Incidental Mutation 'R1991:Trpm6'
ID |
225281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpm6
|
Ensembl Gene |
ENSMUSG00000024727 |
Gene Name |
transient receptor potential cation channel, subfamily M, member 6 |
Synonyms |
CHAK2 |
MMRRC Submission |
040002-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1991 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
18749983-18892510 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18796284 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 380
(H380L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040489]
|
AlphaFold |
Q8CIR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040489
AA Change: H380L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037443 Gene: ENSMUSG00000024727 AA Change: H380L
Domain | Start | End | E-Value | Type |
Blast:ANK
|
430 |
459 |
4e-8 |
BLAST |
low complexity region
|
580 |
604 |
N/A |
INTRINSIC |
transmembrane domain
|
749 |
766 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
847 |
1087 |
2.8e-13 |
PFAM |
low complexity region
|
1113 |
1126 |
N/A |
INTRINSIC |
low complexity region
|
1136 |
1154 |
N/A |
INTRINSIC |
Pfam:TRPM_tetra
|
1176 |
1231 |
7.5e-27 |
PFAM |
low complexity region
|
1320 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1578 |
1596 |
N/A |
INTRINSIC |
Blast:Alpha_kinase
|
1618 |
1673 |
9e-11 |
BLAST |
low complexity region
|
1682 |
1695 |
N/A |
INTRINSIC |
Alpha_kinase
|
1761 |
1978 |
1e-84 |
SMART |
|
Meta Mutation Damage Score |
0.0898  |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
100% (124/124) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and postnatal lethality with exencephaly, spina bifida occulta, and abnormal brain and facial development. Mice heterozygous for a knock-out allele exhibit some premature death and decreased serummagnesium. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 123 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 138,065,658 (GRCm38) |
R203* |
probably null |
Het |
Abcc2 |
A |
T |
19: 43,807,142 (GRCm38) |
I446F |
probably damaging |
Het |
Afap1l2 |
A |
T |
19: 57,002,267 (GRCm38) |
I18N |
possibly damaging |
Het |
Aida |
A |
T |
1: 183,313,692 (GRCm38) |
E107D |
probably benign |
Het |
Amer2 |
A |
G |
14: 60,379,820 (GRCm38) |
Y362C |
probably damaging |
Het |
Amigo1 |
T |
C |
3: 108,187,328 (GRCm38) |
S48P |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,537,813 (GRCm38) |
K50R |
possibly damaging |
Het |
Anxa2 |
A |
T |
9: 69,483,816 (GRCm38) |
D95V |
probably damaging |
Het |
Arhgap22 |
A |
G |
14: 33,366,959 (GRCm38) |
N466D |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,293,142 (GRCm38) |
Y575H |
probably damaging |
Het |
Ascc2 |
A |
G |
11: 4,679,257 (GRCm38) |
E523G |
probably benign |
Het |
B3galt5 |
A |
T |
16: 96,316,025 (GRCm38) |
K286M |
probably damaging |
Het |
Bag3 |
C |
T |
7: 128,545,683 (GRCm38) |
H341Y |
probably benign |
Het |
Blm |
G |
T |
7: 80,505,949 (GRCm38) |
|
probably null |
Het |
Cacna1b |
G |
A |
2: 24,732,306 (GRCm38) |
P222L |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,637,881 (GRCm38) |
Y175N |
possibly damaging |
Het |
Cd81 |
G |
T |
7: 143,067,201 (GRCm38) |
G206* |
probably null |
Het |
Cep290 |
T |
A |
10: 100,531,184 (GRCm38) |
S1132R |
possibly damaging |
Het |
Cluh |
C |
A |
11: 74,659,529 (GRCm38) |
C222* |
probably null |
Het |
Col14a1 |
A |
T |
15: 55,449,940 (GRCm38) |
D1320V |
unknown |
Het |
Col18a1 |
T |
C |
10: 77,081,154 (GRCm38) |
I114V |
unknown |
Het |
Cped1 |
A |
G |
6: 22,233,927 (GRCm38) |
T847A |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,127,437 (GRCm38) |
K288E |
possibly damaging |
Het |
Cr2 |
G |
A |
1: 195,154,150 (GRCm38) |
P1278S |
possibly damaging |
Het |
Creb3 |
C |
A |
4: 43,565,327 (GRCm38) |
R202S |
probably damaging |
Het |
Cyp2j9 |
T |
A |
4: 96,571,964 (GRCm38) |
K434M |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,905,106 (GRCm38) |
V48E |
probably null |
Het |
Dsg2 |
A |
G |
18: 20,601,473 (GRCm38) |
K836R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,190,258 (GRCm38) |
T1986A |
probably benign |
Het |
Dvl1 |
G |
A |
4: 155,847,816 (GRCm38) |
V28I |
possibly damaging |
Het |
Ecm2 |
A |
G |
13: 49,530,256 (GRCm38) |
D570G |
probably benign |
Het |
Efhc1 |
T |
A |
1: 20,989,560 (GRCm38) |
C611* |
probably null |
Het |
Epop |
T |
C |
11: 97,628,654 (GRCm38) |
T210A |
probably benign |
Het |
Erc2 |
A |
G |
14: 28,011,636 (GRCm38) |
I556V |
probably benign |
Het |
Fdxacb1 |
A |
T |
9: 50,771,646 (GRCm38) |
N101I |
probably benign |
Het |
Fhad1 |
T |
C |
4: 141,982,162 (GRCm38) |
S294G |
possibly damaging |
Het |
Galnt16 |
A |
G |
12: 80,583,656 (GRCm38) |
D262G |
probably damaging |
Het |
Gm9573 |
A |
T |
17: 35,618,708 (GRCm38) |
S1529T |
probably benign |
Het |
Gorab |
A |
G |
1: 163,397,056 (GRCm38) |
S59P |
probably damaging |
Het |
Gpr161 |
G |
T |
1: 165,306,563 (GRCm38) |
M131I |
probably damaging |
Het |
Gpr22 |
T |
A |
12: 31,709,203 (GRCm38) |
M270L |
probably benign |
Het |
Grin3b |
C |
T |
10: 79,974,646 (GRCm38) |
A662V |
probably damaging |
Het |
Grin3b |
C |
A |
10: 79,970,912 (GRCm38) |
Q5K |
probably benign |
Het |
Gsdmc |
A |
G |
15: 63,801,899 (GRCm38) |
I179T |
probably benign |
Het |
Gsdmc2 |
T |
A |
15: 63,828,237 (GRCm38) |
M229L |
probably benign |
Het |
H2-Eb2 |
A |
G |
17: 34,334,304 (GRCm38) |
I155V |
probably benign |
Het |
Hoga1 |
A |
C |
19: 42,060,020 (GRCm38) |
|
probably null |
Het |
Hs3st5 |
A |
G |
10: 36,832,886 (GRCm38) |
Y139C |
probably damaging |
Het |
Il10ra |
C |
A |
9: 45,255,811 (GRCm38) |
A481S |
probably benign |
Het |
Ints2 |
T |
A |
11: 86,248,934 (GRCm38) |
H278L |
possibly damaging |
Het |
Kalrn |
T |
G |
16: 33,975,738 (GRCm38) |
L1222F |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,866,732 (GRCm38) |
V157D |
probably damaging |
Het |
Klk1b26 |
A |
T |
7: 44,016,900 (GRCm38) |
T256S |
probably damaging |
Het |
Krt81 |
T |
C |
15: 101,462,554 (GRCm38) |
Q184R |
probably benign |
Het |
Lce1k |
A |
T |
3: 92,806,818 (GRCm38) |
C20S |
unknown |
Het |
Letm1 |
A |
AG |
5: 33,769,515 (GRCm38) |
|
probably null |
Het |
Lin54 |
A |
G |
5: 100,485,801 (GRCm38) |
|
probably null |
Het |
Lrrc37a |
T |
C |
11: 103,500,261 (GRCm38) |
E1446G |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,456,695 (GRCm38) |
S3792P |
probably damaging |
Het |
Manba |
T |
A |
3: 135,551,191 (GRCm38) |
D538E |
probably benign |
Het |
Mcc |
C |
A |
18: 44,491,315 (GRCm38) |
E213* |
probably null |
Het |
Mfap4 |
T |
C |
11: 61,485,807 (GRCm38) |
|
probably null |
Het |
Nebl |
T |
A |
2: 17,452,510 (GRCm38) |
I80F |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,956,953 (GRCm38) |
I145V |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 107,196,200 (GRCm38) |
V230A |
probably benign |
Het |
Nxf3 |
G |
A |
X: 136,075,834 (GRCm38) |
P380S |
possibly damaging |
Het |
Olfr1451 |
T |
C |
19: 12,999,502 (GRCm38) |
V172A |
possibly damaging |
Het |
Olfr403 |
T |
C |
11: 74,196,163 (GRCm38) |
V220A |
probably damaging |
Het |
Olfr421-ps1 |
C |
T |
1: 174,152,121 (GRCm38) |
H202Y |
probably damaging |
Het |
Olfr490 |
C |
A |
7: 108,286,359 (GRCm38) |
G256* |
probably null |
Het |
Olfr745 |
G |
A |
14: 50,642,866 (GRCm38) |
C195Y |
possibly damaging |
Het |
Pcdhb13 |
C |
T |
18: 37,443,859 (GRCm38) |
T430I |
possibly damaging |
Het |
Piezo2 |
A |
T |
18: 63,074,662 (GRCm38) |
L1426Q |
probably null |
Het |
Pigk |
T |
A |
3: 152,744,494 (GRCm38) |
Y212N |
probably damaging |
Het |
Pigm |
T |
G |
1: 172,377,261 (GRCm38) |
L188R |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,777,924 (GRCm38) |
F2117S |
probably damaging |
Het |
Plec |
A |
G |
15: 76,173,543 (GRCm38) |
F4055L |
probably damaging |
Het |
Plk5 |
C |
T |
10: 80,363,102 (GRCm38) |
S435L |
possibly damaging |
Het |
Pms1 |
G |
A |
1: 53,282,042 (GRCm38) |
L11F |
probably damaging |
Het |
Prl3b1 |
C |
T |
13: 27,247,912 (GRCm38) |
T140I |
possibly damaging |
Het |
Prl7a1 |
T |
G |
13: 27,633,672 (GRCm38) |
D203A |
probably damaging |
Het |
Psg17 |
A |
G |
7: 18,814,652 (GRCm38) |
V398A |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,718,218 (GRCm38) |
I166K |
possibly damaging |
Het |
R3hdm1 |
T |
A |
1: 128,169,016 (GRCm38) |
D108E |
probably damaging |
Het |
Reln |
A |
T |
5: 21,969,360 (GRCm38) |
D1948E |
possibly damaging |
Het |
Rnf112 |
C |
T |
11: 61,452,426 (GRCm38) |
R141Q |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,561,466 (GRCm38) |
V424A |
possibly damaging |
Het |
Serpina3m |
C |
A |
12: 104,389,699 (GRCm38) |
Y208* |
probably null |
Het |
Serpind1 |
T |
C |
16: 17,342,944 (GRCm38) |
V446A |
probably benign |
Het |
Shc3 |
T |
A |
13: 51,442,836 (GRCm38) |
M384L |
probably benign |
Het |
Slc38a11 |
A |
G |
2: 65,330,339 (GRCm38) |
F304L |
probably benign |
Het |
Slpi |
C |
T |
2: 164,355,543 (GRCm38) |
C28Y |
probably damaging |
Het |
Specc1 |
C |
A |
11: 62,029,294 (GRCm38) |
P7T |
possibly damaging |
Het |
Spib |
T |
C |
7: 44,528,857 (GRCm38) |
E180G |
probably benign |
Het |
Spint5 |
T |
C |
2: 164,716,983 (GRCm38) |
|
probably benign |
Het |
Ssr2 |
T |
A |
3: 88,576,867 (GRCm38) |
|
probably benign |
Het |
Tbrg1 |
T |
C |
9: 37,649,419 (GRCm38) |
D387G |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,549,470 (GRCm38) |
L1367R |
probably damaging |
Het |
Tfpi |
A |
C |
2: 84,458,016 (GRCm38) |
|
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,974,347 (GRCm38) |
D405E |
probably damaging |
Het |
Tnnt3 |
C |
T |
7: 142,511,525 (GRCm38) |
R131C |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,682,251 (GRCm38) |
Y1013C |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,671,904 (GRCm38) |
V407A |
probably damaging |
Het |
Tpx2 |
T |
A |
2: 152,890,624 (GRCm38) |
M606K |
probably benign |
Het |
Trim30a |
T |
A |
7: 104,430,230 (GRCm38) |
|
probably benign |
Het |
Trim46 |
A |
T |
3: 89,237,701 (GRCm38) |
Y489N |
probably damaging |
Het |
Tstd2 |
A |
G |
4: 46,120,563 (GRCm38) |
I279T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,946,391 (GRCm38) |
|
probably null |
Het |
Txnl1 |
T |
C |
18: 63,679,514 (GRCm38) |
T70A |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,578,532 (GRCm38) |
|
probably benign |
Het |
Usp1 |
A |
G |
4: 98,934,294 (GRCm38) |
D615G |
probably benign |
Het |
Virma |
T |
A |
4: 11,519,242 (GRCm38) |
C830S |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,024,868 (GRCm38) |
S136T |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,846,439 (GRCm38) |
V448A |
probably damaging |
Het |
Vps11 |
G |
A |
9: 44,359,227 (GRCm38) |
H183Y |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,467,468 (GRCm38) |
T476A |
possibly damaging |
Het |
Wdr63 |
G |
T |
3: 146,063,480 (GRCm38) |
T522K |
possibly damaging |
Het |
Whamm |
C |
T |
7: 81,591,771 (GRCm38) |
R277* |
probably null |
Het |
Wnt8a |
A |
G |
18: 34,544,884 (GRCm38) |
D115G |
probably damaging |
Het |
Xndc1 |
T |
A |
7: 102,073,191 (GRCm38) |
V21E |
probably damaging |
Het |
Zc3hav1 |
C |
A |
6: 38,336,517 (GRCm38) |
V198L |
probably damaging |
Het |
Zfp874a |
T |
A |
13: 67,442,504 (GRCm38) |
I354F |
probably benign |
Het |
Zfr2 |
A |
T |
10: 81,242,852 (GRCm38) |
D306V |
possibly damaging |
Het |
|
Other mutations in Trpm6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00540:Trpm6
|
APN |
19 |
18,783,908 (GRCm38) |
splice site |
probably benign |
|
IGL00862:Trpm6
|
APN |
19 |
18,827,528 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01348:Trpm6
|
APN |
19 |
18,877,651 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01400:Trpm6
|
APN |
19 |
18,825,794 (GRCm38) |
nonsense |
probably null |
|
IGL01451:Trpm6
|
APN |
19 |
18,809,569 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01508:Trpm6
|
APN |
19 |
18,796,530 (GRCm38) |
nonsense |
probably null |
|
IGL01995:Trpm6
|
APN |
19 |
18,830,327 (GRCm38) |
splice site |
probably benign |
|
IGL02092:Trpm6
|
APN |
19 |
18,772,331 (GRCm38) |
missense |
possibly damaging |
0.59 |
IGL02152:Trpm6
|
APN |
19 |
18,832,539 (GRCm38) |
missense |
possibly damaging |
0.93 |
IGL02294:Trpm6
|
APN |
19 |
18,854,063 (GRCm38) |
missense |
probably benign |
|
IGL02329:Trpm6
|
APN |
19 |
18,854,217 (GRCm38) |
missense |
probably benign |
0.17 |
IGL02366:Trpm6
|
APN |
19 |
18,778,510 (GRCm38) |
splice site |
probably benign |
|
IGL02402:Trpm6
|
APN |
19 |
18,786,756 (GRCm38) |
missense |
probably benign |
0.18 |
IGL02457:Trpm6
|
APN |
19 |
18,827,398 (GRCm38) |
nonsense |
probably null |
|
IGL02457:Trpm6
|
APN |
19 |
18,825,791 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02684:Trpm6
|
APN |
19 |
18,802,207 (GRCm38) |
splice site |
probably benign |
|
IGL02705:Trpm6
|
APN |
19 |
18,776,733 (GRCm38) |
critical splice donor site |
probably null |
|
IGL02728:Trpm6
|
APN |
19 |
18,809,652 (GRCm38) |
missense |
possibly damaging |
0.71 |
IGL02742:Trpm6
|
APN |
19 |
18,830,012 (GRCm38) |
splice site |
probably benign |
|
IGL02818:Trpm6
|
APN |
19 |
18,866,257 (GRCm38) |
missense |
probably benign |
0.04 |
IGL02836:Trpm6
|
APN |
19 |
18,813,482 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03119:Trpm6
|
APN |
19 |
18,838,017 (GRCm38) |
nonsense |
probably null |
|
IGL03193:Trpm6
|
APN |
19 |
18,825,872 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL03227:Trpm6
|
APN |
19 |
18,786,779 (GRCm38) |
missense |
probably benign |
0.12 |
IGL03227:Trpm6
|
APN |
19 |
18,819,119 (GRCm38) |
missense |
probably benign |
0.01 |
IGL03231:Trpm6
|
APN |
19 |
18,819,181 (GRCm38) |
missense |
probably benign |
|
IGL03245:Trpm6
|
APN |
19 |
18,877,701 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03328:Trpm6
|
APN |
19 |
18,838,082 (GRCm38) |
missense |
possibly damaging |
0.94 |
IGL03341:Trpm6
|
APN |
19 |
18,813,486 (GRCm38) |
missense |
probably benign |
|
P0043:Trpm6
|
UTSW |
19 |
18,877,765 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4260001:Trpm6
|
UTSW |
19 |
18,825,802 (GRCm38) |
missense |
possibly damaging |
0.48 |
R0057:Trpm6
|
UTSW |
19 |
18,786,755 (GRCm38) |
missense |
probably benign |
0.05 |
R0115:Trpm6
|
UTSW |
19 |
18,829,952 (GRCm38) |
missense |
probably damaging |
0.98 |
R0119:Trpm6
|
UTSW |
19 |
18,832,593 (GRCm38) |
missense |
probably benign |
0.05 |
R0140:Trpm6
|
UTSW |
19 |
18,819,194 (GRCm38) |
splice site |
probably null |
|
R0267:Trpm6
|
UTSW |
19 |
18,823,378 (GRCm38) |
missense |
probably benign |
|
R0350:Trpm6
|
UTSW |
19 |
18,883,957 (GRCm38) |
splice site |
probably null |
|
R0373:Trpm6
|
UTSW |
19 |
18,853,587 (GRCm38) |
missense |
probably benign |
0.15 |
R0393:Trpm6
|
UTSW |
19 |
18,778,644 (GRCm38) |
missense |
probably damaging |
0.99 |
R0416:Trpm6
|
UTSW |
19 |
18,783,025 (GRCm38) |
splice site |
probably benign |
|
R0505:Trpm6
|
UTSW |
19 |
18,873,902 (GRCm38) |
splice site |
probably benign |
|
R0526:Trpm6
|
UTSW |
19 |
18,792,876 (GRCm38) |
missense |
probably damaging |
0.97 |
R0607:Trpm6
|
UTSW |
19 |
18,872,221 (GRCm38) |
missense |
probably benign |
0.00 |
R0609:Trpm6
|
UTSW |
19 |
18,825,862 (GRCm38) |
missense |
probably damaging |
0.97 |
R0714:Trpm6
|
UTSW |
19 |
18,838,087 (GRCm38) |
missense |
possibly damaging |
0.90 |
R1215:Trpm6
|
UTSW |
19 |
18,796,498 (GRCm38) |
missense |
probably damaging |
1.00 |
R1474:Trpm6
|
UTSW |
19 |
18,796,495 (GRCm38) |
missense |
probably benign |
0.28 |
R1512:Trpm6
|
UTSW |
19 |
18,875,931 (GRCm38) |
missense |
probably benign |
|
R1558:Trpm6
|
UTSW |
19 |
18,786,828 (GRCm38) |
missense |
probably benign |
0.04 |
R1597:Trpm6
|
UTSW |
19 |
18,827,524 (GRCm38) |
missense |
probably damaging |
0.98 |
R1618:Trpm6
|
UTSW |
19 |
18,877,631 (GRCm38) |
missense |
possibly damaging |
0.88 |
R1779:Trpm6
|
UTSW |
19 |
18,856,217 (GRCm38) |
missense |
probably damaging |
1.00 |
R1796:Trpm6
|
UTSW |
19 |
18,827,567 (GRCm38) |
missense |
possibly damaging |
0.90 |
R1799:Trpm6
|
UTSW |
19 |
18,891,999 (GRCm38) |
splice site |
probably null |
|
R1840:Trpm6
|
UTSW |
19 |
18,866,267 (GRCm38) |
missense |
probably benign |
0.21 |
R2030:Trpm6
|
UTSW |
19 |
18,854,265 (GRCm38) |
missense |
probably benign |
|
R2073:Trpm6
|
UTSW |
19 |
18,876,042 (GRCm38) |
missense |
probably damaging |
1.00 |
R2074:Trpm6
|
UTSW |
19 |
18,877,739 (GRCm38) |
missense |
probably damaging |
1.00 |
R2096:Trpm6
|
UTSW |
19 |
18,825,752 (GRCm38) |
missense |
probably damaging |
0.97 |
R2103:Trpm6
|
UTSW |
19 |
18,796,284 (GRCm38) |
missense |
probably benign |
0.00 |
R2106:Trpm6
|
UTSW |
19 |
18,813,350 (GRCm38) |
missense |
possibly damaging |
0.95 |
R2117:Trpm6
|
UTSW |
19 |
18,829,952 (GRCm38) |
missense |
probably damaging |
0.98 |
R2850:Trpm6
|
UTSW |
19 |
18,792,090 (GRCm38) |
missense |
possibly damaging |
0.68 |
R3125:Trpm6
|
UTSW |
19 |
18,854,431 (GRCm38) |
missense |
probably benign |
0.05 |
R3719:Trpm6
|
UTSW |
19 |
18,772,393 (GRCm38) |
nonsense |
probably null |
|
R3779:Trpm6
|
UTSW |
19 |
18,876,039 (GRCm38) |
missense |
possibly damaging |
0.80 |
R4115:Trpm6
|
UTSW |
19 |
18,832,557 (GRCm38) |
missense |
probably damaging |
1.00 |
R4367:Trpm6
|
UTSW |
19 |
18,827,525 (GRCm38) |
missense |
probably damaging |
0.99 |
R4523:Trpm6
|
UTSW |
19 |
18,796,500 (GRCm38) |
missense |
probably damaging |
1.00 |
R4546:Trpm6
|
UTSW |
19 |
18,832,477 (GRCm38) |
missense |
probably damaging |
1.00 |
R4564:Trpm6
|
UTSW |
19 |
18,832,597 (GRCm38) |
missense |
possibly damaging |
0.95 |
R4565:Trpm6
|
UTSW |
19 |
18,825,872 (GRCm38) |
missense |
probably damaging |
1.00 |
R4697:Trpm6
|
UTSW |
19 |
18,853,791 (GRCm38) |
missense |
probably benign |
0.01 |
R4714:Trpm6
|
UTSW |
19 |
18,854,200 (GRCm38) |
missense |
possibly damaging |
0.93 |
R4750:Trpm6
|
UTSW |
19 |
18,876,064 (GRCm38) |
missense |
probably damaging |
0.99 |
R4771:Trpm6
|
UTSW |
19 |
18,813,493 (GRCm38) |
missense |
probably damaging |
0.97 |
R4791:Trpm6
|
UTSW |
19 |
18,867,981 (GRCm38) |
missense |
probably benign |
0.00 |
R4814:Trpm6
|
UTSW |
19 |
18,862,212 (GRCm38) |
missense |
probably benign |
0.11 |
R5028:Trpm6
|
UTSW |
19 |
18,786,760 (GRCm38) |
missense |
probably damaging |
1.00 |
R5237:Trpm6
|
UTSW |
19 |
18,813,464 (GRCm38) |
missense |
probably damaging |
1.00 |
R5615:Trpm6
|
UTSW |
19 |
18,829,933 (GRCm38) |
missense |
probably damaging |
0.96 |
R5642:Trpm6
|
UTSW |
19 |
18,830,207 (GRCm38) |
missense |
probably damaging |
1.00 |
R5645:Trpm6
|
UTSW |
19 |
18,853,604 (GRCm38) |
missense |
probably damaging |
1.00 |
R5726:Trpm6
|
UTSW |
19 |
18,853,617 (GRCm38) |
missense |
probably damaging |
1.00 |
R5832:Trpm6
|
UTSW |
19 |
18,786,819 (GRCm38) |
missense |
possibly damaging |
0.66 |
R5843:Trpm6
|
UTSW |
19 |
18,856,175 (GRCm38) |
missense |
probably benign |
0.04 |
R5955:Trpm6
|
UTSW |
19 |
18,892,019 (GRCm38) |
missense |
possibly damaging |
0.75 |
R6101:Trpm6
|
UTSW |
19 |
18,853,748 (GRCm38) |
nonsense |
probably null |
|
R6105:Trpm6
|
UTSW |
19 |
18,853,748 (GRCm38) |
nonsense |
probably null |
|
R6211:Trpm6
|
UTSW |
19 |
18,783,128 (GRCm38) |
missense |
probably damaging |
1.00 |
R6228:Trpm6
|
UTSW |
19 |
18,854,291 (GRCm38) |
missense |
probably damaging |
1.00 |
R6263:Trpm6
|
UTSW |
19 |
18,854,108 (GRCm38) |
missense |
possibly damaging |
0.94 |
R6453:Trpm6
|
UTSW |
19 |
18,829,990 (GRCm38) |
missense |
probably damaging |
1.00 |
R6562:Trpm6
|
UTSW |
19 |
18,838,042 (GRCm38) |
missense |
probably damaging |
1.00 |
R6624:Trpm6
|
UTSW |
19 |
18,889,020 (GRCm38) |
missense |
probably damaging |
1.00 |
R6624:Trpm6
|
UTSW |
19 |
18,796,439 (GRCm38) |
critical splice acceptor site |
probably null |
|
R6729:Trpm6
|
UTSW |
19 |
18,830,297 (GRCm38) |
missense |
probably damaging |
1.00 |
R6765:Trpm6
|
UTSW |
19 |
18,877,765 (GRCm38) |
missense |
probably damaging |
1.00 |
R6976:Trpm6
|
UTSW |
19 |
18,783,163 (GRCm38) |
missense |
probably benign |
|
R7103:Trpm6
|
UTSW |
19 |
18,813,547 (GRCm38) |
missense |
possibly damaging |
0.87 |
R7126:Trpm6
|
UTSW |
19 |
18,854,033 (GRCm38) |
nonsense |
probably null |
|
R7128:Trpm6
|
UTSW |
19 |
18,811,773 (GRCm38) |
missense |
possibly damaging |
0.92 |
R7157:Trpm6
|
UTSW |
19 |
18,838,098 (GRCm38) |
missense |
possibly damaging |
0.91 |
R7212:Trpm6
|
UTSW |
19 |
18,853,791 (GRCm38) |
missense |
probably benign |
0.01 |
R7263:Trpm6
|
UTSW |
19 |
18,876,786 (GRCm38) |
missense |
probably damaging |
1.00 |
R7268:Trpm6
|
UTSW |
19 |
18,778,585 (GRCm38) |
missense |
probably benign |
0.13 |
R7305:Trpm6
|
UTSW |
19 |
18,876,091 (GRCm38) |
missense |
probably benign |
0.30 |
R7498:Trpm6
|
UTSW |
19 |
18,876,120 (GRCm38) |
missense |
probably damaging |
1.00 |
R7558:Trpm6
|
UTSW |
19 |
18,778,665 (GRCm38) |
missense |
probably damaging |
0.96 |
R7590:Trpm6
|
UTSW |
19 |
18,832,581 (GRCm38) |
missense |
probably benign |
0.31 |
R7646:Trpm6
|
UTSW |
19 |
18,867,961 (GRCm38) |
missense |
probably benign |
0.10 |
R7650:Trpm6
|
UTSW |
19 |
18,876,013 (GRCm38) |
missense |
possibly damaging |
0.70 |
R7727:Trpm6
|
UTSW |
19 |
18,854,249 (GRCm38) |
missense |
probably damaging |
0.97 |
R7743:Trpm6
|
UTSW |
19 |
18,827,408 (GRCm38) |
missense |
probably benign |
0.03 |
R7747:Trpm6
|
UTSW |
19 |
18,750,045 (GRCm38) |
splice site |
probably null |
|
R7807:Trpm6
|
UTSW |
19 |
18,829,856 (GRCm38) |
missense |
probably benign |
0.11 |
R7870:Trpm6
|
UTSW |
19 |
18,815,241 (GRCm38) |
missense |
probably benign |
0.01 |
R7891:Trpm6
|
UTSW |
19 |
18,776,710 (GRCm38) |
missense |
probably benign |
0.01 |
R7955:Trpm6
|
UTSW |
19 |
18,854,290 (GRCm38) |
missense |
probably benign |
0.01 |
R7965:Trpm6
|
UTSW |
19 |
18,876,110 (GRCm38) |
missense |
probably damaging |
1.00 |
R7967:Trpm6
|
UTSW |
19 |
18,778,659 (GRCm38) |
missense |
probably damaging |
0.99 |
R7992:Trpm6
|
UTSW |
19 |
18,815,350 (GRCm38) |
missense |
probably damaging |
1.00 |
R8035:Trpm6
|
UTSW |
19 |
18,792,862 (GRCm38) |
missense |
probably damaging |
0.97 |
R8108:Trpm6
|
UTSW |
19 |
18,811,790 (GRCm38) |
missense |
probably damaging |
1.00 |
R8268:Trpm6
|
UTSW |
19 |
18,873,861 (GRCm38) |
missense |
possibly damaging |
0.85 |
R8411:Trpm6
|
UTSW |
19 |
18,853,968 (GRCm38) |
missense |
probably benign |
0.39 |
R8413:Trpm6
|
UTSW |
19 |
18,832,485 (GRCm38) |
missense |
probably benign |
0.00 |
R8534:Trpm6
|
UTSW |
19 |
18,892,095 (GRCm38) |
missense |
probably benign |
0.00 |
R8932:Trpm6
|
UTSW |
19 |
18,838,002 (GRCm38) |
missense |
possibly damaging |
0.87 |
R8990:Trpm6
|
UTSW |
19 |
18,815,435 (GRCm38) |
missense |
probably damaging |
1.00 |
R9403:Trpm6
|
UTSW |
19 |
18,832,652 (GRCm38) |
missense |
possibly damaging |
0.84 |
R9446:Trpm6
|
UTSW |
19 |
18,838,098 (GRCm38) |
missense |
possibly damaging |
0.91 |
R9463:Trpm6
|
UTSW |
19 |
18,783,900 (GRCm38) |
critical splice donor site |
probably null |
|
R9485:Trpm6
|
UTSW |
19 |
18,778,614 (GRCm38) |
missense |
probably benign |
0.06 |
R9536:Trpm6
|
UTSW |
19 |
18,786,759 (GRCm38) |
missense |
probably damaging |
1.00 |
R9549:Trpm6
|
UTSW |
19 |
18,876,030 (GRCm38) |
nonsense |
probably null |
|
R9564:Trpm6
|
UTSW |
19 |
18,873,876 (GRCm38) |
missense |
possibly damaging |
0.92 |
R9626:Trpm6
|
UTSW |
19 |
18,813,482 (GRCm38) |
missense |
probably damaging |
1.00 |
R9655:Trpm6
|
UTSW |
19 |
18,892,102 (GRCm38) |
missense |
probably benign |
|
R9721:Trpm6
|
UTSW |
19 |
18,829,972 (GRCm38) |
missense |
probably benign |
0.12 |
R9742:Trpm6
|
UTSW |
19 |
18,823,402 (GRCm38) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTTAAATGCTGATCTGTTTTG -3'
(R):5'- TGATATTGATAAGCTTGTACCTAGGGG -3'
Sequencing Primer
(F):5'- GAACTCACTCTGTAGATCAGGCTG -3'
(R):5'- GCTTGTACCTAGGGGGAAAG -3'
|
Posted On |
2014-08-25 |