Incidental Mutation 'R0511:Pcnt'
| ID |
46931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnt
|
| Ensembl Gene |
ENSMUSG00000001151 |
| Gene Name |
pericentrin (kendrin) |
| Synonyms |
m239Asp, m275Asp, Pcnt2 |
| MMRRC Submission |
038705-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0511 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
76351263-76442786 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76404595 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1202
(S1202T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151534
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001179]
[ENSMUST00000217838]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001179
AA Change: S1202T
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001179
Gene: ENSMUSG00000001151
AA Change: S1202T
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
78 |
2.47e-5 |
PROSPERO |
|
low complexity region
|
104 |
114 |
N/A |
INTRINSIC |
|
coiled coil region
|
131 |
229 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
241 |
259 |
6.69e-5 |
PROSPERO |
|
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
391 |
409 |
6.69e-5 |
PROSPERO |
|
low complexity region
|
456 |
467 |
N/A |
INTRINSIC |
|
coiled coil region
|
468 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
554 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
666 |
N/A |
INTRINSIC |
|
coiled coil region
|
727 |
787 |
N/A |
INTRINSIC |
|
coiled coil region
|
871 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
969 |
985 |
N/A |
INTRINSIC |
|
coiled coil region
|
1055 |
1383 |
N/A |
INTRINSIC |
|
coiled coil region
|
1429 |
1481 |
N/A |
INTRINSIC |
|
coiled coil region
|
1529 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1614 |
1624 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1916 |
1964 |
2.47e-5 |
PROSPERO |
|
coiled coil region
|
2158 |
2178 |
N/A |
INTRINSIC |
|
coiled coil region
|
2211 |
2279 |
N/A |
INTRINSIC |
|
coiled coil region
|
2300 |
2421 |
N/A |
INTRINSIC |
|
coiled coil region
|
2447 |
2526 |
N/A |
INTRINSIC |
|
Pfam:PACT_coil_coil
|
2718 |
2797 |
5.8e-29 |
PFAM |
|
internal_repeat_1
|
2820 |
2885 |
2.47e-5 |
PROSPERO |
|
internal_repeat_2
|
2844 |
2891 |
2.47e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190491
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217838
AA Change: S1202T
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220395
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (116/116) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality. [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 |
|---|
| 0610009O20Rik |
T |
C |
18: 38,254,071 (GRCm38) |
|
probably null |
Het |
| A630095E13Rik |
A |
T |
9: 36,638,577 (GRCm38) |
|
probably null |
Het |
| Abca13 |
G |
T |
11: 9,294,559 (GRCm38) |
V2141L |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,340,458 (GRCm38) |
|
probably benign |
Het |
| Adam3 |
A |
T |
8: 24,695,315 (GRCm38) |
C456S |
probably damaging |
Het |
| AI464131 |
A |
G |
4: 41,498,538 (GRCm38) |
F364S |
probably damaging |
Het |
| Aldh4a1 |
G |
T |
4: 139,642,571 (GRCm38) |
|
probably benign |
Het |
| Anapc4 |
A |
G |
5: 52,842,017 (GRCm38) |
|
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,882,368 (GRCm38) |
Q483L |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,242,059 (GRCm38) |
|
probably benign |
Het |
| Ankrd13b |
T |
A |
11: 77,473,288 (GRCm38) |
T150S |
possibly damaging |
Het |
| Apeh |
A |
G |
9: 108,087,055 (GRCm38) |
M524T |
probably benign |
Het |
| Arl14epl |
T |
A |
18: 46,926,417 (GRCm38) |
|
probably null |
Het |
| Atg2a |
T |
C |
19: 6,252,539 (GRCm38) |
F964S |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,617,153 (GRCm38) |
V2050M |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,732,218 (GRCm38) |
|
probably benign |
Het |
| Bbof1 |
T |
A |
12: 84,430,271 (GRCm38) |
S512T |
probably benign |
Het |
| BC055324 |
T |
C |
1: 163,971,843 (GRCm38) |
|
probably null |
Het |
| C130079G13Rik |
A |
G |
3: 59,936,350 (GRCm38) |
H155R |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,075,140 (GRCm38) |
R1614L |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,490,582 (GRCm38) |
Y100H |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,893,296 (GRCm38) |
E124V |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,872,927 (GRCm38) |
T204A |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,604,176 (GRCm38) |
S178P |
probably damaging |
Het |
| Chat |
G |
A |
14: 32,409,019 (GRCm38) |
T555M |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,992,191 (GRCm38) |
F917S |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,149,104 (GRCm38) |
T233N |
probably damaging |
Het |
| Cnpy2 |
T |
C |
10: 128,326,185 (GRCm38) |
V109A |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,208,333 (GRCm38) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,932,529 (GRCm38) |
V2713M |
possibly damaging |
Het |
| Cuedc1 |
G |
A |
11: 88,183,405 (GRCm38) |
R255Q |
probably damaging |
Het |
| Cxcl15 |
A |
T |
5: 90,798,038 (GRCm38) |
|
probably benign |
Het |
| Dach1 |
A |
T |
14: 97,901,329 (GRCm38) |
H559Q |
possibly damaging |
Het |
| Dennd4c |
C |
T |
4: 86,826,022 (GRCm38) |
T1367M |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 32,945,028 (GRCm38) |
Y365* |
probably null |
Het |
| Dicer1 |
T |
C |
12: 104,702,841 (GRCm38) |
Y1194C |
possibly damaging |
Het |
| Dmxl1 |
C |
G |
18: 49,891,467 (GRCm38) |
S1736* |
probably null |
Het |
| Dnah7a |
C |
T |
1: 53,497,126 (GRCm38) |
R2586K |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,222,485 (GRCm38) |
M1T |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,122,692 (GRCm38) |
P2088L |
probably benign |
Het |
| Eftud2 |
T |
G |
11: 102,844,222 (GRCm38) |
H617P |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 101,995,980 (GRCm38) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,698,879 (GRCm38) |
H155Q |
probably benign |
Het |
| Ganc |
G |
T |
2: 120,448,401 (GRCm38) |
E700* |
probably null |
Het |
| Gm10912 |
A |
G |
2: 104,066,945 (GRCm38) |
|
probably benign |
Het |
| Gm9047 |
G |
T |
6: 29,478,170 (GRCm38) |
|
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,659,067 (GRCm38) |
I294N |
probably damaging |
Het |
| Hmgcr |
G |
T |
13: 96,660,143 (GRCm38) |
|
probably null |
Het |
| Hr |
T |
A |
14: 70,561,912 (GRCm38) |
C641* |
probably null |
Het |
| Itga10 |
A |
G |
3: 96,658,174 (GRCm38) |
N1038S |
probably damaging |
Het |
| Itgb1bp1 |
T |
G |
12: 21,271,435 (GRCm38) |
Y172S |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,824,723 (GRCm38) |
N340S |
probably damaging |
Het |
| Kremen1 |
A |
G |
11: 5,215,447 (GRCm38) |
I41T |
probably damaging |
Het |
| Krt6b |
A |
G |
15: 101,677,607 (GRCm38) |
|
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,463,627 (GRCm38) |
R24L |
possibly damaging |
Het |
| Ldhd |
A |
G |
8: 111,629,677 (GRCm38) |
Y86H |
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,912,785 (GRCm38) |
I76N |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,046,267 (GRCm38) |
T299A |
probably benign |
Het |
| Med25 |
A |
G |
7: 44,885,078 (GRCm38) |
|
probably null |
Het |
| Mpg |
A |
T |
11: 32,230,039 (GRCm38) |
N189I |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,229,918 (GRCm38) |
Y556H |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,284,507 (GRCm38) |
S294T |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,084,317 (GRCm38) |
D842E |
probably benign |
Het |
| Nat2 |
C |
T |
8: 67,501,330 (GRCm38) |
Q31* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,438,769 (GRCm38) |
M653K |
probably benign |
Het |
| Nhs |
C |
A |
X: 161,837,359 (GRCm38) |
R1467I |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm38) |
E206G |
probably benign |
Het |
| Nsd3 |
G |
A |
8: 25,678,716 (GRCm38) |
G629D |
possibly damaging |
Het |
| Nwd1 |
G |
A |
8: 72,682,005 (GRCm38) |
C831Y |
probably damaging |
Het |
| Olfr1094 |
A |
G |
2: 86,829,606 (GRCm38) |
I285V |
probably benign |
Het |
| Olfr584 |
T |
C |
7: 103,085,851 (GRCm38) |
I111T |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,116,028 (GRCm38) |
S4P |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,635,715 (GRCm38) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,678,285 (GRCm38) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,679,398 (GRCm38) |
|
probably benign |
Het |
| Pfkfb4 |
A |
G |
9: 109,027,757 (GRCm38) |
Y412C |
probably damaging |
Het |
| Pgm1 |
T |
A |
5: 64,110,555 (GRCm38) |
V449D |
probably damaging |
Het |
| Poldip3 |
T |
A |
15: 83,138,235 (GRCm38) |
D116V |
probably damaging |
Het |
| Pom121 |
G |
T |
5: 135,381,832 (GRCm38) |
Q824K |
unknown |
Het |
| Prkdc |
G |
T |
16: 15,831,282 (GRCm38) |
G3707* |
probably null |
Het |
| Prr14l |
T |
C |
5: 32,844,216 (GRCm38) |
|
probably benign |
Het |
| Ptbp2 |
T |
G |
3: 119,720,964 (GRCm38) |
I405L |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,649,069 (GRCm38) |
|
probably benign |
Het |
| Rbm6 |
G |
A |
9: 107,847,289 (GRCm38) |
Q488* |
probably null |
Het |
| Rdh1 |
T |
A |
10: 127,764,783 (GRCm38) |
M225K |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,928,383 (GRCm38) |
D119G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 73,013,125 (GRCm38) |
|
probably null |
Het |
| Samd12 |
G |
A |
15: 53,860,171 (GRCm38) |
T42I |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,613,700 (GRCm38) |
M1494K |
probably damaging |
Het |
| Sec31a |
G |
A |
5: 100,375,240 (GRCm38) |
P864L |
probably benign |
Het |
| Senp2 |
T |
C |
16: 22,036,570 (GRCm38) |
V344A |
probably benign |
Het |
| Serpina5 |
G |
A |
12: 104,103,362 (GRCm38) |
D278N |
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,703,462 (GRCm38) |
V1017D |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,096,895 (GRCm38) |
Y310* |
probably null |
Het |
| Slc25a32 |
T |
C |
15: 39,097,545 (GRCm38) |
T248A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 72,492,571 (GRCm38) |
|
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,286,862 (GRCm38) |
V722M |
probably damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,830,860 (GRCm38) |
|
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,929,058 (GRCm38) |
Y52N |
probably damaging |
Het |
| Sncb |
T |
G |
13: 54,765,587 (GRCm38) |
T33P |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,583,984 (GRCm38) |
|
probably null |
Het |
| Sugp1 |
A |
G |
8: 70,059,363 (GRCm38) |
E203G |
probably damaging |
Het |
| Suv39h2 |
A |
T |
2: 3,472,579 (GRCm38) |
C105S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 64,926,620 (GRCm38) |
F205I |
probably damaging |
Het |
| Tnip1 |
A |
T |
11: 54,917,873 (GRCm38) |
M496K |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,718,245 (GRCm38) |
E2889K |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,365,803 (GRCm38) |
H126L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,826,718 (GRCm38) |
Y759* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,323,120 (GRCm38) |
I1000T |
possibly damaging |
Het |
| Ttc27 |
A |
T |
17: 74,718,715 (GRCm38) |
N61I |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,112,750 (GRCm38) |
Y990C |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,664,440 (GRCm38) |
|
probably benign |
Het |
| Vmn2r55 |
C |
T |
7: 12,671,018 (GRCm38) |
A153T |
possibly damaging |
Het |
| Wars2 |
A |
G |
3: 99,216,549 (GRCm38) |
D242G |
probably damaging |
Het |
| Xylt2 |
G |
A |
11: 94,669,936 (GRCm38) |
Q259* |
probably null |
Het |
| Zfp27 |
G |
A |
7: 29,894,522 (GRCm38) |
P673S |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,584,660 (GRCm38) |
I1023T |
possibly damaging |
Het |
|
| Other mutations in Pcnt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Pcnt
|
APN |
10 |
76,422,904 (GRCm38) |
nonsense |
probably null |
|
|
IGL01307:Pcnt
|
APN |
10 |
76,411,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01549:Pcnt
|
APN |
10 |
76,367,486 (GRCm38) |
splice site |
probably null |
|
|
IGL01576:Pcnt
|
APN |
10 |
76,368,822 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01611:Pcnt
|
APN |
10 |
76,436,424 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01630:Pcnt
|
APN |
10 |
76,420,246 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01647:Pcnt
|
APN |
10 |
76,370,001 (GRCm38) |
nonsense |
probably null |
|
|
IGL01689:Pcnt
|
APN |
10 |
76,411,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01690:Pcnt
|
APN |
10 |
76,392,775 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01723:Pcnt
|
APN |
10 |
76,418,499 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL01920:Pcnt
|
APN |
10 |
76,404,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01958:Pcnt
|
APN |
10 |
76,433,679 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02210:Pcnt
|
APN |
10 |
76,389,219 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02225:Pcnt
|
APN |
10 |
76,389,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02228:Pcnt
|
APN |
10 |
76,389,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02237:Pcnt
|
APN |
10 |
76,352,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02279:Pcnt
|
APN |
10 |
76,403,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02303:Pcnt
|
APN |
10 |
76,442,559 (GRCm38) |
splice site |
probably benign |
|
|
IGL02355:Pcnt
|
APN |
10 |
76,375,162 (GRCm38) |
nonsense |
probably null |
|
|
IGL02362:Pcnt
|
APN |
10 |
76,375,162 (GRCm38) |
nonsense |
probably null |
|
|
IGL02428:Pcnt
|
APN |
10 |
76,429,256 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02536:Pcnt
|
APN |
10 |
76,380,229 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02715:Pcnt
|
APN |
10 |
76,368,722 (GRCm38) |
splice site |
probably benign |
|
|
IGL02800:Pcnt
|
APN |
10 |
76,412,583 (GRCm38) |
nonsense |
probably null |
|
|
IGL03395:Pcnt
|
APN |
10 |
76,436,491 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02799:Pcnt
|
UTSW |
10 |
76,412,583 (GRCm38) |
nonsense |
probably null |
|
|
PIT4520001:Pcnt
|
UTSW |
10 |
76,420,235 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0049:Pcnt
|
UTSW |
10 |
76,369,821 (GRCm38) |
unclassified |
probably benign |
|
|
R0049:Pcnt
|
UTSW |
10 |
76,369,821 (GRCm38) |
unclassified |
probably benign |
|
|
R0109:Pcnt
|
UTSW |
10 |
76,389,196 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0117:Pcnt
|
UTSW |
10 |
76,408,727 (GRCm38) |
nonsense |
probably null |
|
|
R0254:Pcnt
|
UTSW |
10 |
76,392,580 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0392:Pcnt
|
UTSW |
10 |
76,384,826 (GRCm38) |
missense |
probably benign |
|
|
R0570:Pcnt
|
UTSW |
10 |
76,412,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0614:Pcnt
|
UTSW |
10 |
76,420,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Pcnt
|
UTSW |
10 |
76,404,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0707:Pcnt
|
UTSW |
10 |
76,420,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0749:Pcnt
|
UTSW |
10 |
76,381,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0969:Pcnt
|
UTSW |
10 |
76,427,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1172:Pcnt
|
UTSW |
10 |
76,393,044 (GRCm38) |
splice site |
probably null |
|
|
R1174:Pcnt
|
UTSW |
10 |
76,393,044 (GRCm38) |
splice site |
probably null |
|
|
R1175:Pcnt
|
UTSW |
10 |
76,393,044 (GRCm38) |
splice site |
probably null |
|
|
R1512:Pcnt
|
UTSW |
10 |
76,404,662 (GRCm38) |
splice site |
probably null |
|
|
R1542:Pcnt
|
UTSW |
10 |
76,401,386 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1542:Pcnt
|
UTSW |
10 |
76,389,387 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1558:Pcnt
|
UTSW |
10 |
76,422,922 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R1562:Pcnt
|
UTSW |
10 |
76,367,330 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1762:Pcnt
|
UTSW |
10 |
76,355,137 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1779:Pcnt
|
UTSW |
10 |
76,408,796 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1869:Pcnt
|
UTSW |
10 |
76,379,906 (GRCm38) |
missense |
probably null |
0.94 |
|
R1911:Pcnt
|
UTSW |
10 |
76,368,816 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1985:Pcnt
|
UTSW |
10 |
76,380,337 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1995:Pcnt
|
UTSW |
10 |
76,392,799 (GRCm38) |
nonsense |
probably null |
|
|
R2073:Pcnt
|
UTSW |
10 |
76,380,380 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2111:Pcnt
|
UTSW |
10 |
76,420,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2112:Pcnt
|
UTSW |
10 |
76,420,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2309:Pcnt
|
UTSW |
10 |
76,442,626 (GRCm38) |
start gained |
probably benign |
|
|
R2902:Pcnt
|
UTSW |
10 |
76,375,230 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3623:Pcnt
|
UTSW |
10 |
76,433,750 (GRCm38) |
missense |
probably benign |
0.23 |
|
R4088:Pcnt
|
UTSW |
10 |
76,428,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4300:Pcnt
|
UTSW |
10 |
76,367,391 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4402:Pcnt
|
UTSW |
10 |
76,392,393 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4407:Pcnt
|
UTSW |
10 |
76,374,870 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4483:Pcnt
|
UTSW |
10 |
76,401,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4647:Pcnt
|
UTSW |
10 |
76,354,213 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4734:Pcnt
|
UTSW |
10 |
76,437,206 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4747:Pcnt
|
UTSW |
10 |
76,436,465 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4782:Pcnt
|
UTSW |
10 |
76,409,577 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4795:Pcnt
|
UTSW |
10 |
76,370,024 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4831:Pcnt
|
UTSW |
10 |
76,412,501 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4873:Pcnt
|
UTSW |
10 |
76,369,854 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4875:Pcnt
|
UTSW |
10 |
76,369,854 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4946:Pcnt
|
UTSW |
10 |
76,356,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5032:Pcnt
|
UTSW |
10 |
76,355,077 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5033:Pcnt
|
UTSW |
10 |
76,399,945 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5106:Pcnt
|
UTSW |
10 |
76,401,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5118:Pcnt
|
UTSW |
10 |
76,412,168 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5167:Pcnt
|
UTSW |
10 |
76,420,424 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5199:Pcnt
|
UTSW |
10 |
76,418,544 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5223:Pcnt
|
UTSW |
10 |
76,380,272 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5241:Pcnt
|
UTSW |
10 |
76,433,617 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5308:Pcnt
|
UTSW |
10 |
76,356,325 (GRCm38) |
nonsense |
probably null |
|
|
R5328:Pcnt
|
UTSW |
10 |
76,411,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5454:Pcnt
|
UTSW |
10 |
76,389,547 (GRCm38) |
splice site |
probably null |
|
|
R5543:Pcnt
|
UTSW |
10 |
76,412,052 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5588:Pcnt
|
UTSW |
10 |
76,442,611 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5647:Pcnt
|
UTSW |
10 |
76,385,841 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5668:Pcnt
|
UTSW |
10 |
76,409,500 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5712:Pcnt
|
UTSW |
10 |
76,429,271 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5714:Pcnt
|
UTSW |
10 |
76,420,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5797:Pcnt
|
UTSW |
10 |
76,392,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5946:Pcnt
|
UTSW |
10 |
76,382,063 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5955:Pcnt
|
UTSW |
10 |
76,411,622 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R6024:Pcnt
|
UTSW |
10 |
76,420,037 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6267:Pcnt
|
UTSW |
10 |
76,385,798 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6485:Pcnt
|
UTSW |
10 |
76,389,330 (GRCm38) |
nonsense |
probably null |
|
|
R6605:Pcnt
|
UTSW |
10 |
76,429,198 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6877:Pcnt
|
UTSW |
10 |
76,434,017 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6882:Pcnt
|
UTSW |
10 |
76,427,828 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6919:Pcnt
|
UTSW |
10 |
76,385,798 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7025:Pcnt
|
UTSW |
10 |
76,403,835 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7098:Pcnt
|
UTSW |
10 |
76,384,839 (GRCm38) |
missense |
probably benign |
|
|
R7109:Pcnt
|
UTSW |
10 |
76,369,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7121:Pcnt
|
UTSW |
10 |
76,427,927 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7143:Pcnt
|
UTSW |
10 |
76,389,060 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7152:Pcnt
|
UTSW |
10 |
76,411,360 (GRCm38) |
splice site |
probably null |
|
|
R7213:Pcnt
|
UTSW |
10 |
76,408,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7368:Pcnt
|
UTSW |
10 |
76,400,001 (GRCm38) |
missense |
probably benign |
|
|
R7453:Pcnt
|
UTSW |
10 |
76,389,450 (GRCm38) |
missense |
probably benign |
|
|
R7486:Pcnt
|
UTSW |
10 |
76,418,437 (GRCm38) |
missense |
probably benign |
|
|
R7486:Pcnt
|
UTSW |
10 |
76,418,436 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7538:Pcnt
|
UTSW |
10 |
76,399,939 (GRCm38) |
missense |
probably benign |
|
|
R7575:Pcnt
|
UTSW |
10 |
76,389,252 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7662:Pcnt
|
UTSW |
10 |
76,387,522 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7685:Pcnt
|
UTSW |
10 |
76,422,808 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7764:Pcnt
|
UTSW |
10 |
76,354,248 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7802:Pcnt
|
UTSW |
10 |
76,375,303 (GRCm38) |
splice site |
probably null |
|
|
R8432:Pcnt
|
UTSW |
10 |
76,420,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8439:Pcnt
|
UTSW |
10 |
76,420,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8493:Pcnt
|
UTSW |
10 |
76,403,623 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8530:Pcnt
|
UTSW |
10 |
76,420,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8535:Pcnt
|
UTSW |
10 |
76,420,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8830:Pcnt
|
UTSW |
10 |
76,382,174 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8878:Pcnt
|
UTSW |
10 |
76,408,841 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8911:Pcnt
|
UTSW |
10 |
76,387,525 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8988:Pcnt
|
UTSW |
10 |
76,409,573 (GRCm38) |
nonsense |
probably null |
|
|
R9084:Pcnt
|
UTSW |
10 |
76,399,992 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9169:Pcnt
|
UTSW |
10 |
76,385,738 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9372:Pcnt
|
UTSW |
10 |
76,423,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9411:Pcnt
|
UTSW |
10 |
76,423,062 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9448:Pcnt
|
UTSW |
10 |
76,420,526 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9459:Pcnt
|
UTSW |
10 |
76,392,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9479:Pcnt
|
UTSW |
10 |
76,382,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9503:Pcnt
|
UTSW |
10 |
76,428,048 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R9561:Pcnt
|
UTSW |
10 |
76,381,294 (GRCm38) |
nonsense |
probably null |
|
|
R9618:Pcnt
|
UTSW |
10 |
76,352,960 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9648:Pcnt
|
UTSW |
10 |
76,354,255 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9733:Pcnt
|
UTSW |
10 |
76,401,480 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Pcnt
|
UTSW |
10 |
76,382,157 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Pcnt
|
UTSW |
10 |
76,399,968 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCTTACATCCATGAACTGACGC -3'
(R):5'- GCTTGAATCTCACGCCAGCCATAG -3'
Sequencing Primer
(F):5'- ATGAACTGACGCTGGCTAC -3'
(R):5'- ACGGTTGTCTCCTAAGCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation