Incidental Mutation 'R9291:Nefh'
| ID |
704290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4890871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 583
(S583P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093369
AA Change: S583P
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S583P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,464 (GRCm39) |
N551S |
probably benign |
Het |
| Abcg5 |
C |
A |
17: 84,976,380 (GRCm39) |
V486L |
probably benign |
Het |
| Acoxl |
T |
A |
2: 127,814,493 (GRCm39) |
I303N |
probably damaging |
Het |
| Atp6v1h |
G |
T |
1: 5,220,284 (GRCm39) |
W464L |
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,964,053 (GRCm39) |
D301G |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,429,688 (GRCm39) |
D115G |
probably benign |
Het |
| Cnfn |
T |
C |
7: 25,067,476 (GRCm39) |
D67G |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,142,539 (GRCm39) |
I76L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,682,213 (GRCm39) |
V865I |
probably damaging |
Het |
| Ctf1 |
T |
A |
7: 127,316,204 (GRCm39) |
L58Q |
probably damaging |
Het |
| Dennd6b |
C |
T |
15: 89,071,590 (GRCm39) |
V276M |
possibly damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,901,215 (GRCm39) |
T483A |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,099 (GRCm39) |
I1772T |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,251 (GRCm39) |
I170T |
probably damaging |
Het |
| Ehd4 |
G |
T |
2: 119,921,755 (GRCm39) |
D500E |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,883,142 (GRCm39) |
I388T |
probably damaging |
Het |
| Entpd6 |
G |
A |
2: 150,608,959 (GRCm39) |
V348M |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,056,065 (GRCm39) |
C1746* |
probably null |
Het |
| Exosc2 |
G |
T |
2: 31,560,871 (GRCm39) |
M40I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,593,835 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gm8005 |
A |
G |
14: 42,258,885 (GRCm39) |
F148L |
|
Het |
| Hectd4 |
T |
C |
5: 121,487,028 (GRCm39) |
V3341A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,491,522 (GRCm39) |
V77A |
probably benign |
Het |
| Irf2bp1 |
T |
A |
7: 18,738,458 (GRCm39) |
C33S |
probably damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,688 (GRCm39) |
H586Q |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,390,041 (GRCm39) |
N619S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,475,140 (GRCm39) |
E13G |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,310,379 (GRCm39) |
D2731E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,883,938 (GRCm39) |
N2942S |
probably benign |
Het |
| Maml3 |
G |
A |
3: 51,764,328 (GRCm39) |
T212M |
probably benign |
Het |
| Mill2 |
T |
C |
7: 18,575,416 (GRCm39) |
V41A |
probably benign |
Het |
| Moxd2 |
C |
A |
6: 40,857,362 (GRCm39) |
C466F |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,758,511 (GRCm39) |
S583T |
possibly damaging |
Het |
| Nup214 |
T |
G |
2: 31,867,806 (GRCm39) |
M91R |
probably benign |
Het |
| Or4c121 |
A |
C |
2: 89,024,138 (GRCm39) |
M80R |
possibly damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,202 (GRCm39) |
I124T |
probably damaging |
Het |
| Or8k53 |
A |
T |
2: 86,177,768 (GRCm39) |
I114N |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,372,952 (GRCm39) |
Y90C |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,825,284 (GRCm39) |
T575N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,433,372 (GRCm39) |
N3417K |
probably damaging |
Het |
| Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
| Pramel26 |
A |
T |
4: 143,539,251 (GRCm39) |
Y81N |
probably benign |
Het |
| Rchy1 |
A |
G |
5: 92,099,765 (GRCm39) |
L191S |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,467,746 (GRCm39) |
D296G |
|
Het |
| Sftpb |
T |
A |
6: 72,286,880 (GRCm39) |
C261* |
probably null |
Het |
| Sgcd |
C |
T |
11: 46,870,166 (GRCm39) |
C265Y |
probably damaging |
Het |
| Slc44a5 |
G |
A |
3: 153,962,218 (GRCm39) |
V384M |
possibly damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,716 (GRCm39) |
N132K |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,473,330 (GRCm39) |
T4861M |
probably damaging |
Het |
| Swt1 |
T |
A |
1: 151,286,694 (GRCm39) |
E266V |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,750 (GRCm39) |
D903G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,611,535 (GRCm39) |
M165K |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,706,799 (GRCm39) |
N282S |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,153,556 (GRCm39) |
I140M |
probably benign |
Het |
| Trak2 |
A |
G |
1: 58,943,058 (GRCm39) |
S783P |
probably damaging |
Het |
| Trpv4 |
G |
A |
5: 114,768,068 (GRCm39) |
T534M |
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,622,730 (GRCm39) |
R43M |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,428,875 (GRCm39) |
Y164C |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,023 (GRCm39) |
Y165C |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,847,059 (GRCm39) |
T2614K |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,698,237 (GRCm39) |
F102S |
probably benign |
Het |
| Zyg11b |
A |
G |
4: 108,108,014 (GRCm39) |
M464T |
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 |
|
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'- AGATGGTGACTTGGCCTCAC -3'
(R):5'- TCTCGTGTGAAAGAAGAGGC -3'
Sequencing Primer
(F):5'- ACCTGGAGACTTCACTGTAGCTG -3'
(R):5'- GAAGAGGCCAAGTCCCCAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation