Incidental Mutation 'R4995:Mypn'
| ID |
512168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mypn
|
| Ensembl Gene |
ENSMUSG00000020067 |
| Gene Name |
myopalladin |
| Synonyms |
1110056A04Rik |
| MMRRC Submission |
042589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4995 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62951574-63039731 bp(-) (GRCm39) |
| Type of Mutation |
splice site (61 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 62955747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
[ENSMUST00000218978]
|
| AlphaFold |
Q5DTJ9 |
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218978
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
A |
2: 19,498,995 (GRCm39) |
Q333* |
probably null |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acvrl1 |
G |
A |
15: 101,033,741 (GRCm39) |
R141H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,932,436 (GRCm39) |
F158L |
possibly damaging |
Het |
| Aldoart2 |
C |
T |
12: 55,613,038 (GRCm39) |
T321M |
probably benign |
Het |
| Ap3m2 |
A |
G |
8: 23,293,792 (GRCm39) |
V86A |
probably benign |
Het |
| Arhgef19 |
T |
A |
4: 140,974,826 (GRCm39) |
|
probably null |
Het |
| Bcl2l12 |
T |
G |
7: 44,643,615 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,945,391 (GRCm39) |
Q2501R |
probably damaging |
Het |
| C230029F24Rik |
A |
T |
1: 49,377,295 (GRCm39) |
|
noncoding transcript |
Het |
| C7 |
C |
T |
15: 5,079,074 (GRCm39) |
G78D |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,538 (GRCm39) |
T135A |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,065,108 (GRCm39) |
M740T |
possibly damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,037 (GRCm39) |
V446A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,822,112 (GRCm39) |
R1735L |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,830,236 (GRCm39) |
D135G |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,687,246 (GRCm39) |
T19A |
probably damaging |
Het |
| Chic2 |
A |
T |
5: 75,204,865 (GRCm39) |
V32D |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,120 (GRCm39) |
K780E |
probably benign |
Het |
| Col8a2 |
A |
T |
4: 126,204,581 (GRCm39) |
D197V |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,024,000 (GRCm39) |
V372E |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,418,747 (GRCm39) |
V26M |
probably damaging |
Het |
| Ddx5 |
G |
A |
11: 106,676,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,408,725 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,135,747 (GRCm39) |
S1188R |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,051,073 (GRCm39) |
H493L |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,090,792 (GRCm39) |
*1217K |
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,142,336 (GRCm39) |
|
probably benign |
Het |
| Etfdh |
T |
C |
3: 79,513,095 (GRCm39) |
D376G |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,842,980 (GRCm39) |
Q1088R |
probably benign |
Het |
| Fbxw16 |
G |
T |
9: 109,270,318 (GRCm39) |
T141N |
probably damaging |
Het |
| Fgf11 |
G |
A |
11: 69,689,585 (GRCm39) |
H138Y |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,418 (GRCm39) |
E154G |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,296,274 (GRCm39) |
V3601D |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,270,367 (GRCm39) |
S380* |
probably null |
Het |
| Klrg1 |
T |
A |
6: 122,255,234 (GRCm39) |
D66V |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,550 (GRCm39) |
A633V |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,894,467 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrc58 |
T |
G |
16: 37,697,418 (GRCm39) |
C165G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,371 (GRCm39) |
V557A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,262 (GRCm39) |
|
probably benign |
Het |
| Med13l |
C |
A |
5: 118,869,014 (GRCm39) |
P754Q |
possibly damaging |
Het |
| Mga |
C |
T |
2: 119,763,063 (GRCm39) |
R1240* |
probably null |
Het |
| Mgat5b |
T |
A |
11: 116,865,025 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,209 (GRCm39) |
D1572G |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,754,214 (GRCm38) |
S1363T |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,332 (GRCm39) |
S1306T |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,908,258 (GRCm39) |
V2005A |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,260,554 (GRCm39) |
D571N |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,731 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
T |
2: 25,096,208 (GRCm39) |
D300E |
probably benign |
Het |
| Nicol1 |
G |
A |
5: 34,142,270 (GRCm39) |
R79H |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,223,663 (GRCm39) |
T460M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,482 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4e5 |
A |
T |
14: 52,727,988 (GRCm39) |
C61* |
probably null |
Het |
| Or52n2c |
T |
A |
7: 104,574,942 (GRCm39) |
T10S |
probably benign |
Het |
| Or52z15 |
T |
A |
7: 103,332,574 (GRCm39) |
D206E |
probably damaging |
Het |
| Pcdha11 |
C |
T |
18: 37,144,080 (GRCm39) |
T57M |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,808,593 (GRCm39) |
I458N |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,700,653 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,532,879 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,259 (GRCm39) |
F397S |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,806,743 (GRCm39) |
|
probably null |
Het |
| Rsl1 |
A |
G |
13: 67,330,313 (GRCm39) |
T254A |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,646 (GRCm39) |
Q574R |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,685,849 (GRCm39) |
|
probably null |
Het |
| St6galnac4 |
G |
A |
2: 32,484,075 (GRCm39) |
G91D |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,031,465 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
A |
2: 23,983,872 (GRCm39) |
K188N |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,682,172 (GRCm39) |
M2486K |
possibly damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,593,123 (GRCm39) |
V119G |
possibly damaging |
Het |
| Tpgs1 |
A |
T |
10: 79,505,325 (GRCm39) |
N28Y |
probably benign |
Het |
| U2surp |
A |
C |
9: 95,344,847 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,869 (GRCm39) |
N459S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,693 (GRCm39) |
S624G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,826,603 (GRCm39) |
T1415A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,154 (GRCm39) |
P147S |
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 |
|
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 |
|
| Posted On |
2018-04-10 |
Incidental Mutation