Incidental Mutation 'R0139:Trpm7'
| ID |
22154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm7
|
| Ensembl Gene |
ENSMUSG00000027365 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 7 |
| Synonyms |
CHAK, 5033407O22Rik, TRP-PLIK, 4833414K03Rik, CHAK1, LTRPC7, Ltpr7, 2310022G15Rik |
| MMRRC Submission |
038424-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0139 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
2 |
| Chromosomal Location |
126633485-126718150 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126654691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1416
(S1416T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028843]
[ENSMUST00000103224]
|
| AlphaFold |
Q923J1 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028843
AA Change: S1416T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: S1416T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
438 |
467 |
5e-6 |
BLAST |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
transmembrane domain
|
757 |
774 |
N/A |
INTRINSIC |
|
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
887 |
1096 |
3e-8 |
PFAM |
|
PDB:3E7K|H
|
1198 |
1249 |
6e-27 |
PDB |
|
low complexity region
|
1385 |
1397 |
N/A |
INTRINSIC |
|
Blast:Alpha_kinase
|
1398 |
1545 |
6e-64 |
BLAST |
|
Alpha_kinase
|
1596 |
1813 |
3.77e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103224
AA Change: S1416T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: S1416T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
438 |
467 |
5e-6 |
BLAST |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
transmembrane domain
|
757 |
774 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
855 |
1108 |
1.7e-9 |
PFAM |
|
Pfam:TRPM_tetra
|
1194 |
1249 |
3.3e-29 |
PFAM |
|
low complexity region
|
1385 |
1397 |
N/A |
INTRINSIC |
|
Blast:Alpha_kinase
|
1398 |
1546 |
2e-64 |
BLAST |
|
Alpha_kinase
|
1597 |
1814 |
3.77e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142334
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
97% (89/92) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic lehality. Mice with conditional deletion in developing thymocytes display a block in thymopoiesis. Mice homozygous for a kinase deleted allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit altered magnesium homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
C |
T |
8: 12,329,899 (GRCm39) |
S118L |
unknown |
Het |
| Adprs |
A |
G |
4: 126,211,947 (GRCm39) |
Y122H |
probably damaging |
Het |
| Ankrd52 |
T |
C |
10: 128,222,007 (GRCm39) |
S544P |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,338,298 (GRCm39) |
N558S |
probably benign |
Het |
| Arhgef7 |
A |
G |
8: 11,850,503 (GRCm39) |
E111G |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,896,054 (GRCm39) |
M755V |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,629,778 (GRCm39) |
I97T |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,027,768 (GRCm39) |
D463N |
possibly damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,255,230 (GRCm39) |
|
probably benign |
Het |
| Ccdc28a |
G |
A |
10: 18,106,188 (GRCm39) |
S46F |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,155,125 (GRCm39) |
G1122S |
probably benign |
Het |
| Cenpw |
T |
G |
10: 30,076,455 (GRCm39) |
T8P |
probably benign |
Het |
| Cfap44 |
G |
C |
16: 44,253,785 (GRCm39) |
G893R |
possibly damaging |
Het |
| Cimap3 |
A |
T |
3: 105,906,886 (GRCm39) |
M171K |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,938,323 (GRCm39) |
C110S |
probably damaging |
Het |
| Cstl1 |
A |
G |
2: 148,597,245 (GRCm39) |
N134S |
probably damaging |
Het |
| Cyp2s1 |
G |
T |
7: 25,511,114 (GRCm39) |
|
probably null |
Het |
| Dio2 |
T |
A |
12: 90,696,617 (GRCm39) |
N124Y |
probably damaging |
Het |
| Ecel1 |
C |
A |
1: 87,082,248 (GRCm39) |
G155V |
possibly damaging |
Het |
| Efr3a |
G |
T |
15: 65,717,830 (GRCm39) |
V337F |
possibly damaging |
Het |
| Eva1b |
A |
C |
4: 126,043,446 (GRCm39) |
H162P |
probably damaging |
Het |
| Exoc5 |
C |
T |
14: 49,273,493 (GRCm39) |
E301K |
probably damaging |
Het |
| F13b |
G |
A |
1: 139,435,941 (GRCm39) |
S249N |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,646,446 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,231 (GRCm39) |
L396S |
probably damaging |
Het |
| Gck |
T |
A |
11: 5,859,139 (GRCm39) |
K143* |
probably null |
Het |
| Gck |
C |
A |
11: 5,860,370 (GRCm39) |
V91L |
probably damaging |
Het |
| Glt8d2 |
T |
C |
10: 82,496,644 (GRCm39) |
N138S |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,387 (GRCm39) |
F119L |
probably benign |
Het |
| Igsf11 |
T |
C |
16: 38,829,240 (GRCm39) |
S45P |
probably damaging |
Het |
| Iho1 |
T |
C |
9: 108,289,695 (GRCm39) |
T176A |
probably damaging |
Het |
| Il10 |
G |
A |
1: 130,950,271 (GRCm39) |
V142M |
probably damaging |
Het |
| Insc |
A |
T |
7: 114,368,237 (GRCm39) |
H9L |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,786,740 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
A |
G |
8: 95,825,050 (GRCm39) |
S611G |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,947,459 (GRCm39) |
I463T |
possibly damaging |
Het |
| Lao1 |
A |
G |
4: 118,821,399 (GRCm39) |
N90S |
probably benign |
Het |
| Med16 |
T |
A |
10: 79,732,635 (GRCm39) |
M710L |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Mtus1 |
G |
A |
8: 41,469,233 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,950,682 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
C |
T |
2: 25,138,366 (GRCm39) |
V405M |
possibly damaging |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nme8 |
T |
C |
13: 19,862,018 (GRCm39) |
I204V |
probably benign |
Het |
| Nup133 |
A |
T |
8: 124,656,082 (GRCm39) |
N466K |
probably benign |
Het |
| Nxt1 |
A |
G |
2: 148,517,390 (GRCm39) |
T44A |
probably benign |
Het |
| Or14c46 |
T |
C |
7: 85,918,187 (GRCm39) |
E270G |
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,832 (GRCm39) |
I103N |
probably benign |
Het |
| Or2y12 |
C |
T |
11: 49,426,401 (GRCm39) |
L130F |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,669 (GRCm39) |
T239A |
probably damaging |
Het |
| Or4f7 |
A |
T |
2: 111,644,699 (GRCm39) |
I124K |
possibly damaging |
Het |
| Or7e168 |
C |
T |
9: 19,720,165 (GRCm39) |
L184F |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,263,827 (GRCm39) |
K275R |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,099,398 (GRCm39) |
|
probably null |
Het |
| Phldb2 |
A |
C |
16: 45,591,029 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
C |
A |
5: 128,824,387 (GRCm39) |
S490Y |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,501 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,449,034 (GRCm39) |
|
probably benign |
Het |
| Psg19 |
C |
T |
7: 18,530,942 (GRCm39) |
V71I |
possibly damaging |
Het |
| Ptk6 |
T |
C |
2: 180,838,724 (GRCm39) |
|
probably benign |
Het |
| Pus7 |
A |
G |
5: 23,983,090 (GRCm39) |
S126P |
probably damaging |
Het |
| Rab6b |
T |
A |
9: 103,017,576 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,272 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,570,214 (GRCm39) |
|
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,186,701 (GRCm39) |
L866Q |
probably damaging |
Het |
| Slc25a34 |
A |
G |
4: 141,349,663 (GRCm39) |
V164A |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,751,898 (GRCm39) |
|
probably null |
Het |
| Spin1 |
G |
T |
13: 51,303,048 (GRCm39) |
V214L |
probably benign |
Het |
| Spmip2 |
A |
T |
3: 79,313,142 (GRCm39) |
Y72F |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,092,289 (GRCm39) |
N492S |
probably benign |
Het |
| Stk-ps2 |
A |
G |
1: 46,068,955 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7f |
T |
C |
10: 23,926,312 (GRCm39) |
I302T |
probably benign |
Het |
| Tdrd1 |
C |
A |
19: 56,831,630 (GRCm39) |
H340Q |
probably benign |
Het |
| Thumpd3 |
A |
G |
6: 113,044,762 (GRCm39) |
D498G |
probably benign |
Het |
| Tpgs2 |
A |
G |
18: 25,282,242 (GRCm39) |
L103P |
probably damaging |
Het |
| Trip10 |
A |
G |
17: 57,568,633 (GRCm39) |
|
probably null |
Het |
| Trip6 |
A |
T |
5: 137,310,436 (GRCm39) |
H269Q |
probably benign |
Het |
| Trmt12 |
T |
C |
15: 58,744,743 (GRCm39) |
V47A |
possibly damaging |
Het |
| Tsks |
G |
A |
7: 44,603,883 (GRCm39) |
A438T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,630 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,155 (GRCm39) |
V136M |
possibly damaging |
Het |
| Uty |
A |
C |
Y: 1,197,223 (GRCm39) |
Y115D |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,380 (GRCm39) |
S2055P |
probably damaging |
Het |
| Yes1 |
A |
G |
5: 32,842,039 (GRCm39) |
Q521R |
possibly damaging |
Het |
| Zfp114 |
A |
T |
7: 23,880,685 (GRCm39) |
T344S |
possibly damaging |
Het |
| Zfp661 |
A |
T |
2: 127,420,532 (GRCm39) |
V89D |
possibly damaging |
Het |
| Zfp91 |
A |
T |
19: 12,747,834 (GRCm39) |
Y430N |
probably damaging |
Het |
|
| Other mutations in Trpm7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Trpm7
|
APN |
2 |
126,670,951 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01084:Trpm7
|
