Incidental Mutation 'R2207:Sorcs1'
| ID |
239203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sorcs1
|
| Ensembl Gene |
ENSMUSG00000043531 |
| Gene Name |
sortilin-related VPS10 domain containing receptor 1 |
| Synonyms |
|
| MMRRC Submission |
040209-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2207 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
50131737-50667084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50218655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 609
(H609R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072685]
[ENSMUST00000111756]
[ENSMUST00000164039]
[ENSMUST00000209413]
[ENSMUST00000209783]
[ENSMUST00000211008]
[ENSMUST00000211687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072685
AA Change: H609R
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000072472
Gene: ENSMUSG00000043531
AA Change: H609R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
113 |
N/A |
INTRINSIC |
|
VPS10
|
196 |
797 |
N/A |
SMART |
|
PKD
|
799 |
889 |
3.84e-1 |
SMART |
|
PKD
|
897 |
975 |
8.63e-1 |
SMART |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111756
AA Change: H609R
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107386
Gene: ENSMUSG00000043531
AA Change: H609R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
113 |
N/A |
INTRINSIC |
|
VPS10
|
196 |
797 |
N/A |
SMART |
|
PKD
|
799 |
889 |
3.84e-1 |
SMART |
|
PKD
|
897 |
975 |
8.63e-1 |
SMART |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164039
AA Change: H609R
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132615
Gene: ENSMUSG00000043531
AA Change: H609R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
113 |
N/A |
INTRINSIC |
|
VPS10
|
196 |
797 |
N/A |
SMART |
|
PKD
|
799 |
889 |
3.84e-1 |
SMART |
|
PKD
|
897 |
975 |
8.63e-1 |
SMART |
|
transmembrane domain
|
1098 |
1120 |
N/A |
INTRINSIC |
|
low complexity region
|
1129 |
1142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168357
|
| SMART Domains |
Protein: ENSMUSP00000129190
Gene: ENSMUSG00000043531
| Domain | Start | End | E-Value | Type |
|---|
|
VPS10
|
1 |
320 |
6.99e-58 |
SMART |
|
PKD
|
322 |
412 |
3.84e-1 |
SMART |
|
PKD
|
420 |
498 |
8.63e-1 |
SMART |
|
transmembrane domain
|
621 |
643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209413
AA Change: H609R
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209783
AA Change: H609R
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211008
AA Change: H609R
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211687
AA Change: H609R
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null allele have abnormal amyloid beta levels in the brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
C |
T |
5: 8,874,803 (GRCm39) |
R488C |
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
| Aicda |
T |
A |
6: 122,538,244 (GRCm39) |
V134D |
possibly damaging |
Het |
| Akt2 |
T |
A |
7: 27,336,625 (GRCm39) |
|
probably null |
Het |
| Aldh1a3 |
T |
C |
7: 66,055,769 (GRCm39) |
R341G |
probably damaging |
Het |
| Ankrd12 |
G |
T |
17: 66,338,569 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
A |
G |
14: 25,874,721 (GRCm39) |
Y244C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,475,048 (GRCm39) |
R551Q |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bcl11a |
G |
T |
11: 24,113,343 (GRCm39) |
G229W |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,603,987 (GRCm39) |
S1282T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,890,882 (GRCm39) |
I241V |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,018,194 (GRCm39) |
|
probably benign |
Het |
| Cdk17 |
G |
A |
10: 93,064,624 (GRCm39) |
D298N |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,918,020 (GRCm39) |
*354W |
probably null |
Het |
| Celf6 |
A |
T |
9: 59,511,610 (GRCm39) |
Y401F |
possibly damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,990,766 (GRCm39) |
L169F |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,327,082 (GRCm39) |
F1411L |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,493,352 (GRCm39) |
G1354W |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,906 (GRCm39) |
F838S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,503,744 (GRCm39) |
V1654E |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,343,817 (GRCm39) |
L2406F |
probably benign |
Het |
| Fam98b |
C |
G |
2: 117,098,300 (GRCm39) |
R257G |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,214,471 (GRCm39) |
C900* |
probably null |
Het |
| Fgf1 |
A |
G |
18: 38,980,138 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,807,823 (GRCm39) |
S1381A |
probably benign |
Het |
| Gtf2b |
G |
A |
3: 142,484,081 (GRCm39) |
G85D |
probably benign |
Het |
| Gyg1 |
C |
A |
3: 20,204,703 (GRCm39) |
G161C |
probably damaging |
Het |
| Hemgn |
G |
T |
4: 46,396,301 (GRCm39) |
L312I |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,324 (GRCm39) |
M51T |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,241,633 (GRCm39) |
R287H |
probably damaging |
Het |
| Igf2bp3 |
C |
T |
6: 49,065,488 (GRCm39) |
G468E |
possibly damaging |
Het |
| Il5ra |
C |
A |
6: 106,689,402 (GRCm39) |
E397* |
probably null |
Het |
| Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,412,898 (GRCm39) |
D29E |
probably damaging |
Het |
| Lamc2 |
T |
G |
1: 153,009,452 (GRCm39) |
E784D |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,297,372 (GRCm39) |
N3196K |
possibly damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,181,962 (GRCm39) |
C96* |
probably null |
Het |
| Maf1 |
A |
G |
15: 76,236,718 (GRCm39) |
T17A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,591 (GRCm39) |
D1710G |
unknown |
Het |
| Megf8 |
C |
T |
7: 25,049,222 (GRCm39) |
T1773I |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,987,450 (GRCm39) |
M414T |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,396,860 (GRCm39) |
N2643S |
probably benign |
Het |
| Ndufa9 |
A |
G |
6: 126,821,772 (GRCm39) |
Y64H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,101,579 (GRCm39) |
L4354* |
probably null |
Het |
| Nom1 |
T |
A |
5: 29,644,972 (GRCm39) |
I480N |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,315,082 (GRCm39) |
T331M |
probably damaging |
Het |
| Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or4f14b |
A |
C |
2: 111,775,270 (GRCm39) |
F177C |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,612 (GRCm39) |
S66P |
probably damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
| Pgm2l1 |
T |
A |
7: 99,917,319 (GRCm39) |
|
probably null |
Het |
| Pih1d2 |
C |
A |
9: 50,532,379 (GRCm39) |
H162N |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,288,779 (GRCm39) |
V618F |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,473,984 (GRCm39) |
S599P |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,556,260 (GRCm39) |
D562G |
probably damaging |
Het |
| Proser1 |
T |
G |
3: 53,385,812 (GRCm39) |
S565A |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,213 (GRCm39) |
V238E |
probably damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,509 (GRCm39) |
I367T |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,767,595 (GRCm39) |
V128A |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,091,233 (GRCm39) |
M1K |
probably null |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,825,823 (GRCm39) |
S552P |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,190,896 (GRCm39) |
S225P |
possibly damaging |
Het |
| Serpina3c |
T |
A |
12: 104,117,757 (GRCm39) |
I194F |
probably benign |
Het |
| Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,285,632 (GRCm39) |
V356E |
probably damaging |
Het |
| Slfn1 |
A |
G |
11: 83,011,992 (GRCm39) |
E36G |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 70,764,043 (GRCm39) |
H621R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,553,788 (GRCm39) |
G401D |
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,796,155 (GRCm39) |
I590K |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
| Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
| Zfp131 |
A |
T |
13: 120,237,348 (GRCm39) |
F303I |
probably damaging |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,064 (GRCm39) |
I567F |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,292,861 (GRCm39) |
V2096A |
probably damaging |
Het |
|
| Other mutations in Sorcs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Sorcs1
|
APN |
19 |
50,178,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00983:Sorcs1
|
APN |
19 |
50,164,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01125:Sorcs1
|
APN |
19 |
50,216,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01320:Sorcs1
|
APN |
19 |
50,276,517 (GRCm39) |
splice site |
probably benign |
|
|
IGL01445:Sorcs1
|
APN |
19 |
50,141,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01682:Sorcs1
|
APN |
19 |
50,169,944 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01799:Sorcs1
|
APN |
19 |
50,218,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02044:Sorcs1
|
APN |
19 |
50,276,597 (GRCm39) |
splice site |
probably benign |
|
|
IGL02111:Sorcs1
|
APN |
19 |
50,218,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02364:Sorcs1
|
APN |
19 |
50,322,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Sorcs1
|
APN |
19 |
50,171,109 (GRCm39) |
nonsense |
probably null |
|
|
IGL02498:Sorcs1
|
APN |
19 |
50,666,606 (GRCm39) |
missense |
probably benign |
|
|
IGL02658:Sorcs1
|
APN |
19 |
50,178,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Sorcs1
|
APN |
19 |
50,666,368 (GRCm39) |
nonsense |
probably null |
|
|
IGL02942:Sorcs1
|
APN |
19 |
50,463,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Sorcs1
|
APN |
19 |
50,248,194 (GRCm39) |
nonsense |
probably null |
|
|
IGL03230:Sorcs1
|
APN |
19 |
50,230,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Sorcs1
|
UTSW |
19 |
50,141,345 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0109:Sorcs1
|
UTSW |
19 |
50,367,329 (GRCm39) |
splice site |
probably benign |
|
|
R0115:Sorcs1
|
UTSW |
19 |
50,624,891 (GRCm39) |
intron |
probably benign |
|
|
R0242:Sorcs1
|
UTSW |
19 |
50,216,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Sorcs1
|
UTSW |
19 |
50,216,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Sorcs1
|
UTSW |
19 |
50,301,480 (GRCm39) |
splice site |
probably null |
|
|
R0481:Sorcs1
|
UTSW |
19 |
50,624,891 (GRCm39) |
intron |
probably benign |
|
|
R0581:Sorcs1
|
UTSW |
19 |
50,241,139 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0669:Sorcs1
|
UTSW |
19 |
50,230,380 (GRCm39) |
splice site |
probably benign |
|
|
R0980:Sorcs1
|
UTSW |
19 |
50,220,761 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1158:Sorcs1
|
UTSW |
19 |
50,132,598 (GRCm39) |
unclassified |
probably benign |
|
|
R1519:Sorcs1
|
UTSW |
19 |
50,241,025 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1669:Sorcs1
|
UTSW |
19 |
50,463,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1779:Sorcs1
|
UTSW |
19 |
50,163,481 (GRCm39) |
splice site |
probably benign |
|
|
R1783:Sorcs1
|
UTSW |
19 |
50,216,747 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1927:Sorcs1
|
UTSW |
19 |
50,210,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Sorcs1
|
UTSW |
19 |
50,221,082 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1936:Sorcs1
|
UTSW |
19 |
50,221,082 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2109:Sorcs1
|
UTSW |
19 |
50,666,630 (GRCm39) |
missense |
probably benign |
|
|
R2206:Sorcs1
|
UTSW |
19 |
50,218,655 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3031:Sorcs1
|
UTSW |
19 |
50,213,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3032:Sorcs1
|
UTSW |
19 |
50,213,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3107:Sorcs1
|
UTSW |
19 |
50,199,088 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3508:Sorcs1
|
UTSW |
19 |
50,213,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3738:Sorcs1
|
UTSW |
19 |
50,139,659 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4127:Sorcs1
|
UTSW |
19 |
50,210,597 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4212:Sorcs1
|
UTSW |
19 |
50,213,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4213:Sorcs1
|
UTSW |
19 |
50,213,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4385:Sorcs1
|
UTSW |
19 |
50,178,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4424:Sorcs1
|
UTSW |
19 |
50,367,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4603:Sorcs1
|
UTSW |
19 |
50,301,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4679:Sorcs1
|
UTSW |
19 |
50,171,107 (GRCm39) |
missense |
probably benign |
|
|
R4780:Sorcs1
|
UTSW |
19 |
50,132,419 (GRCm39) |
unclassified |
probably benign |
|
|
R4781:Sorcs1
|
UTSW |
19 |
50,171,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Sorcs1
|
UTSW |
19 |
50,218,740 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4823:Sorcs1
|
UTSW |
19 |
50,666,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4883:Sorcs1
|
UTSW |
19 |
50,220,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5091:Sorcs1
|
UTSW |
19 |
50,248,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5105:Sorcs1
|
UTSW |
19 |
50,213,579 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5437:Sorcs1
|
UTSW |
19 |
50,241,040 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5574:Sorcs1
|
UTSW |
19 |
50,210,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5734:Sorcs1
|
UTSW |
19 |
50,171,213 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6045:Sorcs1
|
UTSW |
19 |
50,178,555 (GRCm39) |
nonsense |
probably null |
|
|
R6091:Sorcs1
|
UTSW |
19 |
50,276,539 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6119:Sorcs1
|
UTSW |
19 |
50,276,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6226:Sorcs1
|
UTSW |
19 |
50,169,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Sorcs1
|
UTSW |
19 |
50,132,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6378:Sorcs1
|
UTSW |
19 |
50,213,615 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6782:Sorcs1
|
UTSW |
19 |
50,164,560 (GRCm39) |
nonsense |
probably null |
|
|
R6792:Sorcs1
|
UTSW |
19 |
50,666,606 (GRCm39) |
missense |
probably benign |
|
|
R6891:Sorcs1
|
UTSW |
19 |
50,213,557 (GRCm39) |
nonsense |
probably null |
|
|
R7151:Sorcs1
|
UTSW |
19 |
50,301,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Sorcs1
|
UTSW |
19 |
50,178,480 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7356:Sorcs1
|
UTSW |
19 |
50,163,595 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7471:Sorcs1
|
UTSW |
19 |
50,250,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Sorcs1
|
UTSW |
19 |
50,141,550 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7503:Sorcs1
|
UTSW |
19 |
50,141,490 (GRCm39) |
missense |
probably benign |
|
|
R7506:Sorcs1
|
UTSW |
19 |
50,171,112 (GRCm39) |
nonsense |
probably null |
|
|
R7573:Sorcs1
|
UTSW |
19 |
50,141,234 (GRCm39) |
nonsense |
probably null |
|
|
R7867:Sorcs1
|
UTSW |
19 |
50,218,698 (GRCm39) |
nonsense |
probably null |
|
|
R7911:Sorcs1
|
UTSW |
19 |
50,132,470 (GRCm39) |
missense |
unknown |
|
|
R8032:Sorcs1
|
UTSW |
19 |
50,463,846 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8063:Sorcs1
|
UTSW |
19 |
50,132,415 (GRCm39) |
missense |
unknown |
|
|
R8463:Sorcs1
|
UTSW |
19 |
50,248,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8682:Sorcs1
|
UTSW |
19 |
50,367,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8724:Sorcs1
|
UTSW |
19 |
50,139,658 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8926:Sorcs1
|
UTSW |
19 |
50,241,096 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9160:Sorcs1
|
UTSW |
19 |
50,213,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9173:Sorcs1
|
UTSW |
19 |
50,220,753 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9203:Sorcs1
|
UTSW |
19 |
50,250,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Sorcs1
|
UTSW |
19 |
50,141,300 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9398:Sorcs1
|
UTSW |
19 |
50,213,651 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9430:Sorcs1
|
UTSW |
19 |
50,199,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Sorcs1
|
UTSW |
19 |
50,666,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9511:Sorcs1
|
UTSW |
19 |
50,666,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9744:Sorcs1
|
UTSW |
19 |
50,215,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Sorcs1
|
UTSW |
19 |
50,248,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0024:Sorcs1
|
UTSW |
19 |
50,171,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Sorcs1
|
UTSW |
19 |
50,210,581 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1177:Sorcs1
|
UTSW |
19 |
50,322,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sorcs1
|
UTSW |
19 |
50,215,180 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCATAATGCAGTTGTCCTG -3'
(R):5'- GCTTACATTTTCTCAAAGACTTAGGGG -3'
Sequencing Primer
(F):5'- TCCTGTTAGGAGCAGAAACACTTAC -3'
(R):5'- GTGCACCTTGAACACCAA -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation