Incidental Mutation 'R1036:Nup107'
| ID |
93803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup107
|
| Ensembl Gene |
ENSMUSG00000052798 |
| Gene Name |
nucleoporin 107 |
| Synonyms |
|
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
117586526-117628607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117593199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 826
(D826E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064848]
[ENSMUST00000167943]
[ENSMUST00000218576]
|
| AlphaFold |
Q8BH74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064848
AA Change: D826E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: D826E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup84_Nup100
|
210 |
909 |
2.2e-218 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167943
AA Change: D824E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: D824E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup84_Nup100
|
206 |
909 |
2.4e-226 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218576
|
| Meta Mutation Damage Score |
0.6478 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nup107 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Nup107
|
APN |
10 |
117,599,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00595:Nup107
|
APN |
10 |
117,609,273 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00595:Nup107
|
APN |
10 |
117,609,257 (GRCm39) |
nonsense |
probably null |
|
|
IGL01120:Nup107
|
APN |
10 |
117,606,146 (GRCm39) |
splice site |
probably benign |
|
|
IGL01420:Nup107
|
APN |
10 |
117,620,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Nup107
|
APN |
10 |
117,617,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01748:Nup107
|
APN |
10 |
117,593,179 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01755:Nup107
|
APN |
10 |
117,610,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Nup107
|
APN |
10 |
117,595,245 (GRCm39) |
splice site |
probably benign |
|
|
IGL03394:Nup107
|
APN |
10 |
117,617,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0371:Nup107
|
UTSW |
10 |
117,599,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1186:Nup107
|
UTSW |
10 |
117,613,051 (GRCm39) |
nonsense |
probably null |
|
|
R1538:Nup107
|
UTSW |
10 |
117,626,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1555:Nup107
|
UTSW |
10 |
117,587,395 (GRCm39) |
splice site |
probably benign |
|
|
R1570:Nup107
|
UTSW |
10 |
117,599,749 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1758:Nup107
|
UTSW |
10 |
117,597,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Nup107
|
UTSW |
10 |
117,586,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Nup107
|
UTSW |
10 |
117,609,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2127:Nup107
|
UTSW |
10 |
117,610,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4480:Nup107
|
UTSW |
10 |
117,597,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4540:Nup107
|
UTSW |
10 |
117,597,925 (GRCm39) |
splice site |
probably null |
|
|
R4584:Nup107
|
UTSW |
10 |
117,602,273 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4878:Nup107
|
UTSW |
10 |
117,587,323 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4887:Nup107
|
UTSW |
10 |
117,606,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Nup107
|
UTSW |
10 |
117,606,416 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5960:Nup107
|
UTSW |
10 |
117,625,915 (GRCm39) |
missense |
probably null |
|
|
R5986:Nup107
|
UTSW |
10 |
117,595,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6947:Nup107
|
UTSW |
10 |
117,593,179 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7092:Nup107
|
UTSW |
10 |
117,626,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7165:Nup107
|
UTSW |
10 |
117,609,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7190:Nup107
|
UTSW |
10 |
117,598,040 (GRCm39) |
missense |
probably benign |
|
|
R7331:Nup107
|
UTSW |
10 |
117,606,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7405:Nup107
|
UTSW |
10 |
117,606,320 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7596:Nup107
|
UTSW |
10 |
117,613,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Nup107
|
UTSW |
10 |
117,606,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Nup107
|
UTSW |
10 |
117,593,917 (GRCm39) |
nonsense |
probably null |
|
|
R7918:Nup107
|
UTSW |
10 |
117,617,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7998:Nup107
|
UTSW |
10 |
117,593,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8060:Nup107
|
UTSW |
10 |
117,599,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8209:Nup107
|
UTSW |
10 |
117,593,836 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8226:Nup107
|
UTSW |
10 |
117,593,836 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8470:Nup107
|
UTSW |
10 |
117,606,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Nup107
|
UTSW |
10 |
117,586,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Nup107
|
UTSW |
10 |
117,593,238 (GRCm39) |
missense |
probably benign |
|
|
R9668:Nup107
|
UTSW |
10 |
117,610,383 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATACAGTGCATGGGATCTTTCTTGC -3'
(R):5'- GGCTGAGTCAGCTCATAAGAATGATGG -3'
Sequencing Primer
(F):5'- agtcctctcttctgcctctg -3'
(R):5'- CAGCTCATAAGAATGATGGTTTGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation