Incidental Mutation 'R7081:Mypn'
| ID |
549545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mypn
|
| Ensembl Gene |
ENSMUSG00000020067 |
| Gene Name |
myopalladin |
| Synonyms |
1110056A04Rik |
| MMRRC Submission |
045175-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R7081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62970737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 889
(F889S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
|
| AlphaFold |
Q5DTJ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095580
AA Change: F889S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093240
Gene: ENSMUSG00000020067
AA Change: F889S
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
A |
11: 84,361,951 (GRCm39) |
H337L |
possibly damaging |
Het |
| Abcb4 |
T |
A |
5: 8,984,263 (GRCm39) |
N664K |
probably benign |
Het |
| Adh7 |
A |
G |
3: 137,934,606 (GRCm39) |
D343G |
probably benign |
Het |
| Als2cl |
G |
A |
9: 110,723,650 (GRCm39) |
R682Q |
possibly damaging |
Het |
| Angptl6 |
A |
C |
9: 20,786,644 (GRCm39) |
I334R |
probably damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,978,863 (GRCm39) |
N101D |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 15,047,547 (GRCm39) |
Q1137* |
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,881 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
T |
C |
5: 97,212,820 (GRCm39) |
S568P |
unknown |
Het |
| C4b |
A |
C |
17: 34,954,417 (GRCm39) |
F917L |
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,576,129 (GRCm39) |
V168E |
possibly damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,264,146 (GRCm39) |
I543F |
probably benign |
Het |
| Cd36 |
T |
C |
5: 18,019,702 (GRCm39) |
D133G |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,106,948 (GRCm39) |
V1911A |
unknown |
Het |
| Cplx4 |
A |
T |
18: 66,100,538 (GRCm39) |
|
probably null |
Het |
| Cyp1a2 |
A |
T |
9: 57,586,272 (GRCm39) |
D415E |
possibly damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,318,183 (GRCm39) |
I388T |
probably damaging |
Het |
| Dnajc5b |
T |
C |
3: 19,601,025 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,671,285 (GRCm39) |
I35F |
probably damaging |
Het |
| Efna4 |
A |
T |
3: 89,241,601 (GRCm39) |
L206Q |
unknown |
Het |
| Eif2a |
T |
C |
3: 58,449,139 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
G |
13: 49,063,801 (GRCm39) |
F612L |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,990,990 (GRCm39) |
L23P |
probably damaging |
Het |
| Fcamr |
A |
T |
1: 130,740,949 (GRCm39) |
E456V |
probably damaging |
Het |
| Fkbp8 |
G |
A |
8: 70,983,644 (GRCm39) |
R106H |
probably benign |
Het |
| Galr2 |
T |
A |
11: 116,173,874 (GRCm39) |
L168Q |
probably damaging |
Het |
| Gm11111 |
C |
T |
5: 98,701,399 (GRCm39) |
S22L |
unknown |
Het |
| Gnpat |
T |
C |
8: 125,590,008 (GRCm39) |
F11S |
possibly damaging |
Het |
| H2-T24 |
A |
T |
17: 36,328,344 (GRCm39) |
D46E |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Ifna12 |
T |
C |
4: 88,521,440 (GRCm39) |
R36G |
probably damaging |
Het |
| Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,631,373 (GRCm39) |
D683E |
probably benign |
Het |
| Krit1 |
T |
C |
5: 3,873,651 (GRCm39) |
Y477H |
possibly damaging |
Het |
| Lipm |
T |
A |
19: 34,098,723 (GRCm39) |
V399D |
possibly damaging |
Het |
| Lrguk |
A |
T |
6: 34,079,074 (GRCm39) |
T770S |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,781 (GRCm39) |
N2638S |
unknown |
Het |
| Lrrc40 |
T |
C |
3: 157,742,442 (GRCm39) |
V27A |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,690,574 (GRCm39) |
V355A |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,091,422 (GRCm39) |
I128V |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,789 (GRCm39) |
D289G |
probably benign |
Het |
| Ndufv3 |
C |
T |
17: 31,746,407 (GRCm39) |
P99L |
possibly damaging |
Het |
| Nlrp10 |
A |
C |
7: 108,523,855 (GRCm39) |
S542A |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,331,477 (GRCm39) |
D718E |
possibly damaging |
Het |
| Ntng1 |
T |
A |
3: 109,759,105 (GRCm39) |
I355F |
probably benign |
Het |
| Nup210 |
A |
G |
6: 91,037,647 (GRCm39) |
V742A |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,798 (GRCm39) |
V82A |
possibly damaging |
Het |
| Olig2 |
T |
A |
16: 91,023,307 (GRCm39) |
L7Q |
probably damaging |
Het |
| Or51f23b |
A |
T |
7: 102,402,395 (GRCm39) |
I247N |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,939 (GRCm39) |
F61I |
probably damaging |
Het |
| Parpbp |
A |
T |
10: 87,929,517 (GRCm39) |
W444R |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
| Pramel16 |
T |
C |
4: 143,675,848 (GRCm39) |
D326G |
probably damaging |
Het |
| Pramel56 |
T |
A |
5: 95,022,641 (GRCm39) |
N107K |
possibly damaging |
Het |
| Prrc2b |
A |
T |
2: 32,103,075 (GRCm39) |
Q851L |
probably benign |
Het |
| Psg21 |
C |
T |
7: 18,388,774 (GRCm39) |
W106* |
probably null |
Het |
| Rab18 |
T |
G |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
| Rbm19 |
T |
A |
5: 120,261,216 (GRCm39) |
|
probably null |
Het |
| Rhobtb1 |
T |
C |
10: 69,102,127 (GRCm39) |
V136A |
probably benign |
Het |
| Rsph4a |
G |
A |
10: 33,785,189 (GRCm39) |
V367I |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,781,391 (GRCm39) |
N1161S |
probably benign |
Het |
| Sgcd |
C |
A |
11: 47,016,428 (GRCm39) |
G145* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,001,755 (GRCm39) |
K134R |
probably null |
Het |
| Slc9b2 |
A |
G |
3: 135,027,698 (GRCm39) |
E108G |
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,531,706 (GRCm39) |
S317T |
probably benign |
Het |
| Stra8 |
T |
A |
6: 34,911,302 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,928,376 (GRCm39) |
V71A |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,211,264 (GRCm39) |
D227G |
possibly damaging |
Het |
| Vnn1 |
T |
A |
10: 23,770,903 (GRCm39) |
L44M |
possibly damaging |
Het |
| Wdr20 |
G |
A |
12: 110,769,884 (GRCm39) |
V160I |
possibly damaging |
Het |
| Zfand4 |
T |
A |
6: 116,292,581 (GRCm39) |
N667K |
possibly damaging |
Het |
| Zfp1005 |
A |
G |
2: 150,110,189 (GRCm39) |
H293R |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,609,723 (GRCm39) |
V1080A |
possibly damaging |
Het |
| Zhx1 |
C |
T |
15: 57,917,734 (GRCm39) |
V171I |
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 |
|
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'- CATTTTCTGTCAACAAGCTTCCTAG -3'
(R):5'- GACAAGGGGCATGATTTGTG -3'
Sequencing Primer
(F):5'- CTAGCTGACTCTACAGTTGAAGCTG -3'
(R):5'- TGCATAGCTAGTTCAAGGCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation