Incidental Mutation 'R0365:Nup155'
| ID |
36374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup155
|
| Ensembl Gene |
ENSMUSG00000022142 |
| Gene Name |
nucleoporin 155 |
| Synonyms |
D930027M19Rik |
| MMRRC Submission |
038571-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
8138757-8190731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8161027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 571
(R571W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163765]
[ENSMUST00000230017]
|
| AlphaFold |
Q99P88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163765
AA Change: R571W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: R571W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
Pfam:Nucleoporin_N
|
77 |
510 |
3.5e-105 |
PFAM |
|
low complexity region
|
600 |
619 |
N/A |
INTRINSIC |
|
Pfam:Nucleoporin_C
|
678 |
1221 |
3.6e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229466
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230017
AA Change: R571W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(18) : Gene trapped(18) |
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,088 (GRCm39) |
M173K |
probably benign |
Het |
| Abcb1b |
T |
A |
5: 8,856,009 (GRCm39) |
F39Y |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,566,177 (GRCm39) |
Y290C |
probably damaging |
Het |
| Alg12 |
A |
C |
15: 88,700,352 (GRCm39) |
I28R |
possibly damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,984 (GRCm39) |
D393V |
probably damaging |
Het |
| Anxa5 |
A |
T |
3: 36,511,618 (GRCm39) |
V153D |
probably damaging |
Het |
| Arl5a |
T |
C |
2: 52,306,141 (GRCm39) |
M64V |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,516,118 (GRCm39) |
L1236P |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,297,713 (GRCm39) |
S424P |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,510,617 (GRCm39) |
S239R |
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,268,985 (GRCm39) |
V1278A |
probably benign |
Het |
| Cbfa2t3 |
G |
T |
8: 123,361,799 (GRCm39) |
L408I |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,419,250 (GRCm39) |
N227K |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 110,036,486 (GRCm39) |
Q555H |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,215,094 (GRCm39) |
N1412I |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,866,105 (GRCm39) |
S302P |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,782,317 (GRCm39) |
E1563D |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,912,753 (GRCm39) |
E107V |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
| Coro6 |
A |
T |
11: 77,354,916 (GRCm39) |
I60F |
probably benign |
Het |
| Dennd2b |
A |
T |
7: 109,138,156 (GRCm39) |
V753E |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,573,400 (GRCm39) |
N245K |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,345,119 (GRCm39) |
N286K |
probably damaging |
Het |
| Fam83g |
G |
T |
11: 61,593,935 (GRCm39) |
E490* |
probably null |
Het |
| Gnb1l |
T |
C |
16: 18,371,211 (GRCm39) |
I234T |
possibly damaging |
Het |
| Gtf3a |
T |
A |
5: 146,885,747 (GRCm39) |
W53R |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,276 (GRCm39) |
I415V |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,767,527 (GRCm39) |
V293A |
probably damaging |
Het |
| Il17ra |
G |
A |
6: 120,455,410 (GRCm39) |
V340M |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,428,731 (GRCm39) |
H76Q |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,264 (GRCm39) |
L390P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,479 (GRCm39) |
D443G |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,640,064 (GRCm39) |
R86S |
probably damaging |
Het |
| Lrrc24 |
G |
A |
15: 76,599,984 (GRCm39) |
A385V |
probably benign |
Het |
| Maea |
C |
T |
5: 33,517,787 (GRCm39) |
A109V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,570,507 (GRCm39) |
Y1188F |
probably benign |
Het |
| Nccrp1 |
T |
C |
7: 28,243,977 (GRCm39) |
D202G |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,901,935 (GRCm39) |
L177Q |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,539,188 (GRCm39) |
M789K |
probably benign |
Het |
| Odad2 |
T |
A |
18: 7,217,800 (GRCm39) |
H638L |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,440 (GRCm39) |
F195S |
probably benign |
Het |
| Or5p50 |
A |
T |
7: 107,422,124 (GRCm39) |
L184* |
probably null |
Het |
| Or8d2b |
A |
T |
9: 38,788,481 (GRCm39) |
H3L |
probably benign |
Het |
| Pgpep1 |
G |
T |
8: 71,105,174 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
C |
T |
8: 117,748,589 (GRCm39) |
V1861M |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Plin4 |
G |
T |
17: 56,411,667 (GRCm39) |
T788K |
possibly damaging |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,902 (GRCm39) |
D16G |
possibly damaging |
Het |
| Pramel22 |
G |
T |
4: 143,382,071 (GRCm39) |
Y208* |
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,426,513 (GRCm39) |
I424N |
probably damaging |
Het |
| Psen2 |
T |
A |
1: 180,056,410 (GRCm39) |
I396F |
probably damaging |
Het |
| Psip1 |
C |
T |
4: 83,403,949 (GRCm39) |
|
probably null |
Het |
| Ptprd |
G |
A |
4: 76,055,083 (GRCm39) |
T215I |
probably damaging |
Het |
| Rec114 |
A |
G |
9: 58,648,822 (GRCm39) |
S2P |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,378,410 (GRCm39) |
I1181T |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,527,118 (GRCm39) |
M1436T |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,316,937 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Rorc |
G |
A |
3: 94,296,069 (GRCm39) |
G83S |
probably damaging |
Het |
| Ryr2 |
T |
G |
13: 11,683,725 (GRCm39) |
Q3113P |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 44,003,401 (GRCm39) |
S1698P |
possibly damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,762,828 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
A |
T |
4: 111,749,033 (GRCm39) |
Y98* |
probably null |
Het |
| Smc6 |
T |
C |
12: 11,333,175 (GRCm39) |
|
probably null |
Het |
| Sptb |
G |
T |
12: 76,647,157 (GRCm39) |
F1959L |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,621,610 (GRCm39) |
H984L |
possibly damaging |
Het |
| Ssc5d |
T |
A |
7: 4,931,466 (GRCm39) |
C224* |
probably null |
Het |
| Ston2 |
A |
T |
12: 91,614,634 (GRCm39) |
H591Q |
probably benign |
Het |
| Tbx3 |
C |
T |
5: 119,813,315 (GRCm39) |
A222V |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,321,886 (GRCm39) |
|
probably null |
Het |
| Usp9y |
T |
C |
Y: 1,364,732 (GRCm39) |
D1027G |
probably damaging |
Het |
| Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,637,462 (GRCm39) |
E74G |
possibly damaging |
Het |
| Zwint |
C |
A |
10: 72,493,127 (GRCm39) |
S223* |
probably null |
Het |
|
| Other mutations in Nup155 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Nup155
|
APN |
15 |
8,150,939 (GRCm39) |
splice site |
probably benign |
|
|
IGL00426:Nup155
|
APN |
15 |
8,186,278 (GRCm39) |
makesense |
probably null |
|
|
IGL00765:Nup155
|
APN |
15 |
8,182,712 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00936:Nup155
|
APN |
15 |
8,157,889 (GRCm39) |
splice site |
probably benign |
|
|
IGL01124:Nup155
|
APN |
15 |
8,183,163 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01739:Nup155
|
APN |
15 |
8,165,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02013:Nup155
|
APN |
15 |
8,143,132 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02066:Nup155
|
APN |
15 |
8,187,250 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02231:Nup155
|
APN |
15 |
8,173,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02246:Nup155
|
APN |
15 |
8,172,486 (GRCm39) |
missense |
probably benign |
|
|
IGL02289:Nup155
|
APN |
15 |
8,160,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Nup155
|
APN |
15 |
8,138,955 (GRCm39) |
missense |
probably benign |
|
|
IGL02749:Nup155
|
APN |
15 |
8,163,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02813:Nup155
|
APN |
15 |
8,159,605 (GRCm39) |
splice site |
probably benign |
|
|
IGL03102:Nup155
|
APN |
15 |
8,176,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8930:Nup155
|
UTSW |
15 |
8,187,142 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02835:Nup155
|
UTSW |
15 |
8,172,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Nup155
|
UTSW |
15 |
8,176,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0586:Nup155
|
UTSW |
15 |
8,159,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0764:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Nup155
|
UTSW |
15 |
8,175,071 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0844:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1085:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1137:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1203:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Nup155
|
UTSW |
15 |
8,146,822 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1385:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Nup155
|
UTSW |
15 |
8,141,890 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1611:Nup155
|
UTSW |
15 |
8,159,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Nup155
|
UTSW |
15 |
8,184,464 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1863:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Nup155
|
UTSW |
15 |
8,145,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Nup155
|
UTSW |
15 |
8,165,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2024:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Nup155
|
UTSW |
15 |
8,187,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Nup155
|
UTSW |
15 |
8,172,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Nup155
|
UTSW |
15 |
8,150,951 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2921:Nup155
|
UTSW |
15 |
8,183,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2936:Nup155
|
UTSW |
15 |
8,172,533 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3108:Nup155
|
UTSW |
15 |
8,146,790 (GRCm39) |
missense |
probably null |
1.00 |
|
R3161:Nup155
|
UTSW |
15 |
8,177,867 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3162:Nup155
|
UTSW |
15 |
8,177,867 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3162:Nup155
|
UTSW |
15 |
8,177,867 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R3522:Nup155
|
UTSW |
15 |
8,186,162 (GRCm39) |
splice site |
probably benign |
|
|
R4423:Nup155
|
UTSW |
15 |
8,150,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4451:Nup155
|
UTSW |
15 |
8,180,366 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4498:Nup155
|
UTSW |
15 |
8,183,157 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4780:Nup155
|
UTSW |
15 |
8,187,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4822:Nup155
|
UTSW |
15 |
8,158,010 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5013:Nup155
|
UTSW |
15 |
8,153,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5064:Nup155
|
UTSW |
15 |
8,165,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Nup155
|
UTSW |
15 |
8,139,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5406:Nup155
|
UTSW |
15 |
8,183,122 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5551:Nup155
|
UTSW |
15 |
8,177,817 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5588:Nup155
|
UTSW |
15 |
8,148,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5977:Nup155
|
UTSW |
15 |
8,159,721 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6035:Nup155
|
UTSW |
15 |
8,173,577 (GRCm39) |
missense |
probably benign |
|
|
R6035:Nup155
|
UTSW |
15 |
8,173,577 (GRCm39) |
missense |
probably benign |
|
|
R6036:Nup155
|
UTSW |
15 |
8,157,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6036:Nup155
|
UTSW |
15 |
8,157,895 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6085:Nup155
|
UTSW |
15 |
8,177,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:Nup155
|
UTSW |
15 |
8,139,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6232:Nup155
|
UTSW |
15 |
8,138,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6257:Nup155
|
UTSW |
15 |
8,180,282 (GRCm39) |
nonsense |
probably null |
|
|
R6262:Nup155
|
UTSW |
15 |
8,186,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6267:Nup155
|
UTSW |
15 |
8,182,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Nup155
|
UTSW |
15 |
8,182,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Nup155
|
UTSW |
15 |
8,157,922 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6303:Nup155
|
UTSW |
15 |
8,147,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Nup155
|
UTSW |
15 |
8,147,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6763:Nup155
|
UTSW |
15 |
8,165,379 (GRCm39) |
nonsense |
probably null |
|
|
R6958:Nup155
|
UTSW |
15 |
8,176,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7088:Nup155
|
UTSW |
15 |
8,186,177 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7313:Nup155
|
UTSW |
15 |
8,184,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7451:Nup155
|
UTSW |
15 |
8,175,091 (GRCm39) |
nonsense |
probably null |
|
|
R7560:Nup155
|
UTSW |
15 |
8,184,531 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7633:Nup155
|
UTSW |
15 |
8,138,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7670:Nup155
|
UTSW |
15 |
8,183,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7726:Nup155
|
UTSW |
15 |
8,151,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Nup155
|
UTSW |
15 |
8,145,926 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7889:Nup155
|
UTSW |
15 |
8,150,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7899:Nup155
|
UTSW |
15 |
8,148,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Nup155
|
UTSW |
15 |
8,145,926 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8429:Nup155
|
UTSW |
15 |
8,141,904 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8467:Nup155
|
UTSW |
15 |
8,151,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8507:Nup155
|
UTSW |
15 |
8,177,044 (GRCm39) |
nonsense |
probably null |
|
|
R8860:Nup155
|
UTSW |
15 |
8,159,640 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8994:Nup155
|
UTSW |
15 |
8,172,645 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9046:Nup155
|
UTSW |
15 |
8,157,919 (GRCm39) |
frame shift |
probably null |
|
|
R9086:Nup155
|
UTSW |
15 |
8,177,830 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9500:Nup155
|
UTSW |
15 |
8,141,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF003:Nup155
|
UTSW |
15 |
8,148,660 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF048:Nup155
|
UTSW |
15 |
8,148,660 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Nup155
|
UTSW |
15 |
8,149,973 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGTTAAACTTTACTTCTGGGCTGT -3'
(R):5'- TCCCTGTCTTTAAACAAACACTGCCAA -3'
Sequencing Primer
(F):5'- ACTTCTGGGCTGTTTGCTTTC -3'
(R):5'- gctcacaactgcctaaaactg -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation