Incidental Mutation 'R1903:Nexn'
ID 209896
Institutional Source Beutler Lab
Gene Symbol Nexn
Ensembl Gene ENSMUSG00000039103
Gene Name nexilin
Synonyms 1110046H09Rik, nF actin binding protein
MMRRC Submission 039923-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R1903 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 151942619-151971987 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151953818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 212 (M212K)
Ref Sequence ENSEMBL: ENSMUSP00000142559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046045] [ENSMUST00000196504] [ENSMUST00000196815] [ENSMUST00000198460] [ENSMUST00000198750] [ENSMUST00000198648] [ENSMUST00000200589] [ENSMUST00000199423] [ENSMUST00000199685] [ENSMUST00000199470]
AlphaFold Q7TPW1
Predicted Effect probably benign
Transcript: ENSMUST00000046045
AA Change: M162K

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037120
Gene: ENSMUSG00000039103
AA Change: M162K

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: M162K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143180
Gene: ENSMUSG00000039103
AA Change: M162K

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000196529
AA Change: M28K
Predicted Effect probably benign
Transcript: ENSMUST00000196815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197507
Predicted Effect possibly damaging
Transcript: ENSMUST00000198460
AA Change: M212K

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143573
Gene: ENSMUSG00000039103
AA Change: M212K

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: ENSMUST00000198750
AA Change: M148K

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142574
Gene: ENSMUSG00000039103
AA Change: M148K

DomainStartEndE-ValueType
coiled coil region 40 86 N/A INTRINSIC
coiled coil region 162 269 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000198648
AA Change: M162K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143294
Gene: ENSMUSG00000039103
AA Change: M162K

DomainStartEndE-ValueType
coiled coil region 40 92 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200589
AA Change: M212K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142559
Gene: ENSMUSG00000039103
AA Change: M212K

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 probably benign
Transcript: ENSMUST00000199423
AA Change: M226K

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142936
Gene: ENSMUSG00000039103
AA Change: M226K

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: ENSMUST00000198404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199983
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: 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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.8%
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,165,635 (GRCm39) S246R possibly damaging Het
Abca13 C T 11: 9,416,411 (GRCm39) R4058C probably benign Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adam22 C T 5: 8,184,525 (GRCm39) C489Y probably damaging Het
Agap3 A T 5: 24,698,011 (GRCm39) K460I probably damaging Het
Ak4 T C 4: 101,320,833 (GRCm39) I214T possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arrb2 T A 11: 70,328,808 (GRCm39) H221Q probably damaging Het
Atl1 T G 12: 70,006,049 (GRCm39) F452V probably damaging Het
Atp8b5 A G 4: 43,357,063 (GRCm39) T604A probably damaging Het
Bglap3 T C 3: 88,276,068 (GRCm39) I95V probably benign Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Ccnl1 A G 3: 65,854,332 (GRCm39) S430P possibly damaging Het
Cdhr18 C T 14: 13,829,657 (GRCm38) S695N possibly damaging Het
Cdk5rap2 A T 4: 70,321,791 (GRCm39) probably null Het
Cep126 A T 9: 8,120,748 (GRCm39) Y92N possibly damaging Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnga1 T G 5: 72,774,068 (GRCm39) D90A possibly damaging Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Coq3 T C 4: 21,910,466 (GRCm39) S314P probably damaging Het
Crhr1 A G 11: 104,060,675 (GRCm39) R151G probably damaging Het
Crybg2 A G 4: 133,806,167 (GRCm39) I930V probably damaging Het
Ctcf T A 8: 106,402,620 (GRCm39) probably null Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Decr2 A T 17: 26,306,387 (GRCm39) L83Q probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnajc13 A C 9: 104,106,136 (GRCm39) L346R probably damaging Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
Duox2 T A 2: 122,125,832 (GRCm39) I296F probably damaging Het
Ece2 T A 16: 20,463,922 (GRCm39) L890H probably damaging Het
Ecsit A G 9: 21,987,815 (GRCm39) S75P possibly damaging Het
Enpp3 A G 10: 24,654,687 (GRCm39) C664R probably damaging Het
Evpl G T 11: 116,117,854 (GRCm39) D778E probably damaging Het
Eya3 T A 4: 132,448,663 (GRCm39) probably null Het
Fam217b A T 2: 178,062,374 (GRCm39) I113F probably benign Het
Galnt6 G A 15: 100,613,999 (GRCm39) P101S possibly damaging Het
Gm379 G A X: 107,707,870 (GRCm39) Q210* probably null Het
Grk4 A T 5: 34,833,531 (GRCm39) probably null Het
Gtf3c4 A G 2: 28,729,968 (GRCm39) V91A probably benign Het
Hcfc2 G T 10: 82,538,392 (GRCm39) G143V probably damaging Het
Heatr4 A C 12: 84,005,221 (GRCm39) H710Q probably damaging Het
Htr3a A T 9: 48,817,681 (GRCm39) D97E probably damaging Het
Htr4 T G 18: 62,561,193 (GRCm39) F151L probably benign Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Invs T A 4: 48,402,824 (GRCm39) probably null Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irs1 T C 1: 82,267,182 (GRCm39) S345G probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif26a C T 12: 112,141,974 (GRCm39) R743C probably damaging Het
Kif28 A G 1: 179,530,088 (GRCm39) V691A possibly damaging Het
Klhl5 T A 5: 65,324,330 (GRCm39) L696Q probably benign Het
Krtap5-1 T C 7: 141,850,084 (GRCm39) probably benign Het
Lama2 A C 10: 27,064,395 (GRCm39) D1195E probably damaging Het
Lamb1 T G 12: 31,379,209 (GRCm39) L1722R probably damaging Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Ltbp2 T C 12: 84,876,879 (GRCm39) E422G probably benign Het
Man2b1 T A 8: 85,813,451 (GRCm39) D214E probably damaging Het
Mlxipl A T 5: 135,162,422 (GRCm39) D628V possibly damaging Het
Msantd5f6 T A 4: 73,321,675 (GRCm39) Y120F probably damaging Het
Myo18b G A 5: 112,840,624 (GRCm39) R2390C probably damaging Het
Mypn T A 10: 62,959,176 (GRCm39) R1048S probably benign Het
Napepld A G 5: 21,870,270 (GRCm39) S383P probably damaging Het
Napsa A G 7: 44,231,160 (GRCm39) T130A probably damaging Het
Nbr1 T C 11: 101,465,978 (GRCm39) I716T probably damaging Het
Nlrp9b T A 7: 19,757,182 (GRCm39) S140T probably benign Het
Nxpe2 T C 9: 48,230,906 (GRCm39) T488A probably benign Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or10v1 A T 19: 11,873,913 (GRCm39) Y176F probably benign Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or7g12 A T 9: 18,900,192 (GRCm39) K303* probably null Het
Or8k20 C T 2: 86,106,190 (GRCm39) V214I probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pan2 T G 10: 128,144,237 (GRCm39) L162R probably damaging Het
Parp1 G T 1: 180,416,235 (GRCm39) V545F probably damaging Het
Pcdh18 A G 3: 49,709,896 (GRCm39) V473A probably benign Het
Plb1 A T 5: 32,448,582 (GRCm39) N350I probably damaging Het
Polr1a A G 6: 71,944,898 (GRCm39) K1318R probably benign Het
Ppp1r18 C T 17: 36,184,738 (GRCm39) P130S probably damaging Het
Prss48 C T 3: 85,905,614 (GRCm39) W86* probably null Het
Rab3c A T 13: 110,220,744 (GRCm39) I137N probably damaging Het
Rab3gap2 G C 1: 184,954,099 (GRCm39) R57P probably benign Het
Rad54l2 A C 9: 106,570,916 (GRCm39) probably null Het
Ralgapb C A 2: 158,337,483 (GRCm39) N1147K probably benign Het
Rfx7 C T 9: 72,524,093 (GRCm39) R428C probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Shprh T A 10: 11,059,541 (GRCm39) Y1097* probably null Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc24a4 T A 12: 102,097,876 (GRCm39) D79E probably benign Het
Slc7a13 A T 4: 19,839,254 (GRCm39) I286F probably benign Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Spata31d1b T C 13: 59,865,882 (GRCm39) L1010P probably damaging Het
Sult2a1 T C 7: 13,569,900 (GRCm39) S111G possibly damaging Het
Tecpr2 C T 12: 110,914,346 (GRCm39) T1219M probably damaging Het
Tesk1 T C 4: 43,446,998 (GRCm39) M462T probably benign Het
Thoc2l T A 5: 104,666,196 (GRCm39) S239R probably benign Het
Tmem171 C A 13: 98,822,924 (GRCm39) G292* probably null Het
Tmtc2 G T 10: 105,025,969 (GRCm39) T833N probably benign Het
Tnc G T 4: 63,918,299 (GRCm39) T1204K probably benign Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Tnrc18 G A 5: 142,800,895 (GRCm39) S21F probably damaging Het
Tns4 T C 11: 98,966,401 (GRCm39) T425A probably damaging Het
Tox T A 4: 6,688,948 (GRCm39) Y472F probably damaging Het
Trak2 A T 1: 58,958,014 (GRCm39) probably null Het
Trim33 T A 3: 103,244,760 (GRCm39) Y716N probably damaging Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Ube2j2 A G 4: 156,033,483 (GRCm39) K19R probably benign Het
Ubxn2b T C 4: 6,208,889 (GRCm39) I206T possibly damaging Het
Usp40 A G 1: 87,909,778 (GRCm39) F559L probably benign Het
Utp4 T A 8: 107,638,982 (GRCm39) probably null Het
Vac14 A G 8: 111,409,166 (GRCm39) N524S probably benign Het
Vps13c T C 9: 67,801,334 (GRCm39) S605P probably damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zdhhc19 C T 16: 32,317,231 (GRCm39) R28* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zfp189 C T 4: 49,529,511 (GRCm39) Q205* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CAGATACTTGCCATGTGCCTTC -3'
(R):5'- TACTTATAACAGTGGTACCTGCC -3'

Sequencing Primer
(F):5'- CAAAGGAACGTCTCTCTTCTTCTAAG -3'
(R):5'- CTTATAACAGTGGTACCTGCCAAATC -3'
Posted On 2014-06-30