Incidental Mutation 'IGL02170:Nfasc'
ID 282857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02170
Quality Score
Status
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 132538104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 495 (C495*)
Ref Sequence ENSEMBL: ENSMUSP00000139520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect probably null
Transcript: ENSMUST00000043189
AA Change: C495*
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: C495*

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 null
Transcript: ENSMUST00000094569
AA Change: C501*
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: C501*

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 null
Transcript: ENSMUST00000163770
AA Change: C512*
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: C512*

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 probably null
Transcript: ENSMUST00000186389
AA Change: C481*
Predicted Effect probably null
Transcript: ENSMUST00000187861
AA Change: C501*
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: C501*

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 null
Transcript: ENSMUST00000188307
AA Change: C495*
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: C495*

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 16,936,196 (GRCm39) P176L probably damaging Het
4932414N04Rik A G 2: 68,561,467 (GRCm39) M265V probably benign Het
A2ml1 T C 6: 128,524,173 (GRCm39) E1153G possibly damaging Het
Adam22 T C 5: 8,184,845 (GRCm39) T452A probably benign Het
Ambra1 A G 2: 91,597,432 (GRCm39) T56A possibly damaging Het
Atp1a4 A G 1: 172,062,103 (GRCm39) V674A possibly damaging Het
Ccnb1 A T 13: 100,919,994 (GRCm39) Y172* probably null Het
Chrdl2 A T 7: 99,683,821 (GRCm39) T416S possibly damaging Het
Col6a5 A G 9: 105,805,621 (GRCm39) L1095P unknown Het
Dhx16 T C 17: 36,200,361 (GRCm39) C901R probably damaging Het
Dip2c A G 13: 9,656,371 (GRCm39) T732A probably benign Het
Dnah12 A C 14: 26,495,069 (GRCm39) I1376L probably damaging Het
Dock2 A T 11: 34,217,949 (GRCm39) L1207Q probably damaging Het
Eif2ak1 A T 5: 143,816,278 (GRCm39) H192L probably benign Het
Evi5 T A 5: 107,969,750 (GRCm39) T54S probably benign Het
Fam151a T C 4: 106,592,795 (GRCm39) probably null Het
Fam98a C T 17: 75,847,187 (GRCm39) probably null Het
Frmd4a G A 2: 4,570,988 (GRCm39) R306K probably damaging Het
Fxyd7 C A 7: 30,744,432 (GRCm39) V28L possibly damaging Het
Gabrb1 T A 5: 72,294,073 (GRCm39) I449K probably damaging Het
Gkn3 G T 6: 87,360,493 (GRCm39) D167E possibly damaging Het
Gm14496 A T 2: 181,638,144 (GRCm39) Y406F probably damaging Het
Gm8603 T A 17: 13,737,073 (GRCm39) noncoding transcript Het
Hecw1 T C 13: 14,438,743 (GRCm39) N880S possibly damaging Het
Hivep2 C A 10: 14,003,548 (GRCm39) Q49K possibly damaging Het
Hscb T A 5: 110,987,492 (GRCm39) S35C probably damaging Het
Hspa12a T G 19: 58,793,113 (GRCm39) K357N probably benign Het
Kcnu1 A T 8: 26,427,588 (GRCm39) I302F probably damaging Het
Krtap5-3 T A 7: 141,756,215 (GRCm39) C351S unknown Het
Mvd A G 8: 123,164,747 (GRCm39) V142A probably benign Het
Myo1f A T 17: 33,797,246 (GRCm39) I143L probably benign Het
Ncoa7 T A 10: 30,565,849 (GRCm39) E599D possibly damaging Het
Nfx1 G A 4: 41,018,019 (GRCm39) G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 (GRCm38) noncoding transcript Het
Nup85 T A 11: 115,468,757 (GRCm39) V200E probably damaging Het
Or2z2 T A 11: 58,345,906 (GRCm39) I290F probably damaging Het
Or5an1c T C 19: 12,218,120 (GRCm39) M302V probably benign Het
Pask T C 1: 93,238,606 (GRCm39) Q1293R possibly damaging Het
Ppfia2 T A 10: 106,636,646 (GRCm39) S232T probably benign Het
Prr12 G A 7: 44,695,612 (GRCm39) R1285W unknown Het
Rimoc1 C T 15: 4,015,848 (GRCm39) V239I probably benign Het
Rxylt1 A T 10: 121,930,548 (GRCm39) D126E probably damaging Het
Slc1a1 T A 19: 28,880,153 (GRCm39) F278I possibly damaging Het
Sos1 G T 17: 80,705,719 (GRCm39) T1284N probably damaging Het
Sp2 T A 11: 96,847,036 (GRCm39) Q475L probably damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Sspo A T 6: 48,444,917 (GRCm39) T2134S possibly damaging Het
Tbx1 C A 16: 18,401,552 (GRCm39) A300S probably benign Het
Uap1 A C 1: 169,994,281 (GRCm39) V65G probably benign Het
Ubr2 G A 17: 47,278,123 (GRCm39) T738I probably benign Het
Uvrag A T 7: 98,758,297 (GRCm39) Y81* probably null Het
Vmn2r116 T G 17: 23,603,907 (GRCm39) I44S probably benign Het
Xkr8 A T 4: 132,455,688 (GRCm39) Y228* probably null Het
Zbtb20 A G 16: 43,430,025 (GRCm39) I106V possibly damaging Het
Zc3h7a C T 16: 10,964,259 (GRCm39) S683N probably benign Het
Zfp146 A T 7: 29,861,905 (GRCm39) C46S possibly damaging Het
Zfp871 T C 17: 32,994,662 (GRCm39) E152G possibly damaging Het
Zfp90 T C 8: 107,146,156 (GRCm39) V57A probably damaging Het
Zhx3 A T 2: 160,621,718 (GRCm39) N816K 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
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
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
Posted On 2015-04-16