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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198750
SMART Domains Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200589
SMART Domains Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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