Incidental Mutation 'R0639:Nfasc'
ID 56865
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 038828-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0639 (G1)
Quality Score 205
Status Not validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 132531554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 737 (N737K)
Ref Sequence ENSEMBL: ENSMUSP00000139520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect probably damaging
Transcript: ENSMUST00000043189
AA Change: N722K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: N722K

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 probably damaging
Transcript: ENSMUST00000094569
AA Change: N743K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: N743K

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 damaging
Transcript: ENSMUST00000163770
AA Change: N739K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: N739K

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 possibly damaging
Transcript: ENSMUST00000186389
AA Change: N723K

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186539
Predicted Effect probably damaging
Transcript: ENSMUST00000187861
AA Change: N743K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: N743K

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
Predicted Effect probably damaging
Transcript: ENSMUST00000188307
AA Change: N737K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: N737K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 42 131 1.8e-2 SMART
IG 141 228 1e-9 SMART
IGc2 253 317 6.4e-20 SMART
IGc2 343 409 7e-11 SMART
IGc2 437 502 9.7e-13 SMART
IGc2 528 593 1.1e-7 SMART
FN3 622 705 1e-13 SMART
FN3 722 804 1.4e-8 SMART
FN3 820 890 3.8e-1 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 46,043,999 (GRCm39) W86* probably null Het
Acadl T C 1: 66,896,567 (GRCm39) H75R probably benign Het
Adamtsl1 T C 4: 86,195,380 (GRCm39) F599S probably damaging Het
Adrb3 T C 8: 27,718,293 (GRCm39) N52S probably damaging Het
Agbl3 T A 6: 34,776,640 (GRCm39) L377Q probably damaging Het
Akap9 T C 5: 4,110,318 (GRCm39) L3007P probably damaging Het
Amer3 T A 1: 34,626,902 (GRCm39) Y380* probably null Het
Ankrd13d A T 19: 4,323,047 (GRCm39) probably null Het
Ap4m1 T A 5: 138,174,501 (GRCm39) C235S probably benign Het
Arhgap29 T C 3: 121,801,290 (GRCm39) F675S probably damaging Het
Asah2 C A 19: 31,986,039 (GRCm39) V544F probably damaging Het
Ash2l A G 8: 26,313,319 (GRCm39) I389T possibly damaging Het
Bend5 T C 4: 111,290,495 (GRCm39) S164P probably benign Het
Cacna1d A G 14: 29,893,251 (GRCm39) probably null Het
Cdc25b A G 2: 131,039,182 (GRCm39) N516D probably benign Het
Cdc27 A G 11: 104,422,560 (GRCm39) Y125H probably damaging Het
Cdk5r2 C T 1: 74,894,995 (GRCm39) L247F probably damaging Het
Cenpf C A 1: 189,390,259 (GRCm39) G1191V probably benign Het
Cops4 C T 5: 100,685,326 (GRCm39) T293I possibly damaging Het
Csmd3 A G 15: 47,777,336 (GRCm39) L1294P probably damaging Het
Dclre1a T C 19: 56,526,872 (GRCm39) Y848C probably damaging Het
Disp2 A T 2: 118,621,325 (GRCm39) I686F possibly damaging Het
Dnah6 T A 6: 72,999,395 (GRCm39) Y4012F probably benign Het
Dnajc11 C G 4: 152,054,393 (GRCm39) R200G probably damaging Het
Dnhd1 A T 7: 105,345,671 (GRCm39) D2272V possibly damaging Het
Elane A C 10: 79,722,183 (GRCm39) R5S possibly damaging Het
Entpd7 G A 19: 43,679,533 (GRCm39) V29M probably benign Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Fgl1 G T 8: 41,644,661 (GRCm39) T281K probably benign Het
Flii T C 11: 60,613,823 (GRCm39) probably null Het
Foxn1 T C 11: 78,261,970 (GRCm39) D133G possibly damaging Het
Fzd7 T A 1: 59,523,719 (GRCm39) M534K probably damaging Het
Galnt5 A G 2: 57,889,407 (GRCm39) T336A probably benign Het
Gli3 G A 13: 15,899,300 (GRCm39) D896N probably damaging Het
Gsx1 G T 5: 147,126,756 (GRCm39) W193L probably damaging Het
Gtpbp3 A T 8: 71,945,379 (GRCm39) I485F probably damaging Het
H2-M11 A G 17: 36,858,283 (GRCm39) T26A probably benign Het
Igfbp7 T C 5: 77,499,827 (GRCm39) D243G probably damaging Het
Il31ra A T 13: 112,662,377 (GRCm39) D477E possibly damaging Het
Inmt A C 6: 55,148,212 (GRCm39) V139G probably damaging Het
Inpp5j T A 11: 3,451,147 (GRCm39) M501L probably benign Het
Itsn2 T C 12: 4,762,556 (GRCm39) F1579L probably damaging Het
Kat2b C A 17: 53,874,566 (GRCm39) A70E probably benign Het
Klhl20 T C 1: 160,921,281 (GRCm39) E58G probably damaging Het
Krt79 A T 15: 101,839,983 (GRCm39) Y337* probably null Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Letm1 T C 5: 33,926,770 (GRCm39) I176V possibly damaging Het
Lingo3 C A 10: 80,671,618 (GRCm39) R104L probably benign Het
Lrig3 T G 10: 125,846,090 (GRCm39) C840G probably damaging Het
Lrrc9 A G 12: 72,533,062 (GRCm39) N977S probably damaging Het
Lrrk2 T A 15: 91,657,199 (GRCm39) M1831K probably benign Het
Mn1 A T 5: 111,567,182 (GRCm39) D384V probably damaging Het
Morc3 C A 16: 93,650,738 (GRCm39) H319Q probably damaging Het
Morn1 T C 4: 155,173,960 (GRCm39) F56L possibly damaging Het
Mrpl53 G T 6: 83,086,392 (GRCm39) V64L probably damaging Het
Myo15a T A 11: 60,370,162 (GRCm39) V974D probably benign Het
Neb A G 2: 52,146,136 (GRCm39) V2947A possibly damaging Het
Nlk T C 11: 78,463,103 (GRCm39) D464G possibly damaging Het
Nlrc4 C T 17: 74,733,958 (GRCm39) R985K probably benign Het
Nsun6 T C 2: 15,001,147 (GRCm39) K470E probably benign Het
Nup85 T G 11: 115,455,357 (GRCm39) M1R probably null Het
Or8b39 G A 9: 37,996,666 (GRCm39) C178Y probably damaging Het
Otop1 T C 5: 38,445,292 (GRCm39) V150A possibly damaging Het
Pclo C T 5: 14,731,763 (GRCm39) R296* probably null Het
Pdzd2 A T 15: 12,458,144 (GRCm39) C240S possibly damaging Het
Plekhg5 A G 4: 152,198,577 (GRCm39) T922A probably benign Het
Plekhm2 A C 4: 141,369,381 (GRCm39) L101R probably damaging Het
Plscr3 T A 11: 69,738,820 (GRCm39) C161S probably benign Het
Prr14l C T 5: 32,986,259 (GRCm39) D1079N probably benign Het
Ptpru A T 4: 131,498,490 (GRCm39) V1377E possibly damaging Het
Rab37 C A 11: 115,049,528 (GRCm39) D112E probably benign Het
Raet1e T A 10: 22,050,274 (GRCm39) I19N probably damaging Het
Rassf5 T C 1: 131,172,803 (GRCm39) Y22C probably damaging Het
Rp1 T C 1: 4,416,721 (GRCm39) T1464A probably benign Het
Safb T A 17: 56,908,092 (GRCm39) probably benign Het
Scarf2 A G 16: 17,624,369 (GRCm39) probably null Het
Scart2 A G 7: 139,827,872 (GRCm39) N27D probably benign Het
Sh3d19 T C 3: 86,014,280 (GRCm39) S415P probably benign Het
Slc26a9 T A 1: 131,691,542 (GRCm39) L595Q probably damaging Het
Slc4a8 T C 15: 100,694,431 (GRCm39) Y470H probably damaging Het
Slitrk3 T C 3: 72,956,982 (GRCm39) N597D probably benign Het
Spata31 T A 13: 65,070,027 (GRCm39) V725E probably benign Het
Spink12 T A 18: 44,240,831 (GRCm39) C72* probably null Het
Spink5 T A 18: 44,146,042 (GRCm39) probably null Het
Stk40 C A 4: 126,012,125 (GRCm39) S9* probably null Het
Sypl1 A T 12: 33,015,420 (GRCm39) T40S probably damaging Het
Tbc1d8 C T 1: 39,430,290 (GRCm39) E438K probably benign Het
Tdrd7 A G 4: 45,989,102 (GRCm39) T111A probably benign Het
Tg A T 15: 66,613,333 (GRCm39) probably null Het
Tlr5 T A 1: 182,801,454 (GRCm39) W253R probably damaging Het
Tmprss11c C T 5: 86,383,328 (GRCm39) C353Y probably damaging Het
Tnfrsf8 T A 4: 145,014,597 (GRCm39) M271L probably benign Het
Toe1 T C 4: 116,663,947 (GRCm39) N21S probably benign Het
Tpp2 T C 1: 44,014,607 (GRCm39) F649L probably benign Het
Ttll1 G A 15: 83,386,426 (GRCm39) Q60* probably null Het
Vcp C T 4: 42,982,565 (GRCm39) R709Q probably benign Het
Vmn1r119 T A 7: 20,745,593 (GRCm39) H263L possibly damaging Het
Vmn1r195 C A 13: 22,463,111 (GRCm39) Q194K probably damaging Het
Vmn1r33 T C 6: 66,588,783 (GRCm39) Y257C probably damaging Het
Vmn2r15 A G 5: 109,440,881 (GRCm39) F326L probably benign Het
Wbp11 A T 6: 136,793,108 (GRCm39) probably benign Het
Wwp2 T G 8: 108,244,578 (GRCm39) V250G probably benign Het
Xpnpep3 T C 15: 81,315,038 (GRCm39) V246A probably benign Het
Zcchc14 G A 8: 122,332,188 (GRCm39) R419* probably null 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
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
R2239:Nfasc UTSW 1 132,510,760 (GRCm39) intron probably benign
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'- TCAGAGGACAGTGGTCCCAGTTAG -3'
(R):5'- GTAGAAATGCTTGCCCCACAAACG -3'

Sequencing Primer
(F):5'- ttgggggtggggaggtg -3'
(R):5'- GCGTTATGATAAGCTCTAACTCAGC -3'
Posted On 2013-07-11