Incidental Mutation 'R5827:Nup188'
| ID |
450202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup188
|
| Ensembl Gene |
ENSMUSG00000052533 |
| Gene Name |
nucleoporin 188 |
| Synonyms |
|
| MMRRC Submission |
043218-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R5827 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30176419-30234278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30229859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1359
(T1359I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028214]
[ENSMUST00000064447]
[ENSMUST00000100215]
[ENSMUST00000113620]
[ENSMUST00000113621]
[ENSMUST00000163668]
|
| AlphaFold |
Q6ZQH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028214
|
| SMART Domains |
Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
8.25e-92 |
SMART |
|
low complexity region
|
288 |
334 |
N/A |
INTRINSIC |
|
SH3
|
338 |
395 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064447
AA Change: T1359I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: T1359I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
31 |
941 |
9.3e-213 |
PFAM |
|
low complexity region
|
1020 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1696 |
1709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100215
|
| SMART Domains |
Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
4.42e-92 |
SMART |
|
low complexity region
|
293 |
339 |
N/A |
INTRINSIC |
|
SH3
|
343 |
400 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113620
|
| SMART Domains |
Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
3.85e-92 |
SMART |
|
low complexity region
|
267 |
313 |
N/A |
INTRINSIC |
|
SH3
|
317 |
374 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113621
|
| SMART Domains |
Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
284 |
5.36e-91 |
SMART |
|
low complexity region
|
297 |
343 |
N/A |
INTRINSIC |
|
SH3
|
347 |
404 |
2.16e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163668
|
| SMART Domains |
Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
2.06e-92 |
SMART |
|
low complexity region
|
272 |
318 |
N/A |
INTRINSIC |
|
SH3
|
322 |
379 |
2.16e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
| Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
| Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
| Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
| H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
| Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
| Map4k3 |
C |
T |
17: 80,900,712 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
| Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
| Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
| Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
| Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
| Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
| Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
| Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
| Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
| Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
| Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
| Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
| Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
| Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
| Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
| Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
| Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
probably damaging |
Het |
|
| Other mutations in Nup188 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00908:Nup188
|
APN |
2 |
30,223,412 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01599:Nup188
|
APN |
2 |
30,217,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01938:Nup188
|
APN |
2 |
30,219,371 (GRCm39) |
missense |
probably benign |
|
|
IGL01973:Nup188
|
APN |
2 |
30,229,862 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02157:Nup188
|
APN |
2 |
30,219,385 (GRCm39) |
nonsense |
probably null |
|
|
IGL02221:Nup188
|
APN |
2 |
30,220,653 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02277:Nup188
|
APN |
2 |
30,216,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02335:Nup188
|
APN |
2 |
30,213,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02986:Nup188
|
APN |
2 |
30,197,645 (GRCm39) |
splice site |
probably null |
|
|
IGL03029:Nup188
|
APN |
2 |
30,212,592 (GRCm39) |
splice site |
probably benign |
|
|
IGL03194:Nup188
|
APN |
2 |
30,194,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03370:Nup188
|
APN |
2 |
30,230,653 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
core
|
UTSW |
2 |
30,229,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kern
|
UTSW |
2 |
30,227,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
P0027:Nup188
|
UTSW |
2 |
30,212,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0006:Nup188
|
UTSW |
2 |
30,212,035 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0360:Nup188
|
UTSW |
2 |
30,216,491 (GRCm39) |
missense |
probably null |
0.93 |
|
R0373:Nup188
|
UTSW |
2 |
30,221,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Nup188
|
UTSW |
2 |
30,233,478 (GRCm39) |
splice site |
probably null |
|
|
R1411:Nup188
|
UTSW |
2 |
30,233,807 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1670:Nup188
|
UTSW |
2 |
30,230,667 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2034:Nup188
|
UTSW |
2 |
30,200,097 (GRCm39) |
unclassified |
probably benign |
|
|
R2113:Nup188
|
UTSW |
2 |
30,194,113 (GRCm39) |
nonsense |
probably null |
|
|
R2142:Nup188
|
UTSW |
2 |
30,226,718 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2221:Nup188
|
UTSW |
2 |
30,226,936 (GRCm39) |
splice site |
probably benign |
|
|
R2567:Nup188
|
UTSW |
2 |
30,231,794 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2964:Nup188
|
UTSW |
2 |
30,215,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4006:Nup188
|
UTSW |
2 |
30,199,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4007:Nup188
|
UTSW |
2 |
30,199,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4079:Nup188
|
UTSW |
2 |
30,199,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4480:Nup188
|
UTSW |
2 |
30,212,141 (GRCm39) |
intron |
probably benign |
|
|
R4628:Nup188
|
UTSW |
2 |
30,219,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Nup188
|
UTSW |
2 |
30,220,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Nup188
|
UTSW |
2 |
30,216,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4834:Nup188
|
UTSW |
2 |
30,229,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Nup188
|
UTSW |
2 |
30,199,232 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5056:Nup188
|
UTSW |
2 |
30,194,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5124:Nup188
|
UTSW |
2 |
30,220,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Nup188
|
UTSW |
2 |
30,220,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Nup188
|
UTSW |
2 |
30,220,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Nup188
|
UTSW |
2 |
30,216,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5560:Nup188
|
UTSW |
2 |
30,199,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Nup188
|
UTSW |
2 |
30,226,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Nup188
|
UTSW |
2 |
30,220,747 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5773:Nup188
|
UTSW |
2 |
30,212,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5774:Nup188
|
UTSW |
2 |
30,191,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Nup188
|
UTSW |
2 |
30,229,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Nup188
|
UTSW |
2 |
30,194,102 (GRCm39) |
missense |
probably benign |
|
|
R6185:Nup188
|
UTSW |
2 |
30,231,722 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6457:Nup188
|
UTSW |
2 |
30,212,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6529:Nup188
|
UTSW |
2 |
30,216,466 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7002:Nup188
|
UTSW |
2 |
30,213,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7195:Nup188
|
UTSW |
2 |
30,231,842 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7214:Nup188
|
UTSW |
2 |
30,197,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7345:Nup188
|
UTSW |
2 |
30,230,613 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7853:Nup188
|
UTSW |
2 |
30,213,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7998:Nup188
|
UTSW |
2 |
30,220,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Nup188
|
UTSW |
2 |
30,227,277 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8080:Nup188
|
UTSW |
2 |
30,227,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8804:Nup188
|
UTSW |
2 |
30,220,891 (GRCm39) |
missense |
probably benign |
|
|
R8850:Nup188
|
UTSW |
2 |
30,217,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9110:Nup188
|
UTSW |
2 |
30,222,461 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9157:Nup188
|
UTSW |
2 |
30,188,456 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9209:Nup188
|
UTSW |
2 |
30,232,397 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9287:Nup188
|
UTSW |
2 |
30,226,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9325:Nup188
|
UTSW |
2 |
30,212,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9390:Nup188
|
UTSW |
2 |
30,220,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9607:Nup188
|
UTSW |
2 |
30,197,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9746:Nup188
|
UTSW |
2 |
30,194,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9768:Nup188
|
UTSW |
2 |
30,227,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0722:Nup188
|
UTSW |
2 |
30,212,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAACCTGCATTTTACTGAGG -3'
(R):5'- TAAACGCTCCCAGGGAACTC -3'
Sequencing Primer
(F):5'- CATTTTACTGAGGCTGCGC -3'
(R):5'- GCTCCCAGGGAACTCAGATATATAAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation