Incidental Mutation 'R7853:Mypn'
ID |
607079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mypn
|
Ensembl Gene |
ENSMUSG00000020067 |
Gene Name |
myopalladin |
Synonyms |
1110056A04Rik |
MMRRC Submission |
045906-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R7853 (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 A
at 62981652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 643
(I643F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095580]
|
AlphaFold |
Q5DTJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095580
AA Change: I643F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000093240 Gene: ENSMUSG00000020067 AA Change: I643F
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: 98.8%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
G |
2: 151,315,600 (GRCm39) |
I26T |
probably damaging |
Het |
Aadacl4 |
G |
T |
4: 144,344,592 (GRCm39) |
A123S |
probably benign |
Het |
Adamts20 |
A |
C |
15: 94,243,871 (GRCm39) |
C619G |
probably damaging |
Het |
Ahcyl1 |
C |
A |
3: 107,575,604 (GRCm39) |
V394L |
probably benign |
Het |
Ankrd17 |
A |
C |
5: 90,386,825 (GRCm39) |
L2378V |
possibly damaging |
Het |
B3gnt3 |
T |
C |
8: 72,145,357 (GRCm39) |
Y337C |
probably damaging |
Het |
Bcl10 |
A |
G |
3: 145,630,266 (GRCm39) |
K18R |
possibly damaging |
Het |
Calcr |
G |
A |
6: 3,707,499 (GRCm39) |
A267V |
probably benign |
Het |
Ces1d |
C |
T |
8: 93,901,695 (GRCm39) |
G425S |
probably benign |
Het |
Col1a1 |
G |
T |
11: 94,838,505 (GRCm39) |
R899L |
unknown |
Het |
Commd1 |
C |
T |
11: 22,906,532 (GRCm39) |
R168H |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,213,640 (GRCm39) |
S791P |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,151,884 (GRCm39) |
I58F |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,529,656 (GRCm39) |
K238N |
probably benign |
Het |
Dlgap4 |
A |
G |
2: 156,547,802 (GRCm39) |
D423G |
probably benign |
Het |
Eef1ece2 |
T |
A |
16: 20,463,010 (GRCm39) |
|
probably null |
Het |
Egln1 |
T |
C |
8: 125,675,256 (GRCm39) |
N180D |
probably benign |
Het |
Ehd1 |
T |
C |
19: 6,327,225 (GRCm39) |
F74S |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,970,881 (GRCm39) |
A350V |
probably damaging |
Het |
Fam186b |
T |
A |
15: 99,178,628 (GRCm39) |
I233F |
probably damaging |
Het |
Fam193a |
T |
G |
5: 34,597,473 (GRCm39) |
N91K |
probably benign |
Het |
Far1 |
T |
A |
7: 113,153,355 (GRCm39) |
N329K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,637,134 (GRCm39) |
S1111P |
probably damaging |
Het |
Fhl2 |
A |
G |
1: 43,180,984 (GRCm39) |
S69P |
probably damaging |
Het |
Flg2 |
C |
A |
3: 93,128,054 (GRCm39) |
P2322Q |
unknown |
Het |
Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
Fos |
T |
A |
12: 85,522,792 (GRCm39) |
S235T |
probably benign |
Het |
Foxf1 |
T |
A |
8: 121,811,438 (GRCm39) |
S101T |
probably damaging |
Het |
Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
Ggps1 |
T |
C |
13: 14,229,034 (GRCm39) |
I50V |
probably benign |
Het |
Gkn2 |
A |
G |
6: 87,355,255 (GRCm39) |
T155A |
probably benign |
Het |
Gna12 |
C |
T |
5: 140,746,449 (GRCm39) |
C332Y |
probably damaging |
Het |
Hc |
T |
A |
2: 34,900,045 (GRCm39) |
Y1096F |
probably damaging |
Het |
Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
Hsd17b8 |
T |
G |
17: 34,246,411 (GRCm39) |
D117A |
probably benign |
Het |
Ifi206 |
A |
T |
1: 173,299,100 (GRCm39) |
Y835* |
probably null |
Het |
Ighv13-2 |
T |
G |
12: 114,321,544 (GRCm39) |
E65A |
probably damaging |
Het |
Kif5a |
A |
T |
10: 127,071,537 (GRCm39) |
Y770* |
probably null |
Het |
Lfng |
A |
G |
5: 140,593,384 (GRCm39) |
S72G |
probably benign |
Het |
Lipo2 |
C |
T |
19: 33,737,344 (GRCm39) |
|
probably benign |
Het |
Lnpep |
C |
T |
17: 17,783,109 (GRCm39) |
S564N |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,025 (GRCm39) |
L500* |
probably null |
Het |
Mllt6 |
G |
A |
11: 97,561,142 (GRCm39) |
V277I |
probably benign |
Het |
Mroh5 |
C |
T |
15: 73,663,189 (GRCm39) |
D192N |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,795,672 (GRCm39) |
V106D |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,213,575 (GRCm39) |
N669D |
possibly damaging |
Het |
Or14j5 |
C |
G |
17: 38,161,714 (GRCm39) |
T77R |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,573 (GRCm39) |
C127S |
probably damaging |
Het |
Or5g26 |
T |
C |
2: 85,494,689 (GRCm39) |
T30A |
probably benign |
Het |
Or8s8 |
T |
C |
15: 98,354,866 (GRCm39) |
V225A |
probably benign |
Het |
Osbpl10 |
A |
G |
9: 115,036,726 (GRCm39) |
T241A |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,839 (GRCm39) |
E1128K |
possibly damaging |
Het |
Plch1 |
C |
A |
3: 63,681,068 (GRCm39) |
M186I |
probably benign |
Het |
Pon3 |
A |
C |
6: 5,236,911 (GRCm39) |
L152R |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,263,905 (GRCm39) |
P587L |
unknown |
Het |
Psma2 |
T |
A |
13: 14,799,832 (GRCm39) |
I192N |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,389,923 (GRCm39) |
F30L |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,576,299 (GRCm39) |
A622V |
possibly damaging |
Het |
Scgb2b11 |
T |
A |
7: 31,908,807 (GRCm39) |
N98Y |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,212 (GRCm39) |
L511P |
probably damaging |
Het |
Sirpb1c |
C |
T |
3: 15,887,156 (GRCm39) |
V228M |
probably damaging |
Het |
Smpd4 |
T |
A |
16: 17,460,605 (GRCm39) |
Y804N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,747,524 (GRCm39) |
D75G |
not run |
Het |
Sycp3 |
A |
C |
10: 88,302,368 (GRCm39) |
K119N |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,078,278 (GRCm39) |
L4703P |
probably damaging |
Het |
Tex12 |
C |
G |
9: 50,470,523 (GRCm39) |
L20F |
possibly damaging |
Het |
Them5 |
T |
A |
3: 94,250,603 (GRCm39) |
Y55* |
probably null |
Het |
Tmem43 |
A |
T |
6: 91,458,968 (GRCm39) |
D213V |
probably benign |
Het |
Tnfrsf10b |
A |
C |
14: 70,005,239 (GRCm39) |
Q44P |
unknown |
Het |
Trbv2 |
A |
T |
6: 41,024,836 (GRCm39) |
Q84L |
probably benign |
Het |
Trim2 |
C |
T |
3: 84,212,537 (GRCm39) |
|
probably benign |
Het |
Trim36 |
A |
G |
18: 46,305,558 (GRCm39) |
V475A |
probably benign |
Het |
Ttbk1 |
C |
A |
17: 46,758,269 (GRCm39) |
E788D |
probably benign |
Het |
Ttn |
T |
C |
2: 76,543,626 (GRCm39) |
D33120G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,576,256 (GRCm39) |
N24879I |
probably damaging |
Het |
Ube4a |
T |
A |
9: 44,864,308 (GRCm39) |
Q76L |
probably benign |
Het |
Vmn2r27 |
T |
A |
6: 124,168,980 (GRCm39) |
I717F |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,485,987 (GRCm39) |
K434E |
possibly damaging |
Het |
Vta1 |
T |
C |
10: 14,531,461 (GRCm39) |
T305A |
probably damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
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 |
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 |
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'- CCATGTAGGTCCCAGGTATTG -3'
(R):5'- CCAAACTTGAAGGGGTTCTGG -3'
Sequencing Primer
(F):5'- CATGTAGGTCCCAGGTATTGAATCTG -3'
(R):5'- GTTCTGGTGAACCATAATGAGCCC -3'
|
Posted On |
2019-12-20 |