Incidental Mutation 'R6243:Nup214'
| ID |
505355 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup214
|
| Ensembl Gene |
ENSMUSG00000001855 |
| Gene Name |
nucleoporin 214 |
| Synonyms |
CAN, D2H9S46E |
| MMRRC Submission |
044365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
31864446-31943204 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 31892944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 721
(A721S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065398]
[ENSMUST00000126301]
|
| AlphaFold |
Q80U93 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065398
AA Change: A721S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066492
Gene: ENSMUSG00000001855
AA Change: A721S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
138 |
178 |
2.48e0 |
SMART |
|
WD40
|
182 |
220 |
2.67e-1 |
SMART |
|
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
656 |
N/A |
INTRINSIC |
|
coiled coil region
|
853 |
881 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
969 |
993 |
1.13e-9 |
PROSPERO |
|
internal_repeat_1
|
985 |
1009 |
1.13e-9 |
PROSPERO |
|
low complexity region
|
1011 |
1026 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1111 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1215 |
N/A |
INTRINSIC |
|
low complexity region
|
1226 |
1248 |
N/A |
INTRINSIC |
|
low complexity region
|
1279 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1300 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1391 |
1426 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1454 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1505 |
N/A |
INTRINSIC |
|
low complexity region
|
1559 |
1573 |
N/A |
INTRINSIC |
|
low complexity region
|
1611 |
1642 |
N/A |
INTRINSIC |
|
low complexity region
|
1658 |
1670 |
N/A |
INTRINSIC |
|
low complexity region
|
1686 |
1715 |
N/A |
INTRINSIC |
|
low complexity region
|
1733 |
1748 |
N/A |
INTRINSIC |
|
low complexity region
|
1771 |
1783 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1832 |
N/A |
INTRINSIC |
|
low complexity region
|
1853 |
1872 |
N/A |
INTRINSIC |
|
low complexity region
|
1877 |
1886 |
N/A |
INTRINSIC |
|
low complexity region
|
1898 |
1910 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1934 |
N/A |
INTRINSIC |
|
low complexity region
|
1969 |
1995 |
N/A |
INTRINSIC |
|
low complexity region
|
2007 |
2032 |
N/A |
INTRINSIC |
|
low complexity region
|
2048 |
2076 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126301
|
| SMART Domains |
Protein: ENSMUSP00000141436
Gene: ENSMUSG00000001855
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153096
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (73/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Embryos homozygous for a null mutation die between 4.0 and 4.5 dpc, following depletion of maternally-derived gene product. In vitro, cultured 3.5-dpc mutant embryos arrest in the G2 phase, and show blastocoel contraction with defects in NLS-mediated protein import and polyadenylated RNA export. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
T |
C |
13: 104,450,809 (GRCm39) |
S331P |
probably damaging |
Het |
| Akap9 |
T |
G |
5: 4,115,000 (GRCm39) |
|
probably null |
Het |
| Ankef1 |
A |
G |
2: 136,379,077 (GRCm39) |
E9G |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,336,530 (GRCm39) |
E788G |
probably benign |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Asrgl1 |
A |
T |
19: 9,093,868 (GRCm39) |
I220K |
probably damaging |
Het |
| Atg16l2 |
A |
C |
7: 100,941,536 (GRCm39) |
*404E |
probably null |
Het |
| Atp4a |
T |
C |
7: 30,415,382 (GRCm39) |
F334S |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,292,495 (GRCm39) |
E17G |
probably benign |
Het |
| Bcat2 |
T |
C |
7: 45,237,691 (GRCm39) |
V279A |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,916,382 (GRCm39) |
M459R |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,984,760 (GRCm39) |
Y3098C |
unknown |
Het |
| Btaf1 |
T |
A |
19: 36,958,520 (GRCm39) |
M679K |
probably benign |
Het |
| Cirop |
T |
A |
14: 54,933,216 (GRCm39) |
R322S |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,890,589 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Crhr1 |
G |
A |
11: 104,064,740 (GRCm39) |
C364Y |
probably damaging |
Het |
| Crmp1 |
T |
C |
5: 37,446,288 (GRCm39) |
L648P |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,550,277 (GRCm39) |
Y671H |
probably damaging |
Het |
| Cyp2b13 |
C |
T |
7: 25,761,044 (GRCm39) |
P34S |
probably damaging |
Het |
| Dnajb6 |
T |
A |
5: 29,986,131 (GRCm39) |
V233E |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,301,216 (GRCm39) |
H191L |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,781 (GRCm39) |
D817E |
probably damaging |
Het |
| Dytn |
T |
C |
1: 63,686,680 (GRCm39) |
Q330R |
possibly damaging |
Het |
| Fads1 |
G |
T |
19: 10,163,091 (GRCm39) |
E123* |
probably null |
Het |
| Fchsd2 |
T |
C |
7: 100,921,016 (GRCm39) |
|
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,938 (GRCm39) |
E270G |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,172 (GRCm39) |
H41L |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,756,096 (GRCm39) |
N985S |
possibly damaging |
Het |
| Gp1ba |
T |
C |
11: 70,530,963 (GRCm39) |
|
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,153,766 (GRCm39) |
E702K |
probably benign |
Het |
| Igf2bp3 |
A |
T |
6: 49,084,362 (GRCm39) |
N285K |
possibly damaging |
Het |
| Lca5l |
G |
A |
16: 95,980,112 (GRCm39) |
T6I |
possibly damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,604 (GRCm39) |
H354R |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,290,999 (GRCm39) |
V195E |
possibly damaging |
Het |
| Mtfmt |
C |
T |
9: 65,351,182 (GRCm39) |
T243I |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,500,208 (GRCm39) |
I195K |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,380 (GRCm39) |
K300E |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,260,105 (GRCm39) |
S628P |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,663,385 (GRCm39) |
M1V |
probably null |
Het |
| Or5d47 |
A |
G |
2: 87,804,931 (GRCm39) |
V26A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,726,457 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,065,320 (GRCm39) |
S12G |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,382,826 (GRCm39) |
Y289H |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,149,954 (GRCm39) |
I717T |
probably damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,846,299 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,510,373 (GRCm39) |
I354V |
probably benign |
Het |
| Prss2 |
T |
C |
6: 41,501,387 (GRCm39) |
V152A |
probably benign |
Het |
| Rab28 |
C |
T |
5: 41,793,223 (GRCm39) |
A141T |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,472,877 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
G |
2: 25,475,415 (GRCm39) |
S553R |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,717,374 (GRCm39) |
F170S |
possibly damaging |
Het |
| Ror2 |
T |
A |
13: 53,267,116 (GRCm39) |
M440L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsph4a |
A |
T |
10: 33,785,139 (GRCm39) |
Q350L |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,450,869 (GRCm39) |
F204L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,533,257 (GRCm39) |
|
probably null |
Het |
| Shisa3 |
C |
T |
5: 67,768,486 (GRCm39) |
P129S |
probably benign |
Het |
| Slc13a2 |
G |
A |
11: 78,295,534 (GRCm39) |
L111F |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,743,025 (GRCm39) |
R1195W |
probably damaging |
Het |
| Syna |
C |
A |
5: 134,588,968 (GRCm39) |
|
probably benign |
Het |
| Thada |
A |
T |
17: 84,744,030 (GRCm39) |
D759E |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,869,753 (GRCm39) |
Y385C |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,327,601 (GRCm39) |
D1424N |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 130,090,599 (GRCm39) |
Q1204L |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,671 (GRCm39) |
N43S |
possibly damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,481 (GRCm39) |
K921R |
probably benign |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Ugt2a2 |
T |
G |
5: 87,610,818 (GRCm39) |
K339N |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,947,211 (GRCm39) |
T514A |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,774,682 (GRCm39) |
M652K |
possibly damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,083,184 (GRCm39) |
Y550F |
probably benign |
Het |
| Zfp995 |
G |
A |
17: 22,099,269 (GRCm39) |
P322S |
probably damaging |
Het |
|
| Other mutations in Nup214 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00490:Nup214
|
APN |
2 |
31,923,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00649:Nup214
|
APN |
2 |
31,896,733 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01149:Nup214
|
APN |
2 |
31,924,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01360:Nup214
|
APN |
2 |
31,928,190 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01409:Nup214
|
APN |
2 |
31,916,943 (GRCm39) |
splice site |
probably null |
|
|
IGL01530:Nup214
|
APN |
2 |
31,923,733 (GRCm39) |
missense |
probably benign |
|
|
IGL01554:Nup214
|
APN |
2 |
31,941,084 (GRCm39) |
nonsense |
probably null |
|
|
IGL01944:Nup214
|
APN |
2 |
31,924,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL02296:Nup214
|
APN |
2 |
31,878,200 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02563:Nup214
|
APN |
2 |
31,867,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02688:Nup214
|
APN |
2 |
31,921,287 (GRCm39) |
missense |
probably benign |
|
|
IGL02858:Nup214
|
APN |
2 |
31,900,384 (GRCm39) |
splice site |
probably benign |
|
|
IGL02953:Nup214
|
APN |
2 |
31,878,241 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03090:Nup214
|
APN |
2 |
31,908,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03124:Nup214
|
APN |
2 |
31,886,452 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03225:Nup214
|
APN |
2 |
31,924,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03375:Nup214
|
APN |
2 |
31,900,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Des_moines
|
UTSW |
2 |
31,870,596 (GRCm39) |
splice site |
probably null |
|
|
ANU74:Nup214
|
UTSW |
2 |
31,924,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0035:Nup214
|
UTSW |
2 |
31,880,379 (GRCm39) |
splice site |
probably null |
|
|
R0243:Nup214
|
UTSW |
2 |
31,888,069 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Nup214
|
UTSW |
2 |
31,924,826 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0358:Nup214
|
UTSW |
2 |
31,894,312 (GRCm39) |
splice site |
probably null |
|
|
R1168:Nup214
|
UTSW |
2 |
31,915,313 (GRCm39) |
missense |
probably benign |
|
|
R1242:Nup214
|
UTSW |
2 |
31,867,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1481:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1894:Nup214
|
UTSW |
2 |
31,886,392 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2146:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Nup214
|
UTSW |
2 |
31,924,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2293:Nup214
|
UTSW |
2 |
31,916,887 (GRCm39) |
missense |
probably benign |
|
|
R2924:Nup214
|
UTSW |
2 |
31,888,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Nup214
|
UTSW |
2 |
31,888,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3037:Nup214
|
UTSW |
2 |
31,866,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3426:Nup214
|
UTSW |
2 |
31,923,415 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3799:Nup214
|
UTSW |
2 |
31,924,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Nup214
|
UTSW |
2 |
31,941,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Nup214
|
UTSW |
2 |
31,884,696 (GRCm39) |
missense |
probably benign |
|
|
R4353:Nup214
|
UTSW |
2 |
31,867,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4601:Nup214
|
UTSW |
2 |
31,887,977 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4626:Nup214
|
UTSW |
2 |
31,923,416 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4874:Nup214
|
UTSW |
2 |
31,870,596 (GRCm39) |
splice site |
probably null |
|
|
R4938:Nup214
|
UTSW |
2 |
31,873,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4939:Nup214
|
UTSW |
2 |
31,873,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Nup214
|
UTSW |
2 |
31,881,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Nup214
|
UTSW |
2 |
31,907,158 (GRCm39) |
missense |
unknown |
|
|
R5406:Nup214
|
UTSW |
2 |
31,892,619 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5507:Nup214
|
UTSW |
2 |
31,878,188 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5695:Nup214
|
UTSW |
2 |
31,924,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Nup214
|
UTSW |
2 |
31,900,308 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5908:Nup214
|
UTSW |
2 |
31,881,353 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5967:Nup214
|
UTSW |
2 |
31,869,790 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6140:Nup214
|
UTSW |
2 |
31,941,808 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6488:Nup214
|
UTSW |
2 |
31,881,384 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6934:Nup214
|
UTSW |
2 |
31,872,683 (GRCm39) |
nonsense |
probably null |
|
|
R6970:Nup214
|
UTSW |
2 |
31,941,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Nup214
|
UTSW |
2 |
31,924,168 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7114:Nup214
|
UTSW |
2 |
31,915,256 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7120:Nup214
|
UTSW |
2 |
31,941,054 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7249:Nup214
|
UTSW |
2 |
31,878,245 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7821:Nup214
|
UTSW |
2 |
31,916,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8026:Nup214
|
UTSW |
2 |
31,923,362 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8264:Nup214
|
UTSW |
2 |
31,884,738 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8284:Nup214
|
UTSW |
2 |
31,886,458 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8356:Nup214
|
UTSW |
2 |
31,929,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8397:Nup214
|
UTSW |
2 |
31,880,266 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8456:Nup214
|
UTSW |
2 |
31,929,372 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8785:Nup214
|
UTSW |
2 |
31,924,465 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9257:Nup214
|
UTSW |
2 |
31,923,347 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9291:Nup214
|
UTSW |
2 |
31,867,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9376:Nup214
|
UTSW |
2 |
31,924,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9408:Nup214
|
UTSW |
2 |
31,937,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9613:Nup214
|
UTSW |
2 |
31,901,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9789:Nup214
|
UTSW |
2 |
31,907,227 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
RF015:Nup214
|
UTSW |
2 |
31,924,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Nup214
|
UTSW |
2 |
31,910,318 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0065:Nup214
|
UTSW |
2 |
31,932,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nup214
|
UTSW |
2 |
31,901,235 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1176:Nup214
|
UTSW |
2 |
31,924,237 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nup214
|
UTSW |
2 |
31,900,270 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Nup214
|
UTSW |
2 |
31,887,971 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTACCTGGACTGCCATTC -3'
(R):5'- AGCCTCAGTTCCGATAGTCTG -3'
Sequencing Primer
(F):5'- GGACTGCCATTCCTCTAACATTAGG -3'
(R):5'- CTCAGTTCCGATAGTCTGAATTCAGG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation