Incidental Mutation 'R7682:Nfasc'
ID 592792
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 045748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7682 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132501511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1163 (Y1163F)
Ref Sequence ENSEMBL: ENSMUSP00000092148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861]
AlphaFold Q810U3
Predicted Effect probably damaging
Transcript: ENSMUST00000043189
AA Change: Y1080F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: Y1080F

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: Y1163F
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: Y1163F

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: Y1097F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: Y1097F

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
Predicted Effect unknown
Transcript: ENSMUST00000187861
AA Change: Y1270F
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: Y1270F

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 0.0869 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik T A 16: 88,556,373 (GRCm39) S196T probably benign Het
Abcc5 T C 16: 20,186,803 (GRCm39) D977G probably damaging Het
Acot2 T C 12: 84,034,698 (GRCm39) V8A probably benign Het
Adamts9 T A 6: 92,857,679 (GRCm39) I870F possibly damaging Het
Adgrl3 G A 5: 81,942,407 (GRCm39) V1414I probably damaging Het
Aggf1 T C 13: 95,504,934 (GRCm39) K275R probably benign Het
Alpk1 T C 3: 127,466,195 (GRCm39) I1104V possibly damaging Het
Angptl7 A T 4: 148,582,539 (GRCm39) I119N probably damaging Het
Ank3 A T 10: 69,824,065 (GRCm39) E129D possibly damaging Het
Brca2 T A 5: 150,466,618 (GRCm39) H2127Q probably benign Het
Brd4 A G 17: 32,420,134 (GRCm39) F1008S unknown Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Casp3 A G 8: 47,085,420 (GRCm39) Y41C probably benign Het
Ces4a A T 8: 105,873,297 (GRCm39) T381S probably benign Het
Clstn1 A G 4: 149,710,558 (GRCm39) T77A possibly damaging Het
Cul7 G T 17: 46,966,521 (GRCm39) V615L probably benign Het
Dnpep A G 1: 75,293,384 (GRCm39) F24L probably damaging Het
Efcab3 T A 11: 104,855,174 (GRCm39) probably null Het
Emsy G A 7: 98,239,905 (GRCm39) R1263W probably damaging Het
Fam124b A T 1: 80,191,282 (GRCm39) C34S possibly damaging Het
Fan1 C A 7: 64,022,512 (GRCm39) G247V probably benign Het
Fbxl9 C A 8: 106,041,916 (GRCm39) R304L possibly damaging Het
Glipr1l3 T G 10: 111,977,777 (GRCm39) H218P probably benign Het
Gm14305 T A 2: 176,412,703 (GRCm39) S198R probably benign Het
Gm14326 T C 2: 177,590,274 (GRCm39) Y29C probably damaging Het
Gm45713 C T 7: 44,783,426 (GRCm39) V147I probably benign Het
Gpr149 C T 3: 62,438,160 (GRCm39) D666N probably damaging Het
Gpr183 A G 14: 122,192,152 (GRCm39) I123T possibly damaging Het
Il7r A T 15: 9,513,013 (GRCm39) H165Q probably damaging Het
Krt73 A G 15: 101,710,480 (GRCm39) F85L probably benign Het
Lrrc8d A G 5: 105,960,657 (GRCm39) T356A probably damaging Het
Marco A G 1: 120,421,771 (GRCm39) probably null Het
Mettl14 T A 3: 123,177,253 (GRCm39) E49D possibly damaging Het
Mrap T A 16: 90,546,110 (GRCm39) probably null Het
Mrps34 C T 17: 25,114,852 (GRCm39) A152V probably benign Het
Nfic T C 10: 81,256,334 (GRCm39) D110G probably damaging Het
Nip7 T C 8: 107,783,751 (GRCm39) V28A possibly damaging Het
Odam T C 5: 88,040,287 (GRCm39) F251S possibly damaging Het
Olfm5 T A 7: 103,810,979 (GRCm39) Q53L probably null Het
P2ry13 T G 3: 59,117,545 (GRCm39) M78L probably benign Het
Pacs1 T C 19: 5,202,727 (GRCm39) E385G probably damaging Het
Pip5k1b C T 19: 24,337,343 (GRCm39) G315D probably damaging Het
Pla2g4a C A 1: 149,762,022 (GRCm39) R145L probably damaging Het
Pramel26 A G 4: 143,537,290 (GRCm39) L347S probably benign Het
Rars1 T C 11: 35,719,579 (GRCm39) Q81R probably benign Het
Rassf7 A G 7: 140,797,847 (GRCm39) N296D probably damaging Het
Rcsd1 C T 1: 165,485,262 (GRCm39) A94T probably benign Het
Rgs8 T C 1: 153,566,668 (GRCm39) F73S probably damaging Het
Rilpl2 A C 5: 124,616,043 (GRCm39) Y36D probably damaging Het
Rpl10l A G 12: 66,331,004 (GRCm39) V43A probably benign Het
Sesn2 T C 4: 132,224,200 (GRCm39) I403V probably damaging Het
Slc10a4 C T 5: 73,164,453 (GRCm39) S15L unknown Het
Slc7a5 T C 8: 122,633,879 (GRCm39) Y156C probably damaging Het
Spata18 A G 5: 73,826,008 (GRCm39) H105R Het
Specc1l A G 10: 75,081,636 (GRCm39) D344G probably damaging Het
Syne1 A G 10: 5,112,461 (GRCm39) V415A probably benign Het
Thbs4 T G 13: 92,912,070 (GRCm39) D220A probably benign Het
Tmco5 T C 2: 116,716,752 (GRCm39) S152P probably benign Het
Tmem35b A T 4: 127,022,734 (GRCm39) D125V probably damaging Het
Trim17 A G 11: 58,857,634 (GRCm39) E155G possibly damaging Het
Vmn2r11 A C 5: 109,195,481 (GRCm39) V615G probably benign Het
Vmn2r88 A T 14: 51,655,906 (GRCm39) Q705L Het
Vmn2r93 A G 17: 18,525,583 (GRCm39) R414G probably benign Het
Xirp2 T C 2: 67,339,193 (GRCm39) L478P 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
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
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'- ACGTCACAGAAAAGGGGTCC -3'
(R):5'- TGGGGTTAGGAGCTCTCTAC -3'

Sequencing Primer
(F):5'- CCGGGGCTCATTTTGACTGAAAAG -3'
(R):5'- GTTAGGAGCTCTCTACCCCCAAG -3'
Posted On 2019-11-12