Incidental Mutation 'R0383:Hps5'
| ID |
31082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hps5
|
| Ensembl Gene |
ENSMUSG00000014418 |
| Gene Name |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
| Synonyms |
Hermansky-Pudlak syndrome 5, ru-2, ru2, ruby eye 2 |
| MMRRC Submission |
038589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46409890-46445488 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 46418712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014562]
[ENSMUST00000107653]
[ENSMUST00000107653]
[ENSMUST00000107654]
[ENSMUST00000107654]
[ENSMUST00000142663]
[ENSMUST00000211347]
|
| AlphaFold |
P59438 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014562
|
| SMART Domains |
Protein: ENSMUSP00000014562
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
|
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107653
|
| SMART Domains |
Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
6e-21 |
BLAST |
|
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
|
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107653
|
| SMART Domains |
Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
6e-21 |
BLAST |
|
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
|
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
|
low complexity region
|
956 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107654
|
| SMART Domains |
Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
|
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107654
|
| SMART Domains |
Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
|
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130365
|
| SMART Domains |
Protein: ENSMUSP00000114384
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130365
|
| SMART Domains |
Protein: ENSMUSP00000114384
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142663
|
| SMART Domains |
Protein: ENSMUSP00000122887
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjub_
|
44 |
192 |
8e-8 |
SMART |
|
Blast:WD40
|
63 |
103 |
9e-20 |
BLAST |
|
Blast:WD40
|
111 |
151 |
2e-19 |
BLAST |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143627
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153789
|
| SMART Domains |
Protein: ENSMUSP00000119876
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153789
|
| SMART Domains |
Protein: ENSMUSP00000119876
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211571
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
T |
11: 80,254,767 (GRCm39) |
Y351* |
probably null |
Het |
| Aadac |
G |
T |
3: 59,943,368 (GRCm39) |
R91L |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,370 (GRCm39) |
F621Y |
probably damaging |
Het |
| Ankmy1 |
G |
T |
1: 92,812,775 (GRCm39) |
D511E |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,782,097 (GRCm39) |
D376V |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,100,400 (GRCm39) |
C399F |
probably benign |
Het |
| Arfgef1 |
C |
T |
1: 10,269,067 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,849,614 (GRCm39) |
V546M |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,765,020 (GRCm39) |
V98E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,651,856 (GRCm39) |
N108D |
probably damaging |
Het |
| Car15 |
C |
A |
16: 17,654,617 (GRCm39) |
E134* |
probably null |
Het |
| Ccdc80 |
T |
G |
16: 44,915,732 (GRCm39) |
Y163D |
probably damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,841,268 (GRCm39) |
M537V |
probably benign |
Het |
| Col22a1 |
C |
T |
15: 71,740,853 (GRCm39) |
G513D |
unknown |
Het |
| Col8a1 |
T |
C |
16: 57,452,805 (GRCm39) |
D66G |
probably damaging |
Het |
| Crot |
C |
A |
5: 9,018,734 (GRCm39) |
S544I |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,435,770 (GRCm39) |
P1062Q |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,553,334 (GRCm39) |
V774E |
probably damaging |
Het |
| Dlgap5 |
T |
A |
14: 47,647,818 (GRCm39) |
M240L |
probably benign |
Het |
| Dlx4 |
A |
G |
11: 95,036,261 (GRCm39) |
V16A |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,958,373 (GRCm39) |
H2703Q |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,122,291 (GRCm39) |
|
probably null |
Het |
| Fn1 |
C |
T |
1: 71,636,844 (GRCm39) |
V168I |
probably damaging |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,359 (GRCm39) |
D122V |
probably damaging |
Het |
| Gas2l2 |
A |
T |
11: 83,313,923 (GRCm39) |
I463N |
probably benign |
Het |
| Ggta1 |
G |
T |
2: 35,292,416 (GRCm39) |
P297Q |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,457 (GRCm39) |
R231S |
probably damaging |
Het |
| Gpc1 |
T |
C |
1: 92,782,705 (GRCm39) |
Y151H |
probably damaging |
Het |
| Gpr141b |
A |
G |
13: 19,913,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,245,973 (GRCm39) |
W119R |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,253 (GRCm39) |
I304V |
probably benign |
Het |
| Helq |
T |
C |
5: 100,927,031 (GRCm39) |
K685R |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,885,818 (GRCm39) |
C1186R |
probably damaging |
Het |
| Ift43 |
T |
C |
12: 86,208,795 (GRCm39) |
V158A |
possibly damaging |
Het |
| Ift70b |
A |
G |
2: 75,768,586 (GRCm39) |
Y56H |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,070,429 (GRCm39) |
I141N |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,149 (GRCm39) |
N1276S |
probably benign |
Het |
| Kif19a |
A |
T |
11: 114,656,340 (GRCm39) |
M1L |
possibly damaging |
Het |
| Kif1b |
T |
G |
4: 149,286,969 (GRCm39) |
H1241P |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,144,510 (GRCm39) |
V1588A |
possibly damaging |
Het |
| Klb |
T |
A |
5: 65,529,842 (GRCm39) |
|
probably null |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,131 (GRCm39) |
Y163* |
probably null |
Het |
| Lefty1 |
G |
T |
1: 180,765,199 (GRCm39) |
E256* |
probably null |
Het |
| Lox |
T |
C |
18: 52,662,271 (GRCm39) |
N44S |
possibly damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,949,663 (GRCm39) |
Y565C |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,349,783 (GRCm39) |
A961V |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,253,619 (GRCm39) |
K496R |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,744,971 (GRCm39) |
H352Q |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,851,310 (GRCm39) |
I188V |
possibly damaging |
Het |
| Notum |
G |
T |
11: 120,545,282 (GRCm39) |
H426N |
probably benign |
Het |
| Or52r1 |
T |
A |
7: 102,536,458 (GRCm39) |
I301F |
possibly damaging |
Het |
| Orm2 |
A |
T |
4: 63,282,233 (GRCm39) |
D137V |
probably damaging |
Het |
| Pabpc2 |
G |
A |
18: 39,908,448 (GRCm39) |
G571D |
probably damaging |
Het |
| Pabpc4 |
A |
G |
4: 123,191,735 (GRCm39) |
N599S |
probably damaging |
Het |
| Pak1ip1 |
T |
C |
13: 41,166,080 (GRCm39) |
V335A |
probably benign |
Het |
| Pcdhb11 |
A |
C |
18: 37,556,446 (GRCm39) |
D592A |
probably damaging |
Het |
| Pmch |
C |
A |
10: 87,927,120 (GRCm39) |
T41K |
possibly damaging |
Het |
| Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
| Pter |
G |
T |
2: 13,005,753 (GRCm39) |
G309* |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,219,024 (GRCm38) |
V406A |
possibly damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,184 (GRCm39) |
E467V |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,975,153 (GRCm39) |
M354K |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,549,312 (GRCm39) |
C248Y |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,253,914 (GRCm39) |
W617R |
probably damaging |
Het |
| Smyd5 |
C |
T |
6: 85,417,155 (GRCm39) |
Q178* |
probably null |
Het |
| St18 |
T |
A |
1: 6,873,248 (GRCm39) |
F328I |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,610,570 (GRCm39) |
L124* |
probably null |
Het |
| Tarbp1 |
T |
A |
8: 127,174,223 (GRCm39) |
H861L |
probably benign |
Het |
| Tars1 |
A |
G |
15: 11,390,411 (GRCm39) |
M356T |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,162,819 (GRCm39) |
T221A |
probably damaging |
Het |
| Tead3 |
A |
G |
17: 28,553,672 (GRCm39) |
|
probably null |
Het |
| Tprg1 |
A |
G |
16: 25,240,985 (GRCm39) |
T254A |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,220,545 (GRCm39) |
N2427K |
probably benign |
Het |
| Tufm |
T |
C |
7: 126,089,036 (GRCm39) |
S380P |
probably damaging |
Het |
| Tyrobp |
C |
T |
7: 30,114,042 (GRCm39) |
R68C |
probably damaging |
Het |
| Ubl4b |
T |
C |
3: 107,462,143 (GRCm39) |
E39G |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,286,863 (GRCm39) |
F661I |
probably damaging |
Het |
| Upf3b |
A |
G |
X: 36,368,120 (GRCm39) |
I144T |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,320 (GRCm39) |
D1165E |
probably benign |
Het |
| Vmn2r81 |
C |
T |
10: 79,129,281 (GRCm39) |
T724I |
possibly damaging |
Het |
| Vsig1 |
A |
G |
X: 139,837,062 (GRCm39) |
I247M |
possibly damaging |
Het |
| Zfp110 |
C |
A |
7: 12,583,187 (GRCm39) |
L612I |
probably benign |
Het |
| Zfp318 |
C |
A |
17: 46,724,222 (GRCm39) |
T2075K |
probably damaging |
Het |
| Zfp37 |
A |
G |
4: 62,110,122 (GRCm39) |
M1T |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,720 (GRCm39) |
C613S |
probably damaging |
Het |
| Zfp729a |
G |
A |
13: 67,769,792 (GRCm39) |
P146S |
possibly damaging |
Het |
| Zfp85 |
T |
C |
13: 67,896,791 (GRCm39) |
N427S |
probably benign |
Het |
|
| Other mutations in Hps5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Hps5
|
APN |
7 |
46,425,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00543:Hps5
|
APN |
7 |
46,427,497 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01090:Hps5
|
APN |
7 |
46,437,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01351:Hps5
|
APN |
7 |
46,410,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01479:Hps5
|
APN |
7 |
46,412,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02056:Hps5
|
APN |
7 |
46,437,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02117:Hps5
|
APN |
7 |
46,432,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Hps5
|
APN |
7 |
46,435,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02967:Hps5
|
APN |
7 |
46,418,804 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03046:Hps5
|
APN |
7 |
46,426,463 (GRCm39) |
splice site |
probably benign |
|
|
IGL03187:Hps5
|
APN |
7 |
46,422,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03259:Hps5
|
APN |
7 |
46,412,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
dorian_gray
|
UTSW |
7 |
46,784,145 (GRCm38) |
unclassified |
probably benign |
|
|
smoky
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
|
Titan
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
toffee
|
UTSW |
7 |
46,777,075 (GRCm38) |
intron |
probably benign |
|
|
wombat
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
|
R0141:Hps5
|
UTSW |
7 |
46,438,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Hps5
|
UTSW |
7 |
46,440,333 (GRCm39) |
splice site |
probably benign |
|
|
R0684:Hps5
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1159:Hps5
|
UTSW |
7 |
46,421,978 (GRCm39) |
splice site |
probably null |
|
|
R1938:Hps5
|
UTSW |
7 |
46,422,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Hps5
|
UTSW |
7 |
46,417,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3613:Hps5
|
UTSW |
7 |
46,426,298 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3881:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3882:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3914:Hps5
|
UTSW |
7 |
46,432,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4095:Hps5
|
UTSW |
7 |
46,425,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4457:Hps5
|
UTSW |
7 |
46,433,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4739:Hps5
|
UTSW |
7 |
46,436,013 (GRCm39) |
missense |
probably benign |
|
|
R4838:Hps5
|
UTSW |
7 |
46,437,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Hps5
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
|
R5876:Hps5
|
UTSW |
7 |
46,438,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Hps5
|
UTSW |
7 |
46,416,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6129:Hps5
|
UTSW |
7 |
46,421,198 (GRCm39) |
missense |
probably benign |
|
|
R6878:Hps5
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7912:Hps5
|
UTSW |
7 |
46,418,826 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7977:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7987:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8131:Hps5
|
UTSW |
7 |
46,421,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8243:Hps5
|
UTSW |
7 |
46,436,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Hps5
|
UTSW |
7 |
46,418,485 (GRCm39) |
nonsense |
probably null |
|
|
R8878:Hps5
|
UTSW |
7 |
46,421,345 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9050:Hps5
|
UTSW |
7 |
46,422,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9186:Hps5
|
UTSW |
7 |
46,438,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:Hps5
|
UTSW |
7 |
46,440,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Hps5
|
UTSW |
7 |
46,424,331 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9303:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9305:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9650:Hps5
|
UTSW |
7 |
46,425,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Hps5
|
UTSW |
7 |
46,412,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATGCAAGCTCGAAGGGCTGAC -3'
(R):5'- CATGGGTATTTGCAGCGAGGTGAC -3'
Sequencing Primer
(F):5'- GGGCTGACTCCCCAAATCTATC -3'
(R):5'- CGGGAAAGGCTATGCTTTACC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation