Incidental Mutation 'R0055:Nefm'
ID |
15884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nefm
|
Ensembl Gene |
ENSMUSG00000022054 |
Gene Name |
neurofilament, medium polypeptide |
Synonyms |
NF-M, Nfm, neurofilament-M, NF160, NF165, Nef3 |
MMRRC Submission |
038349-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.375)
|
Stock # |
R0055 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
68356994-68362453 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 68358648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022638]
[ENSMUST00000111089]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000022638
AA Change: E462V
|
SMART Domains |
Protein: ENSMUSP00000022638 Gene: ENSMUSG00000022054 AA Change: E462V
Domain | Start | End | E-Value | Type |
Pfam:Filament_head
|
9 |
97 |
2.6e-18 |
PFAM |
Filament
|
98 |
409 |
1.16e-131 |
SMART |
coiled coil region
|
460 |
533 |
N/A |
INTRINSIC |
low complexity region
|
540 |
604 |
N/A |
INTRINSIC |
low complexity region
|
608 |
668 |
N/A |
INTRINSIC |
low complexity region
|
703 |
719 |
N/A |
INTRINSIC |
low complexity region
|
736 |
754 |
N/A |
INTRINSIC |
low complexity region
|
777 |
796 |
N/A |
INTRINSIC |
low complexity region
|
816 |
824 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111089
|
SMART Domains |
Protein: ENSMUSP00000106718 Gene: ENSMUSG00000022054
Domain | Start | End | E-Value | Type |
Pfam:Filament_head
|
9 |
97 |
1.6e-16 |
PFAM |
Pfam:Filament
|
98 |
403 |
1.1e-104 |
PFAM |
|
Meta Mutation Damage Score |
0.4286 |
Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
Validation Efficiency |
85% (52/61) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced axon diameter. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
probably damaging |
Het |
|
Other mutations in Nefm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02281:Nefm
|
APN |
14 |
68,361,913 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02379:Nefm
|
APN |
14 |
68,357,688 (GRCm39) |
intron |
probably benign |
|
IGL02664:Nefm
|
APN |
14 |
68,357,664 (GRCm39) |
intron |
probably benign |
|
IGL03115:Nefm
|
APN |
14 |
68,357,728 (GRCm39) |
intron |
probably benign |
|
IGL03328:Nefm
|
APN |
14 |
68,358,739 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03055:Nefm
|
UTSW |
14 |
68,360,358 (GRCm39) |
missense |
probably damaging |
0.98 |
P0025:Nefm
|
UTSW |
14 |
68,358,414 (GRCm39) |
intron |
probably benign |
|
R0055:Nefm
|
UTSW |
14 |
68,358,648 (GRCm39) |
intron |
probably benign |
|
R0111:Nefm
|
UTSW |
14 |
68,361,991 (GRCm39) |
missense |
probably benign |
0.43 |
R0240:Nefm
|
UTSW |
14 |
68,358,583 (GRCm39) |
nonsense |
probably null |
|
R0240:Nefm
|
UTSW |
14 |
68,358,583 (GRCm39) |
nonsense |
probably null |
|
R0480:Nefm
|
UTSW |
14 |
68,361,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0505:Nefm
|
UTSW |
14 |
68,361,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R0565:Nefm
|
UTSW |
14 |
68,362,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Nefm
|
UTSW |
14 |
68,358,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Nefm
|
UTSW |
14 |
68,361,563 (GRCm39) |
missense |
probably benign |
0.02 |
R2680:Nefm
|
UTSW |
14 |
68,361,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Nefm
|
UTSW |
14 |
68,361,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Nefm
|
UTSW |
14 |
68,358,570 (GRCm39) |
intron |
probably benign |
|
R5426:Nefm
|
UTSW |
14 |
68,357,515 (GRCm39) |
intron |
probably benign |
|
R5613:Nefm
|
UTSW |
14 |
68,358,583 (GRCm39) |
nonsense |
probably null |
|
R5989:Nefm
|
UTSW |
14 |
68,361,778 (GRCm39) |
missense |
probably benign |
0.16 |
R7255:Nefm
|
UTSW |
14 |
68,353,449 (GRCm39) |
missense |
probably benign |
0.08 |
R8704:Nefm
|
UTSW |
14 |
68,358,510 (GRCm39) |
missense |
unknown |
|
R8775:Nefm
|
UTSW |
14 |
68,362,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R8775-TAIL:Nefm
|
UTSW |
14 |
68,362,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R9250:Nefm
|
UTSW |
14 |
68,358,570 (GRCm39) |
intron |
probably benign |
|
R9720:Nefm
|
UTSW |
14 |
68,358,793 (GRCm39) |
missense |
probably benign |
0.39 |
|
Posted On |
2013-01-08 |