Incidental Mutation 'R0531:Nefh'
| ID |
49172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
038723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4890240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 793
(A793V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093369
AA Change: A793V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: A793V
| 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 |
|
| Meta Mutation Damage Score |
0.4672 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,127 (GRCm39) |
N130D |
probably benign |
Het |
| Acot6 |
C |
A |
12: 84,148,075 (GRCm39) |
D110E |
probably benign |
Het |
| Agrn |
T |
A |
4: 156,263,891 (GRCm39) |
N124I |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,427,959 (GRCm39) |
G710V |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,220,148 (GRCm39) |
V15A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,840,280 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,090,974 (GRCm39) |
I743N |
probably damaging |
Het |
| Cenpa |
T |
C |
5: 30,829,837 (GRCm39) |
F39L |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,221,789 (GRCm39) |
M1L |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,122,541 (GRCm39) |
I107M |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,277,351 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,889,787 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,974,781 (GRCm39) |
Y404C |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,932,633 (GRCm39) |
I125T |
possibly damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,298 (GRCm39) |
E159K |
possibly damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,657,003 (GRCm39) |
H71Q |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,427,375 (GRCm39) |
Y2926N |
probably damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,691 (GRCm39) |
D23E |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,461 (GRCm39) |
F3S |
probably benign |
Het |
| Gm11555 |
C |
T |
11: 99,540,844 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,604,292 (GRCm39) |
G667S |
probably damaging |
Het |
| H2-T24 |
A |
C |
17: 36,326,463 (GRCm39) |
S145R |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,689,249 (GRCm39) |
N843I |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,139,620 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
A |
15: 101,909,883 (GRCm39) |
M174L |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,901,398 (GRCm39) |
T52I |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,523 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,593,835 (GRCm39) |
V840A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,356,584 (GRCm39) |
S1678P |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,009,767 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,168 (GRCm39) |
T49A |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,674 (GRCm39) |
I151V |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,171 (GRCm39) |
N137Y |
probably damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,234 (GRCm39) |
I42F |
possibly damaging |
Het |
| Or8g17 |
G |
T |
9: 38,930,472 (GRCm39) |
R122S |
probably damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pak4 |
T |
A |
7: 28,267,479 (GRCm39) |
I62F |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,371 (GRCm39) |
F506I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,995,016 (GRCm39) |
D632V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,498 (GRCm39) |
M2678T |
probably benign |
Het |
| Plg |
A |
G |
17: 12,630,334 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,627,048 (GRCm39) |
S304R |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,990,537 (GRCm39) |
F50L |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,984,117 (GRCm39) |
L159P |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,481 (GRCm39) |
N432K |
possibly damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,020,621 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,426 (GRCm39) |
D1170V |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,762,351 (GRCm39) |
|
probably null |
Het |
| Sall4 |
C |
T |
2: 168,598,256 (GRCm39) |
A195T |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,966,530 (GRCm39) |
|
probably benign |
Het |
| Scaper |
A |
T |
9: 55,517,158 (GRCm39) |
D599E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,876 (GRCm39) |
S484N |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,962,761 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,031,166 (GRCm39) |
T623A |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,539,090 (GRCm39) |
D95G |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,451 (GRCm39) |
D660G |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,851,866 (GRCm39) |
Q664L |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,624,375 (GRCm39) |
I512V |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,797 (GRCm39) |
T133A |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,836,300 (GRCm39) |
*175W |
probably null |
Het |
| Stk32c |
C |
A |
7: 138,700,636 (GRCm39) |
V316F |
probably damaging |
Het |
| Tekt1 |
A |
C |
11: 72,236,420 (GRCm39) |
N347K |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,776,786 (GRCm39) |
C498S |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,955 (GRCm39) |
R281* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 37,991,588 (GRCm39) |
I1985N |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,175,378 (GRCm39) |
S1159A |
probably benign |
Het |
| Vmn1r15 |
C |
T |
6: 57,235,236 (GRCm39) |
P35S |
probably benign |
Het |
| Vmn1r6 |
A |
T |
6: 56,979,583 (GRCm39) |
I60L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,561 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,874,272 (GRCm39) |
V113A |
possibly 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 |
|
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 |
4,891,039 (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'- TTGGGAGCCACCTTTTCAGAAGTC -3'
(R):5'- TGAAGCCAAATCTCCAGCTACAGTG -3'
Sequencing Primer
(F):5'- AGGACTTTTCACCTGCTCAG -3'
(R):5'- gctgagcccaagtcacc -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation