Incidental Mutation 'R5748:Nup85'
| ID |
445882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup85
|
| Ensembl Gene |
ENSMUSG00000020739 |
| Gene Name |
nucleoporin 85 |
| Synonyms |
Pcnt1, frount |
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115455264-115474750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115471338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 110
(L110Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000021085]
[ENSMUST00000106508]
[ENSMUST00000140986]
[ENSMUST00000144473]
[ENSMUST00000156173]
|
| AlphaFold |
Q8R480 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019135
|
| SMART Domains |
Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
222 |
299 |
1.7e-20 |
PFAM |
|
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
586 |
710 |
6.09e-43 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021085
AA Change: L368Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: L368Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleopor_Nup85
|
53 |
606 |
1.2e-181 |
PFAM |
|
low complexity region
|
635 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106508
|
| SMART Domains |
Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
206 |
307 |
1.3e-32 |
PFAM |
|
low complexity region
|
377 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
476 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
508 |
632 |
6.09e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138998
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140986
AA Change: L110Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739
AA Change: L110Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleopor_Nup85
|
21 |
280 |
5.9e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144473
|
| SMART Domains |
Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleopor_Nup85
|
1 |
170 |
3e-56 |
PFAM |
|
Pfam:Nucleopor_Nup85
|
168 |
274 |
1.1e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156173
|
| SMART Domains |
Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
9 |
142 |
9.36e-55 |
SMART |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
206 |
307 |
7.3e-32 |
PFAM |
|
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4526 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Nup85 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00550:Nup85
|
APN |
11 |
115,472,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Nup85
|
APN |
11 |
115,460,540 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01775:Nup85
|
APN |
11 |
115,471,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Nup85
|
APN |
11 |
115,468,757 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02456:Nup85
|
APN |
11 |
115,472,691 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02888:Nup85
|
APN |
11 |
115,469,626 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03210:Nup85
|
APN |
11 |
115,457,462 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4403001:Nup85
|
UTSW |
11 |
115,472,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0195:Nup85
|
UTSW |
11 |
115,455,357 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0394:Nup85
|
UTSW |
11 |
115,455,357 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0639:Nup85
|
UTSW |
11 |
115,455,357 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0883:Nup85
|
UTSW |
11 |
115,459,196 (GRCm39) |
nonsense |
probably null |
|
|
R1567:Nup85
|
UTSW |
11 |
115,459,224 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1774:Nup85
|
UTSW |
11 |
115,473,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1846:Nup85
|
UTSW |
11 |
115,459,239 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1851:Nup85
|
UTSW |
11 |
115,472,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2084:Nup85
|
UTSW |
11 |
115,459,517 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4766:Nup85
|
UTSW |
11 |
115,468,751 (GRCm39) |
splice site |
probably null |
|
|
R6362:Nup85
|
UTSW |
11 |
115,474,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6906:Nup85
|
UTSW |
11 |
115,471,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6951:Nup85
|
UTSW |
11 |
115,473,781 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7835:Nup85
|
UTSW |
11 |
115,460,897 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8125:Nup85
|
UTSW |
11 |
115,469,063 (GRCm39) |
frame shift |
probably null |
|
|
R8151:Nup85
|
UTSW |
11 |
115,468,759 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8415:Nup85
|
UTSW |
11 |
115,457,468 (GRCm39) |
missense |
probably benign |
|
|
R8517:Nup85
|
UTSW |
11 |
115,455,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9090:Nup85
|
UTSW |
11 |
115,468,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9254:Nup85
|
UTSW |
11 |
115,469,424 (GRCm39) |
missense |
probably benign |
|
|
R9271:Nup85
|
UTSW |
11 |
115,468,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9379:Nup85
|
UTSW |
11 |
115,469,424 (GRCm39) |
missense |
probably benign |
|
|
R9670:Nup85
|
UTSW |
11 |
115,457,471 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9709:Nup85
|
UTSW |
11 |
115,457,463 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCATTTCTCTGTTCGACC -3'
(R):5'- CACTTTGTGGCTCCTGCAG -3'
Sequencing Primer
(F):5'- TCAGATCCCATTACAGAGGGTTG -3'
(R):5'- GCTCCTGCAGCCTACCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation