Incidental Mutation 'R1679:Nxf1'
| ID |
188376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxf1
|
| Ensembl Gene |
ENSMUSG00000010097 |
| Gene Name |
nuclear RNA export factor 1 |
| Synonyms |
Tip associated protein, TAP, Mex67, Mvb1 |
| MMRRC Submission |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8734467-8748274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8746438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 550
(S550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010241]
[ENSMUST00000010248]
[ENSMUST00000010249]
[ENSMUST00000183939]
[ENSMUST00000184970]
[ENSMUST00000184663]
|
| AlphaFold |
Q99JX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010241
AA Change: S550P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: S550P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
115 |
198 |
7.6e-42 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
LRRcap
|
333 |
351 |
1.44e0 |
SMART |
|
Pfam:NTF2
|
385 |
535 |
1.3e-29 |
PFAM |
|
TAP_C
|
555 |
618 |
1.85e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010248
|
| SMART Domains |
Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM223
|
32 |
197 |
6.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010249
|
| SMART Domains |
Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183939
|
| SMART Domains |
Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tap-RNA_bind
|
1 |
63 |
5.7e-28 |
PFAM |
|
low complexity region
|
122 |
138 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
155 |
178 |
2.1e-2 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184387
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184826
AA Change: S20P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185056
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184970
|
| SMART Domains |
Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
112 |
199 |
2.4e-45 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
291 |
314 |
3.2e-2 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184663
|
| SMART Domains |
Protein: ENSMUSP00000139090
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
LRRcap
|
28 |
46 |
1.44e0 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some alleles are able to suppress defects caused by retrovirus insertion mutations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
| Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Slc20a2 |
T |
G |
8: 23,028,846 (GRCm39) |
S106A |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
possibly damaging |
Het |
|
| Other mutations in Nxf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Nxf1
|
APN |
19 |
8,740,106 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02318:Nxf1
|
APN |
19 |
8,741,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03383:Nxf1
|
APN |
19 |
8,741,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chance
|
UTSW |
19 |
8,746,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Necessity
|
UTSW |
19 |
8,745,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Possibility
|
UTSW |
19 |
8,745,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Probability
|
UTSW |
19 |
8,741,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0125:Nxf1
|
UTSW |
19 |
8,740,170 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0362:Nxf1
|
UTSW |
19 |
8,741,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0374:Nxf1
|
UTSW |
19 |
8,745,103 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0403:Nxf1
|
UTSW |
19 |
8,742,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Nxf1
|
UTSW |
19 |
8,741,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Nxf1
|
UTSW |
19 |
8,741,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1068:Nxf1
|
UTSW |
19 |
8,740,118 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1503:Nxf1
|
UTSW |
19 |
8,739,800 (GRCm39) |
missense |
probably benign |
|
|
R1669:Nxf1
|
UTSW |
19 |
8,749,495 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4424:Nxf1
|
UTSW |
19 |
8,744,128 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4608:Nxf1
|
UTSW |
19 |
8,740,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4783:Nxf1
|
UTSW |
19 |
8,744,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4969:Nxf1
|
UTSW |
19 |
8,739,669 (GRCm39) |
splice site |
probably null |
|
|
R5233:Nxf1
|
UTSW |
19 |
8,741,293 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5370:Nxf1
|
UTSW |
19 |
8,749,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Nxf1
|
UTSW |
19 |
8,745,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Nxf1
|
UTSW |
19 |
8,745,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Nxf1
|
UTSW |
19 |
8,745,151 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6293:Nxf1
|
UTSW |
19 |
8,746,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Nxf1
|
UTSW |
19 |
8,741,910 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8170:Nxf1
|
UTSW |
19 |
8,748,414 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8317:Nxf1
|
UTSW |
19 |
8,748,407 (GRCm39) |
missense |
probably benign |
|
|
R9110:Nxf1
|
UTSW |
19 |
8,745,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Nxf1
|
UTSW |
19 |
8,749,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9701:Nxf1
|
UTSW |
19 |
8,739,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Nxf1
|
UTSW |
19 |
8,739,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Nxf1
|
UTSW |
19 |
8,749,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Nxf1
|
UTSW |
19 |
8,741,128 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAAACGCCTCGTCTATAGTCAAGGA -3'
(R):5'- GGTCTGCTGGCTCATGCCTTTAAT -3'
Sequencing Primer
(F):5'- GCCTCGTCTATAGTCAAGGATAAATG -3'
(R):5'- ccagacaagagtacatagtaagacc -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation