Incidental Mutation 'R9616:Nefh'
| ID |
724598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nefh
|
| Ensembl Gene |
ENSMUSG00000020396 |
| Gene Name |
neurofilament, heavy polypeptide |
| Synonyms |
NF200, NF-H, NEFH |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
4888754-4898064 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4889443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1059
(K1059*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093369]
|
| AlphaFold |
P19246 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093369
AA Change: K1059*
|
| SMART Domains |
Protein: ENSMUSP00000091061
Gene: ENSMUSG00000020396
AA Change: K1059*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040M04Rik |
T |
A |
1: 151,080,480 (GRCm39) |
D189E |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,240,501 (GRCm39) |
H788L |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,862,779 (GRCm39) |
I154V |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,872 (GRCm39) |
N81S |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,659,674 (GRCm39) |
H873Y |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,268,020 (GRCm39) |
T200I |
possibly damaging |
Het |
| Arhgap33 |
A |
G |
7: 30,229,367 (GRCm39) |
V336A |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,416,683 (GRCm39) |
E484K |
probably damaging |
Het |
| Capn13 |
T |
A |
17: 73,672,964 (GRCm39) |
D113V |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,892,078 (GRCm39) |
E274K |
|
Het |
| Cfh |
A |
T |
1: 140,030,254 (GRCm39) |
I891K |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,670,332 (GRCm39) |
S1041P |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,580,915 (GRCm39) |
D111G |
probably benign |
Het |
| Cnp |
G |
A |
11: 100,467,261 (GRCm39) |
R68Q |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,674,525 (GRCm39) |
C1008* |
probably null |
Het |
| Cntnap5a |
T |
C |
1: 116,029,323 (GRCm39) |
I259T |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,319,529 (GRCm39) |
I2897T |
probably benign |
Het |
| Cyp2c39 |
T |
A |
19: 39,501,648 (GRCm39) |
L67Q |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ddc |
C |
T |
11: 11,772,288 (GRCm39) |
W349* |
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,440,563 (GRCm39) |
E1198G |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,026,400 (GRCm39) |
D826G |
probably null |
Het |
| Dpp4 |
T |
C |
2: 62,217,429 (GRCm39) |
Y56C |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,295 (GRCm39) |
D350G |
possibly damaging |
Het |
| Fat1 |
C |
A |
8: 45,406,075 (GRCm39) |
P942Q |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,916,159 (GRCm39) |
F418L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,316,098 (GRCm39) |
H368L |
|
Het |
| Fhl2 |
G |
T |
1: 43,167,546 (GRCm39) |
H182Q |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,649,461 (GRCm39) |
C223S |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,356,326 (GRCm39) |
I803T |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,790,038 (GRCm39) |
N3K |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,684,473 (GRCm39) |
S366R |
probably benign |
Het |
| Il17b |
A |
G |
18: 61,825,363 (GRCm39) |
Q133R |
probably benign |
Het |
| Inha |
T |
A |
1: 75,486,211 (GRCm39) |
S169T |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,650,055 (GRCm39) |
R243H |
probably benign |
Het |
| Kcnu1 |
G |
GA |
8: 26,403,675 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
A |
G |
13: 47,234,030 (GRCm39) |
E788G |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,308 (GRCm39) |
I1059N |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,795 (GRCm39) |
G100C |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,994 (GRCm39) |
V565A |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,907,425 (GRCm39) |
N1650Y |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,719 (GRCm39) |
V270A |
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,517 (GRCm39) |
L274P |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,643,255 (GRCm39) |
L885F |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,294,361 (GRCm39) |
L31* |
probably null |
Het |
| Ms4a10 |
T |
C |
19: 10,944,440 (GRCm39) |
T115A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,923,263 (GRCm39) |
I1330T |
possibly damaging |
Het |
| Ncam2 |
T |
C |
16: 81,240,142 (GRCm39) |
I201T |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,473,107 (GRCm39) |
Y168H |
probably damaging |
Het |
| Nek11 |
T |
A |
9: 105,082,011 (GRCm39) |
T531S |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,127 (GRCm39) |
P243S |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,193 (GRCm39) |
Y32H |
probably damaging |
Het |
| Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
| Or13c7d |
T |
A |
4: 43,770,193 (GRCm39) |
K273* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,986,520 (GRCm39) |
Y134* |
probably null |
Het |
| Or9i16 |
A |
G |
19: 13,864,861 (GRCm39) |
S238P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,539,708 (GRCm39) |
I1035T |
possibly damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Per1 |
G |
T |
11: 68,993,554 (GRCm39) |
C368F |
probably damaging |
Het |
| Pitrm1 |
G |
T |
13: 6,605,602 (GRCm39) |
R183L |
probably damaging |
Het |
| Prl3a1 |
C |
T |
13: 27,459,118 (GRCm39) |
A119V |
|
Het |
| Pycard |
C |
T |
7: 127,592,776 (GRCm39) |
G17E |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,740,430 (GRCm39) |
D249G |
possibly damaging |
Het |
| Sdhaf2 |
T |
C |
19: 10,494,689 (GRCm39) |
Y33C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,691,061 (GRCm39) |
V1838A |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,274 (GRCm39) |
V853I |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,282,403 (GRCm39) |
T24A |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,407 (GRCm39) |
T544A |
probably benign |
Het |
| Sntg2 |
T |
C |
12: 30,326,732 (GRCm39) |
N143S |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,254,989 (GRCm39) |
E920G |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,252,828 (GRCm39) |
H132L |
|
Het |
| Srgap3 |
A |
T |
6: 112,748,524 (GRCm39) |
V376D |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,036,314 (GRCm39) |
K434E |
probably damaging |
Het |
| Tab2 |
A |
T |
10: 7,795,005 (GRCm39) |
N492K |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,037,246 (GRCm39) |
Q666R |
possibly damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,782 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
G |
A |
3: 154,667,724 (GRCm39) |
Q230* |
probably null |
Het |
| Trp53bp1 |
A |
C |
2: 121,066,657 (GRCm39) |
S690A |
probably benign |
Het |
| Trpa1 |
C |
A |
1: 14,989,077 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,858,132 (GRCm39) |
V324G |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,966,179 (GRCm39) |
E674G |
possibly damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,299 (GRCm39) |
R839G |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,724 (GRCm39) |
L667P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,305 (GRCm39) |
F657L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,824,701 (GRCm39) |
V2923A |
|
Het |
| Xylb |
T |
A |
9: 119,201,022 (GRCm39) |
L220Q |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,316,473 (GRCm39) |
T95M |
probably benign |
Het |
| Zfp263 |
C |
T |
16: 3,567,482 (GRCm39) |
P599L |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,789,639 (GRCm39) |
E1026G |
probably benign |
Het |
| Zfp78 |
A |
G |
7: 6,382,078 (GRCm39) |
N376S |
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 |
|
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'- TTTATTACGCCGACCCCTGAG -3'
(R):5'- CTGCCAAGTTGGGTGTGAAG -3'
Sequencing Primer
(F):5'- TGAGTACTGGGACCGTCCTGAG -3'
(R):5'- TGTGAAGGAAGAAGCTAAACCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation