Incidental Mutation 'R0240:Pcnx1'
ID |
59340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcnx1
|
Ensembl Gene |
ENSMUSG00000021140 |
Gene Name |
pecanex 1 |
Synonyms |
3526401J03Rik, 2900024E21Rik, Pcnx |
MMRRC Submission |
038478-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0240 (G1)
|
Quality Score |
162 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
81906797-82047698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81993792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 908
(I908T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152104
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021567]
[ENSMUST00000221721]
[ENSMUST00000222005]
|
AlphaFold |
Q9QYC1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021567
AA Change: I909T
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000021567 Gene: ENSMUSG00000021140 AA Change: I909T
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
low complexity region
|
369 |
390 |
N/A |
INTRINSIC |
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
low complexity region
|
616 |
638 |
N/A |
INTRINSIC |
low complexity region
|
672 |
692 |
N/A |
INTRINSIC |
low complexity region
|
764 |
783 |
N/A |
INTRINSIC |
low complexity region
|
817 |
835 |
N/A |
INTRINSIC |
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
low complexity region
|
911 |
922 |
N/A |
INTRINSIC |
transmembrane domain
|
1006 |
1028 |
N/A |
INTRINSIC |
transmembrane domain
|
1035 |
1052 |
N/A |
INTRINSIC |
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
transmembrane domain
|
1113 |
1135 |
N/A |
INTRINSIC |
transmembrane domain
|
1163 |
1185 |
N/A |
INTRINSIC |
transmembrane domain
|
1197 |
1216 |
N/A |
INTRINSIC |
transmembrane domain
|
1269 |
1291 |
N/A |
INTRINSIC |
transmembrane domain
|
1298 |
1315 |
N/A |
INTRINSIC |
Pfam:Pecanex_C
|
1785 |
2011 |
1.6e-118 |
PFAM |
low complexity region
|
2125 |
2140 |
N/A |
INTRINSIC |
low complexity region
|
2195 |
2202 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000221675
AA Change: I275T
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221721
AA Change: I908T
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222005
|
Meta Mutation Damage Score |
0.1364 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
Validation Efficiency |
100% (112/112) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 110 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
T |
C |
8: 123,506,920 (GRCm39) |
L71P |
probably damaging |
Het |
Adamts2 |
A |
T |
11: 50,666,201 (GRCm39) |
D399V |
probably damaging |
Het |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Alg11 |
T |
A |
8: 22,555,468 (GRCm39) |
V243D |
possibly damaging |
Het |
Ankrd27 |
T |
A |
7: 35,318,864 (GRCm39) |
L585Q |
probably damaging |
Het |
Armh4 |
A |
G |
14: 50,005,859 (GRCm39) |
|
probably benign |
Het |
Atp7a |
T |
A |
X: 105,153,447 (GRCm39) |
N1117K |
probably damaging |
Het |
Bltp3a |
T |
A |
17: 28,114,844 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
G |
A |
2: 24,528,669 (GRCm39) |
|
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,818,926 (GRCm39) |
M1210L |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,001,234 (GRCm39) |
|
probably benign |
Het |
Chd7 |
T |
C |
4: 8,852,670 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,559,315 (GRCm39) |
S1858T |
probably benign |
Het |
Cotl1 |
C |
T |
8: 120,567,063 (GRCm39) |
W26* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,492,635 (GRCm39) |
T3000A |
probably benign |
Het |
Dcp1a |
T |
A |
14: 30,206,551 (GRCm39) |
|
probably benign |
Het |
Ddhd2 |
A |
T |
8: 26,229,617 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Dnm3 |
G |
T |
1: 162,181,194 (GRCm39) |
Q162K |
probably benign |
Het |
Dpy19l2 |
G |
T |
9: 24,569,876 (GRCm39) |
A359D |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,676,746 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,897,873 (GRCm39) |
K1025R |
probably damaging |
Het |
Eml2 |
C |
A |
7: 18,918,797 (GRCm39) |
Y82* |
probably null |
Het |
Eml6 |
A |
G |
11: 29,742,367 (GRCm39) |
V1057A |
possibly damaging |
Het |
Eral1 |
A |
G |
11: 77,966,884 (GRCm39) |
|
probably benign |
Het |
Espl1 |
T |
C |
15: 102,220,976 (GRCm39) |
S911P |
probably benign |
Het |
Fbxo8 |
A |
G |
8: 57,043,296 (GRCm39) |
|
probably benign |
Het |
Flrt1 |
A |
T |
19: 7,074,475 (GRCm39) |
|
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,766,235 (GRCm39) |
|
probably benign |
Het |
G3bp1 |
G |
A |
11: 55,382,854 (GRCm39) |
G139D |
probably damaging |
Het |
Gabra6 |
C |
T |
11: 42,205,774 (GRCm39) |
V351I |
probably benign |
Het |
Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,890,177 (GRCm39) |
D702G |
possibly damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,085 (GRCm39) |
E291G |
possibly damaging |
Het |
Hectd3 |
T |
G |
4: 116,859,810 (GRCm39) |
V749G |
probably damaging |
Het |
Kash5 |
C |
T |
7: 44,849,675 (GRCm39) |
A83T |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,187,648 (GRCm39) |
I703N |
probably benign |
Het |
Kcnma1 |
G |
A |
14: 23,544,647 (GRCm39) |
T505I |
probably damaging |
Het |
Kctd11 |
A |
G |
11: 69,770,640 (GRCm39) |
C133R |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,672,880 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
C |
1: 193,017,335 (GRCm39) |
L842P |
probably damaging |
Het |
Ldlr |
T |
C |
9: 21,649,295 (GRCm39) |
|
probably benign |
Het |
Lipk |
G |
A |
19: 34,024,210 (GRCm39) |
R336H |
probably benign |
Het |
Lrrc24 |
T |
A |
15: 76,607,409 (GRCm39) |
D58V |
probably damaging |
Het |
Lrsam1 |
A |
G |
2: 32,845,197 (GRCm39) |
L106P |
probably damaging |
Het |
Milr1 |
G |
A |
11: 106,645,722 (GRCm39) |
W88* |
probably null |
Het |
Mmp10 |
A |
G |
9: 7,506,544 (GRCm39) |
D340G |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,391,600 (GRCm39) |
Y285F |
possibly damaging |
Het |
Ncoa3 |
A |
G |
2: 165,896,320 (GRCm39) |
T408A |
probably benign |
Het |
Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
Nfasc |
A |
G |
1: 132,529,721 (GRCm39) |
S814P |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,161,941 (GRCm39) |
V863A |
probably benign |
Het |
Nos1 |
C |
T |
5: 118,005,948 (GRCm39) |
P223S |
probably benign |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Or13c7 |
T |
A |
4: 43,854,512 (GRCm39) |
S68T |
probably damaging |
Het |
Or4c108 |
A |
T |
2: 88,803,740 (GRCm39) |
L165Q |
probably damaging |
Het |
Or5an6 |
A |
T |
19: 12,372,327 (GRCm39) |
E233D |
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,313,730 (GRCm39) |
S119P |
possibly damaging |
Het |
Osbpl5 |
T |
C |
7: 143,295,406 (GRCm39) |
|
probably null |
Het |
Otog |
C |
A |
7: 45,913,456 (GRCm39) |
|
probably null |
Het |
Pacs1 |
A |
T |
19: 5,206,402 (GRCm39) |
I261N |
possibly damaging |
Het |
Pbx1 |
G |
A |
1: 168,031,051 (GRCm39) |
T189I |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,697,309 (GRCm39) |
W124R |
probably damaging |
Het |
Phex |
C |
A |
X: 155,969,214 (GRCm39) |
D587Y |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,940,363 (GRCm39) |
D435E |
probably benign |
Het |
Plce1 |
A |
C |
19: 38,717,330 (GRCm39) |
K1373T |
probably damaging |
Het |
Prkcd |
G |
A |
14: 30,324,045 (GRCm39) |
A311V |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,232,374 (GRCm39) |
S421T |
probably benign |
Het |
Ptprs |
T |
C |
17: 56,743,087 (GRCm39) |
|
probably null |
Het |
Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
Rcc1 |
C |
A |
4: 132,060,226 (GRCm39) |
G393V |
probably damaging |
Het |
Reln |
T |
C |
5: 22,311,043 (GRCm39) |
N290S |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,430,175 (GRCm39) |
|
probably benign |
Het |
Rhpn1 |
C |
T |
15: 75,585,971 (GRCm39) |
T628I |
probably benign |
Het |
Rilp |
A |
G |
11: 75,401,747 (GRCm39) |
R176G |
probably benign |
Het |
Riok3 |
C |
T |
18: 12,288,284 (GRCm39) |
A487V |
probably benign |
Het |
Rnf224 |
T |
C |
2: 25,126,219 (GRCm39) |
T45A |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,219,513 (GRCm39) |
V137A |
probably benign |
Het |
Rps6ka1 |
C |
A |
4: 133,575,842 (GRCm39) |
Q693H |
probably benign |
Het |
Scn2a |
G |
T |
2: 65,566,118 (GRCm39) |
V1381F |
probably benign |
Het |
Scp2 |
T |
A |
4: 107,955,275 (GRCm39) |
H112L |
probably benign |
Het |
Sdk1 |
T |
C |
5: 141,984,502 (GRCm39) |
W696R |
probably damaging |
Het |
Slc26a7 |
C |
A |
4: 14,532,651 (GRCm39) |
V408F |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,285,008 (GRCm39) |
I332N |
probably benign |
Het |
Slc37a3 |
A |
G |
6: 39,314,172 (GRCm39) |
V480A |
probably benign |
Het |
Slc45a4 |
T |
A |
15: 73,453,755 (GRCm39) |
E674D |
probably benign |
Het |
Smpd3 |
T |
C |
8: 106,991,788 (GRCm39) |
E255G |
probably damaging |
Het |
Snx29 |
C |
T |
16: 11,478,417 (GRCm39) |
R658W |
probably damaging |
Het |
Sppl2a |
A |
T |
2: 126,762,256 (GRCm39) |
M275K |
probably benign |
Het |
Stac |
T |
C |
9: 111,464,089 (GRCm39) |
N59S |
probably damaging |
Het |
Stk25 |
A |
T |
1: 93,554,782 (GRCm39) |
L131Q |
probably damaging |
Het |
Tep1 |
C |
T |
14: 51,100,486 (GRCm39) |
|
probably benign |
Het |
Thbs1 |
C |
A |
2: 117,944,874 (GRCm39) |
N229K |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,506,186 (GRCm39) |
H89Q |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tradd |
T |
C |
8: 105,985,924 (GRCm39) |
N209S |
possibly damaging |
Het |
Trappc3l |
A |
T |
10: 33,974,928 (GRCm39) |
R119* |
probably null |
Het |
Trmt1l |
G |
A |
1: 151,333,205 (GRCm39) |
|
probably benign |
Het |
Ublcp1 |
G |
T |
11: 44,349,104 (GRCm39) |
Y243* |
probably null |
Het |
Usp24 |
C |
A |
4: 106,271,601 (GRCm39) |
C2158* |
probably null |
Het |
Usp34 |
A |
T |
11: 23,383,206 (GRCm39) |
K2088N |
probably damaging |
Het |
Vmn1r53 |
G |
C |
6: 90,200,925 (GRCm39) |
S133C |
probably damaging |
Het |
Vmn2r52 |
A |
G |
7: 9,893,327 (GRCm39) |
V604A |
probably damaging |
Het |
Vmn2r93 |
A |
G |
17: 18,525,061 (GRCm39) |
K240E |
probably benign |
Het |
Wdr13 |
T |
G |
X: 7,994,284 (GRCm39) |
D242A |
probably damaging |
Het |
Wwp1 |
C |
T |
4: 19,641,734 (GRCm39) |
|
probably null |
Het |
Zan |
G |
A |
5: 137,396,624 (GRCm39) |
H4311Y |
unknown |
Het |
Zc3h12c |
C |
A |
9: 52,055,383 (GRCm39) |
R123L |
possibly damaging |
Het |
Zfp125 |
A |
T |
12: 20,950,562 (GRCm39) |
|
noncoding transcript |
Het |
Zfp318 |
C |
T |
17: 46,707,739 (GRCm39) |
P266S |
probably benign |
Het |
|
Other mutations in Pcnx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Pcnx1
|
APN |
12 |
81,941,875 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00561:Pcnx1
|
APN |
12 |
82,042,827 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01066:Pcnx1
|
APN |
12 |
82,038,795 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01069:Pcnx1
|
APN |
12 |
81,964,918 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01082:Pcnx1
|
APN |
12 |
82,037,372 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01087:Pcnx1
|
APN |
12 |
82,042,113 (GRCm39) |
splice site |
probably benign |
|
IGL01145:Pcnx1
|
APN |
12 |
82,038,809 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01412:Pcnx1
|
APN |
12 |
81,953,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01477:Pcnx1
|
APN |
12 |
82,020,015 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01639:Pcnx1
|
APN |
12 |
81,997,094 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01815:Pcnx1
|
APN |
12 |
82,037,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01870:Pcnx1
|
APN |
12 |
82,022,667 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01902:Pcnx1
|
APN |
12 |
82,025,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01935:Pcnx1
|
APN |
12 |
81,964,590 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02141:Pcnx1
|
APN |
12 |
81,907,156 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02179:Pcnx1
|
APN |
12 |
81,980,493 (GRCm39) |
intron |
probably benign |
|
IGL02197:Pcnx1
|
APN |
12 |
82,039,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02197:Pcnx1
|
APN |
12 |
81,965,878 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02238:Pcnx1
|
APN |
12 |
81,964,688 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02430:Pcnx1
|
APN |
12 |
81,966,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02590:Pcnx1
|
APN |
12 |
82,041,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02992:Pcnx1
|
APN |
12 |
82,010,894 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03304:Pcnx1
|
APN |
12 |
82,028,803 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4515001:Pcnx1
|
UTSW |
12 |
82,038,561 (GRCm39) |
missense |
|
|
R0086:Pcnx1
|
UTSW |
12 |
82,038,832 (GRCm39) |
unclassified |
probably benign |
|
R0114:Pcnx1
|
UTSW |
12 |
82,042,869 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0240:Pcnx1
|
UTSW |
12 |
81,993,792 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0376:Pcnx1
|
UTSW |
12 |
82,021,353 (GRCm39) |
splice site |
probably benign |
|
R0377:Pcnx1
|
UTSW |
12 |
82,021,353 (GRCm39) |
splice site |
probably benign |
|
R0416:Pcnx1
|
UTSW |
12 |
82,021,240 (GRCm39) |
missense |
probably benign |
0.09 |
R0514:Pcnx1
|
UTSW |
12 |
82,041,884 (GRCm39) |
missense |
probably benign |
0.21 |
R0563:Pcnx1
|
UTSW |
12 |
81,964,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0569:Pcnx1
|
UTSW |
12 |
82,038,804 (GRCm39) |
missense |
probably benign |
0.08 |
R0626:Pcnx1
|
UTSW |
12 |
82,030,450 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0972:Pcnx1
|
UTSW |
12 |
81,960,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R1205:Pcnx1
|
UTSW |
12 |
82,003,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R1455:Pcnx1
|
UTSW |
12 |
82,020,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Pcnx1
|
UTSW |
12 |
81,965,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R1731:Pcnx1
|
UTSW |
12 |
82,037,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Pcnx1
|
UTSW |
12 |
82,030,258 (GRCm39) |
missense |
probably benign |
0.27 |
R1774:Pcnx1
|
UTSW |
12 |
82,022,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Pcnx1
|
UTSW |
12 |
81,965,416 (GRCm39) |
missense |
probably benign |
|
R1843:Pcnx1
|
UTSW |
12 |
82,027,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Pcnx1
|
UTSW |
12 |
81,965,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Pcnx1
|
UTSW |
12 |
81,965,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Pcnx1
|
UTSW |
12 |
81,980,448 (GRCm39) |
missense |
probably benign |
0.02 |
R2243:Pcnx1
|
UTSW |
12 |
81,965,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R2272:Pcnx1
|
UTSW |
12 |
82,042,088 (GRCm39) |
missense |
probably benign |
0.26 |
R2360:Pcnx1
|
UTSW |
12 |
81,996,960 (GRCm39) |
missense |
probably damaging |
0.99 |
R2926:Pcnx1
|
UTSW |
12 |
82,041,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R3607:Pcnx1
|
UTSW |
12 |
81,975,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R3781:Pcnx1
|
UTSW |
12 |
82,042,892 (GRCm39) |
missense |
probably benign |
0.00 |
R3782:Pcnx1
|
UTSW |
12 |
82,042,892 (GRCm39) |
missense |
probably benign |
0.00 |
R3806:Pcnx1
|
UTSW |
12 |
81,996,911 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3926:Pcnx1
|
UTSW |
12 |
82,005,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Pcnx1
|
UTSW |
12 |
81,965,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R4020:Pcnx1
|
UTSW |
12 |
81,965,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R4683:Pcnx1
|
UTSW |
12 |
82,033,446 (GRCm39) |
missense |
probably benign |
0.01 |
R4703:Pcnx1
|
UTSW |
12 |
81,941,938 (GRCm39) |
missense |
probably benign |
0.01 |
R4732:Pcnx1
|
UTSW |
12 |
82,042,525 (GRCm39) |
missense |
probably benign |
0.01 |
R4733:Pcnx1
|
UTSW |
12 |
82,042,525 (GRCm39) |
missense |
probably benign |
0.01 |
R4755:Pcnx1
|
UTSW |
12 |
81,997,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Pcnx1
|
UTSW |
12 |
81,965,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4897:Pcnx1
|
UTSW |
12 |
81,964,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Pcnx1
|
UTSW |
12 |
82,021,269 (GRCm39) |
missense |
probably benign |
0.10 |
R4934:Pcnx1
|
UTSW |
12 |
82,038,599 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4940:Pcnx1
|
UTSW |
12 |
81,964,567 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5079:Pcnx1
|
UTSW |
12 |
82,025,863 (GRCm39) |
nonsense |
probably null |
|
R5087:Pcnx1
|
UTSW |
12 |
82,041,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R5284:Pcnx1
|
UTSW |
12 |
81,965,803 (GRCm39) |
missense |
probably benign |
0.02 |
R5287:Pcnx1
|
UTSW |
12 |
82,028,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Pcnx1
|
UTSW |
12 |
81,907,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R5505:Pcnx1
|
UTSW |
12 |
81,996,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5538:Pcnx1
|
UTSW |
12 |
81,907,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R5632:Pcnx1
|
UTSW |
12 |
81,964,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Pcnx1
|
UTSW |
12 |
81,941,803 (GRCm39) |
missense |
possibly damaging |
0.45 |
R5841:Pcnx1
|
UTSW |
12 |
81,965,429 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6275:Pcnx1
|
UTSW |
12 |
81,965,381 (GRCm39) |
missense |
probably benign |
0.34 |
R6508:Pcnx1
|
UTSW |
12 |
81,959,479 (GRCm39) |
missense |
probably damaging |
0.98 |
R6532:Pcnx1
|
UTSW |
12 |
82,027,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6634:Pcnx1
|
UTSW |
12 |
81,964,656 (GRCm39) |
nonsense |
probably null |
|
R6753:Pcnx1
|
UTSW |
12 |
82,011,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6776:Pcnx1
|
UTSW |
12 |
82,009,496 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6778:Pcnx1
|
UTSW |
12 |
81,965,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6890:Pcnx1
|
UTSW |
12 |
82,018,150 (GRCm39) |
missense |
probably benign |
0.09 |
R6894:Pcnx1
|
UTSW |
12 |
82,034,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6927:Pcnx1
|
UTSW |
12 |
81,964,586 (GRCm39) |
missense |
probably benign |
0.37 |
R7173:Pcnx1
|
UTSW |
12 |
81,999,777 (GRCm39) |
splice site |
probably null |
|
R7196:Pcnx1
|
UTSW |
12 |
82,042,312 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7316:Pcnx1
|
UTSW |
12 |
82,042,323 (GRCm39) |
missense |
probably benign |
0.16 |
R7559:Pcnx1
|
UTSW |
12 |
82,039,896 (GRCm39) |
missense |
unknown |
|
R7635:Pcnx1
|
UTSW |
12 |
81,965,899 (GRCm39) |
missense |
|
|
R7669:Pcnx1
|
UTSW |
12 |
82,037,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R8021:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8049:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8078:Pcnx1
|
UTSW |
12 |
82,022,054 (GRCm39) |
missense |
|
|
R8093:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8104:Pcnx1
|
UTSW |
12 |
82,030,385 (GRCm39) |
nonsense |
probably null |
|
R8108:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8109:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8131:Pcnx1
|
UTSW |
12 |
81,965,292 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8136:Pcnx1
|
UTSW |
12 |
81,964,780 (GRCm39) |
missense |
probably benign |
|
R8153:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8156:Pcnx1
|
UTSW |
12 |
81,965,593 (GRCm39) |
nonsense |
probably null |
|
R8202:Pcnx1
|
UTSW |
12 |
81,941,821 (GRCm39) |
missense |
probably benign |
0.00 |
R8362:Pcnx1
|
UTSW |
12 |
82,013,830 (GRCm39) |
missense |
|
|
R8515:Pcnx1
|
UTSW |
12 |
82,009,490 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8803:Pcnx1
|
UTSW |
12 |
82,039,925 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8820:Pcnx1
|
UTSW |
12 |
82,020,022 (GRCm39) |
missense |
|
|
R8828:Pcnx1
|
UTSW |
12 |
82,042,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Pcnx1
|
UTSW |
12 |
82,018,158 (GRCm39) |
missense |
probably damaging |
0.96 |
R8964:Pcnx1
|
UTSW |
12 |
82,039,812 (GRCm39) |
missense |
|
|
R9152:Pcnx1
|
UTSW |
12 |
82,022,589 (GRCm39) |
missense |
|
|
R9256:Pcnx1
|
UTSW |
12 |
82,020,047 (GRCm39) |
missense |
|
|
R9287:Pcnx1
|
UTSW |
12 |
82,042,323 (GRCm39) |
missense |
probably benign |
0.07 |
R9289:Pcnx1
|
UTSW |
12 |
82,028,853 (GRCm39) |
missense |
|
|
R9414:Pcnx1
|
UTSW |
12 |
81,964,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R9445:Pcnx1
|
UTSW |
12 |
81,964,981 (GRCm39) |
missense |
probably damaging |
0.98 |
R9595:Pcnx1
|
UTSW |
12 |
81,965,688 (GRCm39) |
missense |
|
|
R9600:Pcnx1
|
UTSW |
12 |
82,030,435 (GRCm39) |
missense |
|
|
R9620:Pcnx1
|
UTSW |
12 |
81,996,960 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Pcnx1
|
UTSW |
12 |
81,964,501 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Pcnx1
|
UTSW |
12 |
81,965,451 (GRCm39) |
missense |
|
|
Z1177:Pcnx1
|
UTSW |
12 |
81,964,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCACACACGCTGCCATTTTACC -3'
(R):5'- AGACAGTATGCGCTCCGACAAC -3'
Sequencing Primer
(F):5'- TCCCAAGTGCATGGAGATTG -3'
(R):5'- CAACTCATTTGAACAGGGTGC -3'
|
Posted On |
2013-07-11 |