Incidental Mutation 'R1749:Nfasc'
ID 194177
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 039781-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1749 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132539370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 393 (I393F)
Ref Sequence ENSEMBL: ENSMUSP00000092148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect probably damaging
Transcript: ENSMUST00000043189
AA Change: I387F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: I387F

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: I393F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: I393F

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: I404F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: I404F

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: I373F
Predicted Effect probably damaging
Transcript: ENSMUST00000187861
AA Change: I393F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: I393F

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: I387F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: I387F

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: 97.4%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 93.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 A T 3: 152,178,557 (GRCm39) M486K probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Aspn A T 13: 49,705,261 (GRCm39) D41V probably benign Het
Atp8a2 C A 14: 60,097,623 (GRCm39) E802* probably null Het
Barhl2 T C 5: 106,605,572 (GRCm39) S46G unknown Het
Cacna1e A G 1: 154,319,746 (GRCm39) V1318A probably damaging Het
Ccdc69 T C 11: 54,941,979 (GRCm39) R176G probably null Het
Cdan1 T C 2: 120,560,280 (GRCm39) N321S probably damaging Het
Cep85l T C 10: 53,154,250 (GRCm39) D681G probably damaging Het
Cntrob A T 11: 69,213,700 (GRCm39) V30E probably damaging Het
Csmd3 C T 15: 47,449,056 (GRCm39) G3646E probably damaging Het
Cx3cl1 A G 8: 95,506,789 (GRCm39) probably null Het
Dab1 A T 4: 104,185,495 (GRCm39) probably benign Het
Dennd2c T C 3: 103,039,352 (GRCm39) S167P possibly damaging Het
Dock2 A G 11: 34,182,767 (GRCm39) probably null Het
Dok3 GCC GC 13: 55,672,168 (GRCm39) probably null Het
Ebf1 A T 11: 44,798,835 (GRCm39) I287L possibly damaging Het
Eci1 G A 17: 24,645,721 (GRCm39) probably null Het
Emb T A 13: 117,386,242 (GRCm39) I133N possibly damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbn2 T C 18: 58,183,348 (GRCm39) D1779G probably benign Het
Fgfr4 T A 13: 55,315,605 (GRCm39) probably null Het
Flt1 G A 5: 147,591,929 (GRCm39) T511M probably benign Het
Gys1 T C 7: 45,089,456 (GRCm39) L205P probably damaging Het
Hepacam2 A G 6: 3,483,379 (GRCm39) V134A probably damaging Het
Htr3a A G 9: 48,812,233 (GRCm39) V291A probably damaging Het
Ip6k3 T A 17: 27,364,053 (GRCm39) T332S probably benign Het
Klra6 A T 6: 129,995,915 (GRCm39) F148I probably damaging Het
Kntc1 T C 5: 123,927,162 (GRCm39) S1206P probably benign Het
Mbnl2 T A 14: 120,626,462 (GRCm39) C231S probably damaging Het
Mdn1 A T 4: 32,773,952 (GRCm39) D5521V probably damaging Het
Mylip G A 13: 45,557,946 (GRCm39) V52M possibly damaging Het
Naip6 A G 13: 100,444,763 (GRCm39) S232P probably benign Het
Ndc80 T C 17: 71,808,550 (GRCm39) K504R probably benign Het
Nf2 T C 11: 4,753,694 (GRCm39) N220S possibly damaging Het
Or12d2 T C 17: 37,624,952 (GRCm39) T108A probably benign Het
Pabpc1 T C 15: 36,608,584 (GRCm39) Y56C probably damaging Het
Pcca A G 14: 122,938,542 (GRCm39) K498R probably damaging Het
Phldb1 A G 9: 44,627,045 (GRCm39) S467P probably damaging Het
Ptprn2 T C 12: 116,544,048 (GRCm39) S47P probably benign Het
Rtca A T 3: 116,291,293 (GRCm39) I229N possibly damaging Het
Sh3rf2 T A 18: 42,286,359 (GRCm39) S617R probably damaging Het
Slc14a2 T G 18: 78,190,295 (GRCm39) T885P possibly damaging Het
Sp100 A C 1: 85,627,357 (GRCm39) T417P possibly damaging Het
Tat A T 8: 110,722,846 (GRCm39) N303Y probably damaging Het
Tet2 A G 3: 133,185,892 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tnks1bp1 A G 2: 84,893,411 (GRCm39) S1113G probably benign Het
Tspear G A 10: 77,705,507 (GRCm39) E302K probably benign Het
Tulp3 A G 6: 128,314,722 (GRCm39) L23P probably damaging Het
Vti1b T C 12: 79,211,807 (GRCm39) E42G probably damaging Het
Yeats2 G T 16: 20,005,018 (GRCm39) E333* probably null Het
Zfp455 T G 13: 67,355,073 (GRCm39) C114G probably damaging Het
Zfp532 G A 18: 65,756,555 (GRCm39) V163M possibly damaging Het
Zfp940 A T 7: 29,544,952 (GRCm39) C318* 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
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
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'- GCCATGCTCAGAAAGAAGCTCTTCC -3'
(R):5'- TCCCCGTCACACAGTTCAACAGTG -3'

Sequencing Primer
(F):5'- CTCTGATGGAAGGAGCCCTATG -3'
(R):5'- GAACCCTTAGCATACGTGGGAC -3'
Posted On 2014-05-23