Incidental Mutation 'R1550:Nfasc'
ID 169816
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 039589-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1550 (G1)
Quality Score 202
Status Not validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132536241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 571 (K571E)
Ref Sequence ENSEMBL: ENSMUSP00000092148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect probably benign
Transcript: ENSMUST00000043189
AA Change: K565E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: K565E

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: K571E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: K571E

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 possibly damaging
Transcript: ENSMUST00000163770
AA Change: K582E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: K582E

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: K551E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186539
Predicted Effect possibly damaging
Transcript: ENSMUST00000187861
AA Change: K571E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: K571E

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 possibly damaging
Transcript: ENSMUST00000188307
AA Change: K565E

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: K565E

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.2%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,654,668 (GRCm39) V551A probably benign Het
Acss1 A T 2: 150,484,715 (GRCm39) L176Q probably damaging Het
Aldh7a1 A G 18: 56,683,454 (GRCm39) I117T possibly damaging Het
Arf5 C T 6: 28,426,152 (GRCm39) R180C probably damaging Het
Arhgap21 A T 2: 20,886,576 (GRCm39) Y39* probably null Het
Arrdc1 A G 2: 24,816,351 (GRCm39) L206P probably damaging Het
Cby3 A T 11: 50,250,313 (GRCm39) Y173F probably damaging Het
Cdh18 T A 15: 23,436,634 (GRCm39) C497S probably damaging Het
Cyp11b2 T C 15: 74,725,442 (GRCm39) I226V probably benign Het
Ddit4l T A 3: 137,330,036 (GRCm39) probably null Het
Ddx11 C T 17: 66,445,215 (GRCm39) T405I probably benign Het
Dhx40 A T 11: 86,667,565 (GRCm39) probably null Het
Dlgap2 A G 8: 14,872,499 (GRCm39) D659G probably damaging Het
Eef2 A G 10: 81,016,681 (GRCm39) E586G probably benign Het
Fam161a A G 11: 22,970,470 (GRCm39) Q216R possibly damaging Het
Fbxw24 G T 9: 109,436,112 (GRCm39) R307S probably benign Het
Gbp2b G T 3: 142,312,591 (GRCm39) A325S probably damaging Het
Gli1 A T 10: 127,174,385 (GRCm39) F2Y probably damaging Het
Gnl2 T C 4: 124,938,027 (GRCm39) V269A probably damaging Het
Grin1 A G 2: 25,195,143 (GRCm39) V292A probably benign Het
Heg1 T A 16: 33,555,923 (GRCm39) V1001E probably damaging Het
Herc2 T A 7: 55,785,406 (GRCm39) I1552N probably damaging Het
Htr1a A G 13: 105,581,788 (GRCm39) T343A probably benign Het
Itk G T 11: 46,280,153 (GRCm39) R29S probably damaging Het
Ivns1abp G T 1: 151,237,242 (GRCm39) G469C probably damaging Het
Jph3 A T 8: 122,511,598 (GRCm39) N529Y possibly damaging Het
Kdm2b A G 5: 123,019,120 (GRCm39) L829P probably damaging Het
Kprp T A 3: 92,732,033 (GRCm39) Y339F probably damaging Het
Lrp2 A G 2: 69,333,005 (GRCm39) V1504A possibly damaging Het
Lypd6b A G 2: 49,833,615 (GRCm39) D85G probably damaging Het
Mansc4 T C 6: 146,977,136 (GRCm39) Y160C probably damaging Het
Mgll C A 6: 88,790,871 (GRCm39) H164N probably benign Het
Mtmr4 A T 11: 87,504,342 (GRCm39) D1097V probably damaging Het
Nfat5 A T 8: 108,097,205 (GRCm39) N1527Y probably damaging Het
Nlgn1 A G 3: 25,966,808 (GRCm39) L215P probably damaging Het
Or6b9 T A 7: 106,555,235 (GRCm39) I303L probably benign Het
Pde4dip T C 3: 97,627,020 (GRCm39) S1173G probably damaging Het
Prrt3 A T 6: 113,472,468 (GRCm39) V568E probably damaging Het
Ptpra G A 2: 130,383,313 (GRCm39) R503Q possibly damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Rnf7l A G 10: 63,257,427 (GRCm39) L31P probably damaging Het
Sema5a G A 15: 32,618,995 (GRCm39) A508T probably benign Het
Serpinb11 T C 1: 107,307,418 (GRCm39) I283T possibly damaging Het
Setbp1 A T 18: 78,901,807 (GRCm39) L620Q probably damaging Het
Sipa1l3 A T 7: 29,082,628 (GRCm39) C756S probably benign Het
Sirpa A T 2: 129,471,961 (GRCm39) I463F probably damaging Het
Slc13a2 G T 11: 78,293,990 (GRCm39) N257K probably damaging Het
Slc4a5 C A 6: 83,248,039 (GRCm39) T530N probably damaging Het
Stab2 A T 10: 86,714,790 (GRCm39) F125L probably benign Het
Tet2 G T 3: 133,175,280 (GRCm39) Q1356K probably benign Het
Tet3 A T 6: 83,363,010 (GRCm39) S856T probably damaging Het
Tg C T 15: 66,565,279 (GRCm39) T1207I possibly damaging Het
Tkt A G 14: 30,287,525 (GRCm39) Y173C probably damaging Het
Tlr6 T A 5: 65,110,754 (GRCm39) I718F probably damaging Het
Tnfrsf11b A G 15: 54,117,454 (GRCm39) V267A possibly damaging Het
Ubqln3 T A 7: 103,790,753 (GRCm39) N446Y probably damaging Het
Vmn2r118 C T 17: 55,915,083 (GRCm39) C521Y probably damaging Het
Vps16 A G 2: 130,282,260 (GRCm39) D394G probably benign Het
Zfp236 A T 18: 82,692,549 (GRCm39) M142K possibly damaging Het
Zfp780b T C 7: 27,664,282 (GRCm39) D91G probably benign Het
Zfp97 T A 17: 17,365,468 (GRCm39) Y322* 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
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'- TGAGAGTGGCAGCTCCTAATCCAG -3'
(R):5'- AAAGGTTCAAAGCCAGGTCCGGTG -3'

Sequencing Primer
(F):5'- ATCGCACCTAAAGGCTGTTG -3'
(R):5'- AGGACTCGGGCATCCAG -3'
Posted On 2014-04-13