Incidental Mutation 'R1864:Trpm1'
| ID |
208497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm1
|
| Ensembl Gene |
ENSMUSG00000030523 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 1 |
| Synonyms |
Mlsn1, melastatin, 4732499L03Rik, LTRPC1 |
| MMRRC Submission |
039887-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
63803583-63919523 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63917764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1258
(K1258R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085222]
[ENSMUST00000206263]
[ENSMUST00000206277]
[ENSMUST00000206314]
[ENSMUST00000206848]
|
| AlphaFold |
Q2TV84 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085222
AA Change: K1252R
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523
AA Change: K1252R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
491 |
N/A |
INTRINSIC |
|
Blast:ANK
|
505 |
533 |
1e-5 |
BLAST |
|
low complexity region
|
621 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
transmembrane domain
|
876 |
895 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
907 |
1120 |
6e-16 |
PFAM |
|
transmembrane domain
|
1150 |
1167 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1225 |
N/A |
INTRINSIC |
|
PDB:3E7K|H
|
1228 |
1279 |
1e-7 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107525
AA Change: K1258R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103149
Gene: ENSMUSG00000030523
AA Change: K1258R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
491 |
N/A |
INTRINSIC |
|
Blast:ANK
|
505 |
533 |
1e-5 |
BLAST |
|
low complexity region
|
621 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
876 |
1138 |
7.6e-22 |
PFAM |
|
transmembrane domain
|
1156 |
1173 |
N/A |
INTRINSIC |
|
Pfam:TRPM_tetra
|
1230 |
1285 |
9.4e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205466
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206263
AA Change: K1136R
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206277
AA Change: K1258R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206314
AA Change: K368R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206848
AA Change: K152R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
| 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 transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
G |
A |
X: 159,265,347 (GRCm39) |
M532I |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,598,016 (GRCm39) |
Y1198H |
possibly damaging |
Het |
| Ahcyl2 |
G |
A |
6: 29,908,354 (GRCm39) |
V575M |
probably damaging |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,508,610 (GRCm39) |
N329K |
probably benign |
Het |
| Ano4 |
C |
A |
10: 88,807,253 (GRCm39) |
G741V |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,357,053 (GRCm39) |
D191G |
probably benign |
Het |
| Apc2 |
C |
T |
10: 80,149,482 (GRCm39) |
T1512I |
probably damaging |
Het |
| Aph1b |
A |
T |
9: 66,701,395 (GRCm39) |
C81S |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,866,015 (GRCm39) |
E893G |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,640 (GRCm39) |
H399Q |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,919,294 (GRCm39) |
E304G |
probably benign |
Het |
| B4galnt4 |
A |
G |
7: 140,650,446 (GRCm39) |
Y771C |
probably damaging |
Het |
| Birc2 |
G |
T |
9: 7,819,518 (GRCm39) |
Q465K |
probably benign |
Het |
| Btla |
C |
T |
16: 45,070,737 (GRCm39) |
T232I |
probably damaging |
Het |
| Ccl7 |
G |
T |
11: 81,937,378 (GRCm39) |
K37N |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,061,967 (GRCm39) |
V233A |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,329,018 (GRCm39) |
C66R |
probably damaging |
Het |
| Cilp2 |
C |
A |
8: 70,333,973 (GRCm39) |
Q1008H |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,475 (GRCm39) |
D442E |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,120,113 (GRCm39) |
T269A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,534,385 (GRCm39) |
|
probably null |
Het |
| Cts6 |
A |
G |
13: 61,349,393 (GRCm39) |
I105T |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,931,739 (GRCm39) |
D123G |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,045,105 (GRCm39) |
L808Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,496,215 (GRCm39) |
I270N |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,342,043 (GRCm39) |
T92A |
possibly damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,025 (GRCm39) |
C197S |
probably benign |
Het |
| Diaph2 |
G |
A |
X: 128,860,876 (GRCm39) |
R473Q |
probably damaging |
Het |
| Dnd1 |
A |
G |
18: 36,899,057 (GRCm39) |
C11R |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,748,236 (GRCm39) |
D1566A |
probably benign |
Het |
| Drp2 |
A |
G |
X: 133,327,864 (GRCm39) |
I43V |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,683,621 (GRCm39) |
V533A |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,849,942 (GRCm39) |
H427L |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,934 (GRCm39) |
E725G |
probably damaging |
Het |
| Eml2 |
A |
G |
7: 18,935,803 (GRCm39) |
Y487C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,018,246 (GRCm39) |
L919H |
probably damaging |
Het |
| Fam187a |
T |
A |
11: 102,776,837 (GRCm39) |
S214T |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,283,869 (GRCm39) |
T521A |
probably benign |
Het |
| Foxi1 |
T |
A |
11: 34,157,531 (GRCm39) |
I165F |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,543,103 (GRCm39) |
K633N |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,098,206 (GRCm39) |
I209T |
probably benign |
Het |
| Gmpr |
G |
T |
13: 45,696,101 (GRCm39) |
V278F |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,057,384 (GRCm39) |
D328V |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,660,056 (GRCm39) |
S534P |
probably damaging |
Het |
| Heph |
A |
G |
X: 95,573,092 (GRCm39) |
T792A |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,695,870 (GRCm39) |
|
probably null |
Het |
| Hps3 |
T |
A |
3: 20,074,123 (GRCm39) |
|
probably null |
Het |
| Hspa5 |
T |
C |
2: 34,664,553 (GRCm39) |
F336L |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,441,413 (GRCm39) |
I409T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,966 (GRCm39) |
H47L |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,853,230 (GRCm39) |
Q108L |
probably damaging |
Het |
| Klc3 |
A |
G |
7: 19,131,966 (GRCm39) |
V137A |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,275,434 (GRCm39) |
T194A |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,841,742 (GRCm39) |
F576I |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,837,459 (GRCm39) |
I144V |
possibly damaging |
Het |
| Mctp1 |
G |
A |
13: 76,533,267 (GRCm39) |
C205Y |
possibly damaging |
Het |
| Mitf |
A |
T |
6: 97,987,383 (GRCm39) |
N159I |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,412,893 (GRCm39) |
I678T |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,576,625 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,701,463 (GRCm39) |
Y2115C |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,975,153 (GRCm39) |
I182V |
probably benign |
Het |
| Ncor1 |
A |
G |
11: 62,272,245 (GRCm39) |
V635A |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,102,772 (GRCm39) |
Y4257* |
probably null |
Het |
| Npr2 |
T |
A |
4: 43,641,258 (GRCm39) |
V428E |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,583,124 (GRCm39) |
D346G |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,469,753 (GRCm39) |
S1088F |
probably benign |
Het |
| Or10s1 |
T |
G |
9: 39,986,081 (GRCm39) |
I163M |
possibly damaging |
Het |
| Or2ag1 |
T |
C |
7: 106,313,030 (GRCm39) |
N286S |
possibly damaging |
Het |
| Or4c127 |
T |
A |
2: 89,832,825 (GRCm39) |
V25E |
probably benign |
Het |
| Or4k38 |
C |
T |
2: 111,166,052 (GRCm39) |
V124M |
possibly damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,378 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,560 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,204,789 (GRCm39) |
V550I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,185,389 (GRCm39) |
L237* |
probably null |
Het |
| Pla2r1 |
G |
A |
2: 60,259,055 (GRCm39) |
T1111M |
probably benign |
Het |
| Plxnd1 |
A |
T |
6: 115,946,402 (GRCm39) |
|
probably null |
Het |
| Pnp |
G |
C |
14: 51,185,430 (GRCm39) |
A67P |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,404 (GRCm39) |
S837T |
probably damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,381,707 (GRCm39) |
D203G |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,635,153 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
C |
A |
4: 43,421,719 (GRCm39) |
A713D |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,560,673 (GRCm39) |
H3009Q |
possibly damaging |
Het |
| Serpina1d |
C |
A |
12: 103,734,256 (GRCm39) |
C16F |
probably benign |
Het |
| Serpinf2 |
G |
T |
11: 75,328,309 (GRCm39) |
R80S |
possibly damaging |
Het |
| Sh2d4a |
C |
A |
8: 68,781,967 (GRCm39) |
Q192K |
probably benign |
Het |
| Sh3d21 |
T |
A |
4: 126,044,729 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,046 (GRCm39) |
L55Q |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,481,287 (GRCm39) |
D255G |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,483,106 (GRCm39) |
H170Q |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,703,509 (GRCm39) |
Y261C |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,071 (GRCm39) |
N102K |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,152 (GRCm39) |
I307K |
probably damaging |
Het |
| Sv2b |
A |
T |
7: 74,773,828 (GRCm39) |
S548T |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,780,694 (GRCm39) |
S524P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,905,699 (GRCm39) |
D152G |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,487 (GRCm39) |
T48A |
possibly damaging |
Het |
| Tmem37 |
A |
G |
1: 119,995,952 (GRCm39) |
S42P |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,494,003 (GRCm39) |
V321A |
probably benign |
Het |
| Ube2c |
C |
A |
2: 164,611,943 (GRCm39) |
A15E |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,417,425 (GRCm39) |
D154E |
possibly damaging |
Het |
| Umod |
A |
T |
7: 119,062,478 (GRCm39) |
L631M |
probably damaging |
Het |
| Ush1c |
G |
A |
7: 45,868,816 (GRCm39) |
Q373* |
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,040 (GRCm39) |
R125* |
probably null |
Het |
| Wnt8b |
T |
C |
19: 44,482,029 (GRCm39) |
L14P |
probably benign |
Het |
| Wrn |
G |
A |
8: 33,778,892 (GRCm39) |
A563V |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,348,998 (GRCm39) |
Q145L |
possibly damaging |
Het |
| Zfp608 |
A |
G |
18: 55,030,983 (GRCm39) |
S986P |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,233,373 (GRCm39) |
H228R |
possibly damaging |
Het |
|
| Other mutations in Trpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Trpm1
|
APN |
7 |
63,893,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00465:Trpm1
|
APN |
7 |
63,897,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01118:Trpm1
|
APN |
7 |
63,885,572 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01148:Trpm1
|
APN |
7 |
63,893,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01303:Trpm1
|
APN |
7 |
63,860,578 (GRCm39) |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL01432:Trpm1
|
APN |
7 |
63,884,767 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01433:Trpm1
|
APN |
7 |
63,854,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01506:Trpm1
|
APN |
7 |
63,893,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Trpm1
|
APN |
7 |
63,918,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01640:Trpm1
|
APN |
7 |
63,876,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01899:Trpm1
|
APN |
7 |
63,884,742 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01959:Trpm1
|
APN |
7 |
63,858,723 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02210:Trpm1
|
APN |
7 |
63,860,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Trpm1
|
APN |
7 |
63,867,362 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02331:Trpm1
|
APN |
7 |
63,884,800 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02334:Trpm1
|
APN |
7 |
63,895,690 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02407:Trpm1
|
APN |
7 |
63,868,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Trpm1
|
APN |
7 |
63,890,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02485:Trpm1
|
APN |
7 |
63,918,862 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02635:Trpm1
|
APN |
7 |
63,848,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02640:Trpm1
|
APN |
7 |
63,868,881 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02827:Trpm1
|
APN |
7 |
63,868,908 (GRCm39) |
missense |
probably null |
1.00 |
|
PIT4458001:Trpm1
|
UTSW |
7 |
63,918,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4544001:Trpm1
|
UTSW |
7 |
63,848,998 (GRCm39) |
intron |
probably benign |
|
|
R0012:Trpm1
|
UTSW |
7 |
63,918,339 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0014:Trpm1
|
UTSW |
7 |
63,897,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0056:Trpm1
|
UTSW |
7 |
63,893,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Trpm1
|
UTSW |
7 |
63,894,590 (GRCm39) |
unclassified |
probably benign |
|
|
R0463:Trpm1
|
UTSW |
7 |
63,870,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0469:Trpm1
|
UTSW |
7 |
63,873,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Trpm1
|
UTSW |
7 |
63,873,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Trpm1
|
UTSW |
7 |
63,852,801 (GRCm39) |
splice site |
probably null |
|
|
R1397:Trpm1
|
UTSW |
7 |
63,867,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1588:Trpm1
|
UTSW |
7 |
63,873,565 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1618:Trpm1
|
UTSW |
7 |
63,890,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1724:Trpm1
|
UTSW |
7 |
63,885,569 (GRCm39) |
nonsense |
probably null |
|
|
R1827:Trpm1
|
UTSW |
7 |
63,884,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Trpm1
|
UTSW |
7 |
63,876,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Trpm1
|
UTSW |
7 |
63,880,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Trpm1
|
UTSW |
7 |
63,873,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Trpm1
|
UTSW |
7 |
63,873,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Trpm1
|
UTSW |
7 |
63,879,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Trpm1
|
UTSW |
7 |
63,879,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Trpm1
|
UTSW |
7 |
63,858,182 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1989:Trpm1
|
UTSW |
7 |
63,858,780 (GRCm39) |
intron |
probably null |
|
|
R2054:Trpm1
|
UTSW |
7 |
63,890,303 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2156:Trpm1
|
UTSW |
7 |
63,884,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Trpm1
|
UTSW |
7 |
63,859,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3051:Trpm1
|
UTSW |
7 |
63,918,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Trpm1
|
UTSW |
7 |
63,884,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3195:Trpm1
|
UTSW |
7 |
63,849,061 (GRCm39) |
nonsense |
probably null |
|
|
R3615:Trpm1
|
UTSW |
7 |
63,893,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3616:Trpm1
|
UTSW |
7 |
63,893,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3623:Trpm1
|
UTSW |
7 |
63,894,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3624:Trpm1
|
UTSW |
7 |
63,894,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3721:Trpm1
|
UTSW |
7 |
63,867,475 (GRCm39) |
intron |
probably benign |
|
|
R3822:Trpm1
|
UTSW |
7 |
63,867,451 (GRCm39) |
intron |
probably benign |
|
|
R4441:Trpm1
|
UTSW |
7 |
63,851,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Trpm1
|
UTSW |
7 |
63,858,660 (GRCm39) |
nonsense |
probably null |
|
|
R4666:Trpm1
|
UTSW |
7 |
63,852,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Trpm1
|
UTSW |
7 |
63,893,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Trpm1
|
UTSW |
7 |
63,884,800 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4811:Trpm1
|
UTSW |
7 |
63,858,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Trpm1
|
UTSW |
7 |
63,894,580 (GRCm39) |
unclassified |
probably benign |
|
|
R5030:Trpm1
|
UTSW |
7 |
63,885,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Trpm1
|
UTSW |
7 |
63,887,441 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5238:Trpm1
|
UTSW |
7 |
63,918,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Trpm1
|
UTSW |
7 |
63,858,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5575:Trpm1
|
UTSW |
7 |
63,870,018 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5613:Trpm1
|
UTSW |
7 |
63,858,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Trpm1
|
UTSW |
7 |
63,918,710 (GRCm39) |
nonsense |
probably null |
|
|
R5947:Trpm1
|
UTSW |
7 |
63,873,547 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5988:Trpm1
|
UTSW |
7 |
63,876,553 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6054:Trpm1
|
UTSW |
7 |
63,918,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6088:Trpm1
|
UTSW |
7 |
63,917,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6259:Trpm1
|
UTSW |
7 |
63,918,226 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6379:Trpm1
|
UTSW |
7 |
63,848,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6380:Trpm1
|
UTSW |
7 |
63,918,045 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6429:Trpm1
|
UTSW |
7 |
63,918,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6600:Trpm1
|
UTSW |
7 |
63,803,781 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
|
R6622:Trpm1
|
UTSW |
7 |
63,890,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6939:Trpm1
|
UTSW |
7 |
63,918,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6944:Trpm1
|
UTSW |
7 |
63,893,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Trpm1
|
UTSW |
7 |
63,876,462 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7112:Trpm1
|
UTSW |
7 |
63,885,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7168:Trpm1
|
UTSW |
7 |
63,918,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7219:Trpm1
|
UTSW |
7 |
63,854,333 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7224:Trpm1
|
UTSW |
7 |
63,868,854 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7285:Trpm1
|
UTSW |
7 |
63,859,729 (GRCm39) |
nonsense |
probably null |
|
|
R7367:Trpm1
|
UTSW |
7 |
63,918,549 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7449:Trpm1
|
UTSW |
7 |
63,858,723 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7466:Trpm1
|
UTSW |
7 |
63,890,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7498:Trpm1
|
UTSW |
7 |
63,858,657 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7581:Trpm1
|
UTSW |
7 |
63,854,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7776:Trpm1
|
UTSW |
7 |
63,897,939 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8062:Trpm1
|
UTSW |
7 |
63,851,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8069:Trpm1
|
UTSW |
7 |
63,858,718 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8157:Trpm1
|
UTSW |
7 |
63,849,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Trpm1
|
UTSW |
7 |
63,851,699 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8258:Trpm1
|
UTSW |
7 |
63,918,777 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8259:Trpm1
|
UTSW |
7 |
63,918,777 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8320:Trpm1
|
UTSW |
7 |
63,918,541 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8536:Trpm1
|
UTSW |
7 |
63,897,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Trpm1
|
UTSW |
7 |
63,874,356 (GRCm39) |
splice site |
probably null |
|
|
R8813:Trpm1
|
UTSW |
7 |
63,851,756 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8912:Trpm1
|
UTSW |
7 |
63,918,628 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8954:Trpm1
|
UTSW |
7 |
63,858,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9139:Trpm1
|
UTSW |
7 |
63,848,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Trpm1
|
UTSW |
7 |
63,890,319 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9258:Trpm1
|
UTSW |
7 |
63,884,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9283:Trpm1
|
UTSW |
7 |
63,873,623 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9394:Trpm1
|
UTSW |
7 |
63,918,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9430:Trpm1
|
UTSW |
7 |
63,873,446 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9537:Trpm1
|
UTSW |
7 |
63,803,616 (GRCm39) |
unclassified |
probably benign |
|
|
R9616:Trpm1
|
UTSW |
7 |
63,858,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9774:Trpm1
|
UTSW |
7 |
63,898,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0026:Trpm1
|
UTSW |
7 |
63,918,658 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Trpm1
|
UTSW |
7 |
63,854,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Trpm1
|
UTSW |
7 |
63,852,879 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Trpm1
|
UTSW |
7 |
63,867,439 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGGCATTCCGTAAACAC -3'
(R):5'- CACTGTTGATGCTGCTCTGC -3'
Sequencing Primer
(F):5'- GTCTGGCATTCCGTAAACACTATATG -3'
(R):5'- TGCCGCAGCAGGTAGGTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation