Incidental Mutation 'R1564:Nefh'
ID |
175133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nefh
|
Ensembl Gene |
ENSMUSG00000020396 |
Gene Name |
neurofilament, heavy polypeptide |
Synonyms |
NF200, NF-H, NEFH |
MMRRC Submission |
039603-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1564 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4889878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 914
(T914A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
AlphaFold |
P19246 |
Predicted Effect |
unknown
Transcript: ENSMUST00000093369
AA Change: T914A
|
SMART Domains |
Protein: ENSMUSP00000091061 Gene: ENSMUSG00000020396 AA Change: T914A
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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.0%
|
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,384,316 (GRCm39) |
Q3923* |
probably null |
Het |
Abcc12 |
T |
A |
8: 87,244,115 (GRCm39) |
T1013S |
probably benign |
Het |
Acad9 |
T |
C |
3: 36,143,578 (GRCm39) |
I558T |
possibly damaging |
Het |
Agbl4 |
C |
A |
4: 110,812,761 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
T |
6: 34,283,470 (GRCm39) |
|
probably null |
Het |
Aktip |
A |
G |
8: 91,857,709 (GRCm39) |
M1T |
probably null |
Het |
Apc |
G |
T |
18: 34,448,202 (GRCm39) |
Q1665H |
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,467,452 (GRCm39) |
D1916G |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,609,817 (GRCm39) |
V365A |
probably benign |
Het |
Bank1 |
C |
A |
3: 135,919,602 (GRCm39) |
E265* |
probably null |
Het |
Bbs7 |
A |
T |
3: 36,629,944 (GRCm39) |
D578E |
probably damaging |
Het |
Bin3 |
T |
C |
14: 70,372,218 (GRCm39) |
F172L |
probably damaging |
Het |
Bves |
A |
G |
10: 45,245,377 (GRCm39) |
D350G |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,596,835 (GRCm39) |
C80* |
probably null |
Het |
Cacna2d4 |
T |
C |
6: 119,218,156 (GRCm39) |
F164L |
possibly damaging |
Het |
Cenpj |
T |
C |
14: 56,789,523 (GRCm39) |
D842G |
probably benign |
Het |
Col12a1 |
C |
A |
9: 79,521,122 (GRCm39) |
R2781L |
probably damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,724,024 (GRCm39) |
C213* |
probably null |
Het |
Defb33 |
T |
A |
8: 21,387,597 (GRCm39) |
C45S |
possibly damaging |
Het |
Dolk |
A |
T |
2: 30,175,633 (GRCm39) |
N137K |
probably damaging |
Het |
Fam171b |
G |
A |
2: 83,710,628 (GRCm39) |
E767K |
probably damaging |
Het |
Fbxl20 |
A |
T |
11: 97,989,312 (GRCm39) |
D189E |
probably damaging |
Het |
Gm10643 |
A |
T |
8: 84,791,111 (GRCm39) |
M1K |
probably null |
Het |
Gm572 |
T |
G |
4: 148,735,643 (GRCm39) |
I24S |
possibly damaging |
Het |
Gnpda1 |
A |
G |
18: 38,471,142 (GRCm39) |
|
probably null |
Het |
Gpr141b |
T |
C |
13: 19,913,470 (GRCm39) |
|
noncoding transcript |
Het |
Helz2 |
G |
T |
2: 180,875,021 (GRCm39) |
N1824K |
probably benign |
Het |
Insl3 |
G |
T |
8: 72,142,935 (GRCm39) |
A99S |
possibly damaging |
Het |
Lpin2 |
G |
A |
17: 71,532,055 (GRCm39) |
V137I |
probably benign |
Het |
Lrrc9 |
A |
G |
12: 72,533,827 (GRCm39) |
E1032G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,353,150 (GRCm39) |
T1510A |
probably benign |
Het |
Mnd1 |
T |
C |
3: 84,023,738 (GRCm39) |
E116G |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,407,287 (GRCm39) |
|
probably null |
Het |
Myoz3 |
G |
A |
18: 60,713,914 (GRCm39) |
S23L |
probably benign |
Het |
Napsa |
G |
T |
7: 44,236,073 (GRCm39) |
V371F |
probably damaging |
Het |
Neurod2 |
A |
T |
11: 98,218,250 (GRCm39) |
C305S |
probably damaging |
Het |
Nmnat3 |
T |
C |
9: 98,236,219 (GRCm39) |
|
probably null |
Het |
Nuf2 |
A |
G |
1: 169,326,362 (GRCm39) |
V463A |
unknown |
Het |
Olfml1 |
A |
T |
7: 107,170,346 (GRCm39) |
T78S |
possibly damaging |
Het |
Opcml |
G |
A |
9: 28,814,612 (GRCm39) |
C288Y |
probably damaging |
Het |
Oprl1 |
T |
C |
2: 181,360,733 (GRCm39) |
I222T |
possibly damaging |
Het |
Or13a28 |
G |
A |
7: 140,217,967 (GRCm39) |
V118I |
probably benign |
Het |
Or4c104 |
A |
T |
2: 88,587,000 (GRCm39) |
N6K |
possibly damaging |
Het |
Or4c122 |
G |
T |
2: 89,080,016 (GRCm39) |
N7K |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,495,884 (GRCm39) |
F70L |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,632,120 (GRCm39) |
Y349H |
probably damaging |
Het |
Pla2g4d |
C |
A |
2: 120,099,384 (GRCm39) |
R706L |
possibly damaging |
Het |
Pmm1 |
A |
G |
15: 81,840,401 (GRCm39) |
Y55H |
probably damaging |
Het |
Polb |
A |
G |
8: 23,120,357 (GRCm39) |
|
probably null |
Het |
Pom121l2 |
T |
C |
13: 22,167,523 (GRCm39) |
I598T |
possibly damaging |
Het |
Pxmp2 |
C |
T |
5: 110,429,062 (GRCm39) |
|
probably null |
Het |
Rbm39 |
G |
T |
2: 155,996,177 (GRCm39) |
L403I |
probably benign |
Het |
Rec8 |
T |
C |
14: 55,859,732 (GRCm39) |
|
probably null |
Het |
Reck |
T |
C |
4: 43,912,061 (GRCm39) |
I190T |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,160,050 (GRCm39) |
I166N |
probably damaging |
Het |
Rgs17 |
T |
A |
10: 5,792,567 (GRCm39) |
K60* |
probably null |
Het |
Ripor2 |
C |
T |
13: 24,859,768 (GRCm39) |
T152M |
probably damaging |
Het |
Scgb1b2 |
A |
T |
7: 30,991,200 (GRCm39) |
|
probably benign |
Het |
Scn3a |
C |
A |
2: 65,344,979 (GRCm39) |
R503M |
probably damaging |
Het |
Scn4a |
C |
A |
11: 106,236,367 (GRCm39) |
D298Y |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,648 (GRCm39) |
F1679S |
probably damaging |
Het |
Scyl3 |
G |
T |
1: 163,767,553 (GRCm39) |
|
probably null |
Het |
Sec23ip |
A |
G |
7: 128,368,005 (GRCm39) |
|
probably null |
Het |
She |
C |
T |
3: 89,756,921 (GRCm39) |
A325V |
possibly damaging |
Het |
Skint2 |
T |
G |
4: 112,483,195 (GRCm39) |
M200R |
probably damaging |
Het |
Slc17a5 |
A |
T |
9: 78,485,981 (GRCm39) |
C35S |
probably damaging |
Het |
Slc25a24 |
T |
A |
3: 109,070,819 (GRCm39) |
S393T |
probably damaging |
Het |
Slc6a19 |
C |
T |
13: 73,834,243 (GRCm39) |
V320M |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,674,249 (GRCm39) |
D579G |
possibly damaging |
Het |
Spats2l |
C |
T |
1: 57,985,383 (GRCm39) |
R479C |
probably damaging |
Het |
Syngr3 |
G |
C |
17: 24,905,642 (GRCm39) |
|
probably null |
Het |
Tas2r107 |
A |
C |
6: 131,636,785 (GRCm39) |
I88R |
probably damaging |
Het |
Them7 |
A |
T |
2: 105,128,259 (GRCm39) |
N80I |
probably damaging |
Het |
Tmprss7 |
C |
T |
16: 45,482,516 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,764,369 (GRCm39) |
N624D |
possibly damaging |
Het |
Trpm2 |
T |
G |
10: 77,778,833 (GRCm39) |
I378L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,554,876 (GRCm39) |
W30676L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,774,384 (GRCm39) |
V2220A |
unknown |
Het |
Uba6 |
T |
C |
5: 86,302,266 (GRCm39) |
T134A |
probably benign |
Het |
Vmn2r55 |
A |
G |
7: 12,418,678 (GRCm39) |
S81P |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,975,548 (GRCm39) |
S606T |
probably damaging |
Het |
Zfp653 |
C |
A |
9: 21,967,155 (GRCm39) |
A577S |
probably damaging |
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 |
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 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
RF033:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
frame shift |
probably null |
|
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 |
|
T0975:Nefh
|
UTSW |
11 |
4,890,151 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Nefh
|
UTSW |
11 |
4,890,530 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCACACCCAACTTGGCAGGAG -3'
(R):5'- CCGTGAAGGAAGATATCAAGCCCC -3'
Sequencing Primer
(F):5'- AACTTGGCAGGAGTCTCCTC -3'
(R):5'- AAGCCTCTAGATGTGAAGTCTCC -3'
|
Posted On |
2014-04-24 |