Incidental Mutation 'R8750:Mypn'
ID |
663785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
068593-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R8750 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63003036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 367
(D367G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095580
AA Change: D367G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: D367G
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: 99.6%
- 20x: 98.6%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
G |
A |
12: 81,607,247 (GRCm39) |
Q172* |
probably null |
Het |
Ankib1 |
A |
G |
5: 3,752,890 (GRCm39) |
|
probably null |
Het |
Avpr1b |
C |
T |
1: 131,527,674 (GRCm39) |
R66C |
probably damaging |
Het |
Bbs7 |
A |
T |
3: 36,661,744 (GRCm39) |
C152S |
possibly damaging |
Het |
Cacna1a |
C |
A |
8: 85,285,784 (GRCm39) |
R810S |
probably damaging |
Het |
Ccdc17 |
G |
A |
4: 116,457,129 (GRCm39) |
A538T |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,285,080 (GRCm39) |
M89V |
probably benign |
Het |
Clec11a |
G |
T |
7: 43,955,323 (GRCm39) |
D157E |
probably benign |
Het |
Crtam |
A |
C |
9: 40,895,641 (GRCm39) |
D228E |
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,209 (GRCm39) |
I331V |
probably benign |
Het |
Cysltr2 |
T |
C |
14: 73,267,078 (GRCm39) |
I211V |
probably benign |
Het |
Dcaf13 |
T |
C |
15: 38,982,836 (GRCm39) |
S123P |
probably damaging |
Het |
Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,026,924 (GRCm39) |
L700Q |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,935,585 (GRCm39) |
S670L |
probably damaging |
Het |
Dsg2 |
A |
T |
18: 20,708,069 (GRCm39) |
I57F |
possibly damaging |
Het |
Dzip3 |
A |
C |
16: 48,801,338 (GRCm39) |
I62S |
probably damaging |
Het |
Ern1 |
A |
T |
11: 106,312,776 (GRCm39) |
S202T |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,350,206 (GRCm39) |
C517* |
probably null |
Het |
Galnt16 |
G |
A |
12: 80,644,879 (GRCm39) |
V501I |
probably benign |
Het |
Gmip |
A |
T |
8: 70,273,134 (GRCm39) |
R840S |
probably benign |
Het |
Gna14 |
A |
C |
19: 16,585,458 (GRCm39) |
I279L |
|
Het |
Irak2 |
T |
C |
6: 113,663,783 (GRCm39) |
M444T |
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,389,755 (GRCm39) |
|
probably null |
Het |
Kif5a |
T |
A |
10: 127,083,909 (GRCm39) |
H94L |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,698,215 (GRCm39) |
T636A |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,212 (GRCm39) |
S152P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,300,822 (GRCm39) |
M25L |
probably benign |
Het |
Map7d1 |
T |
C |
4: 126,132,315 (GRCm39) |
N286D |
probably benign |
Het |
Mfrp |
A |
G |
9: 44,014,802 (GRCm39) |
K280E |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,308,488 (GRCm39) |
L1100I |
probably damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,131,778 (GRCm39) |
I347V |
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,785,724 (GRCm39) |
C11* |
probably null |
Het |
Mx1 |
T |
C |
16: 97,252,917 (GRCm39) |
E401G |
probably damaging |
Het |
Nherf2 |
T |
C |
17: 24,861,233 (GRCm39) |
I176V |
probably damaging |
Het |
Or52a33 |
T |
A |
7: 103,289,059 (GRCm39) |
D96V |
probably damaging |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,929 (GRCm39) |
I246R |
probably damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,307 (GRCm39) |
L54H |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,177,369 (GRCm39) |
M567R |
probably damaging |
Het |
Plekhd1 |
A |
T |
12: 80,752,861 (GRCm39) |
D109V |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,875,424 (GRCm39) |
I17T |
probably benign |
Het |
Pot1b |
T |
C |
17: 55,973,537 (GRCm39) |
D421G |
probably benign |
Het |
Prkar1b |
A |
T |
5: 139,036,451 (GRCm39) |
W224R |
probably damaging |
Het |
Psmd1 |
C |
A |
1: 86,016,585 (GRCm39) |
R490S |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,013,659 (GRCm39) |
W521R |
probably damaging |
Het |
Rhpn2 |
C |
A |
7: 35,075,680 (GRCm39) |
Q286K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,486,602 (GRCm39) |
M411K |
probably benign |
Het |
Scpep1 |
A |
C |
11: 88,835,298 (GRCm39) |
V125G |
probably damaging |
Het |
Serpinb9c |
C |
T |
13: 33,335,793 (GRCm39) |
V248M |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,593 (GRCm39) |
N282I |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,758,514 (GRCm39) |
D159V |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,605,567 (GRCm39) |
V230A |
unknown |
Het |
Ssu2 |
T |
A |
6: 112,359,312 (GRCm39) |
I103F |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,815 (GRCm39) |
F453I |
probably damaging |
Het |
Tac2 |
C |
T |
10: 127,564,319 (GRCm39) |
P72L |
possibly damaging |
Het |
Tiparp |
T |
G |
3: 65,460,125 (GRCm39) |
S473R |
probably damaging |
Het |
Tmem135 |
C |
T |
7: 88,956,456 (GRCm39) |
R53Q |
probably damaging |
Het |
Tmem200b |
T |
A |
4: 131,649,406 (GRCm39) |
F109I |
probably damaging |
Het |
Tmem245 |
A |
T |
4: 56,886,141 (GRCm39) |
I825N |
probably damaging |
Het |
Tmem63c |
G |
T |
12: 87,103,306 (GRCm39) |
V27F |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,033,162 (GRCm39) |
I415M |
probably damaging |
Het |
Tut4 |
C |
G |
4: 108,407,940 (GRCm39) |
A1403G |
probably damaging |
Het |
Wfdc2 |
T |
A |
2: 164,407,818 (GRCm39) |
N162K |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,939 (GRCm39) |
I373F |
probably damaging |
Het |
Zfp27 |
T |
C |
7: 29,594,804 (GRCm39) |
N387S |
possibly damaging |
Het |
Zfp760 |
A |
T |
17: 21,941,356 (GRCm39) |
H177L |
possibly damaging |
Het |
Zg16 |
A |
G |
7: 126,649,518 (GRCm39) |
S148P |
possibly damaging |
Het |
Zic2 |
A |
G |
14: 122,714,129 (GRCm39) |
N348D |
probably benign |
Het |
Zswim4 |
A |
T |
8: 84,939,313 (GRCm39) |
D856E |
possibly 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 |
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 |
|
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'- ACGGAGTCTTCCCTGAATCC -3'
(R):5'- AACACTCACGAGGCTCATG -3'
Sequencing Primer
(F):5'- CCTGAATCCGCCCATGTATATG -3'
(R):5'- GCTCATGGCCTTGAAGGG -3'
|
Posted On |
2021-03-08 |