Incidental Mutation 'IGL02192:Nfasc'
| ID |
283887 |
| 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)
|
| Stock # |
IGL02192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132492428-132669535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132498219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1155
(T1155M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043189]
[ENSMUST00000094569]
[ENSMUST00000163770]
[ENSMUST00000187861]
|
| AlphaFold |
Q810U3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043189
AA Change: T1138M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035454
Gene: ENSMUSG00000026442
AA Change: T1138M
| Domain | Start | End | E-Value | Type |
|---|
|
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: T1221M
|
| SMART Domains |
Protein: ENSMUSP00000092148
Gene: ENSMUSG00000026442
AA Change: T1221M
| Domain | Start | End | E-Value | Type |
|---|
|
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: T1155M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132979
Gene: ENSMUSG00000026442
AA Change: T1155M
| Domain | Start | End | E-Value | Type |
|---|
|
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: T1139M
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187861
AA Change: T1328M
|
| SMART Domains |
Protein: ENSMUSP00000139955
Gene: ENSMUSG00000026442
AA Change: T1328M
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
T |
7: 28,597,825 (GRCm39) |
M545K |
possibly damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
| Anxa13 |
A |
T |
15: 58,220,628 (GRCm39) |
|
noncoding transcript |
Het |
| Ap2b1 |
C |
T |
11: 83,237,592 (GRCm39) |
T552I |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,125,325 (GRCm39) |
S388G |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,460,402 (GRCm39) |
D544V |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,145,279 (GRCm39) |
R377G |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,798 (GRCm39) |
T154A |
unknown |
Het |
| Col9a1 |
C |
T |
1: 24,261,068 (GRCm39) |
P311S |
probably damaging |
Het |
| Cpsf3 |
G |
T |
12: 21,360,194 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
G |
T |
12: 21,360,197 (GRCm39) |
|
probably null |
Het |
| Dock8 |
T |
C |
19: 25,055,569 (GRCm39) |
|
probably null |
Het |
| Eml6 |
A |
G |
11: 29,755,743 (GRCm39) |
I837T |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,657,028 (GRCm39) |
T792A |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,625 (GRCm39) |
R1569* |
probably null |
Het |
| F13b |
A |
T |
1: 139,445,071 (GRCm39) |
T574S |
probably damaging |
Het |
| Fam184b |
G |
T |
5: 45,695,062 (GRCm39) |
D727E |
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,633 (GRCm39) |
L524P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,189,415 (GRCm39) |
L619P |
probably damaging |
Het |
| Fsd1l |
A |
G |
4: 53,647,754 (GRCm39) |
I66V |
probably benign |
Het |
| Fv1 |
A |
G |
4: 147,954,712 (GRCm39) |
D426G |
possibly damaging |
Het |
| Gm3371 |
A |
T |
14: 44,641,235 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
A |
T |
5: 115,098,177 (GRCm39) |
S142T |
probably damaging |
Het |
| Itgb3 |
A |
G |
11: 104,534,765 (GRCm39) |
I541V |
probably benign |
Het |
| Itgbl1 |
G |
T |
14: 124,081,338 (GRCm39) |
C239F |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Larp1b |
G |
T |
3: 40,921,929 (GRCm39) |
S116I |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,443,933 (GRCm39) |
|
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,137,513 (GRCm39) |
I235V |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,879,887 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,285 (GRCm39) |
D1819N |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,717 (GRCm39) |
T2254A |
possibly damaging |
Het |
| Nbr1 |
T |
A |
11: 101,460,417 (GRCm39) |
S444T |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,101,301 (GRCm39) |
D1956E |
probably damaging |
Het |
| Ndufaf5 |
T |
C |
2: 140,030,663 (GRCm39) |
V183A |
probably benign |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,133,998 (GRCm39) |
H265L |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,417 (GRCm39) |
L225H |
probably damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,472 (GRCm39) |
G233D |
possibly damaging |
Het |
| Pop1 |
A |
G |
15: 34,529,217 (GRCm39) |
E749G |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,477,547 (GRCm39) |
I66V |
probably damaging |
Het |
| Prl4a1 |
C |
A |
13: 28,202,554 (GRCm39) |
T43K |
possibly damaging |
Het |
| Prop1 |
A |
G |
11: 50,844,113 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,761,010 (GRCm39) |
I218N |
probably damaging |
Het |
| Rbm22 |
T |
A |
18: 60,697,484 (GRCm39) |
M63K |
possibly damaging |
Het |
| Rictor |
T |
C |
15: 6,815,895 (GRCm39) |
S1056P |
probably benign |
Het |
| Rps6kb2 |
T |
C |
19: 4,207,587 (GRCm39) |
T388A |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,613,129 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
T |
1: 85,635,722 (GRCm39) |
D509V |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,829,861 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
A |
6: 48,436,502 (GRCm39) |
T1254K |
possibly damaging |
Het |
| Stk19 |
A |
G |
17: 35,051,134 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,262 (GRCm39) |
I311F |
probably damaging |
Het |
| Themis2 |
C |
A |
4: 132,510,658 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
C |
19: 41,074,702 (GRCm39) |
Y937C |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,896,939 (GRCm39) |
M1K |
probably null |
Het |
| Usp50 |
G |
A |
2: 126,619,958 (GRCm39) |
T118I |
possibly damaging |
Het |
| Vps13d |
G |
A |
4: 144,875,428 (GRCm39) |
S1693F |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,282,852 (GRCm39) |
I467N |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Nfasc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
Incidental Mutation