Incidental Mutation 'R2571:Kcnq1'
ID 252539
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 040429-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.330) question?
Stock # R2571 (G1)
Quality Score 183
Status Not validated
Chromosome 7
Chromosomal Location 142660614-142980787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 142661433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 113 (L113R)
Ref Sequence ENSEMBL: ENSMUSP00000009689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009689] [ENSMUST00000185383] [ENSMUST00000186284] [ENSMUST00000186288] [ENSMUST00000186488] [ENSMUST00000186798] [ENSMUST00000187213]
AlphaFold P97414
Predicted Effect probably benign
Transcript: ENSMUST00000009689
AA Change: L113R

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000009689
Gene: ENSMUSG00000009545
AA Change: L113R

DomainStartEndE-ValueType
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: L49R

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139548
Gene: ENSMUSG00000009545
AA Change: L49R

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000186284
Predicted Effect probably benign
Transcript: ENSMUST00000186288
Predicted Effect probably benign
Transcript: ENSMUST00000186488
SMART Domains Protein: ENSMUSP00000140673
Gene: ENSMUSG00000009545

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186798
Predicted Effect probably benign
Transcript: ENSMUST00000187213
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,289,044 (GRCm39) N2438S probably benign Het
Ago3 G A 4: 126,257,604 (GRCm39) R476W probably damaging Het
Akap8 T C 17: 32,534,429 (GRCm39) E339G probably damaging Het
Apba2 T C 7: 64,395,498 (GRCm39) V658A probably damaging Het
Bcl3 T C 7: 19,543,452 (GRCm39) D338G probably damaging Het
Bpnt2 C T 4: 4,778,192 (GRCm39) probably null Het
Ccdc138 T C 10: 58,349,044 (GRCm39) Y197H probably benign Het
Ccdc162 T A 10: 41,428,393 (GRCm39) Q499L probably damaging Het
Ccser1 G A 6: 61,399,944 (GRCm39) C21Y probably damaging Het
Chil6 A T 3: 106,297,709 (GRCm39) Y229* probably null Het
Cntnap5a C T 1: 116,112,092 (GRCm39) R461C probably damaging Het
Col19a1 T A 1: 24,413,712 (GRCm39) R407S unknown Het
Crlf3 A T 11: 79,938,339 (GRCm39) F433I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah10 A T 5: 124,852,542 (GRCm39) R1867W probably damaging Het
Dsg3 T C 18: 20,673,062 (GRCm39) V911A probably benign Het
Dzip3 T C 16: 48,792,581 (GRCm39) probably null Het
Evpl T C 11: 116,128,795 (GRCm39) Q10R unknown Het
Glra3 C T 8: 56,563,516 (GRCm39) A337V probably benign Het
H2-T5 C T 17: 36,478,553 (GRCm39) G132R possibly damaging Het
Hcfc2 T C 10: 82,544,857 (GRCm39) F163S probably damaging Het
Hells T C 19: 38,948,177 (GRCm39) V701A possibly damaging Het
Helz A G 11: 107,504,778 (GRCm39) T422A probably benign Het
Hhat G A 1: 192,235,330 (GRCm39) T442I probably damaging Het
Hmces A T 6: 87,913,202 (GRCm39) Q319L possibly damaging Het
Ighv1-62-1 T A 12: 115,350,377 (GRCm39) T97S probably damaging Het
Kcne2 C T 16: 92,093,800 (GRCm39) T109I probably damaging Het
Kdm5d T C Y: 940,932 (GRCm39) S1106P probably benign Het
Kel C A 6: 41,665,001 (GRCm39) A588S possibly damaging Het
Kmt2e T A 5: 23,706,885 (GRCm39) F1483I probably benign Het
Krt4 T A 15: 101,829,692 (GRCm39) N279Y probably damaging Het
Lama4 T A 10: 38,918,671 (GRCm39) M384K possibly damaging Het
Lepr C T 4: 101,625,369 (GRCm39) T508I possibly damaging Het
Lypd10 A G 7: 24,412,819 (GRCm39) I76V probably benign Het
Map1lc3b T A 8: 122,320,213 (GRCm39) probably null Het
Me1 T C 9: 86,536,751 (GRCm39) H108R probably damaging Het
Mindy4 T C 6: 55,261,770 (GRCm39) S560P probably damaging Het
Mmp3 T A 9: 7,451,844 (GRCm39) I394N possibly damaging Het
Mmrn2 T C 14: 34,124,896 (GRCm39) S826P probably damaging Het
Or13n4 T A 7: 106,422,933 (GRCm39) M267L probably benign Het
Osbpl7 T C 11: 96,945,667 (GRCm39) L138P probably damaging Het
Pcdhga11 G A 18: 37,889,921 (GRCm39) E310K probably damaging Het
Pcif1 A G 2: 164,726,131 (GRCm39) D39G probably damaging Het
Ppp1r21 C T 17: 88,852,810 (GRCm39) T63I probably benign Het
Prickle2 T C 6: 92,682,381 (GRCm39) Q25R probably benign Het
Ptk2 A G 15: 73,103,768 (GRCm39) L94P probably damaging Het
Ptprg T C 14: 12,122,135 (GRCm38) F333S probably benign Het
Rag2 T A 2: 101,460,312 (GRCm39) H207Q probably damaging Het
Rps6ka1 G T 4: 133,587,923 (GRCm39) probably null Het
Rps6ka4 G T 19: 6,815,471 (GRCm39) H174Q probably damaging Het
Rreb1 C A 13: 38,083,613 (GRCm39) T92K probably damaging Het
Ryr1 A T 7: 28,708,987 (GRCm39) M4793K unknown Het
Ryr1 T A 7: 28,735,551 (GRCm39) M4076L possibly damaging Het
Sec16a A C 2: 26,329,343 (GRCm39) S891A probably benign Het
Sgsh A G 11: 119,241,340 (GRCm39) Y132H probably damaging Het
Sos2 T A 12: 69,682,492 (GRCm39) E242V possibly damaging Het
Spata31d1c G T 13: 65,184,198 (GRCm39) R580L probably damaging Het
Spata9 C A 13: 76,115,880 (GRCm39) probably benign Het
Tead2 T A 7: 44,875,194 (GRCm39) V202E probably damaging Het
Thada T C 17: 84,762,068 (GRCm39) K168E probably damaging Het
Tmem64 T C 4: 15,266,718 (GRCm39) I256T probably damaging Het
Tra2a G T 6: 49,229,421 (GRCm39) probably benign Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Ttc13 A C 8: 125,410,538 (GRCm39) Y372D probably damaging Het
Vit T C 17: 78,894,174 (GRCm39) V192A probably benign Het
Vmn2r69 T C 7: 85,064,764 (GRCm39) T41A probably benign Het
Vps13d C A 4: 144,875,706 (GRCm39) K1600N probably benign Het
Xpnpep3 A T 15: 81,335,127 (GRCm39) H420L probably damaging Het
Zfp322a A G 13: 23,540,614 (GRCm39) L376P probably damaging Het
Zfp619 T C 7: 39,186,595 (GRCm39) L875P probably damaging Het
Zic5 T A 14: 122,696,890 (GRCm39) Q575L unknown Het
Other mutations in Kcnq1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6534:Kcnq1 UTSW 7 142,748,064 (GRCm39) missense probably benign 0.16
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'- AAGTGTCCCTTCTCACTGGAGC -3'
(R):5'- CAGCAGAGTCCCTGAGTTTAAGG -3'

Sequencing Primer
(F):5'- TGAGGGCAGCACGGTCTATG -3'
(R):5'- AGTTTAAGGGACCGACTCTCAGTC -3'
Posted On 2014-12-04