Incidental Mutation 'R2325:Kcnh6'
| ID |
244892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnh6
|
| Ensembl Gene |
ENSMUSG00000001901 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 6 |
| Synonyms |
m-erg2 |
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
105898950-105925375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105924661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 822
(S822F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001965]
[ENSMUST00000058438]
[ENSMUST00000106903]
[ENSMUST00000145539]
|
| AlphaFold |
Q32ME0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001965
AA Change: S875F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: S875F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
2e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
256 |
523 |
6.8e-40 |
PFAM |
|
Pfam:Ion_trans_2
|
445 |
517 |
2.6e-13 |
PFAM |
|
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
|
coiled coil region
|
782 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058438
|
| SMART Domains |
Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
58 |
99 |
3.42e1 |
SMART |
|
WD40
|
104 |
149 |
1.43e1 |
SMART |
|
WD40
|
163 |
205 |
3.81e-5 |
SMART |
|
WD40
|
211 |
251 |
1.1e2 |
SMART |
|
WD40
|
255 |
295 |
8.88e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106891
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106903
AA Change: S822F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: S822F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
258 |
280 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
302 |
420 |
6.2e-10 |
PFAM |
|
Pfam:Ion_trans_2
|
395 |
464 |
2.6e-9 |
PFAM |
|
cNMP
|
541 |
659 |
3.21e-23 |
SMART |
|
coiled coil region
|
729 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
859 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145539
|
| SMART Domains |
Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PAS
|
13 |
87 |
3e-43 |
BLAST |
|
PAC
|
93 |
135 |
4.06e-2 |
SMART |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
261 |
283 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
302 |
511 |
1.4e-22 |
PFAM |
|
Pfam:Ion_trans_2
|
442 |
517 |
2e-13 |
PFAM |
|
cNMP
|
594 |
712 |
3.21e-23 |
SMART |
|
low complexity region
|
764 |
775 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
Het |
|
| Other mutations in Kcnh6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Kcnh6
|
APN |
11 |
105,909,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Kcnh6
|
APN |
11 |
105,914,743 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01529:Kcnh6
|
APN |
11 |
105,911,522 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01555:Kcnh6
|
APN |
11 |
105,908,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01596:Kcnh6
|
APN |
11 |
105,917,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01808:Kcnh6
|
APN |
11 |
105,914,753 (GRCm39) |
splice site |
probably benign |
|
|
IGL02001:Kcnh6
|
APN |
11 |
105,918,375 (GRCm39) |
splice site |
probably benign |
|
|
IGL02131:Kcnh6
|
APN |
11 |
105,911,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02254:Kcnh6
|
APN |
11 |
105,911,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02413:Kcnh6
|
APN |
11 |
105,918,460 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0089:Kcnh6
|
UTSW |
11 |
105,899,848 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1914:Kcnh6
|
UTSW |
11 |
105,908,270 (GRCm39) |
nonsense |
probably null |
|
|
R1915:Kcnh6
|
UTSW |
11 |
105,908,270 (GRCm39) |
nonsense |
probably null |
|
|
R2265:Kcnh6
|
UTSW |
11 |
105,924,643 (GRCm39) |
missense |
probably benign |
|
|
R4449:Kcnh6
|
UTSW |
11 |
105,909,762 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4548:Kcnh6
|
UTSW |
11 |
105,899,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Kcnh6
|
UTSW |
11 |
105,908,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5166:Kcnh6
|
UTSW |
11 |
105,911,145 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5358:Kcnh6
|
UTSW |
11 |
105,918,417 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5445:Kcnh6
|
UTSW |
11 |
105,914,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Kcnh6
|
UTSW |
11 |
105,899,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5708:Kcnh6
|
UTSW |
11 |
105,911,082 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5742:Kcnh6
|
UTSW |
11 |
105,899,968 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6035:Kcnh6
|
UTSW |
11 |
105,909,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6035:Kcnh6
|
UTSW |
11 |
105,909,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6150:Kcnh6
|
UTSW |
11 |
105,911,557 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6827:Kcnh6
|
UTSW |
11 |
105,899,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7172:Kcnh6
|
UTSW |
11 |
105,911,100 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7329:Kcnh6
|
UTSW |
11 |
105,908,203 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7359:Kcnh6
|
UTSW |
11 |
105,909,789 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7542:Kcnh6
|
UTSW |
11 |
105,905,387 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7571:Kcnh6
|
UTSW |
11 |
105,908,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7580:Kcnh6
|
UTSW |
11 |
105,908,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7703:Kcnh6
|
UTSW |
11 |
105,914,703 (GRCm39) |
missense |
probably benign |
|
|
R7726:Kcnh6
|
UTSW |
11 |
105,908,401 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7837:Kcnh6
|
UTSW |
11 |
105,924,636 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7854:Kcnh6
|
UTSW |
11 |
105,908,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7971:Kcnh6
|
UTSW |
11 |
105,908,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Kcnh6
|
UTSW |
11 |
105,908,200 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8274:Kcnh6
|
UTSW |
11 |
105,910,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Kcnh6
|
UTSW |
11 |
105,911,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8991:Kcnh6
|
UTSW |
11 |
105,909,971 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9042:Kcnh6
|
UTSW |
11 |
105,908,464 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9272:Kcnh6
|
UTSW |
11 |
105,924,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9273:Kcnh6
|
UTSW |
11 |
105,924,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9274:Kcnh6
|
UTSW |
11 |
105,924,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9428:Kcnh6
|
UTSW |
11 |
105,899,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Kcnh6
|
UTSW |
11 |
105,916,621 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Kcnh6
|
UTSW |
11 |
105,899,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCTTCCACATGTACTTGAC -3'
(R):5'- ATTCCAGCTGCTTGGGAACG -3'
Sequencing Primer
(F):5'- CACATGTACTTGACTTATGCATGC -3'
(R):5'- CTGCTTGGGAACGGAGCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation