Incidental Mutation 'R4818:Nfasc'
ID 369968
Institutional Source Beutler Lab
Gene Symbol Nfasc
Ensembl Gene ENSMUSG00000026442
Gene Name neurofascin
Synonyms D430023G06Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4818 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132492428-132669535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132531568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 739 (T739A)
Ref Sequence ENSEMBL: ENSMUSP00000139955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043189] [ENSMUST00000094569] [ENSMUST00000163770] [ENSMUST00000187861] [ENSMUST00000188307]
AlphaFold Q810U3
Predicted Effect probably benign
Transcript: ENSMUST00000043189
AA Change: T718A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: T718A

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 possibly damaging
Transcript: ENSMUST00000094569
AA Change: T739A

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: T739A

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 benign
Transcript: ENSMUST00000163770
AA Change: T735A

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: T735A

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: T719A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186539
Predicted Effect possibly damaging
Transcript: ENSMUST00000187861
AA Change: T739A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: T739A

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 benign
Transcript: ENSMUST00000188307
AA Change: T733A

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139520
Gene: ENSMUSG00000026442
AA Change: T733A

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 0.1177 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (73/73)
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
4932414N04Rik A G 2: 68,571,810 (GRCm39) E562G probably benign Het
5730522E02Rik A G 11: 25,720,472 (GRCm39) probably null Het
A930033H14Rik A T 10: 69,048,190 (GRCm39) probably benign Het
Abca17 C T 17: 24,536,135 (GRCm39) E511K probably damaging Het
Abca9 C T 11: 110,045,980 (GRCm39) probably null Het
Abhd5 T A 9: 122,192,865 (GRCm39) probably null Het
Adra2b G A 2: 127,206,012 (GRCm39) W171* probably null Het
Ahcyl G A 16: 45,974,555 (GRCm39) T274I probably damaging Het
Aldh1l1 T C 6: 90,573,897 (GRCm39) Y799H probably benign Het
Arfgef1 A G 1: 10,286,772 (GRCm39) V46A probably benign Het
Arhgap40 A G 2: 158,381,639 (GRCm39) E374G probably damaging Het
Arhgef5 G A 6: 43,250,484 (GRCm39) V412I probably benign Het
Arid3c T C 4: 41,730,072 (GRCm39) E41G possibly damaging Het
Atp8b4 T A 2: 126,164,736 (GRCm39) K1193N probably benign Het
C4a C T 17: 35,035,975 (GRCm39) noncoding transcript Het
Chst2 C T 9: 95,287,417 (GRCm39) D310N probably damaging Het
Crtc3 T C 7: 80,327,170 (GRCm39) Q52R possibly damaging Het
Crybg1 T C 10: 43,874,583 (GRCm39) I842V probably benign Het
Dennd4c T C 4: 86,743,511 (GRCm39) S1167P probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Epha10 T A 4: 124,780,007 (GRCm39) probably null Het
Epha6 C A 16: 59,474,426 (GRCm39) R1117L probably damaging Het
Fdx2 T C 9: 20,979,160 (GRCm39) I144V possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Hus1 A G 11: 8,946,808 (GRCm39) probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Inpp5f A G 7: 128,286,853 (GRCm39) I577M probably damaging Het
Kansl2 G A 15: 98,424,542 (GRCm39) T296I possibly damaging Het
Kcna6 A G 6: 126,715,387 (GRCm39) F501L probably benign Het
Kirrel2 A T 7: 30,149,293 (GRCm39) V579D probably benign Het
Larp1b T C 3: 40,925,005 (GRCm39) Y208H probably damaging Het
Lipf A T 19: 33,943,088 (GRCm39) D132V probably benign Het
Lsm12 T C 11: 102,057,989 (GRCm39) K40E probably damaging Het
Mastl A G 2: 23,027,038 (GRCm39) S275P probably benign Het
Mettl25b C A 3: 87,832,305 (GRCm39) R293L probably benign Het
Mrpl44 A G 1: 79,758,694 (GRCm39) I281V probably benign Het
Mtf1 T A 4: 124,698,505 (GRCm39) M1K probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myh2 G A 11: 67,067,081 (GRCm39) G179R probably damaging Het
Nfatc3 G A 8: 106,835,011 (GRCm39) V778I probably benign Het
Notch4 A G 17: 34,797,690 (GRCm39) probably benign Het
Npm2 T C 14: 70,889,842 (GRCm39) N24S probably benign Het
Obox7 T A 7: 14,398,410 (GRCm39) L108Q probably damaging Het
Or51ah3 T A 7: 103,209,968 (GRCm39) F95I probably benign Het
Pax3 A G 1: 78,108,869 (GRCm39) V263A probably damaging Het
Pdlim1 C T 19: 40,211,580 (GRCm39) V238I probably damaging Het
Pik3ip1 G A 11: 3,280,928 (GRCm39) probably benign Het
Ptprq A G 10: 107,546,442 (GRCm39) V284A possibly damaging Het
Rad9b G A 5: 122,477,839 (GRCm39) T179I probably damaging Het
Sirt4 G T 5: 115,617,785 (GRCm39) D290E possibly damaging Het
Skint6 T A 4: 112,812,589 (GRCm39) probably benign Het
Slc18a1 A C 8: 69,492,951 (GRCm39) I466S probably damaging Het
Slc35e4 C T 11: 3,862,889 (GRCm39) R100H probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Tas1r1 C G 4: 152,117,131 (GRCm39) V168L probably benign Het
Tmem233 T A 5: 116,221,222 (GRCm39) Q8L possibly damaging Het
Ttc17 G T 2: 94,163,236 (GRCm39) Q862K possibly damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp1004 T A 2: 150,033,981 (GRCm39) C132S probably damaging Het
Zfp229 T C 17: 21,962,885 (GRCm39) I68T probably benign Het
Zfp423 A G 8: 88,631,128 (GRCm39) V30A probably benign 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
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'- GACAGTGGTCCCAGTTAGAC -3'
(R):5'- CTTAGCCAGGAAGACAGAGCAC -3'

Sequencing Primer
(F):5'- CTTTCACAGGGGTCACATATCAG -3'
(R):5'- CAGGAAGACAGAGCACACACG -3'
Posted On 2016-02-04