Incidental Mutation 'R0601:Kcnh8'
| ID |
55458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh8
|
| Ensembl Gene |
ENSMUSG00000035580 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 8 |
| Synonyms |
ELK1, Kv12.1, C130090D05Rik |
| MMRRC Submission |
038790-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0601 (G1)
|
| Quality Score |
190 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
52909737-53286222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53201033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 489
(D489G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039366]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039366
AA Change: D489G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: D489G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
16 |
88 |
9e-35 |
BLAST |
|
PAC
|
94 |
136 |
3.42e-9 |
SMART |
|
Pfam:Ion_trans
|
221 |
481 |
4.9e-36 |
PFAM |
|
Pfam:Ion_trans_2
|
411 |
475 |
1.1e-12 |
PFAM |
|
cNMP
|
551 |
666 |
1.17e-16 |
SMART |
|
low complexity region
|
710 |
722 |
N/A |
INTRINSIC |
|
coiled coil region
|
853 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1036 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4179 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
98% (119/122) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 119 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
G |
14: 35,532,146 (GRCm39) |
D143A |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,007,884 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,223,309 (GRCm39) |
|
probably benign |
Het |
| Ablim3 |
T |
A |
18: 61,982,441 (GRCm39) |
D168V |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,673,896 (GRCm39) |
S352F |
probably damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,204,066 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
A |
G |
3: 121,784,759 (GRCm39) |
K229E |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,831,864 (GRCm39) |
V470D |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,704,724 (GRCm39) |
|
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,006,175 (GRCm39) |
N121S |
possibly damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,789,203 (GRCm39) |
|
probably benign |
Het |
| Bptf |
T |
A |
11: 106,952,518 (GRCm39) |
T2112S |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,285 (GRCm39) |
K498E |
probably benign |
Het |
| Calhm2 |
A |
G |
19: 47,129,469 (GRCm39) |
|
probably null |
Het |
| Capn3 |
A |
T |
2: 120,333,077 (GRCm39) |
|
probably null |
Het |
| Caps2 |
T |
C |
10: 112,031,695 (GRCm39) |
F265L |
possibly damaging |
Het |
| Casp3 |
G |
T |
8: 47,089,262 (GRCm39) |
C170F |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,873,988 (GRCm39) |
R615G |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,451,738 (GRCm39) |
I426T |
probably benign |
Het |
| Cfap53 |
G |
A |
18: 74,433,221 (GRCm39) |
R102H |
possibly damaging |
Het |
| Cfhr3 |
G |
A |
1: 139,521,623 (GRCm39) |
|
noncoding transcript |
Het |
| Col7a1 |
T |
C |
9: 108,809,652 (GRCm39) |
|
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,513,357 (GRCm39) |
E24G |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,915,782 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,927,332 (GRCm39) |
N1329K |
probably benign |
Het |
| Dnajc11 |
C |
G |
4: 152,054,393 (GRCm39) |
R200G |
probably damaging |
Het |
| Dok3 |
A |
T |
13: 55,672,076 (GRCm39) |
F201I |
probably benign |
Het |
| Dpf2 |
A |
T |
19: 5,952,240 (GRCm39) |
H303Q |
probably damaging |
Het |
| Dtnb |
A |
G |
12: 3,785,039 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,219,555 (GRCm39) |
D129G |
possibly damaging |
Het |
| Elk3 |
T |
C |
10: 93,101,343 (GRCm39) |
E136G |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,072,329 (GRCm39) |
D150G |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,412,881 (GRCm39) |
S570P |
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,656 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
T |
8: 124,035,252 (GRCm39) |
M231K |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,767,714 (GRCm39) |
V358A |
probably benign |
Het |
| Foxp1 |
C |
T |
6: 98,907,083 (GRCm39) |
E666K |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,128,430 (GRCm39) |
|
probably null |
Het |
| Gbp2 |
C |
T |
3: 142,336,519 (GRCm39) |
R290C |
possibly damaging |
Het |
| Gm57859 |
T |
A |
11: 113,578,712 (GRCm39) |
S36T |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,298,693 (GRCm39) |
S343R |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,075,974 (GRCm39) |
M1448K |
probably benign |
Het |
| Hmgn3 |
A |
T |
9: 83,028,482 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
C |
5: 35,003,347 (GRCm39) |
V1274A |
probably benign |
Het |
| Kcnip3 |
A |
T |
2: 127,300,317 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
A |
G |
6: 120,379,632 (GRCm39) |
T647A |
possibly damaging |
Het |
| Krt72 |
T |
C |
15: 101,694,491 (GRCm39) |
R135G |
probably damaging |
Het |
| Larp7 |
T |
A |
3: 127,337,858 (GRCm39) |
K400N |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,198,753 (GRCm39) |
|
probably null |
Het |
| Lima1 |
G |
A |
15: 99,678,353 (GRCm39) |
P696L |
probably damaging |
Het |
| Lrrc8e |
T |
G |
8: 4,285,239 (GRCm39) |
|
probably null |
Het |
| Map1a |
A |
G |
2: 121,129,083 (GRCm39) |
R116G |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,723,999 (GRCm39) |
E327G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,236,788 (GRCm39) |
V123A |
possibly damaging |
Het |
| Megf8 |
A |
C |
7: 25,027,965 (GRCm39) |
H205P |
probably benign |
Het |
| Met |
G |
A |
6: 17,555,631 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
A |
C |
13: 65,234,964 (GRCm39) |
V71G |
possibly damaging |
Het |
| Mpl |
T |
A |
4: 118,300,733 (GRCm39) |
T599S |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,881,944 (GRCm39) |
D62V |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
| Myrfl |
A |
G |
10: 116,612,665 (GRCm39) |
Y895H |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,326,224 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,952,803 (GRCm39) |
Y111N |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,766,113 (GRCm39) |
|
probably benign |
Het |
| Nsun2 |
G |
T |
13: 69,781,361 (GRCm39) |
V657L |
probably benign |
Het |
| Or10g1b |
C |
A |
14: 52,627,283 (GRCm39) |
G316* |
probably null |
Het |
| Or4a74 |
T |
A |
2: 89,439,564 (GRCm39) |
N294I |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,083,278 (GRCm39) |
D18G |
probably benign |
Het |
| Or52d1 |
A |
T |
7: 103,756,349 (GRCm39) |
I288F |
possibly damaging |
Het |
| Or52e19 |
T |
C |
7: 102,959,371 (GRCm39) |
S148P |
probably damaging |
Het |
| Or5k3 |
G |
A |
16: 58,970,117 (GRCm39) |
M301I |
probably benign |
Het |
| Or5m13b |
A |
T |
2: 85,753,722 (GRCm39) |
I37F |
probably benign |
Het |
| Or6c68 |
T |
A |
10: 129,157,885 (GRCm39) |
M131K |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,276,383 (GRCm39) |
V795D |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,263,286 (GRCm39) |
D155G |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,742,123 (GRCm39) |
V164I |
probably benign |
Het |
| Pgd |
A |
T |
4: 149,241,267 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
G |
A |
1: 135,805,920 (GRCm39) |
R593W |
probably damaging |
Het |
| Polr2l |
A |
T |
7: 141,053,255 (GRCm39) |
V53E |
probably damaging |
Het |
| Ppp4c |
G |
T |
7: 126,386,460 (GRCm39) |
T29K |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,779 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,018,711 (GRCm39) |
S688P |
probably benign |
Het |
| Rab3b |
A |
T |
4: 108,747,586 (GRCm39) |
I28F |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,552 (GRCm39) |
L92P |
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,413,755 (GRCm39) |
E229G |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,274 (GRCm39) |
D147E |
possibly damaging |
Het |
| Rttn |
G |
A |
18: 89,061,090 (GRCm39) |
G1086D |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,720,519 (GRCm39) |
|
probably null |
Het |
| Sft2d2 |
T |
C |
1: 165,011,430 (GRCm39) |
I126V |
probably benign |
Het |
| Skap1 |
G |
T |
11: 96,614,236 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
A |
T |
18: 78,200,394 (GRCm39) |
L753* |
probably null |
Het |
| Slc25a5 |
G |
A |
X: 36,059,408 (GRCm39) |
A9T |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,951,278 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
C |
10: 75,899,870 (GRCm39) |
I456S |
possibly damaging |
Het |
| Slc9a4 |
A |
T |
1: 40,642,230 (GRCm39) |
S400C |
probably damaging |
Het |
| Slx1b |
T |
A |
7: 126,291,812 (GRCm39) |
H84L |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,100,008 (GRCm39) |
Y190C |
probably damaging |
Het |
| Stk32b |
T |
C |
5: 37,688,910 (GRCm39) |
Q138R |
probably damaging |
Het |
| Syt6 |
C |
A |
3: 103,528,206 (GRCm39) |
D308E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,044,374 (GRCm39) |
D572N |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,478,605 (GRCm39) |
L109Q |
probably damaging |
Het |
| Tbl1xr1 |
T |
C |
3: 22,233,483 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
A |
G |
2: 70,544,502 (GRCm39) |
I711T |
probably benign |
Het |
| Trf |
A |
G |
9: 103,100,132 (GRCm39) |
|
probably null |
Het |
| Trpc2 |
A |
G |
7: 101,733,572 (GRCm39) |
T548A |
possibly damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,655,777 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tti1 |
A |
T |
2: 157,835,292 (GRCm39) |
C989S |
probably damaging |
Het |
| Txndc8 |
A |
G |
4: 58,000,256 (GRCm39) |
Y108H |
probably benign |
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vmn1r34 |
A |
G |
6: 66,614,648 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vmn2r115 |
A |
G |
17: 23,579,074 (GRCm39) |
K849R |
probably null |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,323 (GRCm39) |
|
probably null |
Het |
| Vps13c |
T |
A |
9: 67,834,754 (GRCm39) |
S1694R |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 101,984,038 (GRCm39) |
P3509T |
probably benign |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnt8b |
T |
A |
19: 44,482,106 (GRCm39) |
W40R |
probably benign |
Het |
| Xrra1 |
A |
G |
7: 99,560,175 (GRCm39) |
I384V |
possibly damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,971 (GRCm39) |
H163Q |
probably damaging |
Het |
|
| Other mutations in Kcnh8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01313:Kcnh8
|
APN |
17 |
53,141,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Kcnh8
|
APN |
17 |
53,201,148 (GRCm39) |
splice site |
probably benign |
|
|
IGL01959:Kcnh8
|
APN |
17 |
53,141,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Kcnh8
|
APN |
17 |
53,184,939 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02528:Kcnh8
|
APN |
17 |
53,110,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02620:Kcnh8
|
APN |
17 |
53,205,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02688:Kcnh8
|
APN |
17 |
53,266,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02931:Kcnh8
|
APN |
17 |
53,263,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02950:Kcnh8
|
APN |
17 |
53,263,795 (GRCm39) |
missense |
probably benign |
0.22 |
|
Incompetent
|
UTSW |
17 |
53,201,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
leak
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R0282:Kcnh8
|
UTSW |
17 |
53,032,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Kcnh8
|
UTSW |
17 |
53,284,648 (GRCm39) |
splice site |
probably null |
|
|
R0496:Kcnh8
|
UTSW |
17 |
53,032,886 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0671:Kcnh8
|
UTSW |
17 |
53,285,141 (GRCm39) |
nonsense |
probably null |
|
|
R0891:Kcnh8
|
UTSW |
17 |
53,212,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0971:Kcnh8
|
UTSW |
17 |
53,032,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1054:Kcnh8
|
UTSW |
17 |
53,110,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Kcnh8
|
UTSW |
17 |
53,200,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Kcnh8
|
UTSW |
17 |
53,200,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1565:Kcnh8
|
UTSW |
17 |
53,263,909 (GRCm39) |
missense |
probably benign |
|
|
R1657:Kcnh8
|
UTSW |
17 |
53,146,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Kcnh8
|
UTSW |
17 |
53,200,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Kcnh8
|
UTSW |
17 |
53,200,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R1804:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R1929:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R1980:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R1981:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R1982:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2016:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2017:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2132:Kcnh8
|
UTSW |
17 |
53,200,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Kcnh8
|
UTSW |
17 |
53,200,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2265:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2266:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2267:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2303:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2309:Kcnh8
|
UTSW |
17 |
53,285,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2764:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2857:Kcnh8
|
UTSW |
17 |
53,284,961 (GRCm39) |
missense |
probably benign |
|
|
R2898:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R2987:Kcnh8
|
UTSW |
17 |
53,263,763 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3031:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R3157:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R3158:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4080:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4081:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4082:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4087:Kcnh8
|
UTSW |
17 |
53,110,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4132:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4158:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4213:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4301:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4302:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4383:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4385:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4400:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4490:Kcnh8
|
UTSW |
17 |
53,268,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4493:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4494:Kcnh8
|
UTSW |
17 |
53,032,934 (GRCm39) |
small deletion |
probably benign |
|
|
R4611:Kcnh8
|
UTSW |
17 |
52,909,864 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4728:Kcnh8
|
UTSW |
17 |
53,032,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Kcnh8
|
UTSW |
17 |
53,212,248 (GRCm39) |
splice site |
probably null |
|
|
R4927:Kcnh8
|
UTSW |
17 |
53,185,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4984:Kcnh8
|
UTSW |
17 |
53,184,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5017:Kcnh8
|
UTSW |
17 |
53,200,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Kcnh8
|
UTSW |
17 |
53,205,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Kcnh8
|
UTSW |
17 |
53,212,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5386:Kcnh8
|
UTSW |
17 |
53,033,023 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5472:Kcnh8
|
UTSW |
17 |
53,284,844 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5500:Kcnh8
|
UTSW |
17 |
53,033,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5714:Kcnh8
|
UTSW |
17 |
53,285,150 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5866:Kcnh8
|
UTSW |
17 |
53,263,804 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5903:Kcnh8
|
UTSW |
17 |
53,110,364 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6969:Kcnh8
|
UTSW |
17 |
53,184,971 (GRCm39) |
nonsense |
probably null |
|
|
R6994:Kcnh8
|
UTSW |
17 |
53,284,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7101:Kcnh8
|
UTSW |
17 |
53,212,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Kcnh8
|
UTSW |
17 |
53,201,145 (GRCm39) |
splice site |
probably null |
|
|
R7228:Kcnh8
|
UTSW |
17 |
53,263,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7372:Kcnh8
|
UTSW |
17 |
53,201,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Kcnh8
|
UTSW |
17 |
53,268,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Kcnh8
|
UTSW |
17 |
53,263,743 (GRCm39) |
missense |
probably benign |
|
|
R7952:Kcnh8
|
UTSW |
17 |
53,266,493 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8176:Kcnh8
|
UTSW |
17 |
53,285,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Kcnh8
|
UTSW |
17 |
53,263,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8407:Kcnh8
|
UTSW |
17 |
53,212,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8473:Kcnh8
|
UTSW |
17 |
53,285,320 (GRCm39) |
missense |
probably benign |
|
|
R8716:Kcnh8
|
UTSW |
17 |
53,284,780 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8943:Kcnh8
|
UTSW |
17 |
53,104,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9051:Kcnh8
|
UTSW |
17 |
53,141,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Kcnh8
|
UTSW |
17 |
53,146,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Kcnh8
|
UTSW |
17 |
53,285,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Kcnh8
|
UTSW |
17 |
53,205,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9327:Kcnh8
|
UTSW |
17 |
53,146,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9640:Kcnh8
|
UTSW |
17 |
53,185,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9646:Kcnh8
|
UTSW |
17 |
53,104,573 (GRCm39) |
missense |
probably benign |
0.25 |
|
RF009:Kcnh8
|
UTSW |
17 |
53,285,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF010:Kcnh8
|
UTSW |
17 |
53,285,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF011:Kcnh8
|
UTSW |
17 |
53,285,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF021:Kcnh8
|
UTSW |
17 |
53,285,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF022:Kcnh8
|
UTSW |
17 |
53,285,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Kcnh8
|
UTSW |
17 |
53,285,320 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Kcnh8
|
UTSW |
17 |
53,032,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Kcnh8
|
UTSW |
17 |
53,201,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Kcnh8
|
UTSW |
17 |
53,285,121 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Kcnh8
|
UTSW |
17 |
53,110,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGTTGTATCCATATGCTCCTAGC -3'
(R):5'- GGTAACACTGTACCTGTCTTATGCCTG -3'
Sequencing Primer
(F):5'- TCCATATGCTCCTAGCAATGGAATC -3'
(R):5'- ACCTGTCTTATGCCTGTATTAGAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation