Incidental Mutation 'T0975:Nefh'
ID |
262175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nefh
|
Ensembl Gene |
ENSMUSG00000020396 |
Gene Name |
neurofilament, heavy polypeptide |
Synonyms |
NF200, NF-H, NEFH |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
T0975 (G3)
of strain
714
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 4890151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 823
(P823S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
AlphaFold |
P19246 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093369
AA Change: P823S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091061 Gene: ENSMUSG00000020396 AA Change: P823S
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
low complexity region
|
49 |
64 |
N/A |
INTRINSIC |
Filament
|
94 |
410 |
1.45e-109 |
SMART |
low complexity region
|
470 |
515 |
N/A |
INTRINSIC |
Pfam:DUF1388
|
519 |
545 |
1.8e-14 |
PFAM |
Pfam:DUF1388
|
536 |
562 |
5.8e-15 |
PFAM |
Pfam:DUF1388
|
542 |
569 |
2.7e-12 |
PFAM |
Pfam:DUF1388
|
578 |
611 |
9.7e-10 |
PFAM |
Pfam:DUF1388
|
602 |
629 |
4.9e-14 |
PFAM |
Pfam:DUF1388
|
608 |
635 |
4.7e-14 |
PFAM |
Pfam:DUF1388
|
626 |
653 |
1.4e-13 |
PFAM |
Pfam:DUF1388
|
632 |
659 |
2.5e-13 |
PFAM |
Pfam:DUF1388
|
656 |
683 |
4.4e-14 |
PFAM |
Pfam:DUF1388
|
680 |
706 |
1.5e-12 |
PFAM |
Pfam:DUF1388
|
700 |
730 |
5e-12 |
PFAM |
Pfam:DUF1388
|
728 |
755 |
7.9e-14 |
PFAM |
Pfam:DUF1388
|
752 |
779 |
4.7e-14 |
PFAM |
Pfam:DUF1388
|
779 |
800 |
1.9e-9 |
PFAM |
low complexity region
|
816 |
829 |
N/A |
INTRINSIC |
low complexity region
|
858 |
948 |
N/A |
INTRINSIC |
low complexity region
|
949 |
968 |
N/A |
INTRINSIC |
low complexity region
|
976 |
1039 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased axon diameter and transport. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
TAA |
TAAA |
11: 3,887,945 (GRCm39) |
|
probably null |
Het |
4930556J24Rik |
C |
T |
11: 3,926,324 (GRCm39) |
A27T |
unknown |
Het |
Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
Bpifb5 |
C |
A |
2: 154,071,384 (GRCm39) |
|
probably null |
Het |
Castor1 |
G |
C |
11: 4,170,445 (GRCm39) |
G147A |
probably benign |
Het |
Ccdc157 |
C |
T |
11: 4,096,246 (GRCm39) |
A455T |
probably damaging |
Het |
Ccng1 |
A |
C |
11: 40,644,871 (GRCm39) |
S9A |
probably benign |
Het |
Cfh |
T |
C |
1: 140,082,336 (GRCm39) |
T164A |
probably benign |
Het |
Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
C |
1: 87,138,348 (GRCm39) |
S380P |
probably benign |
Het |
Clspn |
ACGGCGGCGGCGGCG |
ACGGCGGCGGCGGCGGCGGCG |
4: 126,460,230 (GRCm39) |
|
probably benign |
Het |
Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
Cxxc1 |
C |
T |
18: 74,353,992 (GRCm39) |
R593C |
probably damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,950 (GRCm39) |
S312P |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,840,130 (GRCm39) |
S1255G |
probably benign |
Het |
Dpep1 |
A |
T |
8: 123,927,727 (GRCm39) |
S388C |
probably damaging |
Het |
Emid1 |
T |
C |
11: 5,094,386 (GRCm39) |
T42A |
probably damaging |
Het |
Emid1 |
A |
C |
11: 5,078,884 (GRCm39) |
L353V |
probably benign |
Het |
Epn3 |
A |
G |
11: 94,382,733 (GRCm39) |
|
probably null |
Het |
Fam124b |
T |
C |
1: 80,190,843 (GRCm39) |
E180G |
probably benign |
Het |
Fam135b |
T |
G |
15: 71,335,734 (GRCm39) |
T487P |
probably damaging |
Het |
Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
Gm9972 |
GA |
GAA |
11: 42,927,597 (GRCm39) |
|
probably null |
Het |
Hmmr |
G |
C |
11: 40,614,243 (GRCm39) |
N148K |
probably damaging |
Het |
Homez |
C |
T |
14: 55,094,796 (GRCm39) |
R304K |
possibly damaging |
Het |
Ifngr1 |
G |
A |
10: 19,485,221 (GRCm39) |
V407M |
probably damaging |
Het |
Inpp5j |
G |
T |
11: 3,452,527 (GRCm39) |
T241N |
possibly damaging |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
C |
T |
11: 5,145,105 (GRCm39) |
A424T |
probably benign |
Het |
Mat2b |
G |
A |
11: 40,570,918 (GRCm39) |
T302I |
probably benign |
Het |
Mtmr3 |
C |
T |
11: 4,438,441 (GRCm39) |
R671K |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,632 (GRCm39) |
C520R |
probably benign |
Het |
Nacad |
GCAGGGTCAGGGTC |
GCAGGGTCAGGGTCAGGGTC |
11: 6,549,750 (GRCm39) |
|
probably benign |
Het |
Nacad |
T |
C |
11: 6,551,622 (GRCm39) |
N523S |
probably benign |
Het |
Nfrkb |
G |
C |
9: 31,308,379 (GRCm39) |
A230P |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,149,062 (GRCm39) |
E223G |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,365,391 (GRCm39) |
Y1107F |
probably damaging |
Het |
Or10ak9 |
G |
T |
4: 118,726,500 (GRCm39) |
R174M |
probably benign |
Het |
Or13g1 |
A |
T |
7: 85,955,492 (GRCm39) |
Y276* |
probably null |
Het |
Or6c35 |
A |
G |
10: 129,169,314 (GRCm39) |
D188G |
probably benign |
Het |
Osm |
A |
G |
11: 4,189,588 (GRCm39) |
D124G |
probably benign |
Het |
Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
Sytl1 |
TCTGC |
TC |
4: 132,984,305 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
G |
C |
11: 3,873,487 (GRCm39) |
F286L |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,560,712 (GRCm39) |
S10P |
probably benign |
Het |
Tmprss7 |
C |
T |
16: 45,501,096 (GRCm39) |
R235Q |
probably benign |
Het |
Tns3 |
G |
A |
11: 8,499,100 (GRCm39) |
|
probably benign |
Het |
Tns3 |
G |
T |
11: 8,401,146 (GRCm39) |
L1051M |
probably benign |
Het |
Tns3 |
T |
G |
11: 8,429,518 (GRCm39) |
E806A |
probably benign |
Het |
Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
Txnrd2 |
A |
G |
16: 18,294,315 (GRCm39) |
H436R |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,179,092 (GRCm39) |
P2001S |
probably damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,690,120 (GRCm39) |
M332K |
probably benign |
Het |
Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
Zfyve21 |
A |
G |
12: 111,794,067 (GRCm39) |
D206G |
probably damaging |
Het |
Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
probably benign |
Het |
Zpld2 |
GTG |
GTGCTG |
4: 133,929,940 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nefh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02931:Nefh
|
APN |
11 |
4,891,356 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03025:Nefh
|
APN |
11 |
4,895,289 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4340:Nefh
|
UTSW |
11 |
4,891,040 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Nefh
|
UTSW |
11 |
4,891,038 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Nefh
|
UTSW |
11 |
4,891,033 (GRCm39) |
small insertion |
probably benign |
|
R0041:Nefh
|
UTSW |
11 |
4,895,184 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0149:Nefh
|
UTSW |
11 |
4,890,799 (GRCm39) |
missense |
probably benign |
0.39 |
R0361:Nefh
|
UTSW |
11 |
4,890,799 (GRCm39) |
missense |
probably benign |
0.39 |
R0531:Nefh
|
UTSW |
11 |
4,890,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R1340:Nefh
|
UTSW |
11 |
4,891,002 (GRCm39) |
small insertion |
probably benign |
|
R1349:Nefh
|
UTSW |
11 |
4,891,010 (GRCm39) |
small insertion |
probably benign |
|
R1469:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
0.20 |
R1469:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
0.20 |
R1564:Nefh
|
UTSW |
11 |
4,889,878 (GRCm39) |
missense |
unknown |
|
R2165:Nefh
|
UTSW |
11 |
4,893,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R2417:Nefh
|
UTSW |
11 |
4,889,479 (GRCm39) |
missense |
unknown |
|
R2906:Nefh
|
UTSW |
11 |
4,890,216 (GRCm39) |
missense |
probably benign |
0.15 |
R3750:Nefh
|
UTSW |
11 |
4,889,937 (GRCm39) |
missense |
probably benign |
0.33 |
R4298:Nefh
|
UTSW |
11 |
4,890,066 (GRCm39) |
missense |
probably benign |
|
R4462:Nefh
|
UTSW |
11 |
4,891,015 (GRCm39) |
missense |
probably damaging |
0.98 |
R4713:Nefh
|
UTSW |
11 |
4,889,656 (GRCm39) |
missense |
unknown |
|
R4878:Nefh
|
UTSW |
11 |
4,891,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R5423:Nefh
|
UTSW |
11 |
4,890,985 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5648:Nefh
|
UTSW |
11 |
4,895,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R5893:Nefh
|
UTSW |
11 |
4,891,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Nefh
|
UTSW |
11 |
4,889,551 (GRCm39) |
missense |
unknown |
|
R7583:Nefh
|
UTSW |
11 |
4,891,089 (GRCm39) |
missense |
probably damaging |
0.96 |
R8557:Nefh
|
UTSW |
11 |
4,891,233 (GRCm39) |
missense |
probably damaging |
0.98 |
R8925:Nefh
|
UTSW |
11 |
4,890,530 (GRCm39) |
small deletion |
probably benign |
|
R8982:Nefh
|
UTSW |
11 |
4,897,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R9101:Nefh
|
UTSW |
11 |
4,890,925 (GRCm39) |
missense |
probably damaging |
0.97 |
R9291:Nefh
|
UTSW |
11 |
4,890,871 (GRCm39) |
missense |
probably benign |
0.39 |
R9576:Nefh
|
UTSW |
11 |
4,891,222 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9616:Nefh
|
UTSW |
11 |
4,889,443 (GRCm39) |
nonsense |
probably null |
|
R9709:Nefh
|
UTSW |
11 |
4,890,042 (GRCm39) |
missense |
probably benign |
0.44 |
R9781:Nefh
|
UTSW |
11 |
4,895,271 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Nefh
|
UTSW |
11 |
4,891,030 (GRCm39) |
small insertion |
probably benign |
|
RF002:Nefh
|
UTSW |
11 |
4,891,050 (GRCm39) |
small insertion |
probably benign |
|
RF002:Nefh
|
UTSW |
11 |
4,891,047 (GRCm39) |
small insertion |
probably benign |
|
RF009:Nefh
|
UTSW |
11 |
4,890,997 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,055 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,030 (GRCm39) |
small insertion |
probably benign |
|
RF012:Nefh
|
UTSW |
11 |
4,891,032 (GRCm39) |
small insertion |
probably benign |
|
RF013:Nefh
|
UTSW |
11 |
4,891,032 (GRCm39) |
small insertion |
probably benign |
|
RF016:Nefh
|
UTSW |
11 |
4,891,023 (GRCm39) |
small insertion |
probably benign |
|
RF016:Nefh
|
UTSW |
11 |
4,891,022 (GRCm39) |
small insertion |
probably benign |
|
RF025:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF025:Nefh
|
UTSW |
11 |
4,891,003 (GRCm39) |
small insertion |
probably benign |
|
RF028:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF028:Nefh
|
UTSW |
11 |
4,891,012 (GRCm39) |
small insertion |
probably benign |
|
RF033:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
frame shift |
probably null |
|
RF033:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF035:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,048 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,036 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF036:Nefh
|
UTSW |
11 |
4,891,010 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,891,054 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,891,046 (GRCm39) |
small insertion |
probably benign |
|
RF037:Nefh
|
UTSW |
11 |
4,890,999 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,019 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,018 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,012 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,040 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
small insertion |
probably benign |
|
RF038:Nefh
|
UTSW |
11 |
4,891,027 (GRCm39) |
small insertion |
probably benign |
|
RF039:Nefh
|
UTSW |
11 |
4,891,007 (GRCm39) |
small insertion |
probably benign |
|
RF041:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF043:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,023 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,021 (GRCm39) |
small insertion |
probably benign |
|
RF044:Nefh
|
UTSW |
11 |
4,891,016 (GRCm39) |
small insertion |
probably benign |
|
RF047:Nefh
|
UTSW |
11 |
4,891,038 (GRCm39) |
small insertion |
probably benign |
|
RF048:Nefh
|
UTSW |
11 |
4,891,007 (GRCm39) |
small insertion |
probably benign |
|
RF048:Nefh
|
UTSW |
11 |
4,891,003 (GRCm39) |
small insertion |
probably benign |
|
RF049:Nefh
|
UTSW |
11 |
4,890,997 (GRCm39) |
small insertion |
probably benign |
|
RF051:Nefh
|
UTSW |
11 |
4,891,054 (GRCm39) |
small insertion |
probably benign |
|
RF053:Nefh
|
UTSW |
11 |
4,891,014 (GRCm39) |
nonsense |
probably null |
|
RF054:Nefh
|
UTSW |
11 |
4,891,048 (GRCm39) |
small insertion |
probably benign |
|
RF055:Nefh
|
UTSW |
11 |
4,891,004 (GRCm39) |
small insertion |
probably benign |
|
RF058:Nefh
|
UTSW |
11 |
4,891,021 (GRCm39) |
small insertion |
probably benign |
|
RF060:Nefh
|
UTSW |
11 |
4,891,052 (GRCm39) |
small insertion |
probably benign |
|
RF060:Nefh
|
UTSW |
11 |
4,891,050 (GRCm39) |
small insertion |
probably benign |
|
RF062:Nefh
|
UTSW |
11 |
4,891,028 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Nefh
|
UTSW |
11 |
4,890,530 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2015-02-04 |