Incidental Mutation 'R2504:Ptch1'
| ID |
252214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptch1
|
| Ensembl Gene |
ENSMUSG00000021466 |
| Gene Name |
patched 1 |
| Synonyms |
wig, Ptc, Ptc1, A230106A15Rik, Patched 1 |
| MMRRC Submission |
040412-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2504 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
63656142-63721274 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 63672773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 944
(E944A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021921]
[ENSMUST00000192155]
[ENSMUST00000194663]
[ENSMUST00000195258]
|
| AlphaFold |
Q61115 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021921
AA Change: E944A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000021921
Gene: ENSMUSG00000021466
AA Change: E944A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
30 |
N/A |
INTRINSIC |
|
Pfam:Patched
|
351 |
871 |
7.6e-47 |
PFAM |
|
Pfam:Sterol-sensing
|
448 |
602 |
1.5e-45 |
PFAM |
|
Pfam:Patched
|
952 |
1166 |
9.8e-33 |
PFAM |
|
low complexity region
|
1180 |
1189 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1281 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1367 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192155
AA Change: E807A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141489
Gene: ENSMUSG00000021466
AA Change: E807A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
214 |
733 |
3.1e-44 |
PFAM |
|
Pfam:Sterol-sensing
|
311 |
465 |
2.8e-46 |
PFAM |
|
Pfam:Patched
|
814 |
1029 |
3.1e-30 |
PFAM |
|
low complexity region
|
1043 |
1052 |
N/A |
INTRINSIC |
|
low complexity region
|
1067 |
1076 |
N/A |
INTRINSIC |
|
low complexity region
|
1144 |
1159 |
N/A |
INTRINSIC |
|
low complexity region
|
1218 |
1230 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194663
|
| SMART Domains |
Protein: ENSMUSP00000141766
Gene: ENSMUSG00000021466
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
298 |
569 |
4.7e-34 |
PFAM |
|
Pfam:Sterol-sensing
|
396 |
550 |
7.9e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195258
|
| SMART Domains |
Protein: ENSMUSP00000141309
Gene: ENSMUSG00000021466
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Patched
|
212 |
426 |
7.8e-28 |
PFAM |
|
Pfam:Sterol-sensing
|
311 |
426 |
8e-33 |
PFAM |
|
| Meta Mutation Damage Score |
0.1368 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die by day 10 with neural tube defects. Heterozygotes are large with excess cerebellar granule cell proliferation and sometimes, hindlimb defects and medulloblastomas. Hypomorphic and spontaneous mutants have reproductive defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,909,681 (GRCm39) |
D28G |
probably benign |
Het |
| Abcg1 |
T |
A |
17: 31,311,369 (GRCm39) |
S125T |
probably damaging |
Het |
| Actbl2 |
T |
C |
13: 111,392,717 (GRCm39) |
S351P |
possibly damaging |
Het |
| Ankrd34b |
A |
G |
13: 92,575,569 (GRCm39) |
|
probably null |
Het |
| BC051665 |
C |
T |
13: 60,930,468 (GRCm39) |
V295I |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,983 (GRCm39) |
N265S |
probably damaging |
Het |
| Ccdc14 |
C |
T |
16: 34,542,220 (GRCm39) |
R573* |
probably null |
Het |
| Cd55b |
A |
T |
1: 130,337,612 (GRCm39) |
Y247N |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,320,907 (GRCm39) |
V635E |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,377,551 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,042,904 (GRCm39) |
Y41C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,172,126 (GRCm39) |
D19E |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,060,375 (GRCm39) |
N53S |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,248,700 (GRCm39) |
E1750K |
probably damaging |
Het |
| Csad |
A |
T |
15: 102,097,102 (GRCm39) |
M1K |
probably null |
Het |
| Cyb5rl |
A |
G |
4: 106,938,142 (GRCm39) |
I200V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,686,790 (GRCm39) |
T81A |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,237 (GRCm39) |
H433L |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,208 (GRCm39) |
|
probably null |
Het |
| Dennd1b |
A |
G |
1: 139,097,908 (GRCm39) |
|
probably benign |
Het |
| Dmap1 |
G |
T |
4: 117,532,495 (GRCm39) |
T357K |
probably damaging |
Het |
| Dzip1 |
G |
T |
14: 119,118,456 (GRCm39) |
T759K |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,810,364 (GRCm39) |
D864G |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,816,511 (GRCm39) |
V2670A |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,423,988 (GRCm39) |
I534F |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,359,628 (GRCm39) |
Y742D |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,106,272 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,536,545 (GRCm39) |
|
probably null |
Het |
| Fam229a |
A |
G |
4: 129,385,279 (GRCm39) |
D70G |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,226,431 (GRCm39) |
R781Q |
probably damaging |
Het |
| Fbxo16 |
A |
T |
14: 65,508,163 (GRCm39) |
|
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,111 (GRCm39) |
S154R |
probably benign |
Het |
| Fer |
T |
A |
17: 64,298,575 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
T |
16: 57,391,410 (GRCm39) |
D428V |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,025 (GRCm39) |
I538V |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,809,954 (GRCm39) |
I2091T |
possibly damaging |
Het |
| Glyat |
A |
C |
19: 12,628,762 (GRCm39) |
T186P |
possibly damaging |
Het |
| Gm10604 |
A |
G |
4: 11,980,083 (GRCm39) |
S74P |
unknown |
Het |
| Gm4787 |
T |
G |
12: 81,425,911 (GRCm39) |
K82N |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,358,683 (GRCm39) |
I50T |
unknown |
Het |
| Hectd4 |
T |
C |
5: 121,402,030 (GRCm39) |
S373P |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,562,618 (GRCm39) |
C2313* |
probably null |
Het |
| Hrob |
T |
C |
11: 102,146,122 (GRCm39) |
Y133H |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,897,054 (GRCm39) |
S1171T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,241,642 (GRCm39) |
D267G |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,356,727 (GRCm39) |
C251R |
probably damaging |
Het |
| Jcad |
C |
T |
18: 4,674,026 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnj16 |
C |
T |
11: 110,916,409 (GRCm39) |
T357M |
probably benign |
Het |
| Kif13a |
G |
A |
13: 46,967,676 (GRCm39) |
T346M |
probably damaging |
Het |
| Klhl24 |
G |
A |
16: 19,938,917 (GRCm39) |
A491T |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,916,410 (GRCm39) |
Q748* |
probably null |
Het |
| Krt25 |
T |
A |
11: 99,208,122 (GRCm39) |
K369* |
probably null |
Het |
| Krt75 |
C |
T |
15: 101,476,466 (GRCm39) |
R433Q |
probably benign |
Het |
| Krt76 |
A |
G |
15: 101,793,293 (GRCm39) |
F582L |
unknown |
Het |
| Lysmd1 |
G |
A |
3: 95,045,708 (GRCm39) |
V182I |
probably benign |
Het |
| Mab21l2 |
T |
A |
3: 86,454,862 (GRCm39) |
E46V |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,563,934 (GRCm39) |
K355N |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,276,398 (GRCm39) |
D630G |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,875,147 (GRCm39) |
I1215N |
probably damaging |
Het |
| Nckap1 |
G |
A |
2: 80,360,562 (GRCm39) |
T523I |
probably benign |
Het |
| Nexmif |
T |
A |
X: 103,127,999 (GRCm39) |
D1306V |
probably damaging |
Het |
| Nfkb1 |
A |
C |
3: 135,295,090 (GRCm39) |
I918R |
possibly damaging |
Het |
| Nt5el |
A |
G |
13: 105,246,250 (GRCm39) |
I270M |
probably benign |
Het |
| Nup50 |
A |
T |
15: 84,817,859 (GRCm39) |
T93S |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,961,717 (GRCm39) |
Y434H |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,397 (GRCm39) |
V261A |
probably benign |
Het |
| Osbpl1a |
C |
A |
18: 13,038,088 (GRCm39) |
V288L |
probably benign |
Het |
| Pan3 |
A |
G |
5: 147,463,846 (GRCm39) |
E562G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,099,126 (GRCm39) |
Y548* |
probably null |
Het |
| Phf3 |
A |
T |
1: 30,849,870 (GRCm39) |
L1181Q |
probably damaging |
Het |
| Phip |
T |
C |
9: 82,797,392 (GRCm39) |
H537R |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,348,824 (GRCm39) |
I240T |
probably damaging |
Het |
| Pole |
G |
A |
5: 110,438,368 (GRCm39) |
|
probably null |
Het |
| Polq |
T |
A |
16: 36,832,304 (GRCm39) |
S15T |
unknown |
Het |
| Prrt2 |
T |
C |
7: 126,619,396 (GRCm39) |
E23G |
possibly damaging |
Het |
| Prss37 |
A |
T |
6: 40,494,760 (GRCm39) |
|
probably null |
Het |
| Prune2 |
T |
C |
19: 16,977,400 (GRCm39) |
L45P |
probably damaging |
Het |
| Psd |
A |
T |
19: 46,313,352 (GRCm39) |
M6K |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,017,719 (GRCm39) |
E510G |
possibly damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,405 (GRCm39) |
I1194N |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rgmb |
C |
A |
17: 16,027,909 (GRCm39) |
R270L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 92,007,344 (GRCm39) |
|
probably null |
Het |
| Rps2 |
G |
A |
17: 24,939,353 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,107,364 (GRCm39) |
A550E |
probably damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,138 (GRCm39) |
R112H |
probably benign |
Het |
| Scfd2 |
T |
C |
5: 74,691,838 (GRCm39) |
N148S |
probably damaging |
Het |
| Scin |
C |
T |
12: 40,131,705 (GRCm39) |
M276I |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,255 (GRCm39) |
I708T |
possibly damaging |
Het |
| Skint11 |
T |
A |
4: 114,086,009 (GRCm39) |
F41I |
possibly damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,694,303 (GRCm39) |
F44Y |
possibly damaging |
Het |
| Slc6a18 |
A |
G |
13: 73,823,925 (GRCm39) |
Y72H |
probably benign |
Het |
| Slc7a11 |
A |
T |
3: 50,332,195 (GRCm39) |
|
probably null |
Het |
| Slc7a14 |
G |
T |
3: 31,291,650 (GRCm39) |
N209K |
possibly damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,257 (GRCm39) |
C59R |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,884,997 (GRCm39) |
|
probably null |
Het |
| Stag1 |
G |
T |
9: 100,748,263 (GRCm39) |
S475I |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,029 (GRCm39) |
Y1183H |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,135,628 (GRCm39) |
|
probably null |
Het |
| Tm9sf2 |
A |
G |
14: 122,396,096 (GRCm39) |
T653A |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,059 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tnnt2 |
G |
T |
1: 135,779,803 (GRCm39) |
W300L |
probably damaging |
Het |
| Traj32 |
A |
G |
14: 54,423,560 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,269,204 (GRCm39) |
M223L |
probably benign |
Het |
| Tsga10 |
G |
A |
1: 37,854,758 (GRCm39) |
T246M |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,810,870 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,542 (GRCm39) |
F450I |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,703,677 (GRCm39) |
|
probably null |
Het |
| Vars2 |
C |
T |
17: 35,975,685 (GRCm39) |
R244Q |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,546,803 (GRCm39) |
F251L |
probably damaging |
Het |
| Zfp804a |
G |
A |
2: 82,087,863 (GRCm39) |
R564Q |
probably benign |
Het |
| Zfp983 |
T |
C |
17: 21,877,883 (GRCm39) |
C29R |
probably damaging |
Het |
|
| Other mutations in Ptch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00567:Ptch1
|
APN |
13 |
63,674,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01084:Ptch1
|
APN |
13 |
63,691,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01369:Ptch1
|
APN |
13 |
63,659,495 (GRCm39) |
missense |
probably benign |
|
|
IGL02260:Ptch1
|
APN |
13 |
63,713,166 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02439:Ptch1
|
APN |
13 |
63,692,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Ptch1
|
APN |
13 |
63,659,732 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02797:Ptch1
|
APN |
13 |
63,681,421 (GRCm39) |
missense |
probably benign |
|
|
R0463:Ptch1
|
UTSW |
13 |
63,668,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0539:Ptch1
|
UTSW |
13 |
63,691,294 (GRCm39) |
splice site |
probably benign |
|
|
R0657:Ptch1
|
UTSW |
13 |
63,661,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0971:Ptch1
|
UTSW |
13 |
63,687,657 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1466:Ptch1
|
UTSW |
13 |
63,672,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1466:Ptch1
|
UTSW |
13 |
63,672,783 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1539:Ptch1
|
UTSW |
13 |
63,689,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1616:Ptch1
|
UTSW |
13 |
63,687,656 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1883:Ptch1
|
UTSW |
13 |
63,659,841 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1986:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2025:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2026:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2096:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2097:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2100:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2105:Ptch1
|
UTSW |
13 |
63,693,059 (GRCm39) |
missense |
probably benign |
|
|
R2165:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2166:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2167:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2168:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2226:Ptch1
|
UTSW |
13 |
63,661,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2507:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2696:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2698:Ptch1
|
UTSW |
13 |
63,690,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2698:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2971:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3410:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3708:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3744:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3745:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3783:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3784:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3785:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3807:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3950:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4013:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4015:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4016:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4017:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4035:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4083:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4084:Ptch1
|
UTSW |
13 |
63,672,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4179:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4222:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4348:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4350:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4353:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Ptch1
|
UTSW |
13 |
63,682,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Ptch1
|
UTSW |
13 |
63,691,422 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4625:Ptch1
|
UTSW |
13 |
63,670,978 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4809:Ptch1
|
UTSW |
13 |
63,661,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4904:Ptch1
|
UTSW |
13 |
63,670,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Ptch1
|
UTSW |
13 |
63,670,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Ptch1
|
UTSW |
13 |
63,672,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5386:Ptch1
|
UTSW |
13 |
63,692,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5447:Ptch1
|
UTSW |
13 |
63,675,059 (GRCm39) |
missense |
probably benign |
|
|
R5604:Ptch1
|
UTSW |
13 |
63,672,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5846:Ptch1
|
UTSW |
13 |
63,713,268 (GRCm39) |
unclassified |
probably benign |
|
|
R5926:Ptch1
|
UTSW |
13 |
63,692,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5945:Ptch1
|
UTSW |
13 |
63,721,233 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5957:Ptch1
|
UTSW |
13 |
63,672,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Ptch1
|
UTSW |
13 |
63,691,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:Ptch1
|
UTSW |
13 |
63,661,503 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6376:Ptch1
|
UTSW |
13 |
63,691,422 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6599:Ptch1
|
UTSW |
13 |
63,670,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6615:Ptch1
|
UTSW |
13 |
63,687,644 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6965:Ptch1
|
UTSW |
13 |
63,672,881 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7149:Ptch1
|
UTSW |
13 |
63,659,550 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7168:Ptch1
|
UTSW |
13 |
63,659,874 (GRCm39) |
missense |
probably benign |
|
|
R7257:Ptch1
|
UTSW |
13 |
63,721,108 (GRCm39) |
missense |
not run |
|
|
R7258:Ptch1
|
UTSW |
13 |
63,721,108 (GRCm39) |
missense |
not run |
|
|
R7259:Ptch1
|
UTSW |
13 |
63,721,108 (GRCm39) |
missense |
not run |
|
|
R7368:Ptch1
|
UTSW |
13 |
63,659,798 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7525:Ptch1
|
UTSW |
13 |
63,659,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7528:Ptch1
|
UTSW |
13 |
63,659,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7820:Ptch1
|
UTSW |
13 |
63,670,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8077:Ptch1
|
UTSW |
13 |
63,688,626 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8373:Ptch1
|
UTSW |
13 |
63,688,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Ptch1
|
UTSW |
13 |
63,672,939 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8407:Ptch1
|
UTSW |
13 |
63,662,057 (GRCm39) |
missense |
probably null |
1.00 |
|
R8839:Ptch1
|
UTSW |
13 |
63,689,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Ptch1
|
UTSW |
13 |
63,681,335 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9476:Ptch1
|
UTSW |
13 |
63,681,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9514:Ptch1
|
UTSW |
13 |
63,675,071 (GRCm39) |
missense |
probably benign |
|
|
R9528:Ptch1
|
UTSW |
13 |
63,661,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9568:Ptch1
|
UTSW |
13 |
63,689,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ptch1
|
UTSW |
13 |
63,668,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGCTCACTTCTCAACGTG -3'
(R):5'- TAGTTGACTAAACAGCGTCTGG -3'
Sequencing Primer
(F):5'- GCAGGGCTGTGTTCCATTACAC -3'
(R):5'- GTAGACGCAGATGGCATCATTAATCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation