Incidental Mutation 'RF016:Snrnp200'
| ID |
603525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp200
|
| Ensembl Gene |
ENSMUSG00000003660 |
| Gene Name |
small nuclear ribonucleoprotein 200 (U5) |
| Synonyms |
Ascc3l1, A330064G03Rik, HELIC2, U5-200KD |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127050306-127082371 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127072476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1291
(L1291P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103220]
|
| AlphaFold |
Q6P4T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103220
AA Change: L1291P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099509
Gene: ENSMUSG00000003660
AA Change: L1291P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
373 |
386 |
N/A |
INTRINSIC |
|
DEXDc
|
477 |
690 |
2.63e-30 |
SMART |
|
AAA
|
495 |
680 |
5.77e-2 |
SMART |
|
HELICc
|
768 |
860 |
3.76e-17 |
SMART |
|
low complexity region
|
876 |
887 |
N/A |
INTRINSIC |
|
Sec63
|
981 |
1286 |
2.62e-128 |
SMART |
|
DEXDc
|
1324 |
1528 |
1.43e-31 |
SMART |
|
AAA
|
1342 |
1533 |
2.39e0 |
SMART |
|
HELICc
|
1607 |
1695 |
1.26e-9 |
SMART |
|
Sec63
|
1812 |
2124 |
1.39e-118 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: On February 19, 2002, this locus was switched from human to mouse. The source accession, Z70200.1, is almost identical to the mouse BAC clone AC074224, and it matches the mouse cDNA accession BC011390 as well. The human gene is LocusID 23020. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality before implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGCTGTGGC |
TGCTGTGGCGGCTGTGGC |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Amer3 |
A |
G |
1: 34,626,201 (GRCm39) |
I147V |
probably damaging |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGACGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
G |
A |
1: 75,172,477 (GRCm39) |
R259H |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,619,714 (GRCm39) |
V170A |
probably benign |
Het |
| Asb3 |
A |
G |
11: 31,011,407 (GRCm39) |
I267M |
possibly damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,185 (GRCm39) |
E1636G |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,996,319 (GRCm39) |
V4513F |
probably damaging |
Het |
| Blm |
CCTCCTCC |
CCTCCTCCTCCTACTCCTCC |
7: 80,162,674 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
G |
A |
8: 96,264,733 (GRCm39) |
R81H |
probably benign |
Het |
| Ccdc27 |
T |
C |
4: 154,120,567 (GRCm39) |
R410G |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,852,097 (GRCm39) |
V435A |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,759,317 (GRCm39) |
S15P |
unknown |
Het |
| Cntrl |
T |
C |
2: 35,009,998 (GRCm39) |
V224A |
probably benign |
Het |
| Comtd1 |
T |
A |
14: 21,898,664 (GRCm39) |
Q56L |
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
AGGGA |
AGGGATGGGACAGACCCACTGCCCCGGGA |
9: 86,922,497 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGTGACAGACACACTGCCCAGGGA |
TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGACAGACACACTGACCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
| Cyld |
T |
A |
8: 89,432,069 (GRCm39) |
Y22* |
probably null |
Het |
| Dbt |
T |
C |
3: 116,333,363 (GRCm39) |
Y278H |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,222 (GRCm39) |
H1070R |
probably damaging |
Het |
| Dek |
G |
T |
13: 47,251,662 (GRCm39) |
S248* |
probably null |
Het |
| Dixdc1 |
T |
C |
9: 50,604,941 (GRCm39) |
T300A |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,589 (GRCm39) |
S334T |
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,096,646 (GRCm39) |
N306S |
probably benign |
Het |
| Fcer1a |
T |
C |
1: 173,053,086 (GRCm39) |
I37V |
possibly damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,779,410 (GRCm39) |
Q639K |
probably benign |
Het |
| Ftdc1 |
T |
A |
16: 58,437,230 (GRCm39) |
N26I |
probably damaging |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,591 (GRCm39) |
|
probably null |
Het |
| Gins4 |
T |
C |
8: 23,722,626 (GRCm39) |
M98V |
probably benign |
Het |
| Gm8369 |
GTGTGTGT |
GTGTGTGTTTGTGTGT |
19: 11,489,118 (GRCm39) |
|
probably null |
Het |
| Grik1 |
G |
A |
16: 87,831,074 (GRCm39) |
S232L |
|
Het |
| Gsg1l |
A |
G |
7: 125,619,794 (GRCm39) |
|
probably null |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| H2-DMb1 |
A |
T |
17: 34,376,360 (GRCm39) |
S160C |
probably damaging |
Het |
| Hsdl2 |
GCAGCCACAGCTGCAG |
GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG |
4: 59,610,643 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TTTCCTTTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT |
9: 106,447,808 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,938,176 (GRCm39) |
T275S |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,350,660 (GRCm39) |
I158K |
probably damaging |
Het |
| Krtap28-10 |
TCCC |
TCCCGCACCC |
1: 83,019,844 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,339,549 (GRCm39) |
M1121L |
probably benign |
Het |
| M6pr |
C |
T |
6: 122,292,124 (GRCm39) |
A152V |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,379 (GRCm39) |
Y218C |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,396,925 (GRCm39) |
V26I |
|
Het |
| Mro |
CA |
CAAACTCGGA |
18: 74,003,035 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
T |
C |
9: 104,952,452 (GRCm39) |
V303A |
probably benign |
Het |
| Nefh |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,022 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TCACCTGGGGACT |
TCACCTGGGGACTCGGCCCCACCTGGGGACT |
11: 4,891,023 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
GGCTAACACCGC |
GGC |
14: 19,801,431 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA |
2: 119,458,082 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Or6d12 |
G |
T |
6: 116,493,004 (GRCm39) |
A89S |
probably benign |
Het |
| Ovol1 |
A |
G |
19: 5,603,640 (GRCm39) |
V87A |
probably benign |
Het |
| Pdpk1 |
T |
A |
17: 24,312,255 (GRCm39) |
E290D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,174 (GRCm39) |
S340T |
probably benign |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,869 (GRCm39) |
M338V |
probably benign |
Het |
| Psg28 |
G |
T |
7: 18,156,847 (GRCm39) |
L463I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,046,892 (GRCm39) |
D211G |
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,924,424 (GRCm39) |
H160R |
not run |
Het |
| Ranbp17 |
T |
C |
11: 33,279,511 (GRCm39) |
T582A |
probably damaging |
Het |
| Rasa1 |
G |
A |
13: 85,371,607 (GRCm39) |
T878I |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,802,163 (GRCm39) |
T224A |
probably benign |
Het |
| Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,072,744 (GRCm39) |
S531P |
probably benign |
Het |
| Sh3pxd2b |
TGCCTG |
TGCCTGCGCCTG |
11: 32,373,053 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CTCCCCAGTCCCGCAAGGCCAG |
CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG |
5: 77,164,255 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
C |
T |
2: 126,769,694 (GRCm39) |
R54Q |
probably benign |
Het |
| Sulf2 |
A |
T |
2: 165,924,523 (GRCm39) |
L521Q |
probably benign |
Het |
| Supv3l1 |
C |
A |
10: 62,273,287 (GRCm39) |
V317F |
possibly damaging |
Het |
| Tcof1 |
TCC |
TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,138 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,347 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,350 (GRCm39) |
|
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,740,522 (GRCm39) |
S182P |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,781,174 (GRCm39) |
V460A |
probably benign |
Het |
| Wdr97 |
A |
T |
15: 76,240,172 (GRCm39) |
I331F |
|
Het |
| Zfp598 |
CAACCAC |
CAACCACAACCAC |
17: 24,899,745 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Snrnp200 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Snrnp200
|
APN |
2 |
127,072,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01013:Snrnp200
|
APN |
2 |
127,074,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01073:Snrnp200
|
APN |
2 |
127,056,832 (GRCm39) |
splice site |
probably benign |
|
|
IGL01319:Snrnp200
|
APN |
2 |
127,072,047 (GRCm39) |
splice site |
probably benign |
|
|
IGL01597:Snrnp200
|
APN |
2 |
127,080,652 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01631:Snrnp200
|
APN |
2 |
127,080,744 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01646:Snrnp200
|
APN |
2 |
127,064,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02019:Snrnp200
|
APN |
2 |
127,074,825 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02158:Snrnp200
|
APN |
2 |
127,079,403 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02269:Snrnp200
|
APN |
2 |
127,071,911 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02288:Snrnp200
|
APN |
2 |
127,071,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Snrnp200
|
APN |
2 |
127,058,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02476:Snrnp200
|
APN |
2 |
127,059,408 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02613:Snrnp200
|
APN |
2 |
127,060,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02898:Snrnp200
|
APN |
2 |
127,058,676 (GRCm39) |
splice site |
probably benign |
|
|
IGL03108:Snrnp200
|
APN |
2 |
127,080,087 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03143:Snrnp200
|
APN |
2 |
127,071,962 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL03237:Snrnp200
|
APN |
2 |
127,075,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Snrnp200
|
UTSW |
2 |
127,070,469 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0012:Snrnp200
|
UTSW |
2 |
127,070,469 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0033:Snrnp200
|
UTSW |
2 |
127,079,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0033:Snrnp200
|
UTSW |
2 |
127,079,983 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0047:Snrnp200
|
UTSW |
2 |
127,076,874 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Snrnp200
|
UTSW |
2 |
127,076,874 (GRCm39) |
splice site |
probably benign |
|
|
R0057:Snrnp200
|
UTSW |
2 |
127,079,827 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0270:Snrnp200
|
UTSW |
2 |
127,074,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0626:Snrnp200
|
UTSW |
2 |
127,063,734 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0731:Snrnp200
|
UTSW |
2 |
127,068,065 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Snrnp200
|
UTSW |
2 |
127,070,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Snrnp200
|
UTSW |
2 |
127,078,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Snrnp200
|
UTSW |
2 |
127,060,331 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1444:Snrnp200
|
UTSW |
2 |
127,070,158 (GRCm39) |
splice site |
probably benign |
|
|
R1757:Snrnp200
|
UTSW |
2 |
127,074,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Snrnp200
|
UTSW |
2 |
127,058,656 (GRCm39) |
missense |
probably benign |
|
|
R1808:Snrnp200
|
UTSW |
2 |
127,060,948 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1808:Snrnp200
|
UTSW |
2 |
127,060,947 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1957:Snrnp200
|
UTSW |
2 |
127,058,095 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2007:Snrnp200
|
UTSW |
2 |
127,068,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Snrnp200
|
UTSW |
2 |
127,076,904 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2070:Snrnp200
|
UTSW |
2 |
127,079,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2070:Snrnp200
|
UTSW |
2 |
127,054,323 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2892:Snrnp200
|
UTSW |
2 |
127,073,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3236:Snrnp200
|
UTSW |
2 |
127,063,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3862:Snrnp200
|
UTSW |
2 |
127,075,019 (GRCm39) |
splice site |
probably benign |
|
|
R4028:Snrnp200
|
UTSW |
2 |
127,079,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4105:Snrnp200
|
UTSW |
2 |
127,069,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Snrnp200
|
UTSW |
2 |
127,064,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4471:Snrnp200
|
UTSW |
2 |
127,080,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4526:Snrnp200
|
UTSW |
2 |
127,071,022 (GRCm39) |
missense |
probably benign |
|
|
R4575:Snrnp200
|
UTSW |
2 |
127,076,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4710:Snrnp200
|
UTSW |
2 |
127,068,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Snrnp200
|
UTSW |
2 |
127,069,798 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4728:Snrnp200
|
UTSW |
2 |
127,059,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Snrnp200
|
UTSW |
2 |
127,074,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Snrnp200
|
UTSW |
2 |
127,053,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5082:Snrnp200
|
UTSW |
2 |
127,068,290 (GRCm39) |
nonsense |
probably null |
|
|
R5213:Snrnp200
|
UTSW |
2 |
127,073,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Snrnp200
|
UTSW |
2 |
127,073,607 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5486:Snrnp200
|
UTSW |
2 |
127,074,986 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5595:Snrnp200
|
UTSW |
2 |
127,067,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5598:Snrnp200
|
UTSW |
2 |
127,068,007 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5681:Snrnp200
|
UTSW |
2 |
127,067,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6207:Snrnp200
|
UTSW |
2 |
127,052,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6258:Snrnp200
|
UTSW |
2 |
127,060,343 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6259:Snrnp200
|
UTSW |
2 |
127,060,343 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6299:Snrnp200
|
UTSW |
2 |
127,064,081 (GRCm39) |
nonsense |
probably null |
|
|
R6434:Snrnp200
|
UTSW |
2 |
127,080,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Snrnp200
|
UTSW |
2 |
127,063,747 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6647:Snrnp200
|
UTSW |
2 |
127,068,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Snrnp200
|
UTSW |
2 |
127,071,085 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7027:Snrnp200
|
UTSW |
2 |
127,059,192 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7358:Snrnp200
|
UTSW |
2 |
127,063,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7436:Snrnp200
|
UTSW |
2 |
127,068,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7587:Snrnp200
|
UTSW |
2 |
127,069,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Snrnp200
|
UTSW |
2 |
127,063,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Snrnp200
|
UTSW |
2 |
127,071,022 (GRCm39) |
missense |
probably benign |
|
|
R7841:Snrnp200
|
UTSW |
2 |
127,078,754 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7863:Snrnp200
|
UTSW |
2 |
127,073,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Snrnp200
|
UTSW |
2 |
127,074,979 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8117:Snrnp200
|
UTSW |
2 |
127,071,051 (GRCm39) |
missense |
probably benign |
|
|
R8262:Snrnp200
|
UTSW |
2 |
127,068,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8551:Snrnp200
|
UTSW |
2 |
127,068,971 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8675:Snrnp200
|
UTSW |
2 |
127,074,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8754:Snrnp200
|
UTSW |
2 |
127,068,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Snrnp200
|
UTSW |
2 |
127,060,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8899:Snrnp200
|
UTSW |
2 |
127,078,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Snrnp200
|
UTSW |
2 |
127,068,902 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9030:Snrnp200
|
UTSW |
2 |
127,053,466 (GRCm39) |
intron |
probably benign |
|
|
R9260:Snrnp200
|
UTSW |
2 |
127,078,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Snrnp200
|
UTSW |
2 |
127,058,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9385:Snrnp200
|
UTSW |
2 |
127,079,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9478:Snrnp200
|
UTSW |
2 |
127,076,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9652:Snrnp200
|
UTSW |
2 |
127,067,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Snrnp200
|
UTSW |
2 |
127,067,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9733:Snrnp200
|
UTSW |
2 |
127,068,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Snrnp200
|
UTSW |
2 |
127,076,895 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1177:Snrnp200
|
UTSW |
2 |
127,077,951 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTAAAGATGGGAGAGGGC -3'
(R):5'- CCGCACTACACACTTATCACTAG -3'
Sequencing Primer
(F):5'- CTAAAGATGGGAGAGGGCTTTTTGC -3'
(R):5'- ACCCTGTCTCAGTTAGAAAAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation