Incidental Mutation 'RF016:Nefh'
| ID |
603569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF016 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (6 aa in frame mutation) |
| DNA Base Change (assembly) |
TCACCTGGGGACT to TCACCTGGGGACTCGGCCCCACCTGGGGACT
at 4891023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093369
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGCTGTGGC |
TGCTGTGGCGGCTGTGGC |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
| Abi3bp |
GCCCACGACCC |
GCCCACGACCCACGACCC |
16: 56,447,950 (GRCm39) |
|
probably null |
Het |
| Amer3 |
A |
G |
1: 34,626,201 (GRCm39) |
I147V |
probably damaging |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGACGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
G |
A |
1: 75,172,477 (GRCm39) |
R259H |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,619,714 (GRCm39) |
V170A |
probably benign |
Het |
| Asb3 |
A |
G |
11: 31,011,407 (GRCm39) |
I267M |
possibly damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,185 (GRCm39) |
E1636G |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,996,319 (GRCm39) |
V4513F |
probably damaging |
Het |
| Blm |
CCTCCTCC |
CCTCCTCCTCCTACTCCTCC |
7: 80,162,674 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
G |
A |
8: 96,264,733 (GRCm39) |
R81H |
probably benign |
Het |
| Ccdc27 |
T |
C |
4: 154,120,567 (GRCm39) |
R410G |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,852,097 (GRCm39) |
V435A |
possibly damaging |
Het |
| Cercam |
T |
C |
2: 29,759,317 (GRCm39) |
S15P |
unknown |
Het |
| Cntrl |
T |
C |
2: 35,009,998 (GRCm39) |
V224A |
probably benign |
Het |
| Comtd1 |
T |
A |
14: 21,898,664 (GRCm39) |
Q56L |
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,789 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
AGGGA |
AGGGATGGGACAGACCCACTGCCCCGGGA |
9: 86,922,497 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGTGACAGACACACTGCCCAGGGA |
TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA |
9: 86,922,478 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCCAGGGA |
CCCAGGGATGTGACAGACACACTGACCAGGGA |
9: 86,922,494 (GRCm39) |
|
probably benign |
Het |
| Cyld |
T |
A |
8: 89,432,069 (GRCm39) |
Y22* |
probably null |
Het |
| Dbt |
T |
C |
3: 116,333,363 (GRCm39) |
Y278H |
probably damaging |
Het |
| Ddb1 |
A |
G |
19: 10,605,222 (GRCm39) |
H1070R |
probably damaging |
Het |
| Dek |
G |
T |
13: 47,251,662 (GRCm39) |
S248* |
probably null |
Het |
| Dixdc1 |
T |
C |
9: 50,604,941 (GRCm39) |
T300A |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,589 (GRCm39) |
S334T |
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,067 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,096,646 (GRCm39) |
N306S |
probably benign |
Het |
| Fcer1a |
T |
C |
1: 173,053,086 (GRCm39) |
I37V |
possibly damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,779,410 (GRCm39) |
Q639K |
probably benign |
Het |
| Ftdc1 |
T |
A |
16: 58,437,230 (GRCm39) |
N26I |
probably damaging |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,591 (GRCm39) |
|
probably null |
Het |
| Gins4 |
T |
C |
8: 23,722,626 (GRCm39) |
M98V |
probably benign |
Het |
| Gm8369 |
GTGTGTGT |
GTGTGTGTTTGTGTGT |
19: 11,489,118 (GRCm39) |
|
probably null |
Het |
| Grik1 |
G |
A |
16: 87,831,074 (GRCm39) |
S232L |
|
Het |
| Gsg1l |
A |
G |
7: 125,619,794 (GRCm39) |
|
probably null |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| H2-DMb1 |
A |
T |
17: 34,376,360 (GRCm39) |
S160C |
probably damaging |
Het |
| Hsdl2 |
GCAGCCACAGCTGCAG |
GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG |
4: 59,610,643 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TTTCCTTTTCCTTTT |
TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT |
9: 106,447,808 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,938,176 (GRCm39) |
T275S |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,350,660 (GRCm39) |
I158K |
probably damaging |
Het |
| Krtap28-10 |
TCCC |
TCCCGCACCC |
1: 83,019,844 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,339,549 (GRCm39) |
M1121L |
probably benign |
Het |
| M6pr |
C |
T |
6: 122,292,124 (GRCm39) |
A152V |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,671,379 (GRCm39) |
Y218C |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,396,925 (GRCm39) |
V26I |
|
Het |
| Mro |
CA |
CAAACTCGGA |
18: 74,003,035 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
T |
C |
9: 104,952,452 (GRCm39) |
V303A |
probably benign |
Het |
| Nid2 |
GGCTAACACCGC |
GGC |
14: 19,801,431 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA |
2: 119,458,082 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Or6d12 |
G |
T |
6: 116,493,004 (GRCm39) |
A89S |
probably benign |
Het |
| Ovol1 |
A |
G |
19: 5,603,640 (GRCm39) |
V87A |
probably benign |
Het |
| Pdpk1 |
T |
A |
17: 24,312,255 (GRCm39) |
E290D |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,174 (GRCm39) |
S340T |
probably benign |
Het |
| Pknox2 |
ACACACACACACACACTCAC |
ACAC |
9: 36,820,905 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GC |
GCGGCGCC |
4: 124,551,602 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,475 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
G |
2: 181,273,869 (GRCm39) |
M338V |
probably benign |
Het |
| Psg28 |
G |
T |
7: 18,156,847 (GRCm39) |
L463I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,046,892 (GRCm39) |
D211G |
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,924,424 (GRCm39) |
H160R |
not run |
Het |
| Ranbp17 |
T |
C |
11: 33,279,511 (GRCm39) |
T582A |
probably damaging |
Het |
| Rasa1 |
G |
A |
13: 85,371,607 (GRCm39) |
T878I |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,802,163 (GRCm39) |
T224A |
probably benign |
Het |
| Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,072,744 (GRCm39) |
S531P |
probably benign |
Het |
| Sh3pxd2b |
TGCCTG |
TGCCTGCGCCTG |
11: 32,373,053 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,072,476 (GRCm39) |
L1291P |
probably damaging |
Het |
| Spmap2l |
CTCCCCAGTCCCGCAAGGCCAG |
CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG |
5: 77,164,255 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
C |
T |
2: 126,769,694 (GRCm39) |
R54Q |
probably benign |
Het |
| Sulf2 |
A |
T |
2: 165,924,523 (GRCm39) |
L521Q |
probably benign |
Het |
| Supv3l1 |
C |
A |
10: 62,273,287 (GRCm39) |
V317F |
possibly damaging |
Het |
| Tcof1 |
TCC |
TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,138 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,347 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,350 (GRCm39) |
|
probably benign |
Het |
| Usp38 |
A |
G |
8: 81,740,522 (GRCm39) |
S182P |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,781,174 (GRCm39) |
V460A |
probably benign |
Het |
| Wdr97 |
A |
T |
15: 76,240,172 (GRCm39) |
I331F |
|
Het |
| Zfp598 |
CAACCAC |
CAACCACAACCAC |
17: 24,899,745 (GRCm39) |
|
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 |
|
|
R2165:Nefh
|
UTSW |
11 |
4,893,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
4,891,022 (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 |
4,891,029 (GRCm39) |
frame shift |
probably null |
|
|
RF033:Nefh
|
UTSW |
11 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
|
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'- TCAGATGGTGACTTGGCCTC -3'
(R):5'- ATTGGCTTTGGTCCGAGTCC -3'
Sequencing Primer
(F):5'- CACCTGGAGACTTCACTGTAG -3'
(R):5'- TCTTACTGAAGGACTCCCAAAAATTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation