Incidental Mutation 'R2165:Nefh'
| ID |
235441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
040168-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4893872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 394
(D394G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093369
AA Change: D394G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: D394G
| 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 |
0.1384 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (71/72) |
| 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 |
|---|
| Abca4 |
A |
G |
3: 121,906,048 (GRCm39) |
T806A |
possibly damaging |
Het |
| Adgre1 |
T |
G |
17: 57,726,338 (GRCm39) |
L403R |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,133,398 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,763,210 (GRCm39) |
D506E |
possibly damaging |
Het |
| Ascc3 |
T |
G |
10: 50,597,935 (GRCm39) |
Y1268D |
probably damaging |
Het |
| Bik |
A |
G |
15: 83,425,624 (GRCm39) |
M42V |
probably benign |
Het |
| Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,643,201 (GRCm39) |
I1048V |
probably benign |
Het |
| Cad |
A |
G |
5: 31,219,564 (GRCm39) |
N621S |
probably damaging |
Het |
| Camkv |
C |
A |
9: 107,822,799 (GRCm39) |
N69K |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,876 (GRCm39) |
M589T |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,389,864 (GRCm39) |
V498E |
probably damaging |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,691 (GRCm39) |
L252P |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,390,953 (GRCm39) |
C690R |
probably damaging |
Het |
| Cfap157 |
T |
G |
2: 32,668,175 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
G |
5: 122,025,540 (GRCm39) |
S43P |
possibly damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,925,880 (GRCm39) |
P21S |
probably damaging |
Het |
| Cyp51 |
T |
G |
5: 4,136,594 (GRCm39) |
Q400P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,137,152 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,642,688 (GRCm39) |
V1104I |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,688 (GRCm39) |
I90M |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,378,523 (GRCm39) |
N269S |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,673,444 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,194,542 (GRCm39) |
F1166L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,686 (GRCm39) |
N260D |
probably benign |
Het |
| Fnbp4 |
T |
A |
2: 90,597,743 (GRCm39) |
|
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,733 (GRCm39) |
*360Y |
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,734 (GRCm39) |
*360L |
probably null |
Het |
| Gm3727 |
T |
A |
14: 7,264,625 (GRCm38) |
Q10L |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Haspin |
A |
C |
11: 73,027,456 (GRCm39) |
N544K |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,669,379 (GRCm39) |
N286S |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,436,246 (GRCm39) |
C1307G |
probably damaging |
Het |
| Lrrc2 |
A |
C |
9: 110,808,645 (GRCm39) |
H294P |
possibly damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,360 (GRCm39) |
|
probably null |
Het |
| Mon2 |
A |
C |
10: 122,878,269 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,070 (GRCm39) |
I281V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,294 (GRCm39) |
E118G |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,047 (GRCm39) |
T168A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,211 (GRCm39) |
N207D |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,713 (GRCm39) |
C127S |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,845 (GRCm39) |
T239A |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,446 (GRCm39) |
N265K |
probably benign |
Het |
| Oxsr1 |
A |
C |
9: 119,123,498 (GRCm39) |
M92R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,945,516 (GRCm39) |
|
probably null |
Het |
| Pex5l |
T |
A |
3: 33,007,281 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,549,984 (GRCm39) |
M1025K |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,605,903 (GRCm39) |
E1325K |
probably benign |
Het |
| Plin2 |
A |
T |
4: 86,586,669 (GRCm39) |
V54E |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,887 (GRCm39) |
I298N |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,546 (GRCm39) |
R1017G |
probably benign |
Het |
| Psg19 |
T |
A |
7: 18,530,911 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Serpinb1a |
T |
C |
13: 33,034,397 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,266,794 (GRCm39) |
V265E |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,282 (GRCm39) |
Y337* |
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,968,663 (GRCm39) |
V138A |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,314 (GRCm39) |
Y220C |
probably damaging |
Het |
| Slc66a3 |
G |
A |
12: 17,039,840 (GRCm39) |
L192F |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,890,392 (GRCm39) |
S20T |
probably benign |
Het |
| Tcstv2a |
A |
T |
13: 120,725,633 (GRCm39) |
Q99L |
probably damaging |
Het |
| Thsd1 |
G |
T |
8: 22,728,538 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
G |
A |
17: 25,299,566 (GRCm39) |
|
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,540,721 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,612,072 (GRCm39) |
F655Y |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,553 (GRCm39) |
K852E |
unknown |
Het |
| Wdpcp |
T |
G |
11: 21,641,884 (GRCm39) |
L174R |
probably damaging |
Het |
| Zbbx |
G |
A |
3: 75,019,414 (GRCm39) |
P99S |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp600 |
A |
T |
4: 146,133,488 (GRCm39) |
R719* |
probably null |
Het |
| Zfp697 |
C |
A |
3: 98,335,330 (GRCm39) |
A365E |
unknown |
Het |
| Zfp957 |
A |
C |
14: 79,451,053 (GRCm39) |
S249A |
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 |
|
|
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'- GGGTTAAGGCTCACAACTGAAATAC -3'
(R):5'- TCGAAACTTTGCCAGGGTGG -3'
Sequencing Primer
(F):5'- GGCTCACAACTGAAATACTTTGGGC -3'
(R):5'- TTGTCCTCCAGCCAGGTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation