Incidental Mutation 'R2239:Nfasc'
ID 240513
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 040239-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2239 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 132510760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861]
AlphaFold Q810U3
Predicted Effect probably benign
Transcript: ENSMUST00000043189
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 42 131 4.5e0 SMART
IG 141 228 2.44e-7 SMART
IGc2 253 317 1.53e-17 SMART
IGc2 343 409 1.76e-8 SMART
IGc2 437 502 2.39e-10 SMART
IGc2 528 593 2.54e-5 SMART
FN3 607 690 2.17e-11 SMART
FN3 707 789 2.85e-6 SMART
FN3 805 896 2.21e-3 SMART
FN3 911 995 9.92e-6 SMART
low complexity region 996 1018 N/A INTRINSIC
transmembrane domain 1026 1048 N/A INTRINSIC
Pfam:Bravo_FIGEY 1049 1133 1.4e-29 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000094569
AA Change: T1088A
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: T1088A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 48 137 4.5e0 SMART
IG 147 234 2.44e-7 SMART
IGc2 259 323 1.53e-17 SMART
IGc2 349 415 1.76e-8 SMART
IGc2 443 508 2.39e-10 SMART
IGc2 534 599 2.54e-5 SMART
FN3 628 711 2.17e-11 SMART
FN3 728 810 2.85e-6 SMART
FN3 825 909 9.92e-6 SMART
FN3 1010 1086 6.91e-5 SMART
transmembrane domain 1109 1131 N/A INTRINSIC
Pfam:Bravo_FIGEY 1132 1216 2.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163770
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 42 131 4.5e0 SMART
IG 141 228 2.44e-7 SMART
IGc2 270 334 1.53e-17 SMART
IGc2 360 426 1.76e-8 SMART
IGc2 454 519 2.39e-10 SMART
IGc2 545 610 2.54e-5 SMART
FN3 624 707 2.17e-11 SMART
FN3 724 806 2.85e-6 SMART
FN3 822 913 2.21e-3 SMART
FN3 928 1012 9.92e-6 SMART
low complexity region 1013 1035 N/A INTRINSIC
transmembrane domain 1043 1065 N/A INTRINSIC
Pfam:Bravo_FIGEY 1066 1150 5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186330
Predicted Effect probably benign
Transcript: ENSMUST00000186389
Predicted Effect unknown
Transcript: ENSMUST00000187861
AA Change: T1195A
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: T1195A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 48 137 1.8e-2 SMART
IG 147 234 1e-9 SMART
IGc2 259 323 6.4e-20 SMART
IGc2 349 415 7e-11 SMART
IGc2 443 508 9.7e-13 SMART
IGc2 534 599 1.1e-7 SMART
FN3 628 711 1e-13 SMART
FN3 728 810 1.4e-8 SMART
FN3 826 917 1.1e-5 SMART
FN3 932 1016 4.8e-8 SMART
FN3 1117 1193 3.4e-7 SMART
transmembrane domain 1216 1238 N/A INTRINSIC
Pfam:Bravo_FIGEY 1239 1325 2.6e-26 PFAM
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 94% (68/72)
MGI Phenotype FUNCTION: This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for a null allele die within 6 to 7 days of birth, exhibit reduced nerve conduction velocity and abnormal paranodal junction formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Ago3 G A 4: 126,262,315 (GRCm39) R412C probably damaging Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arl10 G T 13: 54,722,962 (GRCm39) V19L probably benign Het
Aspm T A 1: 139,384,584 (GRCm39) I127K possibly damaging Het
Atp8b3 A G 10: 80,366,822 (GRCm39) C259R probably damaging Het
Camk2g A G 14: 20,789,455 (GRCm39) I205T probably damaging Het
Ccdc47 G T 11: 106,092,960 (GRCm39) N100K possibly damaging Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdc37 G A 9: 21,053,829 (GRCm39) Q176* probably null Het
Cdh5 C A 8: 104,852,304 (GRCm39) H140N possibly damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Cnnm4 T A 1: 36,544,759 (GRCm39) S673T probably benign Het
Cnot1 T C 8: 96,496,149 (GRCm39) I342V probably benign Het
Cog8 C A 8: 107,782,993 (GRCm39) G99W probably damaging Het
Dars2 T C 1: 160,890,852 (GRCm39) T120A possibly damaging Het
Dnah7b C A 1: 46,240,344 (GRCm39) probably benign Het
Emilin2 T A 17: 71,617,219 (GRCm39) Q64L probably benign Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Exoc1 T C 5: 76,707,557 (GRCm39) probably benign Het
Fam186a C T 15: 99,852,745 (GRCm39) V158M unknown Het
Fryl A G 5: 73,265,890 (GRCm39) L477P probably damaging Het
Gbf1 T C 19: 46,152,057 (GRCm39) I30T probably benign Het
Hsd17b1 A T 11: 100,969,289 (GRCm39) I8F probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Ift88 A G 14: 57,692,961 (GRCm39) I387V probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kdm1b T A 13: 47,227,231 (GRCm39) F574L probably damaging Het
Kdm6a T C X: 18,065,476 (GRCm39) F104S probably damaging Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
Lgr4 T C 2: 109,842,738 (GRCm39) Y908H probably damaging Het
Ltbp3 C A 19: 5,801,551 (GRCm39) C698* probably null Het
Map3k1 A C 13: 111,885,478 (GRCm39) S1480A probably benign Het
Map7 A T 10: 20,154,028 (GRCm39) N715Y unknown Het
Morn4 A G 19: 42,066,471 (GRCm39) Y39H possibly damaging Het
Myh14 A T 7: 44,314,607 (GRCm39) D105E probably damaging Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or2aa1 A G 11: 59,480,097 (GRCm39) S273P possibly damaging Het
Or5ac23 T A 16: 59,149,738 (GRCm39) I45F probably damaging Het
Or5b109 T C 19: 13,212,085 (GRCm39) V157A probably benign Het
Or5l13 T C 2: 87,779,741 (GRCm39) T279A probably damaging Het
P4hb A G 11: 120,454,108 (GRCm39) Y329H probably damaging Het
Papolg A G 11: 23,826,378 (GRCm39) Y259H probably damaging Het
Pcgf5 A T 19: 36,414,754 (GRCm39) N105I probably damaging Het
Pde4a G A 9: 21,122,564 (GRCm39) C820Y probably damaging Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Phrf1 A G 7: 140,817,605 (GRCm39) E138G probably damaging Het
Rgs3 A T 4: 62,544,124 (GRCm39) T299S probably benign Het
Skint5 G A 4: 113,403,733 (GRCm39) T1163I unknown Het
Slc16a8 T C 15: 79,137,147 (GRCm39) M88V probably damaging Het
Slc35f4 A G 14: 49,543,660 (GRCm39) probably null Het
Smr2l T G 5: 88,430,413 (GRCm39) M103R probably benign Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tet1 T C 10: 62,715,513 (GRCm39) D94G probably benign Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Trmt5 A G 12: 73,331,888 (GRCm39) I4T probably benign Het
Ttc7b A G 12: 100,321,260 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C A 1: 188,308,411 (GRCm39) T2020K probably benign Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown Het
Other mutations in Nfasc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00895:Nfasc APN 1 132,501,536 (GRCm39) nonsense probably null
IGL01088:Nfasc APN 1 132,570,514 (GRCm39) utr 5 prime probably benign
IGL01958:Nfasc APN 1 132,536,176 (GRCm39) nonsense probably null
IGL01999:Nfasc APN 1 132,532,985 (GRCm39) splice site probably benign
IGL02170:Nfasc APN 1 132,538,104 (GRCm39) nonsense probably null
IGL02187:Nfasc APN 1 132,498,219 (GRCm39) missense probably damaging 1.00
IGL02192:Nfasc APN 1 132,498,219 (GRCm39) missense probably damaging 1.00
IGL02452:Nfasc APN 1 132,548,662 (GRCm39) critical splice donor site probably null
IGL02698:Nfasc APN 1 132,562,475 (GRCm39) missense probably benign 0.06
IGL02797:Nfasc APN 1 132,538,186 (GRCm39) missense probably damaging 1.00
IGL03000:Nfasc APN 1 132,549,247 (GRCm39) splice site probably benign
IGL03027:Nfasc APN 1 132,538,207 (GRCm39) missense probably damaging 1.00
Fascist UTSW 1 132,539,343 (GRCm39) missense probably damaging 1.00
jiggle UTSW 1 132,529,759 (GRCm39) missense probably damaging 1.00
Partisan UTSW 1 132,533,287 (GRCm39) missense probably damaging 1.00
Tremble UTSW 1 132,539,333 (GRCm39) missense probably damaging 1.00
PIT4377001:Nfasc UTSW 1 132,510,804 (GRCm39) missense unknown
R0240:Nfasc UTSW 1 132,529,721 (GRCm39) missense probably damaging 1.00
R0240:Nfasc UTSW 1 132,529,721 (GRCm39) missense probably damaging 1.00
R0241:Nfasc UTSW 1 132,564,731 (GRCm39) missense probably benign 0.02
R0241:Nfasc UTSW 1 132,564,731 (GRCm39) missense probably benign 0.02
R0418:Nfasc UTSW 1 132,539,333 (GRCm39) missense probably damaging 1.00
R0513:Nfasc UTSW 1 132,531,584 (GRCm39) missense possibly damaging 0.95
R0639:Nfasc UTSW 1 132,531,554 (GRCm39) missense probably damaging 1.00
R0646:Nfasc UTSW 1 132,536,176 (GRCm39) nonsense probably null
R1103:Nfasc UTSW 1 132,534,795 (GRCm39) splice site probably benign
R1269:Nfasc UTSW 1 132,538,526 (GRCm39) missense probably damaging 1.00
R1550:Nfasc UTSW 1 132,536,241 (GRCm39) missense probably damaging 0.96
R1749:Nfasc UTSW 1 132,539,370 (GRCm39) missense probably damaging 1.00
R1773:Nfasc UTSW 1 132,538,577 (GRCm39) missense probably damaging 1.00
R1921:Nfasc UTSW 1 132,538,543 (GRCm39) missense probably damaging 1.00
R1987:Nfasc UTSW 1 132,538,624 (GRCm39) missense probably damaging 1.00
R2141:Nfasc UTSW 1 132,524,383 (GRCm39) missense probably damaging 1.00
R2413:Nfasc UTSW 1 132,523,243 (GRCm39) missense probably damaging 1.00
R2428:Nfasc UTSW 1 132,523,392 (GRCm39) missense possibly damaging 0.55
R2472:Nfasc UTSW 1 132,515,959 (GRCm39) intron probably benign
R2517:Nfasc UTSW 1 132,525,501 (GRCm39) splice site probably null
R3850:Nfasc UTSW 1 132,559,471 (GRCm39) missense probably damaging 1.00
R4050:Nfasc UTSW 1 132,538,043 (GRCm39) splice site probably benign
R4061:Nfasc UTSW 1 132,525,583 (GRCm39) missense probably damaging 1.00
R4088:Nfasc UTSW 1 132,523,329 (GRCm39) missense probably damaging 1.00
R4342:Nfasc UTSW 1 132,559,443 (GRCm39) missense probably damaging 1.00
R4343:Nfasc UTSW 1 132,559,443 (GRCm39) missense probably damaging 1.00
R4345:Nfasc UTSW 1 132,559,443 (GRCm39) missense probably damaging 1.00
R4452:Nfasc UTSW 1 132,562,409 (GRCm39) missense probably damaging 1.00
R4818:Nfasc UTSW 1 132,531,568 (GRCm39) missense possibly damaging 0.87
R4851:Nfasc UTSW 1 132,529,759 (GRCm39) missense probably damaging 1.00
R5014:Nfasc UTSW 1 132,512,185 (GRCm39) intron probably benign
R5768:Nfasc UTSW 1 132,532,883 (GRCm39) missense probably benign 0.00
R6145:Nfasc UTSW 1 132,562,455 (GRCm39) missense probably damaging 1.00
R6335:Nfasc UTSW 1 132,504,132 (GRCm39) missense probably damaging 0.98
R6379:Nfasc UTSW 1 132,498,280 (GRCm39) nonsense probably null
R6486:Nfasc UTSW 1 132,532,952 (GRCm39) missense probably damaging 1.00
R7022:Nfasc UTSW 1 132,548,787 (GRCm39) missense probably damaging 1.00
R7062:Nfasc UTSW 1 132,529,707 (GRCm39) critical splice donor site probably null
R7084:Nfasc UTSW 1 132,498,247 (GRCm39) missense unknown
R7275:Nfasc UTSW 1 132,562,001 (GRCm39) missense probably damaging 1.00
R7286:Nfasc UTSW 1 132,529,790 (GRCm39) missense probably damaging 1.00
R7682:Nfasc UTSW 1 132,501,511 (GRCm39) missense unknown
R7838:Nfasc UTSW 1 132,533,287 (GRCm39) missense probably damaging 1.00
R7871:Nfasc UTSW 1 132,527,751 (GRCm39) missense not run
R7938:Nfasc UTSW 1 132,533,269 (GRCm39) missense probably damaging 1.00
R8083:Nfasc UTSW 1 132,524,320 (GRCm39) missense probably benign 0.00
R8482:Nfasc UTSW 1 132,532,827 (GRCm39) missense probably damaging 1.00
R9027:Nfasc UTSW 1 132,539,343 (GRCm39) missense probably damaging 1.00
R9164:Nfasc UTSW 1 132,562,544 (GRCm39) missense probably damaging 1.00
R9488:Nfasc UTSW 1 132,527,866 (GRCm39) missense possibly damaging 0.68
R9651:Nfasc UTSW 1 132,527,791 (GRCm39) missense probably benign 0.04
Z1176:Nfasc UTSW 1 132,562,376 (GRCm39) missense probably benign 0.00
Z1177:Nfasc UTSW 1 132,559,576 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACACCTGACTGCTTCTG -3'
(R):5'- GCCTCTGACAGATAAACAGGAACG -3'

Sequencing Primer
(F):5'- TGACTTCCTCCAGGTCAGAGAC -3'
(R):5'- GGAACGTAAACATTCTCTCCAGCTC -3'
Posted On 2014-10-15