APN |
2 |
126,687,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01634:Trpm7
|
APN |
2 |
126,668,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01678:Trpm7
|
APN |
2 |
126,658,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02005:Trpm7
|
APN |
2 |
126,655,104 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02064:Trpm7
|
APN |
2 |
126,639,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Trpm7
|
APN |
2 |
126,641,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02172:Trpm7
|
APN |
2 |
126,637,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02334:Trpm7
|
APN |
2 |
126,649,282 (GRCm39) |
missense |
probably benign |
|
|
IGL02375:Trpm7
|
APN |
2 |
126,667,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02388:Trpm7
|
APN |
2 |
126,661,811 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02552:Trpm7
|
APN |
2 |
126,682,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02684:Trpm7
|
APN |
2 |
126,688,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02901:Trpm7
|
APN |
2 |
126,649,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
Accused
|
UTSW |
2 |
126,668,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Condemned
|
UTSW |
2 |
126,677,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
denounced
|
UTSW |
2 |
126,654,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
deposed
|
UTSW |
2 |
126,639,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
Summac
|
UTSW |
2 |
126,661,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Vacated
|
UTSW |
2 |
126,691,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0037:Trpm7
|
UTSW |
2 |
126,658,677 (GRCm39) |
splice site |
probably benign |
|
|
R0038:Trpm7
|
UTSW |
2 |
126,637,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Trpm7
|
UTSW |
2 |
126,639,433 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0511:Trpm7
|
UTSW |
2 |
126,668,638 (GRCm39) |
nonsense |
probably null |
|
|
R0543:Trpm7
|
UTSW |
2 |
126,690,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Trpm7
|
UTSW |
2 |
126,687,992 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0844:Trpm7
|
UTSW |
2 |
126,677,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Trpm7
|
UTSW |
2 |
126,641,159 (GRCm39) |
splice site |
probably null |
|
|
R0919:Trpm7
|
UTSW |
2 |
126,673,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Trpm7
|
UTSW |
2 |
126,646,969 (GRCm39) |
missense |
probably benign |
|
|
R1109:Trpm7
|
UTSW |
2 |
126,639,713 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1118:Trpm7
|
UTSW |
2 |
126,664,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1278:Trpm7
|
UTSW |
2 |
126,667,374 (GRCm39) |
nonsense |
probably null |
|
|
R1527:Trpm7
|
UTSW |
2 |
126,672,082 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1542:Trpm7
|
UTSW |
2 |
126,664,519 (GRCm39) |
nonsense |
probably null |
|
|
R1882:Trpm7
|
UTSW |
2 |
126,654,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1951:Trpm7
|
UTSW |
2 |
126,673,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Trpm7
|
UTSW |
2 |
126,665,917 (GRCm39) |
nonsense |
probably null |
|
|
R2012:Trpm7
|
UTSW |
2 |
126,665,917 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Trpm7
|
UTSW |
2 |
126,654,658 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2067:Trpm7
|
UTSW |
2 |
126,639,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Trpm7
|
UTSW |
2 |
126,700,329 (GRCm39) |
splice site |
probably benign |
|
|
R3082:Trpm7
|
UTSW |
2 |
126,686,342 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3552:Trpm7
|
UTSW |
2 |
126,668,630 (GRCm39) |
splice site |
probably benign |
|
|
R3607:Trpm7
|
UTSW |
2 |
126,638,348 (GRCm39) |
intron |
probably benign |
|
|
R3739:Trpm7
|
UTSW |
2 |
126,693,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3943:Trpm7
|
UTSW |
2 |
126,673,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4161:Trpm7
|
UTSW |
2 |
126,658,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Trpm7
|
UTSW |
2 |
126,671,083 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4392:Trpm7
|
UTSW |
2 |
126,690,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4392:Trpm7
|
UTSW |
2 |
126,637,429 (GRCm39) |
splice site |
probably null |
|
|
R4404:Trpm7
|
UTSW |
2 |
126,675,635 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4574:Trpm7
|
UTSW |
2 |
126,639,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4714:Trpm7
|
UTSW |
2 |
126,682,703 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Trpm7
|
UTSW |
2 |
126,673,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4815:Trpm7
|
UTSW |
2 |
126,700,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Trpm7
|
UTSW |
2 |
126,655,105 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4972:Trpm7
|
UTSW |
2 |
126,665,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Trpm7
|
UTSW |
2 |
126,638,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5263:Trpm7
|
UTSW |
2 |
126,663,137 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5361:Trpm7
|
UTSW |
2 |
126,671,161 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5377:Trpm7
|
UTSW |
2 |
126,684,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5574:Trpm7
|
UTSW |
2 |
126,654,950 (GRCm39) |
missense |
probably benign |
|
|
R5782:Trpm7
|
UTSW |
2 |
126,639,634 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5840:Trpm7
|
UTSW |
2 |
126,664,531 (GRCm39) |
nonsense |
probably null |
|
|
R6044:Trpm7
|
UTSW |
2 |
126,656,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Trpm7
|
UTSW |
2 |
126,679,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6196:Trpm7
|
UTSW |
2 |
126,667,559 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6457:Trpm7
|
UTSW |
2 |
126,649,214 (GRCm39) |
missense |
probably benign |
|
|
R6530:Trpm7
|
UTSW |
2 |
126,654,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Trpm7
|
UTSW |
2 |
126,686,340 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6841:Trpm7
|
UTSW |
2 |
126,654,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6868:Trpm7
|
UTSW |
2 |
126,679,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Trpm7
|
UTSW |
2 |
126,668,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7402:Trpm7
|
UTSW |
2 |
126,641,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Trpm7
|
UTSW |
2 |
126,668,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Trpm7
|
UTSW |
2 |
126,673,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7509:Trpm7
|
UTSW |
2 |
126,691,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Trpm7
|
UTSW |
2 |
126,652,085 (GRCm39) |
missense |
probably benign |
|
|
R7774:Trpm7
|
UTSW |
2 |
126,655,158 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7793:Trpm7
|
UTSW |
2 |
126,665,995 (GRCm39) |
nonsense |
probably null |
|
|
R7812:Trpm7
|
UTSW |
2 |
126,641,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7900:Trpm7
|
UTSW |
2 |
126,639,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7951:Trpm7
|
UTSW |
2 |
126,655,188 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7965:Trpm7
|
UTSW |
2 |
126,667,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7992:Trpm7
|
UTSW |
2 |
126,667,454 (GRCm39) |
missense |
probably benign |
|
|
R8034:Trpm7
|
UTSW |
2 |
126,688,119 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8199:Trpm7
|
UTSW |
2 |
126,691,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Trpm7
|
UTSW |
2 |
126,639,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Trpm7
|
UTSW |
2 |
126,658,755 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8674:Trpm7
|
UTSW |
2 |
126,641,086 (GRCm39) |
unclassified |
probably benign |
|
|
R8742:Trpm7
|
UTSW |
2 |
126,667,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Trpm7
|
UTSW |
2 |
126,664,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Trpm7
|
UTSW |
2 |
126,663,131 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8850:Trpm7
|
UTSW |
2 |
126,652,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Trpm7
|
UTSW |
2 |
126,661,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Trpm7
|
UTSW |
2 |
126,664,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9339:Trpm7
|
UTSW |
2 |
126,665,906 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9428:Trpm7
|
UTSW |
2 |
126,671,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9446:Trpm7
|
UTSW |
2 |
126,672,185 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9568:Trpm7
|
UTSW |
2 |
126,664,510 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9647:Trpm7
|
UTSW |
2 |
126,667,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9678:Trpm7
|
UTSW |
2 |
126,686,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Trpm7
|
UTSW |
2 |
126,664,578 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0026:Trpm7
|
UTSW |
2 |
126,671,210 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Trpm7
|
UTSW |
2 |
126,639,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTAATGGCACCAAGCACGTACC -3'
(R):5'- TGCCCGTGATACCCCAGAGAAAAG -3'
Sequencing Primer
(F):5'- CGTACCTAGCAATATACTTCTTCAG -3'
(R):5'- AACATTCCAGAGGCTGGTTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation