Incidental Mutation 'R4934:Pcnx1'
| ID |
380841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcnx1
|
| Ensembl Gene |
ENSMUSG00000021140 |
| Gene Name |
pecanex 1 |
| Synonyms |
3526401J03Rik, 2900024E21Rik, Pcnx |
| MMRRC Submission |
042534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81906797-82047698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82038599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 1955
(V1955I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021567]
[ENSMUST00000221721]
[ENSMUST00000222005]
[ENSMUST00000222468]
|
| AlphaFold |
Q9QYC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021567
AA Change: V1961I
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021567
Gene: ENSMUSG00000021140
AA Change: V1961I
| 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 |
noncoding transcript
Transcript: ENSMUST00000221472
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221675
AA Change: V1322I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221721
AA Change: V1955I
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222468
|
| Meta Mutation Damage Score |
0.1032 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
| Validation Efficiency |
99% (134/135) |
| 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: 125 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931428L18Rik |
A |
T |
1: 31,261,580 (GRCm39) |
|
probably benign |
Het |
| Acy1 |
T |
A |
9: 106,312,321 (GRCm39) |
I14F |
probably null |
Het |
| Ago1 |
T |
C |
4: 126,342,652 (GRCm39) |
D193G |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,791 (GRCm39) |
H201L |
probably damaging |
Het |
| Armc9 |
G |
A |
1: 86,140,801 (GRCm39) |
D63N |
probably damaging |
Het |
| Asb17 |
A |
T |
3: 153,556,336 (GRCm39) |
I148F |
possibly damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,059,447 (GRCm39) |
E329G |
possibly damaging |
Het |
| Atp2a1 |
T |
A |
7: 126,052,600 (GRCm39) |
D373V |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,357,380 (GRCm39) |
Y603* |
probably null |
Het |
| Cbln4 |
G |
A |
2: 171,880,901 (GRCm39) |
T131I |
probably damaging |
Het |
| Ccdc126 |
A |
G |
6: 49,311,181 (GRCm39) |
E63G |
probably damaging |
Het |
| Ccl4 |
T |
A |
11: 83,553,504 (GRCm39) |
S6T |
unknown |
Het |
| Ccnb1 |
A |
T |
13: 100,918,209 (GRCm39) |
I146K |
possibly damaging |
Het |
| Ccr8 |
T |
A |
9: 119,923,815 (GRCm39) |
M310K |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,875,672 (GRCm39) |
|
probably null |
Het |
| Cd46 |
G |
C |
1: 194,765,107 (GRCm39) |
|
probably benign |
Het |
| Cebpb |
A |
G |
2: 167,531,005 (GRCm39) |
M22V |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,453,016 (GRCm39) |
I352T |
possibly damaging |
Het |
| Cep295 |
T |
G |
9: 15,244,456 (GRCm39) |
E1333D |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,864,613 (GRCm39) |
H30R |
probably benign |
Het |
| Chrm3 |
A |
G |
13: 9,927,450 (GRCm39) |
Y529H |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,523,692 (GRCm39) |
Y98H |
probably damaging |
Het |
| Clvs1 |
C |
T |
4: 9,424,216 (GRCm39) |
H221Y |
possibly damaging |
Het |
| Col3a1 |
G |
A |
1: 45,379,112 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
G |
16: 30,079,344 (GRCm39) |
N119T |
probably damaging |
Het |
| Cspg4b |
C |
A |
13: 113,504,882 (GRCm39) |
Q2004K |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,494,721 (GRCm39) |
Q109H |
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,553,954 (GRCm39) |
V221A |
possibly damaging |
Het |
| Cyp2e1 |
T |
G |
7: 140,350,030 (GRCm39) |
N238K |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,247,669 (GRCm39) |
A1693V |
probably damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,956,683 (GRCm39) |
Q281R |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,745,543 (GRCm39) |
G318S |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,950,789 (GRCm39) |
*597W |
probably null |
Het |
| F13a1 |
G |
T |
13: 37,061,736 (GRCm39) |
P676T |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,521,262 (GRCm39) |
H267R |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,427 (GRCm39) |
R228C |
probably damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,480,705 (GRCm39) |
N325S |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,210 (GRCm39) |
|
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,496,272 (GRCm39) |
V345E |
probably damaging |
Het |
| Fzd8 |
GAAAAACTCA |
GA |
18: 9,214,492 (GRCm39) |
|
probably null |
Het |
| Hand1 |
T |
C |
11: 57,722,078 (GRCm39) |
R179G |
possibly damaging |
Het |
| Hk1 |
G |
T |
10: 62,194,165 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,598,286 (GRCm39) |
L1672R |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,775 (GRCm39) |
Q297* |
probably null |
Het |
| Iars1 |
T |
A |
13: 49,871,460 (GRCm39) |
F699I |
probably benign |
Het |
| Ift140 |
G |
A |
17: 25,267,462 (GRCm39) |
G620E |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Inpp4a |
T |
G |
1: 37,426,922 (GRCm39) |
Y628D |
possibly damaging |
Het |
| Itk |
C |
T |
11: 46,280,152 (GRCm39) |
R29H |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,644 (GRCm39) |
F413S |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,250,231 (GRCm39) |
Y4* |
probably null |
Het |
| Lonrf1 |
C |
A |
8: 36,701,103 (GRCm39) |
C369F |
probably damaging |
Het |
| Magohb |
A |
T |
6: 131,261,558 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,490,787 (GRCm39) |
R215C |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,339,548 (GRCm39) |
S274R |
possibly damaging |
Het |
| Masp1 |
T |
G |
16: 23,283,826 (GRCm39) |
M470L |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,576,472 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
A |
11: 75,562,676 (GRCm39) |
V981E |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,411 (GRCm39) |
I27K |
probably damaging |
Het |
| Nkd2 |
C |
A |
13: 73,970,841 (GRCm39) |
G247V |
probably damaging |
Het |
| Nucb2 |
A |
C |
7: 116,139,199 (GRCm39) |
Q398P |
possibly damaging |
Het |
| Numa1 |
T |
A |
7: 101,660,064 (GRCm39) |
D376E |
probably benign |
Het |
| Or2w1 |
G |
A |
13: 21,317,241 (GRCm39) |
V99I |
probably benign |
Het |
| Or4c101 |
C |
T |
2: 88,389,930 (GRCm39) |
T39I |
probably benign |
Het |
| Or4n5 |
T |
C |
14: 50,133,206 (GRCm39) |
T18A |
probably benign |
Het |
| Or4p23 |
A |
T |
2: 88,576,398 (GRCm39) |
L278* |
probably null |
Het |
| Or4q3 |
C |
T |
14: 50,583,345 (GRCm39) |
V185M |
probably damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,896 (GRCm39) |
N170Y |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,842,129 (GRCm39) |
I221F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,472,549 (GRCm39) |
T616I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,676 (GRCm39) |
Y398H |
probably damaging |
Het |
| Plekha3 |
T |
A |
2: 76,510,571 (GRCm39) |
D35E |
possibly damaging |
Het |
| Pnpla2 |
T |
G |
7: 141,038,085 (GRCm39) |
N184K |
probably damaging |
Het |
| Polr3a |
C |
T |
14: 24,502,692 (GRCm39) |
E1216K |
probably benign |
Het |
| Ppp1r21 |
A |
T |
17: 88,852,803 (GRCm39) |
S61C |
probably damaging |
Het |
| Ppp1r21 |
G |
C |
17: 88,852,804 (GRCm39) |
S61T |
probably damaging |
Het |
| Prdm13 |
G |
T |
4: 21,678,223 (GRCm39) |
|
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,487,879 (GRCm39) |
N201S |
probably benign |
Het |
| Rab11fip2 |
A |
G |
19: 59,924,290 (GRCm39) |
L338S |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,575,102 (GRCm39) |
N546S |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,359 (GRCm39) |
D472G |
possibly damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,346 (GRCm39) |
I277T |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,865,579 (GRCm39) |
V590I |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,824,736 (GRCm39) |
V864A |
probably benign |
Het |
| Rnpc3 |
G |
A |
3: 113,418,628 (GRCm39) |
H107Y |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,767,520 (GRCm39) |
D2927E |
probably damaging |
Het |
| Samd9l |
G |
A |
6: 3,375,621 (GRCm39) |
Q547* |
probably null |
Het |
| Scaper |
T |
C |
9: 55,716,459 (GRCm39) |
E724G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,409 (GRCm39) |
V1016I |
probably damaging |
Het |
| Selenoo |
T |
A |
15: 88,982,970 (GRCm39) |
M499K |
probably damaging |
Het |
| Sema4a |
T |
A |
3: 88,345,568 (GRCm39) |
D505V |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,679,310 (GRCm39) |
M863T |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,929,940 (GRCm39) |
C414R |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,224,942 (GRCm39) |
D361G |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,261,858 (GRCm39) |
Y20H |
probably benign |
Het |
| Slx4ip |
A |
T |
2: 136,910,267 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,280,341 (GRCm39) |
E538V |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,442,486 (GRCm39) |
L1994I |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stap2 |
A |
G |
17: 56,304,901 (GRCm39) |
S294P |
possibly damaging |
Het |
| Stat1 |
C |
A |
1: 52,193,082 (GRCm39) |
Y651* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,946,046 (GRCm39) |
T373A |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,318 (GRCm39) |
S201G |
probably damaging |
Het |
| Tdpoz3 |
G |
A |
3: 93,734,287 (GRCm39) |
E321K |
probably benign |
Het |
| Thumpd1 |
T |
C |
7: 119,316,002 (GRCm39) |
T316A |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,850,072 (GRCm39) |
C866S |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,401 (GRCm39) |
I148F |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,205,568 (GRCm39) |
|
probably benign |
Het |
| Tpm1 |
T |
C |
9: 66,935,331 (GRCm39) |
|
probably null |
Het |
| Traf3ip2 |
T |
A |
10: 39,502,096 (GRCm39) |
S81R |
probably damaging |
Het |
| Trim29 |
T |
A |
9: 43,222,265 (GRCm39) |
N31K |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,467,433 (GRCm39) |
P563S |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,283,743 (GRCm39) |
Y2418H |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,766 (GRCm39) |
D267V |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,052 (GRCm39) |
C305S |
probably benign |
Het |
| Yme1l1 |
C |
A |
2: 23,058,333 (GRCm39) |
S155* |
probably null |
Het |
| Ythdf3 |
T |
A |
3: 16,258,220 (GRCm39) |
H126Q |
probably damaging |
Het |
| Zbtb32 |
A |
T |
7: 30,290,678 (GRCm39) |
C206S |
possibly damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,593,045 (GRCm39) |
V455A |
probably damaging |
Het |
| Zfp518a |
A |
T |
19: 40,902,707 (GRCm39) |
I879F |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,012 (GRCm39) |
Y203N |
possibly damaging |
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 |
|
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 |
|
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'- GCAGGCTATTTGCTCTCCATG -3'
(R):5'- GTTCCGGATGTTTCCCAAGC -3'
Sequencing Primer
(F):5'- AGGCTATTTGCTCTCCATGAGGAC -3'
(R):5'- CCGGATGTTTCCCAAGCTGATTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation