Incidental Mutation 'R8704:Nefm'
ID |
669206 |
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 |
068558-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.375)
|
Stock # |
R8704 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
68356994-68362453 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68358510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 508
(E508G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022638]
[ENSMUST00000111089]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000022638
AA Change: E508G
|
SMART Domains |
Protein: ENSMUSP00000022638 Gene: ENSMUSG00000022054 AA Change: E508G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
Validation Efficiency |
98% (39/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
Mib2 |
A |
G |
4: 155,743,620 (GRCm39) |
M275T |
possibly damaging |
Het |
Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGACAGCCACTTCCTCAAC -3'
(R):5'- ACAAATTTGTGGAGGAGATCATCG -3'
Sequencing Primer
(F):5'- GACAGCCACTTCCTCAACCTTTC -3'
(R):5'- TTTGTGGAGGAGATCATCGAAGAAAC -3'
|
Posted On |
2021-04-30 |