Incidental Mutation 'R0149:Nefh'
| ID |
22736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
038433-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0149 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4890799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 607
(S607T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093369
AA Change: S607T
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: S607T
| 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 |
0.0967 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
97% (84/87) |
| 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 |
|---|
| A230072I06Rik |
A |
C |
8: 12,330,000 (GRCm39) |
S152R |
unknown |
Het |
| Acsbg2 |
A |
G |
17: 57,160,924 (GRCm39) |
|
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,369 (GRCm39) |
V581F |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,908,544 (GRCm39) |
I1165F |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,566,396 (GRCm39) |
K656E |
possibly damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,267 (GRCm39) |
I1773T |
probably damaging |
Het |
| Api5 |
A |
T |
2: 94,253,842 (GRCm39) |
L287* |
probably null |
Het |
| Ascc3 |
A |
T |
10: 50,484,089 (GRCm39) |
N55I |
probably benign |
Het |
| Cav1 |
C |
A |
6: 17,339,352 (GRCm39) |
R146S |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,820 (GRCm39) |
I1118F |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,613,218 (GRCm39) |
I660T |
probably benign |
Het |
| Clk1 |
T |
A |
1: 58,453,760 (GRCm39) |
N305Y |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,308,351 (GRCm39) |
I1263F |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,968 (GRCm39) |
L152P |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,182,571 (GRCm39) |
S188P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,388,327 (GRCm39) |
L202P |
probably damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,653,978 (GRCm39) |
Y1418* |
probably null |
Het |
| Efemp2 |
A |
T |
19: 5,527,988 (GRCm39) |
H107L |
probably damaging |
Het |
| Eng |
T |
C |
2: 32,562,397 (GRCm39) |
|
probably null |
Het |
| Erc1 |
A |
T |
6: 119,801,791 (GRCm39) |
S75R |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,783 (GRCm39) |
D375V |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,402,475 (GRCm39) |
I295M |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,849 (GRCm39) |
S723P |
possibly damaging |
Het |
| Gdpd5 |
A |
G |
7: 99,107,997 (GRCm39) |
I530V |
possibly damaging |
Het |
| Gm15217 |
T |
A |
14: 46,617,841 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,289 (GRCm39) |
T478A |
probably benign |
Het |
| Gmcl1 |
A |
T |
6: 86,709,891 (GRCm39) |
|
probably null |
Het |
| Has1 |
T |
C |
17: 18,070,433 (GRCm39) |
T163A |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,553,075 (GRCm39) |
N2538K |
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,973,115 (GRCm39) |
|
probably benign |
Het |
| Kcnip1 |
A |
T |
11: 33,793,177 (GRCm39) |
M5K |
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,903,562 (GRCm39) |
E329G |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,788,276 (GRCm39) |
|
probably benign |
Het |
| Klkb1 |
A |
G |
8: 45,729,100 (GRCm39) |
C375R |
probably damaging |
Het |
| Loxl2 |
C |
A |
14: 69,930,527 (GRCm39) |
H764N |
probably benign |
Het |
| Lrrc55 |
A |
T |
2: 85,026,589 (GRCm39) |
M145K |
probably damaging |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,985 (GRCm39) |
I439T |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,724,226 (GRCm39) |
I263N |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,896,692 (GRCm39) |
P641L |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,135,903 (GRCm39) |
N558K |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,742,294 (GRCm39) |
D98G |
probably damaging |
Het |
| Mgat5b |
A |
G |
11: 116,875,965 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,300,153 (GRCm39) |
V1627D |
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,522,352 (GRCm39) |
I36F |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,934,368 (GRCm39) |
N645I |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,147,262 (GRCm39) |
I94F |
probably damaging |
Het |
| Ngf |
T |
A |
3: 102,427,762 (GRCm39) |
H174Q |
probably benign |
Het |
| Noa1 |
G |
A |
5: 77,445,020 (GRCm39) |
Q600* |
probably null |
Het |
| Nr2f2 |
A |
G |
7: 70,007,810 (GRCm39) |
V71A |
possibly damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,466 (GRCm39) |
F492L |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,641 (GRCm39) |
Y94F |
probably benign |
Het |
| Or8g21 |
T |
A |
9: 38,905,880 (GRCm39) |
M284L |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,871,432 (GRCm39) |
|
probably null |
Het |
| P4ha1 |
A |
G |
10: 59,184,221 (GRCm39) |
T228A |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,966 (GRCm39) |
V195A |
possibly damaging |
Het |
| Plagl2 |
A |
T |
2: 153,073,523 (GRCm39) |
D459E |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,297,595 (GRCm39) |
E1863G |
probably null |
Het |
| Prdm10 |
T |
G |
9: 31,227,455 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
C |
5: 32,950,985 (GRCm39) |
L1936R |
probably damaging |
Het |
| Rgs1 |
T |
C |
1: 144,124,825 (GRCm39) |
|
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,669,510 (GRCm39) |
F292S |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,033,357 (GRCm39) |
T538A |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,813,588 (GRCm39) |
N1025D |
possibly damaging |
Het |
| Rsph10b |
T |
A |
5: 143,875,727 (GRCm39) |
|
probably benign |
Het |
| Rwdd4a |
A |
G |
8: 47,997,255 (GRCm39) |
D158G |
probably null |
Het |
| Sdk1 |
T |
C |
5: 141,842,809 (GRCm39) |
|
probably benign |
Het |
| Serpina3n |
A |
C |
12: 104,377,635 (GRCm39) |
K296T |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,938,203 (GRCm39) |
T239A |
probably benign |
Het |
| Snw1 |
A |
G |
12: 87,508,687 (GRCm39) |
V124A |
possibly damaging |
Het |
| Tas2r140 |
T |
G |
6: 40,468,232 (GRCm39) |
F21V |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,660,274 (GRCm39) |
L655F |
probably damaging |
Het |
| Tmem260 |
A |
T |
14: 48,689,504 (GRCm39) |
T108S |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,083 (GRCm39) |
Y406C |
probably damaging |
Het |
| Tsc1 |
T |
C |
2: 28,560,913 (GRCm39) |
I257T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,673,746 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,560,760 (GRCm39) |
N829K |
possibly damaging |
Het |
| Vmn1r235 |
A |
C |
17: 21,482,257 (GRCm39) |
D194A |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,509 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
G |
T |
12: 85,075,612 (GRCm39) |
R321L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,395,028 (GRCm39) |
T4381A |
unknown |
Het |
| Zfp457 |
A |
G |
13: 67,440,710 (GRCm39) |
F622L |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 726,121 (GRCm39) |
H548R |
possibly damaging |
Het |
| Zmym4 |
A |
T |
4: 126,804,938 (GRCm39) |
S441T |
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 |
|
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 |
4,891,023 (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'- CTTGGCCTCACCTGGTGACTTG -3'
(R):5'- AGGAGCAGCAGCTACATCTCCC -3'
Sequencing Primer
(F):5'- cacctggtgacttgacctc -3'
(R):5'- CAGAAGAGGCTGCATCTCCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation