Incidental Mutation 'IGL03055:Nefm'
| ID |
453400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefm
|
| Ensembl Gene |
ENSMUSG00000022054 |
| Gene Name |
neurofilament, medium polypeptide |
| Synonyms |
NF-M, Nfm, neurofilament-M, NF160, NF165, Nef3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.375)
|
| Stock # |
IGL03055 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68356994-68362453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68360358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 371
(T371A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022638]
[ENSMUST00000111089]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022638
AA Change: T371A
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022638
Gene: ENSMUSG00000022054
AA Change: T371A
| 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: T371A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106718
Gene: ENSMUSG00000022054
AA Change: T371A
| 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 |
0.3615 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,503,072 (GRCm39) |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,092 (GRCm39) |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 (GRCm39) |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 (GRCm39) |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,837,516 (GRCm39) |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,817,054 (GRCm39) |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,559,645 (GRCm39) |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,145,515 (GRCm39) |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,697 (GRCm39) |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,191,211 (GRCm39) |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,729,481 (GRCm39) |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,339,529 (GRCm39) |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,493,883 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,115,831 (GRCm39) |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,557,836 (GRCm39) |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,288,792 (GRCm39) |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 (GRCm39) |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,278,190 (GRCm39) |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,198,230 (GRCm39) |
|
probably benign |
Het |
| Or52p1 |
A |
T |
7: 104,267,413 (GRCm39) |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,523,069 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,071,879 (GRCm39) |
K128R |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,375,533 (GRCm39) |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,647,370 (GRCm39) |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,172,732 (GRCm39) |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,103,187 (GRCm39) |
T481I |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,104,971 (GRCm39) |
L524P |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,902 (GRCm39) |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,299,021 (GRCm39) |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,872,959 (GRCm39) |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 79,963,920 (GRCm39) |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 (GRCm39) |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 65,083,939 (GRCm39) |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,822,013 (GRCm39) |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,019 (GRCm39) |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,515 (GRCm39) |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,293,251 (GRCm39) |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,332,810 (GRCm39) |
C79G |
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 |
|
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: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'- TCTGTTCGTAACTGAGCTGG -3'
(R):5'- ATAGCTAGGAGGGATGTCTGCG -3'
Sequencing Primer
(F):5'- CTCACTAGGCCAGCTTTGGTTTAAG -3'
(R):5'- ATGTCTGCGAGGCTCATG -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation