Incidental Mutation 'R0513:Zfyve26'
| ID |
48040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfyve26
|
| Ensembl Gene |
ENSMUSG00000066440 |
| Gene Name |
zinc finger, FYVE domain containing 26 |
| Synonyms |
A630028O16Rik, 9330197E15Rik, LOC380767 |
| MMRRC Submission |
038707-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0513 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
79279120-79343078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79291258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 2116
(D2116N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021547]
[ENSMUST00000218377]
|
| AlphaFold |
Q5DU37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021547
AA Change: D2116N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: D2116N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
752 |
775 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1073 |
1091 |
N/A |
INTRINSIC |
|
low complexity region
|
1104 |
1115 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1163 |
N/A |
INTRINSIC |
|
low complexity region
|
1177 |
1192 |
N/A |
INTRINSIC |
|
low complexity region
|
1228 |
1241 |
N/A |
INTRINSIC |
|
low complexity region
|
1565 |
1584 |
N/A |
INTRINSIC |
|
low complexity region
|
1743 |
1770 |
N/A |
INTRINSIC |
|
FYVE
|
1794 |
1863 |
1.49e-27 |
SMART |
|
low complexity region
|
2486 |
2498 |
N/A |
INTRINSIC |
|
low complexity region
|
2517 |
2528 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220390
|
| Meta Mutation Damage Score |
0.2180 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
99% (122/123) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygoys for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,195 (GRCm39) |
T146A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,192,984 (GRCm39) |
S121P |
possibly damaging |
Het |
| Actr2 |
T |
C |
11: 20,030,124 (GRCm39) |
T212A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,347,088 (GRCm39) |
D368E |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,725,786 (GRCm39) |
T333S |
probably benign |
Het |
| Anapc15 |
T |
C |
7: 101,547,747 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,256,678 (GRCm39) |
R67G |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,286,459 (GRCm39) |
D697G |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,005,766 (GRCm39) |
S755T |
probably benign |
Het |
| Atm |
A |
G |
9: 53,415,248 (GRCm39) |
V881A |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,809,948 (GRCm39) |
|
probably benign |
Het |
| Cfap20dc |
A |
C |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,877,215 (GRCm39) |
N491K |
possibly damaging |
Het |
| Chgb |
T |
C |
2: 132,627,897 (GRCm39) |
|
probably benign |
Het |
| Chrna1 |
C |
A |
2: 73,398,426 (GRCm39) |
|
probably benign |
Het |
| Chst10 |
A |
G |
1: 38,904,844 (GRCm39) |
L283P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,466,323 (GRCm39) |
|
probably null |
Het |
| Crppa |
A |
T |
12: 36,440,467 (GRCm39) |
H125L |
probably damaging |
Het |
| Cryzl1 |
G |
T |
16: 91,496,175 (GRCm39) |
A1E |
possibly damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,709,618 (GRCm39) |
Y213H |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,805,375 (GRCm39) |
Q2062R |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,835,348 (GRCm39) |
C310R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,755 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,085,684 (GRCm39) |
P486S |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,361 (GRCm39) |
L33P |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,164 (GRCm39) |
G856R |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,258,612 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
T |
1: 191,301,819 (GRCm39) |
Y79* |
probably null |
Het |
| Egfr |
T |
G |
11: 16,822,855 (GRCm39) |
L406R |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,800,695 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,310,621 (GRCm39) |
|
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,570 (GRCm39) |
E264G |
possibly damaging |
Het |
| Fscn2 |
G |
T |
11: 120,252,706 (GRCm39) |
V58L |
probably damaging |
Het |
| Gm17324 |
G |
A |
9: 78,356,007 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,425,086 (GRCm39) |
N357K |
probably benign |
Het |
| Gm9956 |
G |
T |
10: 56,621,291 (GRCm39) |
|
|
Het |
| Gsg1l |
C |
T |
7: 125,619,795 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
A |
9: 66,352,927 (GRCm39) |
V2138M |
possibly damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,764 (GRCm39) |
L448P |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,970,034 (GRCm39) |
S255L |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,859,384 (GRCm39) |
D271G |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,194,816 (GRCm39) |
L606H |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,252,906 (GRCm39) |
N53K |
probably damaging |
Het |
| Lsr |
G |
C |
7: 30,657,763 (GRCm39) |
A467G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,823,038 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,998,802 (GRCm39) |
Y337* |
probably null |
Het |
| Mlxipl |
A |
T |
5: 135,166,117 (GRCm39) |
Q833L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,515 (GRCm39) |
V278M |
probably damaging |
Het |
| Mxra8 |
A |
C |
4: 155,926,190 (GRCm39) |
M180L |
probably benign |
Het |
| Myo18a |
A |
T |
11: 77,702,420 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,556,657 (GRCm39) |
|
probably null |
Het |
| Myo1g |
T |
C |
11: 6,460,203 (GRCm39) |
T782A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,975,401 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,328,256 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,741,185 (GRCm39) |
K343R |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,531,584 (GRCm39) |
D733E |
possibly damaging |
Het |
| Nolc1 |
G |
A |
19: 46,072,598 (GRCm39) |
D699N |
probably damaging |
Het |
| Nrbp2 |
C |
T |
15: 75,960,825 (GRCm39) |
A45T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,952,348 (GRCm39) |
V3907A |
possibly damaging |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or2y6 |
T |
C |
11: 52,104,576 (GRCm39) |
Q80R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pank2 |
C |
T |
2: 131,124,526 (GRCm39) |
T290I |
probably damaging |
Het |
| Pbx4 |
T |
C |
8: 70,317,529 (GRCm39) |
V171A |
probably benign |
Het |
| Pcgf1 |
G |
T |
6: 83,057,555 (GRCm39) |
V75F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,660 (GRCm39) |
S778P |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,676,047 (GRCm39) |
I141M |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,914,864 (GRCm39) |
V2508E |
probably damaging |
Het |
| Prkca |
C |
G |
11: 107,905,202 (GRCm39) |
D179H |
possibly damaging |
Het |
| Pspn |
T |
C |
17: 57,306,720 (GRCm39) |
S70G |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,814,637 (GRCm39) |
T846I |
probably benign |
Het |
| Reg3g |
A |
C |
6: 78,444,827 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,704,139 (GRCm39) |
H2062Y |
probably benign |
Het |
| Rsph4a |
C |
T |
10: 33,788,987 (GRCm39) |
Q611* |
probably null |
Het |
| Scart1 |
C |
A |
7: 139,804,873 (GRCm39) |
C625* |
probably null |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,739 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
C |
6: 85,246,955 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,857,651 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,762 (GRCm39) |
I37V |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,503,906 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
C |
7: 15,891,264 (GRCm39) |
D768A |
probably damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,924,909 (GRCm39) |
|
noncoding transcript |
Het |
| Smurf2 |
T |
A |
11: 106,726,931 (GRCm39) |
T453S |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,532,927 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,351,509 (GRCm39) |
T205I |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,902 (GRCm39) |
I1316V |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,646,900 (GRCm39) |
R187G |
probably damaging |
Het |
| Tcea2 |
A |
C |
2: 181,326,274 (GRCm39) |
T93P |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,830 (GRCm39) |
M2311T |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,788,026 (GRCm39) |
Q260R |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,780,158 (GRCm39) |
H698L |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,700 (GRCm39) |
D215G |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,227,071 (GRCm39) |
I727N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,773,669 (GRCm39) |
K2271N |
probably damaging |
Het |
| Ubr2 |
T |
A |
17: 47,297,705 (GRCm39) |
K223* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,144,186 (GRCm39) |
M1410V |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,271 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,981,391 (GRCm39) |
H880L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,661,633 (GRCm39) |
C1686Y |
possibly damaging |
Het |
| Upf2 |
T |
A |
2: 5,962,478 (GRCm39) |
L60Q |
unknown |
Het |
| Usf2 |
A |
T |
7: 30,654,161 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,586 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,970 (GRCm39) |
K181* |
probably null |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,991 (GRCm39) |
S693T |
possibly damaging |
Het |
| Vmn2r76 |
C |
A |
7: 85,877,987 (GRCm39) |
G470V |
probably benign |
Het |
| Vps13c |
A |
C |
9: 67,838,017 (GRCm39) |
I1856L |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,520,210 (GRCm39) |
L119F |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,038,655 (GRCm39) |
S2012C |
probably damaging |
Het |
| Zfp1008 |
A |
C |
13: 62,753,029 (GRCm39) |
V99G |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,714 (GRCm39) |
V924A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,644 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfp39 |
C |
T |
11: 58,780,813 (GRCm39) |
V650I |
probably benign |
Het |
| Zfp82 |
A |
T |
7: 29,756,265 (GRCm39) |
N272K |
probably damaging |
Het |
| Zfyve21 |
A |
C |
12: 111,789,698 (GRCm39) |
D54A |
possibly damaging |
Het |
|
| Other mutations in Zfyve26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Zfyve26
|
APN |
12 |
79,296,234 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00940:Zfyve26
|
APN |
12 |
79,327,674 (GRCm39) |
missense |
probably benign |
|
|
IGL01148:Zfyve26
|
APN |
12 |
79,307,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01347:Zfyve26
|
APN |
12 |
79,298,957 (GRCm39) |
splice site |
probably null |
|
|
IGL01472:Zfyve26
|
APN |
12 |
79,323,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01490:Zfyve26
|
APN |
12 |
79,291,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Zfyve26
|
APN |
12 |
79,334,625 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01642:Zfyve26
|
APN |
12 |
79,308,348 (GRCm39) |
splice site |
probably null |
|
|
IGL01689:Zfyve26
|
APN |
12 |
79,330,827 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01877:Zfyve26
|
APN |
12 |
79,334,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01997:Zfyve26
|
APN |
12 |
79,291,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02077:Zfyve26
|
APN |
12 |
79,323,169 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02437:Zfyve26
|
APN |
12 |
79,315,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02933:Zfyve26
|
APN |
12 |
79,326,854 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02937:Zfyve26
|
APN |
12 |
79,285,794 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02982:Zfyve26
|
APN |
12 |
79,310,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03064:Zfyve26
|
APN |
12 |
79,308,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03086:Zfyve26
|
APN |
12 |
79,342,338 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03146:Zfyve26
|
APN |
12 |
79,330,846 (GRCm39) |
nonsense |
probably null |
|
|
challenge
|
UTSW |
12 |
79,317,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
fourteener
|
UTSW |
12 |
79,302,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Zfyve26
|
UTSW |
12 |
79,320,084 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0318:Zfyve26
|
UTSW |
12 |
79,323,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0582:Zfyve26
|
UTSW |
12 |
79,292,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Zfyve26
|
UTSW |
12 |
79,315,502 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0718:Zfyve26
|
UTSW |
12 |
79,312,576 (GRCm39) |
splice site |
probably benign |
|
|
R0738:Zfyve26
|
UTSW |
12 |
79,342,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Zfyve26
|
UTSW |
12 |
79,326,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0894:Zfyve26
|
UTSW |
12 |
79,320,372 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1109:Zfyve26
|
UTSW |
12 |
79,318,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Zfyve26
|
UTSW |
12 |
79,326,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1186:Zfyve26
|
UTSW |
12 |
79,310,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Zfyve26
|
UTSW |
12 |
79,321,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Zfyve26
|
UTSW |
12 |
79,329,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1439:Zfyve26
|
UTSW |
12 |
79,298,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1517:Zfyve26
|
UTSW |
12 |
79,298,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1553:Zfyve26
|
UTSW |
12 |
79,334,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1721:Zfyve26
|
UTSW |
12 |
79,308,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1758:Zfyve26
|
UTSW |
12 |
79,285,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Zfyve26
|
UTSW |
12 |
79,325,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Zfyve26
|
UTSW |
12 |
79,315,208 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1786:Zfyve26
|
UTSW |
12 |
79,315,208 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1826:Zfyve26
|
UTSW |
12 |
79,315,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Zfyve26
|
UTSW |
12 |
79,333,032 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1868:Zfyve26
|
UTSW |
12 |
79,308,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1900:Zfyve26
|
UTSW |
12 |
79,311,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Zfyve26
|
UTSW |
12 |
79,286,744 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Zfyve26
|
UTSW |
12 |
79,302,017 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2062:Zfyve26
|
UTSW |
12 |
79,330,806 (GRCm39) |
splice site |
probably null |
|
|
R2071:Zfyve26
|
UTSW |
12 |
79,334,220 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2130:Zfyve26
|
UTSW |
12 |
79,315,208 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2132:Zfyve26
|
UTSW |
12 |
79,315,208 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2133:Zfyve26
|
UTSW |
12 |
79,315,208 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2135:Zfyve26
|
UTSW |
12 |
79,292,826 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2207:Zfyve26
|
UTSW |
12 |
79,292,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2280:Zfyve26
|
UTSW |
12 |
79,321,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2352:Zfyve26
|
UTSW |
12 |
79,330,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2398:Zfyve26
|
UTSW |
12 |
79,329,573 (GRCm39) |
splice site |
probably null |
|
|
R3084:Zfyve26
|
UTSW |
12 |
79,312,457 (GRCm39) |
splice site |
probably benign |
|
|
R3086:Zfyve26
|
UTSW |
12 |
79,312,457 (GRCm39) |
splice site |
probably benign |
|
|
R4626:Zfyve26
|
UTSW |
12 |
79,315,844 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4727:Zfyve26
|
UTSW |
12 |
79,291,170 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4908:Zfyve26
|
UTSW |
12 |
79,296,469 (GRCm39) |
splice site |
probably null |
|
|
R4926:Zfyve26
|
UTSW |
12 |
79,321,785 (GRCm39) |
missense |
probably benign |
|
|
R4990:Zfyve26
|
UTSW |
12 |
79,334,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Zfyve26
|
UTSW |
12 |
79,327,159 (GRCm39) |
nonsense |
probably null |
|
|
R5029:Zfyve26
|
UTSW |
12 |
79,333,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Zfyve26
|
UTSW |
12 |
79,302,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Zfyve26
|
UTSW |
12 |
79,326,832 (GRCm39) |
nonsense |
probably null |
|
|
R5252:Zfyve26
|
UTSW |
12 |
79,315,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Zfyve26
|
UTSW |
12 |
79,317,624 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5509:Zfyve26
|
UTSW |
12 |
79,293,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Zfyve26
|
UTSW |
12 |
79,286,698 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5735:Zfyve26
|
UTSW |
12 |
79,320,147 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5756:Zfyve26
|
UTSW |
12 |
79,311,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Zfyve26
|
UTSW |
12 |
79,334,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5834:Zfyve26
|
UTSW |
12 |
79,313,311 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6075:Zfyve26
|
UTSW |
12 |
79,340,628 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6184:Zfyve26
|
UTSW |
12 |
79,315,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6235:Zfyve26
|
UTSW |
12 |
79,296,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Zfyve26
|
UTSW |
12 |
79,329,758 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6320:Zfyve26
|
UTSW |
12 |
79,286,776 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6548:Zfyve26
|
UTSW |
12 |
79,285,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Zfyve26
|
UTSW |
12 |
79,313,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7133:Zfyve26
|
UTSW |
12 |
79,330,926 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7152:Zfyve26
|
UTSW |
12 |
79,325,888 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7165:Zfyve26
|
UTSW |
12 |
79,327,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Zfyve26
|
UTSW |
12 |
79,315,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7223:Zfyve26
|
UTSW |
12 |
79,292,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7296:Zfyve26
|
UTSW |
12 |
79,325,146 (GRCm39) |
splice site |
probably null |
|
|
R7299:Zfyve26
|
UTSW |
12 |
79,329,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7301:Zfyve26
|
UTSW |
12 |
79,329,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7302:Zfyve26
|
UTSW |
12 |
79,297,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Zfyve26
|
UTSW |
12 |
79,286,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Zfyve26
|
UTSW |
12 |
79,334,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Zfyve26
|
UTSW |
12 |
79,315,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Zfyve26
|
UTSW |
12 |
79,337,731 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7762:Zfyve26
|
UTSW |
12 |
79,315,409 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7806:Zfyve26
|
UTSW |
12 |
79,327,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7821:Zfyve26
|
UTSW |
12 |
79,302,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Zfyve26
|
UTSW |
12 |
79,315,331 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8190:Zfyve26
|
UTSW |
12 |
79,327,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8207:Zfyve26
|
UTSW |
12 |
79,307,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Zfyve26
|
UTSW |
12 |
79,302,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8500:Zfyve26
|
UTSW |
12 |
79,334,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8686:Zfyve26
|
UTSW |
12 |
79,334,227 (GRCm39) |
missense |
probably benign |
|
|
R8758:Zfyve26
|
UTSW |
12 |
79,311,083 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8826:Zfyve26
|
UTSW |
12 |
79,285,742 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8877:Zfyve26
|
UTSW |
12 |
79,334,152 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9067:Zfyve26
|
UTSW |
12 |
79,318,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9195:Zfyve26
|
UTSW |
12 |
79,311,168 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9269:Zfyve26
|
UTSW |
12 |
79,323,076 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9273:Zfyve26
|
UTSW |
12 |
79,317,610 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9340:Zfyve26
|
UTSW |
12 |
79,321,680 (GRCm39) |
nonsense |
probably null |
|
|
R9348:Zfyve26
|
UTSW |
12 |
79,315,231 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9482:Zfyve26
|
UTSW |
12 |
79,291,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Zfyve26
|
UTSW |
12 |
79,298,046 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9653:Zfyve26
|
UTSW |
12 |
79,334,418 (GRCm39) |
missense |
probably benign |
|
|
R9676:Zfyve26
|
UTSW |
12 |
79,330,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9797:Zfyve26
|
UTSW |
12 |
79,293,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF010:Zfyve26
|
UTSW |
12 |
79,302,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Zfyve26
|
UTSW |
12 |
79,285,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfyve26
|
UTSW |
12 |
79,315,307 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1177:Zfyve26
|
UTSW |
12 |
79,334,149 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTCCGCTGGAAATGATCTCAC -3'
(R):5'- TCGAGCAGCCATGTTTCACACTG -3'
Sequencing Primer
(F):5'- CTCACAGTGGGACACTGAGTTAC -3'
(R):5'- GTGGCTATGGAGCAAAGGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation