Incidental Mutation 'R6230:Nexn'
| ID |
504607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nexn
|
| Ensembl Gene |
ENSMUSG00000039103 |
| Gene Name |
nexilin |
| Synonyms |
1110046H09Rik, nF actin binding protein |
| MMRRC Submission |
044359-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R6230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151942619-151971987 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151943912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 539
(Q539L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046045]
[ENSMUST00000106121]
[ENSMUST00000166984]
[ENSMUST00000198460]
[ENSMUST00000199423]
[ENSMUST00000199470]
[ENSMUST00000199876]
[ENSMUST00000200452]
|
| AlphaFold |
Q7TPW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046045
AA Change: Q475L
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: Q475L
| 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: ENSMUST00000106121
|
| SMART Domains |
Protein: ENSMUSP00000101727
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
571 |
599 |
1.3e-7 |
PFAM |
|
Pfam:DUF1897
|
600 |
624 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166984
|
| SMART Domains |
Protein: ENSMUSP00000130145
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
570 |
598 |
2e-7 |
PFAM |
|
Pfam:DUF1897
|
599 |
631 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196529
AA Change: Q341L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198460
AA Change: Q462L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: Q462L
| 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 |
noncoding transcript
Transcript: ENSMUST00000198539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198734
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199423
AA Change: Q539L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: Q539L
| 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 |
probably damaging
Transcript: ENSMUST00000199470
AA Change: Q405L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103
AA Change: Q405L
| 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 |
probably benign
Transcript: ENSMUST00000199876
|
| SMART Domains |
Protein: ENSMUSP00000143618
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
95 |
165 |
1.09e-17 |
SMART |
|
KH
|
180 |
252 |
2.33e-17 |
SMART |
|
KH
|
270 |
340 |
1.32e-16 |
SMART |
|
low complexity region
|
345 |
367 |
N/A |
INTRINSIC |
|
KH
|
371 |
444 |
1.19e-14 |
SMART |
|
low complexity region
|
514 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
557 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
572 |
600 |
1.5e-7 |
PFAM |
|
Pfam:DUF1897
|
601 |
625 |
1.5e-9 |
PFAM |
|
transmembrane domain
|
654 |
676 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200452
|
| SMART Domains |
Protein: ENSMUSP00000143019
Gene: ENSMUSG00000028034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
PDB:2KXH|B
|
24 |
48 |
3e-8 |
PDB |
|
KH
|
94 |
164 |
1.09e-17 |
SMART |
|
KH
|
179 |
251 |
2.33e-17 |
SMART |
|
KH
|
269 |
339 |
1.32e-16 |
SMART |
|
low complexity region
|
344 |
366 |
N/A |
INTRINSIC |
|
KH
|
370 |
443 |
1.19e-14 |
SMART |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
570 |
598 |
2e-7 |
PFAM |
|
Pfam:DUF1897
|
599 |
631 |
9.2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199983
|
| Meta Mutation Damage Score |
0.2664 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,900,261 (GRCm39) |
I871V |
probably benign |
Het |
| Atf1 |
T |
C |
15: 100,130,705 (GRCm39) |
V25A |
possibly damaging |
Het |
| Atp23 |
G |
A |
10: 126,723,431 (GRCm39) |
H224Y |
probably benign |
Het |
| Ccpg1 |
A |
G |
9: 72,919,638 (GRCm39) |
T418A |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,142,519 (GRCm39) |
I69T |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,147,422 (GRCm39) |
S328P |
probably benign |
Het |
| Cttnbp2nl |
C |
T |
3: 104,918,655 (GRCm39) |
E62K |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,525,246 (GRCm39) |
F183S |
probably damaging |
Het |
| Dync2li1 |
T |
C |
17: 84,955,078 (GRCm39) |
S246P |
probably damaging |
Het |
| Ext2 |
A |
G |
2: 93,592,965 (GRCm39) |
I413T |
probably damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,951 (GRCm39) |
V137A |
probably damaging |
Het |
| Flg |
T |
A |
3: 93,186,782 (GRCm39) |
V78E |
probably damaging |
Het |
| Fn3krp |
C |
A |
11: 121,316,418 (GRCm39) |
H111N |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,260,441 (GRCm39) |
I899T |
unknown |
Het |
| Foxq1 |
T |
C |
13: 31,743,491 (GRCm39) |
Y198H |
probably damaging |
Het |
| Gm21060 |
A |
T |
19: 61,285,449 (GRCm39) |
M20K |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,691,832 (GRCm39) |
N217K |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,736,252 (GRCm39) |
Y162H |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,072 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,973,866 (GRCm39) |
|
probably null |
Het |
| Mast2 |
T |
A |
4: 116,183,295 (GRCm39) |
H258L |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,367,576 (GRCm39) |
V598A |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,758,262 (GRCm39) |
K130E |
possibly damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
| Omg |
T |
C |
11: 79,393,784 (GRCm39) |
I25V |
probably benign |
Het |
| Or56b35 |
A |
G |
7: 104,963,289 (GRCm39) |
H26R |
possibly damaging |
Het |
| Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,990 (GRCm39) |
D627G |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,327,214 (GRCm39) |
E126G |
probably benign |
Het |
| Ppp1r2 |
T |
A |
16: 31,079,418 (GRCm39) |
D127V |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,411 (GRCm39) |
E157D |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,100,176 (GRCm39) |
S304P |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,674,993 (GRCm39) |
Y3378C |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,099,345 (GRCm39) |
N116D |
probably benign |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Smurf2 |
T |
C |
11: 106,759,330 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,672,375 (GRCm39) |
F1348L |
probably damaging |
Het |
| Tars3 |
A |
T |
7: 65,336,184 (GRCm39) |
|
probably null |
Het |
| Tmem213 |
A |
T |
6: 38,091,551 (GRCm39) |
S52C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,749,778 (GRCm39) |
D3757G |
probably benign |
Het |
| Usp16 |
C |
T |
16: 87,261,686 (GRCm39) |
P101S |
possibly damaging |
Het |
| Usp19 |
G |
A |
9: 108,379,140 (GRCm39) |
M1318I |
probably damaging |
Het |
| Vmn1r75 |
G |
A |
7: 11,614,966 (GRCm39) |
A233T |
probably damaging |
Het |
| Vsir |
A |
T |
10: 60,193,857 (GRCm39) |
N107Y |
probably damaging |
Het |
| Zfp160 |
T |
C |
17: 21,246,707 (GRCm39) |
V419A |
probably benign |
Het |
| Zfp808 |
A |
T |
13: 62,320,136 (GRCm39) |
H455L |
probably benign |
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 |
|
IGL01681:Nexn
|
APN |
3 |
151,949,507 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATGCCCTGGTTTTCATTG -3'
(R):5'- TTTCCTGAAAACCTGAACAGCTAC -3'
Sequencing Primer
(F):5'- GATGCCCTGGTTTTCATTGACACAG -3'
(R):5'- CATGAACACATCAATTTCTTGGCAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation