Incidental Mutation 'R8359:Nexn'
ID 645905
Institutional Source Beutler Lab
Gene Symbol Nexn
Ensembl Gene ENSMUSG00000039103
Gene Name nexilin
Synonyms 1110046H09Rik, nF actin binding protein
MMRRC Submission 067872-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R8359 (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 151953998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 166 (D166V)
Ref Sequence ENSEMBL: ENSMUSP00000142936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000196504] [ENSMUST00000196815] [ENSMUST00000198460] [ENSMUST00000198648] [ENSMUST00000198750] [ENSMUST00000199423] [ENSMUST00000199470] [ENSMUST00000199685] [ENSMUST00000200589]
AlphaFold Q7TPW1
Predicted Effect possibly damaging
Transcript: ENSMUST00000046045
AA Change: D102V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: D102V

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 possibly damaging
Transcript: ENSMUST00000196504
AA Change: D102V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143180
Gene: ENSMUSG00000039103
AA Change: D102V

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196529
Predicted Effect probably benign
Transcript: ENSMUST00000196815
Predicted Effect possibly damaging
Transcript: ENSMUST00000198460
AA Change: D152V

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: D152V

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: ENSMUST00000198648
AA Change: D102V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143294
Gene: ENSMUSG00000039103
AA Change: D102V

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198750
AA Change: D88V

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103
AA Change: D88V

DomainStartEndE-ValueType
coiled coil region 40 86 N/A INTRINSIC
coiled coil region 162 269 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199423
AA Change: D166V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: D166V

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 probably benign
Transcript: ENSMUST00000199470
SMART Domains Protein: ENSMUSP00000143133
Gene: ENSMUSG00000039103

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: ENSMUST00000199685
AA Change: D102V

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142569
Gene: ENSMUSG00000039103
AA Change: D102V

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200589
AA Change: D152V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103
AA Change: D152V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,296,502 (GRCm39) V315D probably damaging Het
Adgrf1 A T 17: 43,621,286 (GRCm39) I508F probably damaging Het
Atpaf2 T C 11: 60,298,129 (GRCm39) D147G probably damaging Het
Brwd1 T C 16: 95,817,409 (GRCm39) T1368A probably damaging Het
Cacna1s A T 1: 136,043,799 (GRCm39) E1626V probably benign Het
Carm1 G A 9: 21,480,765 (GRCm39) V80I possibly damaging Het
Cenpw T A 10: 30,074,484 (GRCm39) D71V probably damaging Het
Cit T A 5: 116,122,603 (GRCm39) probably null Het
Ckmt1 A T 2: 121,193,531 (GRCm39) T364S probably benign Het
Col6a4 T C 9: 105,945,583 (GRCm39) S844G probably benign Het
Crybg1 T C 10: 43,868,538 (GRCm39) E1380G probably benign Het
Cyp21a1 A G 17: 35,021,105 (GRCm39) probably null Het
Dhodh A C 8: 110,333,038 (GRCm39) D12E probably benign Het
Dnali1 T A 4: 124,957,460 (GRCm39) T95S probably damaging Het
Dynlrb1 A G 2: 155,091,870 (GRCm39) N93D probably benign Het
Edem1 C T 6: 108,823,774 (GRCm39) A390V probably benign Het
Enthd1 T C 15: 80,358,356 (GRCm39) D388G probably benign Het
Fam170a A G 18: 50,414,677 (GRCm39) T108A probably damaging Het
Fryl A G 5: 73,233,276 (GRCm39) S1531P probably benign Het
Golm2 A T 2: 121,697,632 (GRCm39) probably benign Het
Hspbap1 C A 16: 35,645,366 (GRCm39) N350K probably benign Het
Htr3b A C 9: 48,858,596 (GRCm39) S94R probably damaging Het
Ide A T 19: 37,307,886 (GRCm39) V42E Het
Igf2r A G 17: 12,902,748 (GRCm39) V2434A probably benign Het
Katnip T C 7: 125,468,023 (GRCm39) probably null Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Mccc1 C T 3: 36,018,493 (GRCm39) V614I probably benign Het
Mos A G 4: 3,871,097 (GRCm39) Y240H probably damaging Het
Myh11 C T 16: 14,026,095 (GRCm39) probably null Het
Or10h1b G A 17: 33,395,895 (GRCm39) C173Y probably damaging Het
Or2t47 G T 11: 58,443,029 (GRCm39) T12N probably benign Het
Or4p4 A T 2: 88,483,332 (GRCm39) M279L probably benign Het
Or5p81 T A 7: 108,267,518 (GRCm39) N298K probably benign Het
Pkp4 A G 2: 59,180,895 (GRCm39) Y1061C probably damaging Het
Pla2g6 T C 15: 79,171,370 (GRCm39) D740G probably damaging Het
Pla2r1 T A 2: 60,273,627 (GRCm39) I920L probably benign Het
Plekha2 A G 8: 25,578,407 (GRCm39) I31T probably damaging Het
Ppp1r16b G T 2: 158,603,295 (GRCm39) V407L probably benign Het
Prss50 A G 9: 110,691,370 (GRCm39) I225V probably damaging Het
Rmdn2 A T 17: 79,935,580 (GRCm39) E231V Het
Sema3c T C 5: 17,858,726 (GRCm39) S42P possibly damaging Het
Sh2d1b1 T A 1: 170,110,693 (GRCm39) probably null Het
Slc22a20 T C 19: 6,021,554 (GRCm39) I483V probably benign Het
Slc30a2 T C 4: 134,076,690 (GRCm39) V275A probably damaging Het
Slc6a3 T A 13: 73,693,002 (GRCm39) F207L probably benign Het
Slc9a1 A T 4: 133,147,927 (GRCm39) Q648H probably damaging Het
Slpi A T 2: 164,197,975 (GRCm39) M1K probably null Het
Smc5 A C 19: 23,211,443 (GRCm39) S564A possibly damaging Het
Smchd1 A T 17: 71,738,238 (GRCm39) F542L probably damaging Het
Sycp1 T A 3: 102,727,909 (GRCm39) K901N probably damaging Het
Synpo2l T A 14: 20,716,208 (GRCm39) T126S probably benign Het
Upp2 A G 2: 58,667,955 (GRCm39) N216S probably benign Het
Wnk1 T C 6: 119,969,408 (GRCm39) D349G probably damaging Het
Zfp180 C T 7: 23,804,337 (GRCm39) A252V probably benign Het
Zfr2 C T 10: 81,078,653 (GRCm39) T295I possibly damaging Het
Zkscan16 C T 4: 58,957,230 (GRCm39) T504I possibly damaging Het
Other mutations in Nexn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAAACTTGTTACCCAAAGGGC -3'
(R):5'- GACTGCTCCTTGAAACTGCCATC -3'

Sequencing Primer
(F):5'- CCAAAGGGCAATTGTTAAACTAAAC -3'
(R):5'- CTGATTCATGCATAGTGAGTTTAGAG -3'
Posted On 2020-09-02