Incidental Mutation 'R8351:Kcnh6'
| ID |
660498 |
| 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 |
067804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
105898950-105925375 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105911062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 486
(H486R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001965]
[ENSMUST00000106903]
[ENSMUST00000145539]
|
| AlphaFold |
Q32ME0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001965
AA Change: H539R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: H539R
| 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 damaging
Transcript: ENSMUST00000106903
AA Change: H486R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: H486R
| 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 damaging
Transcript: ENSMUST00000145539
AA Change: H539R
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: H539R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat3 |
A |
T |
10: 78,110,086 (GRCm39) |
Y288N |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,203,626 (GRCm39) |
K225E |
probably benign |
Het |
| Apob |
A |
G |
12: 8,056,356 (GRCm39) |
T1613A |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,725,693 (GRCm39) |
T2139A |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,386,172 (GRCm39) |
|
probably null |
Het |
| Atp23 |
C |
T |
10: 126,723,407 (GRCm39) |
A232T |
probably damaging |
Het |
| Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
| Cep295 |
G |
A |
9: 15,234,202 (GRCm39) |
T2198I |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,588,694 (GRCm39) |
N1140K |
probably damaging |
Het |
| Cyp2f2 |
A |
G |
7: 26,821,294 (GRCm39) |
Y69C |
probably damaging |
Het |
| Ep400 |
C |
T |
5: 110,887,200 (GRCm39) |
A628T |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,932,046 (GRCm39) |
|
probably null |
Het |
| Fpr3 |
T |
C |
17: 18,191,436 (GRCm39) |
S236P |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,822,239 (GRCm39) |
S5991P |
possibly damaging |
Het |
| Gm3099 |
A |
T |
14: 15,345,347 (GRCm39) |
N58Y |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,673,670 (GRCm39) |
Y2571H |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,837,401 (GRCm39) |
V995M |
probably damaging |
Het |
| Lrrc43 |
A |
G |
5: 123,632,328 (GRCm39) |
N157S |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,272,923 (GRCm39) |
S74L |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,571,181 (GRCm39) |
V446D |
unknown |
Het |
| Ncapg2 |
T |
C |
12: 116,403,647 (GRCm39) |
V853A |
possibly damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
| Nuak1 |
T |
C |
10: 84,229,981 (GRCm39) |
I131V |
probably damaging |
Het |
| Nup50l |
A |
C |
6: 96,142,655 (GRCm39) |
S130A |
probably benign |
Het |
| Oas1e |
A |
T |
5: 120,925,008 (GRCm39) |
|
probably null |
Het |
| Or1n2 |
T |
C |
2: 36,797,149 (GRCm39) |
F64L |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,542,128 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
C |
17: 56,413,861 (GRCm39) |
T255A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,117 (GRCm39) |
T141A |
possibly damaging |
Het |
| Rps2 |
T |
A |
17: 24,939,334 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
G |
11: 119,783,465 (GRCm39) |
D1153G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,814,718 (GRCm39) |
F685L |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,146,051 (GRCm39) |
I356T |
probably benign |
Het |
| Slc29a4 |
T |
G |
5: 142,703,584 (GRCm39) |
I286S |
probably benign |
Het |
| Swap70 |
T |
C |
7: 109,821,105 (GRCm39) |
S30P |
possibly damaging |
Het |
| Tbc1d10c |
A |
G |
19: 4,234,744 (GRCm39) |
F439S |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,841 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,004,850 (GRCm39) |
R366G |
possibly damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,638 (GRCm39) |
D699G |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,597 (GRCm39) |
R100S |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
probably damaging |
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 |
|
|
R2325:Kcnh6
|
UTSW |
11 |
105,924,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ATTAGGAGGTCAGGAGTCACC -3'
(R):5'- TCAGGGAAGCCTTTCAGCAC -3'
Sequencing Primer
(F):5'- AGTCACCCGGGAACTCCTC -3'
(R):5'- TATGGCGAGTCTCTCCGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation