |
| Psma3 |
G |
A |
12: 71,035,269 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,703,975 (GRCm39) |
T1336A |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,720,598 (GRCm39) |
D258G |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,083,252 (GRCm39) |
I54T |
probably damaging |
Het |
| Sh2d7 |
A |
T |
9: 54,448,633 (GRCm39) |
Y218F |
probably benign |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,371,274 (GRCm39) |
I137F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,683,600 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Smc6 |
A |
T |
12: 11,339,165 (GRCm39) |
I334L |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,230,380 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,401 (GRCm39) |
L137P |
probably damaging |
Het |
| Tcam1 |
A |
T |
11: 106,176,252 (GRCm39) |
D326V |
possibly damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,797 (GRCm39) |
V461D |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,498,325 (GRCm39) |
C351* |
probably null |
Het |
| Trim66 |
T |
A |
7: 109,054,199 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
G |
T |
10: 71,097,940 (GRCm39) |
H32N |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,793,736 (GRCm39) |
|
probably benign |
Het |
| Vma21 |
C |
T |
X: 70,863,763 (GRCm39) |
T81M |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,345 (GRCm39) |
S46P |
probably benign |
Het |
| Wars1 |
T |
C |
12: 108,831,944 (GRCm39) |
S374G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,326 (GRCm39) |
D277G |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,123,209 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- CAGGGCCACATTTTCTGTCAACAAG -3'
(R):5'- GCTTCTACATACAGCGGGTGAAGTC -3'
Sequencing Primer
(F):5'- AAGCTTCCTAGCTGACTCTACAG -3'
(R):5'- AAGTCAGGTTGTCGTTTACCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation