Incidental Mutation 'R4593:Nexn'
ID |
344203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nexn
|
Ensembl Gene |
ENSMUSG00000039103 |
Gene Name |
nexilin |
Synonyms |
1110046H09Rik, nF actin binding protein |
MMRRC Submission |
041809-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.392)
|
Stock # |
R4593 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
151942619-151971987 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 151958553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 113
(R113S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142559
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046045]
[ENSMUST00000196504]
[ENSMUST00000196815]
[ENSMUST00000198460]
[ENSMUST00000198648]
[ENSMUST00000198750]
[ENSMUST00000199423]
[ENSMUST00000199470]
[ENSMUST00000199685]
[ENSMUST00000200589]
|
AlphaFold |
Q7TPW1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046045
AA Change: R49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037120 Gene: ENSMUSG00000039103 AA Change: R49S
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 damaging
Transcript: ENSMUST00000196504
AA Change: R49S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143180 Gene: ENSMUSG00000039103 AA Change: R49S
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196529
|
Predicted Effect |
unknown
Transcript: ENSMUST00000196815
AA Change: D23V
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199752
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198460
AA Change: R113S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143573 Gene: ENSMUSG00000039103 AA Change: R113S
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 |
probably damaging
Transcript: ENSMUST00000198648
AA Change: R49S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000143294 Gene: ENSMUSG00000039103 AA Change: R49S
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198750
AA Change: R49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142574 Gene: ENSMUSG00000039103 AA Change: R49S
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 damaging
Transcript: ENSMUST00000199423
AA Change: R113S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142936 Gene: ENSMUSG00000039103 AA Change: R113S
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 |
possibly damaging
Transcript: ENSMUST00000199470
AA Change: R113S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143133 Gene: ENSMUSG00000039103 AA Change: R113S
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 damaging
Transcript: ENSMUST00000199685
AA Change: R49S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142569 Gene: ENSMUSG00000039103 AA Change: R49S
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000200589
AA Change: R113S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142559 Gene: ENSMUSG00000039103 AA Change: R113S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198404
|
Meta Mutation Damage Score |
0.0642 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (45/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAACGGACGTGAATATTTTCC -3'
(R):5'- TGATGATGAGGAAGAAAGTTCTCC -3'
Sequencing Primer
(F):5'- AGCAACATCCTGATTAGTTCTCG -3'
(R):5'- CCTAAAATAGAAAAGGCTTATGTCCC -3'
|
Posted On |
2015-09-25 |