Incidental Mutation 'R4342:Nfasc'
ID 324151
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132559443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 229 (F229S)
Ref Sequence ENSEMBL: ENSMUSP00000139955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect possibly damaging
Transcript: ENSMUST00000043189
AA Change: F223S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: F223S

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: F229S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: F229S

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: F223S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: F223S

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 unknown
Transcript: ENSMUST00000186389
AA Change: F192S
Predicted Effect probably damaging
Transcript: ENSMUST00000187861
AA Change: F229S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: F229S

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: F223S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: F223S

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
Meta Mutation Damage Score 0.5820 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,421 (GRCm39) C488R probably benign Het
Adamts19 A T 18: 59,075,572 (GRCm39) H489L probably damaging Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Ajm1 A G 2: 25,469,120 (GRCm39) Y264H possibly damaging Het
Arhgap44 G A 11: 64,902,887 (GRCm39) R401* probably null Het
Cbx3-ps2 T C 13: 65,707,502 (GRCm39) noncoding transcript Het
Ccdc174 T A 6: 91,862,337 (GRCm39) L86* probably null Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cers4 T C 8: 4,571,223 (GRCm39) L264P probably damaging Het
Cldn23 A G 8: 36,292,652 (GRCm39) S279P probably benign Het
Cth T A 3: 157,630,613 (GRCm39) T19S probably damaging Het
Dnajc22 T A 15: 99,002,345 (GRCm39) L330* probably null Het
Epas1 G A 17: 87,131,228 (GRCm39) C336Y probably damaging Het
Evi5l A C 8: 4,233,492 (GRCm39) probably benign Het
Fbxl2 A T 9: 113,814,374 (GRCm39) H272Q probably benign Het
Fgd3 C T 13: 49,427,185 (GRCm39) probably null Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fscn1 T C 5: 142,957,776 (GRCm39) Y308H probably damaging Het
Garin3 A G 11: 46,298,043 (GRCm39) D449G possibly damaging Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gpatch2l T C 12: 86,307,453 (GRCm39) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grin2a A G 16: 9,471,453 (GRCm39) I605T possibly damaging Het
Hoxc11 C T 15: 102,863,106 (GRCm39) S49F probably damaging Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Ighv10-3 A T 12: 114,487,124 (GRCm39) M99K possibly damaging Het
Itgb4 A T 11: 115,879,555 (GRCm39) T614S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mast4 A G 13: 102,910,756 (GRCm39) V461A probably damaging Het
Mcts2 G A 2: 152,529,584 (GRCm39) V132M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Nbeal2 A G 9: 110,460,861 (GRCm39) probably benign Het
Nek4 T C 14: 30,675,863 (GRCm39) V66A probably damaging Het
Nhsl1 T C 10: 18,402,437 (GRCm39) F1221S probably damaging Het
Nr1d1 T G 11: 98,662,640 (GRCm39) K118Q probably damaging Het
Ntaq1 T C 15: 58,016,110 (GRCm39) S120P probably benign Het
Ntm T C 9: 29,020,727 (GRCm39) E164G probably damaging Het
Or51a7 A G 7: 102,615,231 (GRCm39) N308S probably benign Het
Parp1 G T 1: 180,414,894 (GRCm39) A411S probably benign Het
Pds5b A G 5: 150,724,319 (GRCm39) T1301A probably benign Het
Pkhd1 A G 1: 20,128,841 (GRCm39) V3954A probably benign Het
Pkp4 A T 2: 59,180,952 (GRCm39) K739I probably damaging Het
Pla2g4e T C 2: 120,016,927 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rbm6 A T 9: 107,724,446 (GRCm39) probably benign Het
Scp2d1 T C 2: 144,666,087 (GRCm39) L142P probably damaging Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgf29 G A 7: 126,270,949 (GRCm39) C143Y probably damaging Het
Slc22a12 A G 19: 6,591,129 (GRCm39) I156T probably benign Het
Stambpl1 A G 19: 34,211,446 (GRCm39) Q169R probably benign Het
Tex2 T C 11: 106,457,832 (GRCm39) probably benign Het
Trip11 A T 12: 101,850,575 (GRCm39) I878N probably damaging Het
Ttf1 C T 2: 28,955,488 (GRCm39) S284L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn1r14 T A 6: 57,210,808 (GRCm39) Y85N probably benign Het
Zfp131 C T 13: 120,237,554 (GRCm39) R268H probably damaging 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
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
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'- CATTTGACCCAAGGATTCTGC -3'
(R):5'- GAACTGCAGCGATGTGTCAC -3'

Sequencing Primer
(F):5'- CATCCTCAGATGCTGCGCAAG -3'
(R):5'- AGCGATGTGTCACGGAGC -3'
Posted On 2015-06-24