Incidental Mutation 'R1469:Nefh'
| ID |
164773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
039522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1469 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4890066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 851
(I851N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093369
AA Change: I851N
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: I851N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 95.3%
- 10x: 69.3%
- 20x: 30.3%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,039,526 (GRCm39) |
V261E |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,981,720 (GRCm39) |
E1058G |
probably benign |
Het |
| Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
| Actn4 |
A |
G |
7: 28,604,753 (GRCm39) |
V348A |
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,664 (GRCm39) |
L314H |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,504,460 (GRCm39) |
M402T |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,263,180 (GRCm39) |
Q265R |
probably benign |
Het |
| Atp2b4 |
G |
A |
1: 133,634,677 (GRCm39) |
R1124C |
probably damaging |
Het |
| Atp2c1 |
A |
T |
9: 105,312,351 (GRCm39) |
C353* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,291,733 (GRCm39) |
|
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,833 (GRCm39) |
Y761N |
probably damaging |
Het |
| Bend6 |
A |
G |
1: 33,903,824 (GRCm39) |
V38A |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,044,399 (GRCm39) |
E5G |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,527,152 (GRCm39) |
H352Q |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,324 (GRCm39) |
V641A |
possibly damaging |
Het |
| Celsr2 |
C |
A |
3: 108,321,424 (GRCm39) |
D463Y |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,885,314 (GRCm39) |
Y434H |
probably damaging |
Het |
| Cnih2 |
T |
C |
19: 5,143,730 (GRCm39) |
Y142C |
probably damaging |
Het |
| Coa5 |
T |
A |
1: 37,459,681 (GRCm39) |
R71* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,532,598 (GRCm39) |
Y2532* |
probably null |
Het |
| Cytl1 |
A |
T |
5: 37,892,991 (GRCm39) |
M34L |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,169,871 (GRCm39) |
I590N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,561,847 (GRCm39) |
H889R |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,490,275 (GRCm39) |
I1948T |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,832,908 (GRCm39) |
N1034K |
probably benign |
Het |
| Dzip1l |
G |
A |
9: 99,541,829 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
T |
A |
16: 20,498,758 (GRCm39) |
V439E |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,825,082 (GRCm39) |
I712V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,950,970 (GRCm39) |
T537I |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,473,857 (GRCm39) |
G300D |
probably damaging |
Het |
| Erbb4 |
A |
C |
1: 68,599,841 (GRCm39) |
S79A |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,688,419 (GRCm39) |
V205A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,673 (GRCm39) |
|
probably null |
Het |
| Gm11564 |
C |
T |
11: 99,706,058 (GRCm39) |
C124Y |
unknown |
Het |
| Gm16494 |
T |
C |
17: 47,327,770 (GRCm39) |
E38G |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,454,549 (GRCm39) |
|
probably null |
Het |
| Gtsf2 |
G |
T |
15: 103,349,644 (GRCm39) |
R68S |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,115,813 (GRCm39) |
Q881R |
probably damaging |
Het |
| Hmox1 |
C |
A |
8: 75,825,463 (GRCm39) |
L236I |
probably benign |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,963 (GRCm39) |
I7V |
probably benign |
Het |
| Izumo1 |
T |
C |
7: 45,272,437 (GRCm39) |
S73P |
probably damaging |
Het |
| Kifbp |
A |
T |
10: 62,395,229 (GRCm39) |
F471Y |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,827 (GRCm39) |
N1176S |
possibly damaging |
Het |
| Mecom |
A |
T |
3: 30,034,197 (GRCm39) |
L493Q |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,016 (GRCm39) |
V1240A |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,954,201 (GRCm39) |
S302P |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,956 (GRCm39) |
T2390A |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,560,787 (GRCm39) |
S766P |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,743,680 (GRCm39) |
Q247R |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,596,369 (GRCm39) |
T1423I |
probably damaging |
Het |
| Nup98 |
T |
C |
7: 101,788,008 (GRCm39) |
T1004A |
probably benign |
Het |
| Or1e17 |
T |
C |
11: 73,831,383 (GRCm39) |
F104L |
probably benign |
Het |
| Or1e22 |
G |
A |
11: 73,377,149 (GRCm39) |
S167L |
possibly damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,973 (GRCm39) |
T33I |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,122,411 (GRCm39) |
T249A |
probably benign |
Het |
| Osgin1 |
G |
T |
8: 120,172,124 (GRCm39) |
R306L |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,537,571 (GRCm39) |
L1246P |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,952,019 (GRCm39) |
N273K |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,585 (GRCm39) |
S1374P |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,400,282 (GRCm39) |
V2142A |
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,512,170 (GRCm39) |
E1318G |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,883,199 (GRCm39) |
I756V |
probably benign |
Het |
| Primpol |
A |
G |
8: 47,046,672 (GRCm39) |
V208A |
probably benign |
Het |
| Ptch2 |
C |
A |
4: 116,965,662 (GRCm39) |
A389E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,489,319 (GRCm39) |
Y431H |
probably benign |
Het |
| Rnf43 |
G |
A |
11: 87,622,233 (GRCm39) |
G445R |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,362,727 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Shisa9 |
T |
A |
16: 11,802,935 (GRCm39) |
M164K |
probably damaging |
Het |
| Skint1 |
A |
G |
4: 111,882,708 (GRCm39) |
I251V |
probably benign |
Het |
| Slc16a14 |
C |
T |
1: 84,907,182 (GRCm39) |
D31N |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,022,361 (GRCm39) |
S548G |
possibly damaging |
Het |
| Slc4a9 |
T |
C |
18: 36,664,154 (GRCm39) |
F316L |
probably benign |
Het |
| Smchd1 |
C |
T |
17: 71,656,725 (GRCm39) |
R1914H |
probably damaging |
Het |
| Snx16 |
C |
T |
3: 10,499,431 (GRCm39) |
D200N |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,404,934 (GRCm39) |
D34G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,916 (GRCm39) |
C4154R |
probably damaging |
Het |
| Sytl3 |
C |
T |
17: 6,954,723 (GRCm39) |
A131V |
probably benign |
Het |
| Tacc1 |
T |
A |
8: 25,672,271 (GRCm39) |
D319V |
probably benign |
Het |
| Tead1 |
A |
T |
7: 112,475,391 (GRCm39) |
K234I |
probably damaging |
Het |
| Tgfbrap1 |
C |
T |
1: 43,114,618 (GRCm39) |
V161I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,884,017 (GRCm39) |
V121A |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Trappc11 |
G |
A |
8: 47,957,000 (GRCm39) |
L809F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,601,869 (GRCm39) |
I18598V |
probably benign |
Het |
| Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,144,232 (GRCm39) |
N186D |
probably damaging |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,784 (GRCm39) |
G252V |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,564,992 (GRCm39) |
I293T |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,991,694 (GRCm39) |
T556A |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,997,529 (GRCm39) |
Y1029N |
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,808,894 (GRCm39) |
K989M |
possibly damaging |
Het |
| Zfpm1 |
C |
T |
8: 123,062,585 (GRCm39) |
T548M |
probably damaging |
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 |
|
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 |
4,891,023 (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 |
4,891,039 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Nefh
|
UTSW |
11 |
4,891,029 (GRCm39) |
frame shift |
probably null |
|
|
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'- TTCACACCCAACTTGGCAGGAG -3'
(R):5'- CCGTGAAGGAAGATATCAAGCCCC -3'
Sequencing Primer
(F):5'- AACTTGGCAGGAGTCTCCTC -3'
(R):5'- CTAGATGTGAAGTCTCCGGAAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation