Incidental Mutation 'R7275:Nfasc'
ID 565489
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
MMRRC Submission 045358-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7275 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 132562001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 147 (L147R)
Ref Sequence ENSEMBL: ENSMUSP00000092148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect possibly damaging
Transcript: ENSMUST00000043189
AA Change: L141R

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: L141R

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: L147R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: L147R

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: L141R

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: L141R

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 probably damaging
Transcript: ENSMUST00000187861
AA Change: L147R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: L147R

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: L141R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: L141R

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 0.1211 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (64/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T A 12: 72,956,795 (GRCm39) T132S possibly damaging Het
4933412E24Rik A G 15: 59,887,738 (GRCm39) V234A probably benign Het
Abtb3 T A 10: 85,490,346 (GRCm39) L1004Q probably damaging Het
Acsm5 A G 7: 119,136,511 (GRCm39) T361A possibly damaging Het
Agxt2 G A 15: 10,358,753 (GRCm39) R24H probably benign Het
Asb16 G T 11: 102,159,935 (GRCm39) W96L probably damaging Het
Bche T A 3: 73,607,969 (GRCm39) T486S probably benign Het
Bpnt2 C A 4: 4,792,962 (GRCm39) G48W probably damaging Het
Cast T C 13: 74,875,453 (GRCm39) T382A probably benign Het
Cdcp1 T A 9: 123,014,119 (GRCm39) K218N possibly damaging Het
Ceacam18 G A 7: 43,291,308 (GRCm39) G250D probably damaging Het
Ciao3 T A 17: 25,994,108 (GRCm39) V52E possibly damaging Het
Ctnnd2 T C 15: 30,905,855 (GRCm39) I834T possibly damaging Het
Cyp11b2 C A 15: 74,725,840 (GRCm39) G136W probably damaging Het
Dis3 A G 14: 99,324,925 (GRCm39) V502A probably damaging Het
Dnai2 T A 11: 114,648,054 (GRCm39) M610K unknown Het
Drosha G A 15: 12,846,169 (GRCm39) V435I possibly damaging Het
Dsc2 T A 18: 20,184,236 (GRCm39) R51* probably null Het
Ergic2 A T 6: 148,096,757 (GRCm39) C170S probably damaging Het
Exoc7 A T 11: 116,195,688 (GRCm39) probably null Het
Fbxw25 G T 9: 109,483,660 (GRCm39) A184E Het
Gm4846 T A 1: 166,314,648 (GRCm39) T332S probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grik1 T C 16: 87,709,708 (GRCm39) N871S probably benign Het
Il11ra1 T C 4: 41,765,109 (GRCm39) L145P probably damaging Het
Inpp5e A G 2: 26,298,104 (GRCm39) S166P probably benign Het
Kdm4b T A 17: 56,703,333 (GRCm39) L676H probably damaging Het
Lrp2 T A 2: 69,289,875 (GRCm39) K3655* probably null Het
Lrrc74a A G 12: 86,787,753 (GRCm39) N128S probably damaging Het
Map3k14 T C 11: 103,117,848 (GRCm39) E648G probably damaging Het
Mbtps1 A T 8: 120,269,489 (GRCm39) D200E probably benign Het
Mttp T C 3: 137,829,546 (GRCm39) D114G probably benign Het
Mup13 G A 4: 61,182,752 (GRCm39) T101M probably benign Het
Neb T A 2: 52,096,956 (GRCm39) T4953S probably benign Het
Obox6 T C 7: 15,567,805 (GRCm39) E214G probably benign Het
Opn3 T C 1: 175,493,039 (GRCm39) N175S probably damaging Het
Or1j12 A T 2: 36,342,851 (GRCm39) M85L probably benign Het
Or8g22 T A 9: 38,958,815 (GRCm39) probably benign Het
Or8k22 C A 2: 86,163,136 (GRCm39) C188F possibly damaging Het
Osbpl3 G T 6: 50,323,410 (GRCm39) D224E probably benign Het
Osr2 A G 15: 35,301,032 (GRCm39) D196G probably damaging Het
Pde8b T A 13: 95,179,442 (GRCm39) N405Y probably damaging Het
Pirb A G 7: 3,719,177 (GRCm39) S571P probably benign Het
Psmc3 T A 2: 90,886,275 (GRCm39) I163N probably damaging Het
Rapgef4 A G 2: 72,038,445 (GRCm39) D532G probably damaging Het
Retreg1 A G 15: 25,971,684 (GRCm39) D208G probably benign Het
Rgsl1 T G 1: 153,679,876 (GRCm39) probably null Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Slc30a2 T A 4: 134,076,581 (GRCm39) probably null Het
Slc6a19 T C 13: 73,834,197 (GRCm39) D335G probably benign Het
Slco4c1 G A 1: 96,799,497 (GRCm39) T113M probably benign Het
Speer1c T C 5: 10,295,192 (GRCm39) N71D Het
Stxbp6 A G 12: 44,948,786 (GRCm39) F108L probably benign Het
Sulf1 T A 1: 12,921,189 (GRCm39) probably null Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tbc1d19 T A 5: 54,029,618 (GRCm39) D326E probably damaging Het
Trappc14 T C 5: 138,261,839 (GRCm39) S86G probably benign Het
Trgv3 A G 13: 19,427,188 (GRCm39) T24A probably benign Het
Trpm3 T A 19: 22,956,048 (GRCm39) M1170K possibly damaging Het
Tubgcp6 G A 15: 88,987,146 (GRCm39) Q1276* probably null Het
Tyrp1 A G 4: 80,755,821 (GRCm39) K197E possibly damaging Het
Ube3d T C 9: 86,322,679 (GRCm39) D165G probably damaging Het
Zfp212 A G 6: 47,897,678 (GRCm39) T7A probably benign Het
Zhx1 T C 15: 57,917,758 (GRCm39) T163A probably benign Het
Zp2 A T 7: 119,734,576 (GRCm39) 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
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
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'- TCTTCGGACTCTGAGTGAGC -3'
(R):5'- AAGATGAGTGTCCCCGTCAC -3'

Sequencing Primer
(F):5'- TGTGGCATCTCTGAACCAAG -3'
(R):5'- TGAGTGTCCCCGTCACAGAAAG -3'
Posted On 2019-06-26