Incidental Mutation 'R8775:Nefm'
| ID |
664675 |
| 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 |
068719-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
R8775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
68356994-68362453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68362108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 52
(Y52C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022638]
[ENSMUST00000111089]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022638
AA Change: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: Y52C
| 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 damaging
Transcript: ENSMUST00000111089
AA Change: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
AA Change: Y52C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament_head
|
9 |
97 |
1.6e-16 |
PFAM |
|
Pfam:Filament
|
98 |
403 |
1.1e-104 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,552,142 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
C |
7: 80,727,598 (GRCm39) |
M243L |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,499,093 (GRCm39) |
Y860N |
possibly damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,321 (GRCm39) |
S56P |
probably damaging |
Het |
| D130043K22Rik |
G |
T |
13: 25,040,982 (GRCm39) |
E135* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,511,711 (GRCm39) |
H293R |
possibly damaging |
Het |
| Dsg1a |
C |
T |
18: 20,473,564 (GRCm39) |
S879L |
probably damaging |
Het |
| Fbxo24 |
C |
T |
5: 137,611,213 (GRCm39) |
A526T |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,810,891 (GRCm39) |
D126E |
probably benign |
Het |
| Gpr137 |
A |
G |
19: 6,915,800 (GRCm39) |
F377L |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Iigp1 |
A |
C |
18: 60,523,596 (GRCm39) |
Y238S |
probably damaging |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,782,149 (GRCm39) |
N258S |
possibly damaging |
Het |
| Lcat |
A |
G |
8: 106,669,023 (GRCm39) |
I84T |
possibly damaging |
Het |
| Mansc1 |
C |
T |
6: 134,587,631 (GRCm39) |
R182H |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,148,006 (GRCm39) |
M1685T |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,800,145 (GRCm39) |
V1407E |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,375,410 (GRCm39) |
S297P |
probably benign |
Het |
| Ntng2 |
A |
T |
2: 29,117,976 (GRCm39) |
N157K |
possibly damaging |
Het |
| Oscp1 |
T |
C |
4: 125,970,619 (GRCm39) |
V136A |
probably benign |
Het |
| Oser1 |
G |
A |
2: 163,249,004 (GRCm39) |
T66I |
probably benign |
Het |
| Palld |
A |
G |
8: 62,138,006 (GRCm39) |
L583P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,760,522 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
G |
9: 101,004,204 (GRCm39) |
Y378H |
probably benign |
Het |
| Prss33 |
T |
A |
17: 24,052,885 (GRCm39) |
N263I |
possibly damaging |
Het |
| Psg25 |
A |
C |
7: 18,255,153 (GRCm39) |
C454W |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,649,001 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
A |
T |
5: 34,719,751 (GRCm39) |
S587C |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,664,006 (GRCm39) |
F493L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,472 (GRCm39) |
T339S |
possibly damaging |
Het |
| Taok1 |
T |
C |
11: 77,470,632 (GRCm39) |
K58E |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,749,643 (GRCm39) |
D838G |
possibly damaging |
Het |
| Tulp2 |
A |
G |
7: 45,164,914 (GRCm39) |
T65A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,638,466 (GRCm39) |
S205T |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r37 |
A |
T |
7: 9,218,991 (GRCm39) |
Y464* |
probably null |
Het |
| Wdsub1 |
A |
G |
2: 59,693,014 (GRCm39) |
M300T |
probably damaging |
Het |
| Xrcc5 |
C |
T |
1: 72,433,089 (GRCm39) |
T716I |
probably benign |
Het |
| Zfp619 |
G |
T |
7: 39,184,639 (GRCm39) |
C223F |
possibly 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 |
|
|
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-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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTCTCGATGTAGCCG -3'
(R):5'- AGCTGCTCCGCTATAAAGGG -3'
Sequencing Primer
(F):5'- TTCTCGATGTAGCCGGCGAAG -3'
(R):5'- CGCTATAAAGGGGCTGCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation