Incidental Mutation 'R9101:Nefh'
| ID |
691699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
068915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9101 (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 4890925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 565
(S565P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093369
AA Change: S565P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S565P
| 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 |
98% (59/60) |
| 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 |
|---|
| Adam6b |
T |
C |
12: 113,455,376 (GRCm39) |
V731A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,071,794 (GRCm39) |
|
probably null |
Het |
| Afdn |
T |
C |
17: 14,043,706 (GRCm39) |
V388A |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,427,599 (GRCm39) |
Y113H |
possibly damaging |
Het |
| Aox1 |
C |
T |
1: 58,371,796 (GRCm39) |
P820L |
probably benign |
Het |
| Avil |
A |
G |
10: 126,852,873 (GRCm39) |
D731G |
probably benign |
Het |
| Blvra |
C |
T |
2: 126,927,890 (GRCm39) |
L47F |
probably damaging |
Het |
| Bmerb1 |
T |
A |
16: 13,867,259 (GRCm39) |
I39N |
probably damaging |
Het |
| Ccdc85c |
C |
A |
12: 108,240,917 (GRCm39) |
R159L |
unknown |
Het |
| Clcn2 |
T |
C |
16: 20,525,979 (GRCm39) |
D797G |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,532,738 (GRCm39) |
F619I |
possibly damaging |
Het |
| Dnajb1 |
C |
A |
8: 84,335,119 (GRCm39) |
D53E |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,852,839 (GRCm39) |
D89G |
probably damaging |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gm9507 |
A |
G |
10: 77,647,650 (GRCm39) |
S10P |
unknown |
Het |
| Hacd2 |
G |
A |
16: 34,920,156 (GRCm39) |
V138I |
probably benign |
Het |
| Hhip |
A |
T |
8: 80,770,591 (GRCm39) |
V272D |
probably damaging |
Het |
| Hoga1 |
A |
C |
19: 42,048,347 (GRCm39) |
T72P |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,078,893 (GRCm39) |
G414S |
probably damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,500,205 (GRCm39) |
D264E |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,376,942 (GRCm39) |
R205C |
probably damaging |
Het |
| Ly6a |
A |
T |
15: 74,869,419 (GRCm39) |
L12Q |
probably null |
Het |
| Mastl |
A |
G |
2: 23,008,449 (GRCm39) |
*866Q |
probably null |
Het |
| Mpzl3 |
T |
A |
9: 44,981,983 (GRCm39) |
M217K |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,929,935 (GRCm39) |
M7K |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,554,687 (GRCm39) |
R273W |
probably null |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nsd1 |
C |
T |
13: 55,461,359 (GRCm39) |
L2632F |
|
Het |
| Or10d1 |
T |
A |
9: 39,483,805 (GRCm39) |
Y250F |
probably benign |
Het |
| Or1a1b |
C |
T |
11: 74,097,322 (GRCm39) |
C240Y |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,358,721 (GRCm39) |
I11N |
possibly damaging |
Het |
| Or51ac3 |
A |
T |
7: 103,213,680 (GRCm39) |
F269I |
possibly damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,137 (GRCm39) |
V145A |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,694,523 (GRCm39) |
|
probably benign |
Het |
| Or5w18 |
T |
C |
2: 87,632,924 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,393 (GRCm39) |
V371A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,945 (GRCm39) |
K263E |
possibly damaging |
Het |
| Phf3 |
C |
T |
1: 30,843,026 (GRCm39) |
A1978T |
possibly damaging |
Het |
| Phykpl |
C |
A |
11: 51,483,741 (GRCm39) |
T207K |
probably benign |
Het |
| Pkd2 |
T |
A |
5: 104,628,230 (GRCm39) |
C435S |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel52-ps |
G |
A |
5: 94,531,899 (GRCm39) |
C261Y |
probably damaging |
Het |
| Prkra |
T |
A |
2: 76,478,184 (GRCm39) |
H6L |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,090,078 (GRCm39) |
K131E |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,255 (GRCm39) |
V762A |
probably benign |
Het |
| Prr27 |
C |
T |
5: 87,991,330 (GRCm39) |
T314I |
probably damaging |
Het |
| Ptges3 |
A |
G |
10: 127,907,998 (GRCm39) |
D116G |
possibly damaging |
Het |
| Rab11fip5 |
G |
T |
6: 85,317,675 (GRCm39) |
F1071L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,905,175 (GRCm39) |
V66A |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,815,740 (GRCm39) |
D764V |
probably benign |
Het |
| Ten1 |
A |
G |
11: 116,096,562 (GRCm39) |
Y72C |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,745,186 (GRCm39) |
L1125S |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,557 (GRCm39) |
I159F |
possibly damaging |
Het |
| Tmppe |
T |
C |
9: 114,234,309 (GRCm39) |
S203P |
probably damaging |
Het |
| Ttc23l |
A |
T |
15: 10,537,661 (GRCm39) |
I203N |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,969,980 (GRCm39) |
L803P |
possibly damaging |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,471 (GRCm39) |
I733F |
|
Het |
| Xxylt1 |
T |
C |
16: 30,899,745 (GRCm39) |
N137D |
possibly damaging |
Het |
| Zc3h13 |
G |
A |
14: 75,561,042 (GRCm39) |
R544Q |
unknown |
Het |
| Zfhx4 |
C |
T |
3: 5,477,198 (GRCm39) |
T3271I |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,212,392 (GRCm39) |
C493S |
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 |
|
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 |
|
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'- ATTTGGCTTCAGCTGGTGAC -3'
(R):5'- AGAAGAGGCTGCATCTCCAG -3'
Sequencing Primer
(F):5'- ACTTGGCTTCAGCTGGTGAC -3'
(R):5'- GGCTGCATCTCCAGAAAAAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation