Incidental Mutation 'IGL01681:Nexn'
ID |
103790 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nexn
|
Ensembl Gene |
ENSMUSG00000039103 |
Gene Name |
nexilin |
Synonyms |
1110046H09Rik, nF actin binding protein |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
IGL01681
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
151942619-151971987 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 151949507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 321
(M321V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046045]
[ENSMUST00000196504]
[ENSMUST00000196815]
[ENSMUST00000198460]
[ENSMUST00000199470]
[ENSMUST00000199423]
[ENSMUST00000199685]
[ENSMUST00000198750]
[ENSMUST00000198648]
[ENSMUST00000200589]
|
AlphaFold |
Q7TPW1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046045
AA Change: M334V
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037120 Gene: ENSMUSG00000039103 AA Change: M334V
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
coiled coil region
|
176 |
358 |
N/A |
INTRINSIC |
coiled coil region
|
391 |
419 |
N/A |
INTRINSIC |
low complexity region
|
452 |
470 |
N/A |
INTRINSIC |
low complexity region
|
487 |
493 |
N/A |
INTRINSIC |
IG
|
519 |
603 |
4.82e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196504
|
SMART Domains |
Protein: ENSMUSP00000143180 Gene: ENSMUSG00000039103
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196529
AA Change: M200V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196815
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198404
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198460
AA Change: M321V
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143573 Gene: ENSMUSG00000039103 AA Change: M321V
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
14 |
35 |
1.01e-5 |
PROSPERO |
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
internal_repeat_1
|
86 |
106 |
1.01e-5 |
PROSPERO |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
coiled coil region
|
226 |
345 |
N/A |
INTRINSIC |
coiled coil region
|
378 |
406 |
N/A |
INTRINSIC |
coiled coil region
|
429 |
480 |
N/A |
INTRINSIC |
IG
|
506 |
590 |
2.1e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199470
AA Change: M264V
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143133 Gene: ENSMUSG00000039103 AA Change: M264V
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
14 |
35 |
5.77e-6 |
PROSPERO |
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
internal_repeat_1
|
86 |
106 |
5.77e-6 |
PROSPERO |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
low complexity region
|
176 |
210 |
N/A |
INTRINSIC |
low complexity region
|
248 |
259 |
N/A |
INTRINSIC |
coiled coil region
|
321 |
349 |
N/A |
INTRINSIC |
coiled coil region
|
372 |
423 |
N/A |
INTRINSIC |
IG
|
449 |
533 |
2e-8 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199423
AA Change: M398V
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142936 Gene: ENSMUSG00000039103 AA Change: M398V
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
14 |
35 |
4.74e-6 |
PROSPERO |
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
internal_repeat_1
|
86 |
106 |
4.74e-6 |
PROSPERO |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
coiled coil region
|
240 |
422 |
N/A |
INTRINSIC |
coiled coil region
|
455 |
483 |
N/A |
INTRINSIC |
coiled coil region
|
506 |
557 |
N/A |
INTRINSIC |
IG
|
583 |
667 |
2e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198734
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199685
|
SMART Domains |
Protein: ENSMUSP00000142569 Gene: ENSMUSG00000039103
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198750
|
SMART Domains |
Protein: ENSMUSP00000142574 Gene: ENSMUSG00000039103
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
86 |
N/A |
INTRINSIC |
coiled coil region
|
162 |
269 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198648
|
SMART Domains |
Protein: ENSMUSP00000143294 Gene: ENSMUSG00000039103
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200589
|
SMART Domains |
Protein: ENSMUSP00000142559 Gene: ENSMUSG00000039103
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
14 |
35 |
8.44e-7 |
PROSPERO |
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
internal_repeat_1
|
86 |
106 |
8.44e-7 |
PROSPERO |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
coiled coil region
|
226 |
333 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality with endomyocardial fibroelastosis, cardiac hypertrophy and dilated cardiomyopathy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
T |
A |
18: 80,171,103 (GRCm39) |
E1102V |
probably damaging |
Het |
Appl2 |
T |
A |
10: 83,450,165 (GRCm39) |
I236F |
possibly damaging |
Het |
Asb15 |
C |
A |
6: 24,567,137 (GRCm39) |
T486K |
probably damaging |
Het |
Bsdc1 |
T |
C |
4: 129,359,141 (GRCm39) |
|
probably null |
Het |
Cts8 |
G |
T |
13: 61,401,433 (GRCm39) |
Q61K |
probably benign |
Het |
Cyp2d34 |
C |
T |
15: 82,501,332 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,443,315 (GRCm39) |
T575A |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,142,196 (GRCm39) |
|
probably null |
Het |
Fam170a |
A |
G |
18: 50,415,302 (GRCm39) |
D316G |
possibly damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,732,854 (GRCm39) |
L216Q |
probably damaging |
Het |
Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,710,133 (GRCm39) |
S207P |
probably benign |
Het |
Kng2 |
T |
A |
16: 22,815,767 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
T |
10: 27,141,041 (GRCm39) |
E653K |
probably benign |
Het |
Lrrcc1 |
T |
C |
3: 14,613,286 (GRCm39) |
V37A |
probably benign |
Het |
Neb |
T |
C |
2: 52,091,498 (GRCm39) |
D5085G |
probably damaging |
Het |
Nsmce3 |
A |
G |
7: 64,522,221 (GRCm39) |
I149T |
probably benign |
Het |
Oxct1 |
T |
G |
15: 4,131,326 (GRCm39) |
S405A |
possibly damaging |
Het |
Pdpr |
T |
A |
8: 111,859,568 (GRCm39) |
N703K |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,523,143 (GRCm39) |
D83E |
probably damaging |
Het |
Slc47a2 |
C |
T |
11: 61,228,866 (GRCm39) |
A104T |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,639,185 (GRCm39) |
I393V |
probably damaging |
Het |
Thoc6 |
A |
T |
17: 23,888,857 (GRCm39) |
L184M |
possibly damaging |
Het |
Tjp2 |
C |
T |
19: 24,112,213 (GRCm39) |
|
probably null |
Het |
Tmem63b |
A |
G |
17: 45,974,497 (GRCm39) |
L591P |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,512 (GRCm39) |
|
probably null |
Het |
Trmt5 |
G |
T |
12: 73,329,377 (GRCm39) |
|
probably benign |
Het |
Ubap1l |
T |
A |
9: 65,281,201 (GRCm39) |
M293K |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,935 (GRCm39) |
E211G |
probably damaging |
Het |
Zbbx |
A |
C |
3: 74,959,785 (GRCm39) |
Y595D |
probably damaging |
Het |
Zc3h10 |
G |
A |
10: 128,381,109 (GRCm39) |
Q83* |
probably null |
Het |
Zcchc3 |
T |
C |
2: 152,255,925 (GRCm39) |
N258S |
probably damaging |
Het |
|
Other mutations in Nexn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01316:Nexn
|
APN |
3 |
151,952,870 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02098:Nexn
|
APN |
3 |
151,949,540 (GRCm39) |
nonsense |
probably null |
|
IGL02146:Nexn
|
APN |
3 |
151,952,885 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02151:Nexn
|
APN |
3 |
151,953,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R0369:Nexn
|
UTSW |
3 |
151,953,894 (GRCm39) |
missense |
probably benign |
0.40 |
R0540:Nexn
|
UTSW |
3 |
151,953,879 (GRCm39) |
nonsense |
probably null |
|
R1501:Nexn
|
UTSW |
3 |
151,943,323 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1828:Nexn
|
UTSW |
3 |
151,948,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Nexn
|
UTSW |
3 |
151,953,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R1990:Nexn
|
UTSW |
3 |
151,958,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R2857:Nexn
|
UTSW |
3 |
151,953,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R2858:Nexn
|
UTSW |
3 |
151,953,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R4482:Nexn
|
UTSW |
3 |
151,948,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R4593:Nexn
|
UTSW |
3 |
151,958,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Nexn
|
UTSW |
3 |
151,943,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R5113:Nexn
|
UTSW |
3 |
151,949,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R5252:Nexn
|
UTSW |
3 |
151,943,590 (GRCm39) |
missense |
probably benign |
0.01 |
R5289:Nexn
|
UTSW |
3 |
151,953,709 (GRCm39) |
missense |
probably benign |
0.13 |
R5502:Nexn
|
UTSW |
3 |
151,943,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R5746:Nexn
|
UTSW |
3 |
151,948,513 (GRCm39) |
unclassified |
probably benign |
|
R6230:Nexn
|
UTSW |
3 |
151,943,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Nexn
|
UTSW |
3 |
151,952,832 (GRCm39) |
missense |
probably damaging |
0.96 |
R7523:Nexn
|
UTSW |
3 |
151,952,815 (GRCm39) |
missense |
probably benign |
0.01 |
R7571:Nexn
|
UTSW |
3 |
151,959,284 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7587:Nexn
|
UTSW |
3 |
151,952,815 (GRCm39) |
missense |
probably benign |
0.01 |
R8359:Nexn
|
UTSW |
3 |
151,953,998 (GRCm39) |
missense |
probably damaging |
0.98 |
R8898:Nexn
|
UTSW |
3 |
151,948,306 (GRCm39) |
missense |
probably benign |
0.08 |
R9382:Nexn
|
UTSW |
3 |
151,959,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |