Incidental Mutation 'IGL03217:Nxf2'
| ID |
413515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxf2
|
| Ensembl Gene |
ENSMUSG00000009941 |
| Gene Name |
nuclear RNA export factor 2 |
| Synonyms |
4930455N06Rik, Nxf-b |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
133845275-133865503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133856281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 287
(I287V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010085]
[ENSMUST00000113187]
[ENSMUST00000113189]
|
| AlphaFold |
Q4ZGD8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010085
AA Change: I301V
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: I301V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tap-RNA_bind
|
122 |
205 |
4e-41 |
PFAM |
|
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
358 |
392 |
1.07e-10 |
PROSPERO |
|
internal_repeat_1
|
397 |
431 |
1.07e-10 |
PROSPERO |
|
Pfam:NTF2
|
454 |
610 |
9.6e-10 |
PFAM |
|
TAP_C
|
629 |
691 |
3.7e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113187
AA Change: I287V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: I287V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tap-RNA_bind
|
105 |
192 |
8.7e-44 |
PFAM |
|
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
344 |
378 |
9.61e-11 |
PROSPERO |
|
internal_repeat_1
|
383 |
417 |
9.61e-11 |
PROSPERO |
|
Pfam:NTF2
|
440 |
590 |
1.7e-11 |
PFAM |
|
TAP_C
|
609 |
671 |
3.7e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113189
AA Change: I301V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: I301V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tap-RNA_bind
|
119 |
206 |
8.6e-44 |
PFAM |
|
low complexity region
|
314 |
329 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
358 |
392 |
1.08e-10 |
PROSPERO |
|
internal_repeat_1
|
397 |
431 |
1.08e-10 |
PROSPERO |
|
Pfam:NTF2
|
454 |
604 |
1.4e-11 |
PFAM |
|
TAP_C
|
623 |
685 |
3.7e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143059
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice heterogyzous for the null allele exhibit reduced fertility associated with abnormal meiosis or reduced spermatogonia proliferation depending on strain background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,272,262 (GRCm39) |
P640L |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cd300lf |
T |
A |
11: 115,015,117 (GRCm39) |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,945,778 (GRCm39) |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,501,201 (GRCm39) |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,035 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,619,418 (GRCm39) |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,295 (GRCm39) |
S170P |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,529 (GRCm39) |
M536K |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,065,039 (GRCm39) |
D17G |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,567,432 (GRCm39) |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,955 (GRCm39) |
D750G |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,875 (GRCm39) |
E490K |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,428,172 (GRCm39) |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,853,223 (GRCm39) |
S352P |
probably damaging |
Het |
| Spart |
G |
T |
3: 55,035,912 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,737,947 (GRCm39) |
T45A |
possibly damaging |
Het |
| Tat |
G |
A |
8: 110,721,818 (GRCm39) |
V242I |
probably benign |
Het |
| Zfp442 |
A |
G |
2: 150,251,714 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nxf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Nxf2
|
APN |
X |
133,851,145 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01411:Nxf2
|
APN |
X |
133,852,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02166:Nxf2
|
APN |
X |
133,857,878 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02485:Nxf2
|
APN |
X |
133,857,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02561:Nxf2
|
APN |
X |
133,857,201 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2016-08-02 |
Incidental Mutation