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) question?
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

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 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

DomainStartEndE-ValueType
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

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 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

DomainStartEndE-ValueType
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

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: R113S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: R113S

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 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

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 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

DomainStartEndE-ValueType
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

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198404
Meta Mutation Damage Score 0.0642 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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