Incidental Mutation 'R1678:Plch1'
ID |
188252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch1
|
Ensembl Gene |
ENSMUSG00000036834 |
Gene Name |
phospholipase C, eta 1 |
Synonyms |
Plcl3, PLCeta1 |
MMRRC Submission |
039714-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R1678 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
63603655-63806893 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63648115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 419
(S419P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124463
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048134]
[ENSMUST00000059973]
[ENSMUST00000084105]
[ENSMUST00000159676]
[ENSMUST00000160638]
[ENSMUST00000162269]
[ENSMUST00000177143]
[ENSMUST00000175947]
|
AlphaFold |
Q4KWH5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048134
AA Change: S401P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047693 Gene: ENSMUSG00000036834 AA Change: S401P
Domain | Start | End | E-Value | Type |
PH
|
3 |
112 |
2.37e-6 |
SMART |
EFh
|
128 |
156 |
2.41e-4 |
SMART |
EFh
|
164 |
193 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
198 |
280 |
2.2e-26 |
PFAM |
PLCXc
|
281 |
426 |
3.13e-71 |
SMART |
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
low complexity region
|
564 |
581 |
N/A |
INTRINSIC |
PLCYc
|
583 |
696 |
3.4e-49 |
SMART |
C2
|
715 |
823 |
5.47e-22 |
SMART |
low complexity region
|
979 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1435 |
N/A |
INTRINSIC |
low complexity region
|
1543 |
1557 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059973
AA Change: S419P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058524 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
1.1e-8 |
SMART |
EFh
|
146 |
174 |
1.1e-6 |
SMART |
EFh
|
182 |
211 |
7.6e-5 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
4.5e-24 |
PFAM |
PLCXc
|
299 |
444 |
1.6e-73 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
PLCYc
|
601 |
714 |
1.7e-51 |
SMART |
C2
|
733 |
841 |
3.7e-24 |
SMART |
low complexity region
|
1017 |
1035 |
N/A |
INTRINSIC |
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
low complexity region
|
1458 |
1473 |
N/A |
INTRINSIC |
low complexity region
|
1581 |
1595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084105
AA Change: S419P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000081122 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
2.37e-6 |
SMART |
EFh
|
146 |
174 |
2.41e-4 |
SMART |
EFh
|
182 |
211 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
2.4e-27 |
PFAM |
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
C2
|
734 |
842 |
5.47e-22 |
SMART |
low complexity region
|
1018 |
1036 |
N/A |
INTRINSIC |
low complexity region
|
1118 |
1130 |
N/A |
INTRINSIC |
low complexity region
|
1459 |
1474 |
N/A |
INTRINSIC |
low complexity region
|
1582 |
1596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159676
AA Change: S419P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124632 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
2.37e-6 |
SMART |
EFh
|
146 |
174 |
2.41e-4 |
SMART |
EFh
|
182 |
211 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
1.8e-26 |
PFAM |
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160638
AA Change: S419P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123921 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
2.37e-6 |
SMART |
EFh
|
146 |
174 |
2.41e-4 |
SMART |
EFh
|
182 |
211 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
5.3e-28 |
PFAM |
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162269
AA Change: S419P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124463 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
2.37e-6 |
SMART |
EFh
|
146 |
174 |
2.41e-4 |
SMART |
EFh
|
182 |
211 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
1.7e-26 |
PFAM |
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
583 |
600 |
N/A |
INTRINSIC |
PLCYc
|
602 |
715 |
3.4e-49 |
SMART |
C2
|
734 |
842 |
5.47e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177143
AA Change: S431P
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000135424 Gene: ENSMUSG00000036834 AA Change: S431P
Domain | Start | End | E-Value | Type |
PH
|
33 |
142 |
2.37e-6 |
SMART |
EFh
|
158 |
186 |
2.41e-4 |
SMART |
EFh
|
194 |
223 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
228 |
310 |
2.3e-26 |
PFAM |
PLCXc
|
311 |
456 |
3.13e-71 |
SMART |
low complexity region
|
470 |
483 |
N/A |
INTRINSIC |
low complexity region
|
594 |
611 |
N/A |
INTRINSIC |
PLCYc
|
613 |
726 |
3.4e-49 |
SMART |
C2
|
745 |
853 |
5.47e-22 |
SMART |
low complexity region
|
1009 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1109 |
1121 |
N/A |
INTRINSIC |
low complexity region
|
1450 |
1465 |
N/A |
INTRINSIC |
low complexity region
|
1573 |
1587 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175947
AA Change: S419P
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000135353 Gene: ENSMUSG00000036834 AA Change: S419P
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
2.37e-6 |
SMART |
EFh
|
146 |
174 |
2.41e-4 |
SMART |
EFh
|
182 |
211 |
1.54e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
1.2e-26 |
PFAM |
PLCXc
|
299 |
444 |
3.13e-71 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
582 |
599 |
N/A |
INTRINSIC |
PLCYc
|
601 |
714 |
3.4e-49 |
SMART |
C2
|
733 |
841 |
5.47e-22 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
C |
17: 24,554,594 (GRCm39) |
I120S |
probably benign |
Het |
Abcb5 |
A |
C |
12: 118,929,064 (GRCm39) |
|
probably benign |
Het |
Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
Acnat2 |
T |
A |
4: 49,380,568 (GRCm39) |
Y270F |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Ankib1 |
A |
G |
5: 3,756,301 (GRCm39) |
I548T |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,764,892 (GRCm39) |
|
probably null |
Het |
Asb17 |
C |
T |
3: 153,550,004 (GRCm39) |
S12F |
probably damaging |
Het |
Atad2b |
G |
A |
12: 5,015,899 (GRCm39) |
V542I |
possibly damaging |
Het |
Atxn7 |
T |
C |
14: 14,096,239 (GRCm38) |
F515L |
probably damaging |
Het |
Bicc1 |
A |
G |
10: 70,779,348 (GRCm39) |
L680P |
probably damaging |
Het |
Bpifb6 |
G |
A |
2: 153,750,562 (GRCm39) |
R351H |
probably damaging |
Het |
C4b |
A |
G |
17: 34,962,624 (GRCm39) |
F26S |
probably benign |
Het |
Cadps |
A |
G |
14: 12,517,802 (GRCm38) |
|
probably null |
Het |
Capza1 |
G |
T |
3: 104,771,669 (GRCm39) |
S9* |
probably null |
Het |
Ccl11 |
C |
T |
11: 81,948,866 (GRCm39) |
P25L |
probably damaging |
Het |
Cdyl |
A |
T |
13: 36,040,872 (GRCm39) |
K306N |
probably damaging |
Het |
Cnga3 |
T |
C |
1: 37,300,579 (GRCm39) |
V471A |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,464,380 (GRCm39) |
K983E |
unknown |
Het |
Cp |
A |
C |
3: 20,026,881 (GRCm39) |
K436N |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,968,252 (GRCm39) |
D3125V |
possibly damaging |
Het |
Daw1 |
A |
T |
1: 83,161,087 (GRCm39) |
N143I |
probably damaging |
Het |
Dmd |
T |
A |
X: 84,018,368 (GRCm39) |
I3067N |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,656,193 (GRCm39) |
V105A |
probably damaging |
Het |
Dnah11 |
T |
G |
12: 117,897,580 (GRCm39) |
N3550T |
possibly damaging |
Het |
Dnm2 |
T |
C |
9: 21,378,828 (GRCm39) |
V129A |
possibly damaging |
Het |
Dync1h1 |
A |
T |
12: 110,632,096 (GRCm39) |
|
probably null |
Het |
Dync2i1 |
A |
G |
12: 116,189,590 (GRCm39) |
S640P |
probably damaging |
Het |
Efemp1 |
G |
A |
11: 28,866,942 (GRCm39) |
E325K |
probably benign |
Het |
Enox1 |
A |
G |
14: 77,815,096 (GRCm39) |
T85A |
probably benign |
Het |
Faim2 |
C |
A |
15: 99,418,217 (GRCm39) |
V123F |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,830,350 (GRCm39) |
|
probably null |
Het |
Fign |
T |
C |
2: 63,810,718 (GRCm39) |
E184G |
probably damaging |
Het |
Fnd3c2 |
T |
C |
X: 105,281,305 (GRCm39) |
T799A |
probably benign |
Het |
Frem2 |
T |
C |
3: 53,427,359 (GRCm39) |
D2931G |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,816,689 (GRCm39) |
T4141A |
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,344,705 (GRCm39) |
M546K |
probably benign |
Het |
Gm21775 |
G |
A |
Y: 10,553,867 (GRCm39) |
V139M |
probably damaging |
Het |
Gpr83 |
G |
T |
9: 14,778,145 (GRCm39) |
V172F |
probably damaging |
Het |
Itprid1 |
G |
T |
6: 55,945,499 (GRCm39) |
C740F |
probably benign |
Het |
Jmjd4 |
A |
G |
11: 59,344,438 (GRCm39) |
Y179C |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,903,281 (GRCm39) |
L143P |
probably damaging |
Het |
Klhl41 |
T |
C |
2: 69,501,283 (GRCm39) |
V248A |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,117,150 (GRCm39) |
Y2482H |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,360,885 (GRCm39) |
|
probably null |
Het |
Lclat1 |
G |
A |
17: 73,503,715 (GRCm39) |
G162R |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,917,305 (GRCm39) |
V26A |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,663,050 (GRCm39) |
D107V |
probably damaging |
Het |
Metap1d |
T |
A |
2: 71,355,121 (GRCm39) |
V304D |
possibly damaging |
Het |
Naca |
A |
G |
10: 127,879,395 (GRCm39) |
|
probably benign |
Het |
Napg |
T |
C |
18: 63,117,143 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,299,493 (GRCm39) |
F7L |
probably benign |
Het |
Ndst2 |
T |
C |
14: 20,774,582 (GRCm39) |
T825A |
probably benign |
Het |
Nsun2 |
T |
C |
13: 69,775,222 (GRCm39) |
I353T |
probably damaging |
Het |
Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
Nxf3 |
T |
C |
X: 134,976,270 (GRCm39) |
D407G |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,870 (GRCm39) |
V181E |
probably damaging |
Het |
Or8c13 |
A |
T |
9: 38,091,933 (GRCm39) |
F62Y |
possibly damaging |
Het |
Osbpl3 |
A |
C |
6: 50,313,193 (GRCm39) |
|
probably null |
Het |
P2rx3 |
T |
C |
2: 84,852,811 (GRCm39) |
T172A |
possibly damaging |
Het |
Pcdh10 |
G |
T |
3: 45,336,316 (GRCm39) |
E877* |
probably null |
Het |
Pcdhb9 |
A |
T |
18: 37,534,682 (GRCm39) |
K225N |
probably damaging |
Het |
Prex2 |
T |
G |
1: 11,355,313 (GRCm39) |
I1538S |
possibly damaging |
Het |
Prss59 |
C |
A |
6: 40,906,453 (GRCm39) |
|
probably benign |
Het |
Rasl10a |
A |
G |
11: 5,009,815 (GRCm39) |
E121G |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,865,372 (GRCm39) |
T754A |
probably benign |
Het |
Rictor |
T |
C |
15: 6,785,952 (GRCm39) |
V156A |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,815,579 (GRCm39) |
Y104N |
probably damaging |
Het |
Sctr |
G |
T |
1: 119,964,169 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,800,525 (GRCm39) |
Y2247H |
probably damaging |
Het |
Sqle |
C |
T |
15: 59,196,358 (GRCm39) |
R384W |
probably damaging |
Het |
Srcin1 |
C |
A |
11: 97,409,470 (GRCm39) |
R1163L |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,128,154 (GRCm39) |
Y125C |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,037,960 (GRCm39) |
S1535P |
probably benign |
Het |
Sumf2 |
A |
G |
5: 129,883,557 (GRCm39) |
E125G |
possibly damaging |
Het |
Tas2r144 |
A |
T |
6: 42,192,490 (GRCm39) |
I77F |
probably benign |
Het |
Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
Tcp1 |
T |
A |
17: 13,139,310 (GRCm39) |
N212K |
probably benign |
Het |
Ttc7 |
G |
T |
17: 87,669,329 (GRCm39) |
G659C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,691,903 (GRCm39) |
|
probably null |
Het |
Ubtf |
A |
T |
11: 102,199,804 (GRCm39) |
D440E |
probably benign |
Het |
Usp30 |
A |
G |
5: 114,259,207 (GRCm39) |
D428G |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
G |
A |
7: 41,513,480 (GRCm39) |
H388Y |
probably benign |
Het |
Zbtb49 |
T |
C |
5: 38,371,038 (GRCm39) |
D281G |
probably damaging |
Het |
Zfp248 |
A |
G |
6: 118,406,765 (GRCm39) |
S174P |
probably benign |
Het |
Zswim9 |
T |
C |
7: 13,011,337 (GRCm39) |
T4A |
probably benign |
Het |
|
Other mutations in Plch1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Plch1
|
APN |
3 |
63,639,150 (GRCm39) |
splice site |
probably null |
|
IGL01542:Plch1
|
APN |
3 |
63,639,070 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01999:Plch1
|
APN |
3 |
63,660,728 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02153:Plch1
|
APN |
3 |
63,688,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02203:Plch1
|
APN |
3 |
63,606,160 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02220:Plch1
|
APN |
3 |
63,606,382 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02259:Plch1
|
APN |
3 |
63,630,170 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02268:Plch1
|
APN |
3 |
63,606,704 (GRCm39) |
makesense |
probably null |
|
IGL02411:Plch1
|
APN |
3 |
63,605,177 (GRCm39) |
splice site |
probably null |
|
IGL02472:Plch1
|
APN |
3 |
63,609,270 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:Plch1
|
APN |
3 |
63,660,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02503:Plch1
|
APN |
3 |
63,605,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02800:Plch1
|
APN |
3 |
63,605,899 (GRCm39) |
missense |
probably benign |
0.21 |
IGL03167:Plch1
|
APN |
3 |
63,630,165 (GRCm39) |
splice site |
probably benign |
|
IGL03182:Plch1
|
APN |
3 |
63,610,015 (GRCm39) |
nonsense |
probably null |
|
IGL03197:Plch1
|
APN |
3 |
63,660,591 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03251:Plch1
|
APN |
3 |
63,691,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
BB009:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
BB019:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
R0335:Plch1
|
UTSW |
3 |
63,618,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Plch1
|
UTSW |
3 |
63,660,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Plch1
|
UTSW |
3 |
63,606,640 (GRCm39) |
missense |
probably benign |
0.23 |
R0687:Plch1
|
UTSW |
3 |
63,623,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Plch1
|
UTSW |
3 |
63,609,974 (GRCm39) |
intron |
probably benign |
|
R0883:Plch1
|
UTSW |
3 |
63,660,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Plch1
|
UTSW |
3 |
63,604,954 (GRCm39) |
missense |
probably benign |
0.37 |
R1738:Plch1
|
UTSW |
3 |
63,626,659 (GRCm39) |
missense |
probably benign |
0.12 |
R1929:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Plch1
|
UTSW |
3 |
63,662,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R2078:Plch1
|
UTSW |
3 |
63,609,364 (GRCm39) |
missense |
probably benign |
0.01 |
R2112:Plch1
|
UTSW |
3 |
63,630,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Plch1
|
UTSW |
3 |
63,628,655 (GRCm39) |
missense |
probably benign |
0.00 |
R2165:Plch1
|
UTSW |
3 |
63,605,903 (GRCm39) |
missense |
probably benign |
0.01 |
R2259:Plch1
|
UTSW |
3 |
63,605,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2271:Plch1
|
UTSW |
3 |
63,651,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R3110:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Plch1
|
UTSW |
3 |
63,616,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R3407:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
R3408:Plch1
|
UTSW |
3 |
63,606,768 (GRCm39) |
unclassified |
probably benign |
|
R3791:Plch1
|
UTSW |
3 |
63,606,944 (GRCm39) |
missense |
probably benign |
|
R3793:Plch1
|
UTSW |
3 |
63,605,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R3928:Plch1
|
UTSW |
3 |
63,675,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Plch1
|
UTSW |
3 |
63,618,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Plch1
|
UTSW |
3 |
63,778,180 (GRCm39) |
start gained |
probably benign |
|
R4223:Plch1
|
UTSW |
3 |
63,609,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R4491:Plch1
|
UTSW |
3 |
63,648,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4589:Plch1
|
UTSW |
3 |
63,688,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R4656:Plch1
|
UTSW |
3 |
63,611,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Plch1
|
UTSW |
3 |
63,606,917 (GRCm39) |
splice site |
probably null |
|
R4716:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Plch1
|
UTSW |
3 |
63,660,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Plch1
|
UTSW |
3 |
63,648,264 (GRCm39) |
intron |
probably benign |
|
R5058:Plch1
|
UTSW |
3 |
63,630,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5092:Plch1
|
UTSW |
3 |
63,606,131 (GRCm39) |
missense |
probably benign |
0.02 |
R5093:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R5210:Plch1
|
UTSW |
3 |
63,607,199 (GRCm39) |
critical splice donor site |
probably null |
|
R5368:Plch1
|
UTSW |
3 |
63,609,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5373:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
R5374:Plch1
|
UTSW |
3 |
63,605,499 (GRCm39) |
missense |
probably benign |
0.01 |
R5501:Plch1
|
UTSW |
3 |
63,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Plch1
|
UTSW |
3 |
63,648,108 (GRCm39) |
missense |
probably benign |
0.35 |
R5738:Plch1
|
UTSW |
3 |
63,681,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R5835:Plch1
|
UTSW |
3 |
63,604,943 (GRCm39) |
missense |
probably benign |
|
R6106:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6107:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6108:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6110:Plch1
|
UTSW |
3 |
63,606,279 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6116:Plch1
|
UTSW |
3 |
63,609,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R6147:Plch1
|
UTSW |
3 |
63,630,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R6195:Plch1
|
UTSW |
3 |
63,648,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6315:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6316:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6317:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6318:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6324:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6325:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6326:Plch1
|
UTSW |
3 |
63,688,811 (GRCm39) |
nonsense |
probably null |
|
R6479:Plch1
|
UTSW |
3 |
63,651,931 (GRCm39) |
missense |
probably benign |
0.06 |
R6544:Plch1
|
UTSW |
3 |
63,758,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Plch1
|
UTSW |
3 |
63,662,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R6829:Plch1
|
UTSW |
3 |
63,604,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R6891:Plch1
|
UTSW |
3 |
63,605,504 (GRCm39) |
missense |
probably benign |
|
R6893:Plch1
|
UTSW |
3 |
63,660,562 (GRCm39) |
nonsense |
probably null |
|
R6921:Plch1
|
UTSW |
3 |
63,615,155 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7298:Plch1
|
UTSW |
3 |
63,623,458 (GRCm39) |
nonsense |
probably null |
|
R7396:Plch1
|
UTSW |
3 |
63,606,375 (GRCm39) |
missense |
probably benign |
0.00 |
R7420:Plch1
|
UTSW |
3 |
63,630,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7566:Plch1
|
UTSW |
3 |
63,688,663 (GRCm39) |
splice site |
probably null |
|
R7572:Plch1
|
UTSW |
3 |
63,648,105 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7649:Plch1
|
UTSW |
3 |
63,605,590 (GRCm39) |
nonsense |
probably null |
|
R7696:Plch1
|
UTSW |
3 |
63,662,726 (GRCm39) |
missense |
probably benign |
|
R7851:Plch1
|
UTSW |
3 |
63,605,855 (GRCm39) |
missense |
probably damaging |
0.99 |
R7853:Plch1
|
UTSW |
3 |
63,681,068 (GRCm39) |
missense |
probably benign |
0.44 |
R7932:Plch1
|
UTSW |
3 |
63,609,402 (GRCm39) |
missense |
probably benign |
0.05 |
R7983:Plch1
|
UTSW |
3 |
63,615,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R8057:Plch1
|
UTSW |
3 |
63,605,557 (GRCm39) |
missense |
probably benign |
|
R8066:Plch1
|
UTSW |
3 |
63,618,478 (GRCm39) |
nonsense |
probably null |
|
R8206:Plch1
|
UTSW |
3 |
63,610,047 (GRCm39) |
splice site |
probably null |
|
R8678:Plch1
|
UTSW |
3 |
63,623,468 (GRCm39) |
nonsense |
probably null |
|
R8731:Plch1
|
UTSW |
3 |
63,605,059 (GRCm39) |
missense |
probably benign |
0.37 |
R8739:Plch1
|
UTSW |
3 |
63,778,106 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8853:Plch1
|
UTSW |
3 |
63,688,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R8875:Plch1
|
UTSW |
3 |
63,618,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R8945:Plch1
|
UTSW |
3 |
63,639,039 (GRCm39) |
missense |
probably benign |
0.02 |
R8947:Plch1
|
UTSW |
3 |
63,691,547 (GRCm39) |
missense |
probably damaging |
0.99 |
R8953:Plch1
|
UTSW |
3 |
63,639,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9065:Plch1
|
UTSW |
3 |
63,674,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Plch1
|
UTSW |
3 |
63,612,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9188:Plch1
|
UTSW |
3 |
63,639,075 (GRCm39) |
missense |
probably null |
1.00 |
R9238:Plch1
|
UTSW |
3 |
63,606,412 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9478:Plch1
|
UTSW |
3 |
63,606,825 (GRCm39) |
missense |
probably benign |
0.01 |
R9526:Plch1
|
UTSW |
3 |
63,758,549 (GRCm39) |
intron |
probably benign |
|
R9539:Plch1
|
UTSW |
3 |
63,691,427 (GRCm39) |
missense |
probably null |
0.01 |
R9634:Plch1
|
UTSW |
3 |
63,605,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Plch1
|
UTSW |
3 |
63,660,747 (GRCm39) |
missense |
|
|
R9659:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
R9711:Plch1
|
UTSW |
3 |
63,615,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R9788:Plch1
|
UTSW |
3 |
63,681,136 (GRCm39) |
missense |
probably benign |
0.17 |
R9799:Plch1
|
UTSW |
3 |
63,605,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
RF018:Plch1
|
UTSW |
3 |
63,628,636 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Plch1
|
UTSW |
3 |
63,651,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATGGACAGATACCCTTCACACG -3'
(R):5'- TCTCAAGCGTAAGCAACTGCCTC -3'
Sequencing Primer
(F):5'- AGATACCCTTCACACGTATGG -3'
(R):5'- cacacacacacatacacacac -3'
|
Posted On |
2014-05-09 |