Incidental Mutation 'R6534:Kcnq1'
| ID |
520281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnq1
|
| Ensembl Gene |
ENSMUSG00000009545 |
| Gene Name |
potassium voltage-gated channel, subfamily Q, member 1 |
| Synonyms |
KVLQT1, Kcna9 |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.330)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142660614-142980787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142748064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 411
(P411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009689]
[ENSMUST00000185383]
|
| AlphaFold |
P97414 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009689
AA Change: P411S
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545
AA Change: P411S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
121 |
358 |
7.5e-28 |
PFAM |
|
Pfam:Ion_trans_2
|
261 |
351 |
5.9e-13 |
PFAM |
|
low complexity region
|
404 |
427 |
N/A |
INTRINSIC |
|
Pfam:KCNQ_channel
|
480 |
624 |
1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185383
AA Change: P347S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545
AA Change: P347S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
93 |
282 |
1.4e-23 |
PFAM |
|
Pfam:Ion_trans_2
|
198 |
287 |
1.2e-11 |
PFAM |
|
low complexity region
|
340 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
433 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous targeted null or spontaneous mutants show circling and head-tossing behavior and are deaf with inner ear dysmorphology. Paternal inheritance of a deletion of an imprinted control region within an intron of this gene results in small body size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
| Other mutations in Kcnq1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Kcnq1
|
APN |
7 |
142,748,015 (GRCm39) |
nonsense |
probably null |
|
|
IGL01936:Kcnq1
|
APN |
7 |
142,738,241 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02134:Kcnq1
|
APN |
7 |
142,737,453 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02613:Kcnq1
|
APN |
7 |
142,979,863 (GRCm39) |
unclassified |
probably benign |
|
|
R0841:Kcnq1
|
UTSW |
7 |
142,661,189 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1843:Kcnq1
|
UTSW |
7 |
142,736,857 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2571:Kcnq1
|
UTSW |
7 |
142,661,433 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2910:Kcnq1
|
UTSW |
7 |
142,979,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3943:Kcnq1
|
UTSW |
7 |
142,979,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Kcnq1
|
UTSW |
7 |
142,738,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Kcnq1
|
UTSW |
7 |
142,661,466 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4795:Kcnq1
|
UTSW |
7 |
142,736,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5133:Kcnq1
|
UTSW |
7 |
142,748,083 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5151:Kcnq1
|
UTSW |
7 |
142,979,749 (GRCm39) |
missense |
probably benign |
|
|
R5658:Kcnq1
|
UTSW |
7 |
142,917,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5732:Kcnq1
|
UTSW |
7 |
142,702,493 (GRCm39) |
intron |
probably benign |
|
|
R5990:Kcnq1
|
UTSW |
7 |
142,815,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Kcnq1
|
UTSW |
7 |
142,660,170 (GRCm39) |
unclassified |
probably benign |
|
|
R6111:Kcnq1
|
UTSW |
7 |
142,661,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7196:Kcnq1
|
UTSW |
7 |
142,912,478 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7409:Kcnq1
|
UTSW |
7 |
142,663,152 (GRCm39) |
missense |
unknown |
|
|
R7790:Kcnq1
|
UTSW |
7 |
142,660,342 (GRCm39) |
splice site |
probably null |
|
|
R8093:Kcnq1
|
UTSW |
7 |
142,916,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Kcnq1
|
UTSW |
7 |
142,917,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Kcnq1
|
UTSW |
7 |
142,979,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9379:Kcnq1
|
UTSW |
7 |
142,745,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Kcnq1
|
UTSW |
7 |
142,737,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Kcnq1
|
UTSW |
7 |
142,662,201 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTGATGTCAGGGAAGG -3'
(R):5'- GGCATGGAGTAGACATCCTC -3'
Sequencing Primer
(F):5'- TCAGGGAAGGGGCCTTG -3'
(R):5'- GGAGTAGACATCCTCTGACTTCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation