Incidental Mutation 'R9733:Kcnt1'
ID 731521
Institutional Source Beutler Lab
Gene Symbol Kcnt1
Ensembl Gene ENSMUSG00000058740
Gene Name potassium channel, subfamily T, member 1
Synonyms C030030G16Rik, Slack, slo2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R9733 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25753807-25808285 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 25797351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 844 (V844L)
Ref Sequence ENSEMBL: ENSMUSP00000039058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037580] [ENSMUST00000114172] [ENSMUST00000114176] [ENSMUST00000128502] [ENSMUST00000153001] [ENSMUST00000171268] [ENSMUST00000197917] [ENSMUST00000198204] [ENSMUST00000200434]
AlphaFold Q6ZPR4
Predicted Effect probably benign
Transcript: ENSMUST00000037580
AA Change: V844L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000039058
Gene: ENSMUSG00000058740
AA Change: V844L

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
transmembrane domain 98 117 N/A INTRINSIC
transmembrane domain 157 179 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Pfam:Ion_trans_2 252 335 1.3e-12 PFAM
transmembrane domain 355 377 N/A INTRINSIC
Pfam:BK_channel_a 477 579 5.8e-32 PFAM
PDB:3U6N|H 794 983 6e-6 PDB
low complexity region 1059 1076 N/A INTRINSIC
low complexity region 1212 1229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114172
AA Change: V830L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000109809
Gene: ENSMUSG00000058740
AA Change: V830L

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
transmembrane domain 98 117 N/A INTRINSIC
transmembrane domain 157 179 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Pfam:Ion_trans_2 255 335 5.2e-13 PFAM
transmembrane domain 355 377 N/A INTRINSIC
Pfam:BK_channel_a 475 580 3.3e-38 PFAM
PDB:3U6N|H 792 981 7e-6 PDB
low complexity region 1057 1074 N/A INTRINSIC
low complexity region 1210 1227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114176
AA Change: V844L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109813
Gene: ENSMUSG00000058740
AA Change: V844L

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
transmembrane domain 98 117 N/A INTRINSIC
transmembrane domain 157 179 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Pfam:Ion_trans_2 255 335 5.1e-13 PFAM
transmembrane domain 355 377 N/A INTRINSIC
Pfam:BK_channel_a 475 580 3.2e-38 PFAM
PDB:3U6N|H 794 983 6e-6 PDB
low complexity region 1059 1076 N/A INTRINSIC
low complexity region 1191 1208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128502
Predicted Effect probably benign
Transcript: ENSMUST00000153001
AA Change: V152L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142532
Gene: ENSMUSG00000058740
AA Change: V152L

DomainStartEndE-ValueType
PDB:4HPF|B 79 285 6e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000171268
AA Change: V824L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132212
Gene: ENSMUSG00000058740
AA Change: V824L

DomainStartEndE-ValueType
transmembrane domain 78 97 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:Ion_trans_2 235 315 5.1e-13 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Pfam:BK_channel_a 455 560 3.2e-38 PFAM
PDB:3U6N|H 774 963 7e-6 PDB
low complexity region 1039 1056 N/A INTRINSIC
low complexity region 1192 1209 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197917
AA Change: V842L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143106
Gene: ENSMUSG00000058740
AA Change: V842L

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
transmembrane domain 98 117 N/A INTRINSIC
transmembrane domain 157 179 N/A INTRINSIC
transmembrane domain 188 210 N/A INTRINSIC
Pfam:Ion_trans_2 255 335 5.2e-13 PFAM
transmembrane domain 355 377 N/A INTRINSIC
Pfam:BK_channel_a 475 580 3.3e-38 PFAM
PDB:3U6N|H 792 981 7e-6 PDB
low complexity region 1057 1074 N/A INTRINSIC
low complexity region 1210 1227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198204
AA Change: V810L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142870
Gene: ENSMUSG00000058740
AA Change: V810L

DomainStartEndE-ValueType
transmembrane domain 64 83 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 154 176 N/A INTRINSIC
Pfam:Ion_trans_2 221 301 5e-11 PFAM
transmembrane domain 321 343 N/A INTRINSIC
Pfam:BK_channel_a 441 546 1.2e-35 PFAM
PDB:3U6N|H 760 949 6e-6 PDB
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1157 1174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200434
AA Change: V808L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143482
Gene: ENSMUSG00000058740
AA Change: V808L

DomainStartEndE-ValueType
transmembrane domain 64 83 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 154 176 N/A INTRINSIC
Pfam:Ion_trans_2 221 301 5.1e-11 PFAM
transmembrane domain 321 343 N/A INTRINSIC
Pfam:BK_channel_a 441 546 1.3e-35 PFAM
PDB:3U6N|H 758 947 6e-6 PDB
low complexity region 1023 1040 N/A INTRINSIC
low complexity region 1176 1193 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Slo potassium channel family that has shown to be activated by both sodium and chloride ions. This channel represents the largest potassium channel subunit yet identified. This channel may be important in development and pain signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired action potential firing in sensory neurons and increased mechanical hypersensitivity in neuropathic pain models. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 15,712,825 (GRCm39) probably benign Het
4930595D18Rik T A 12: 111,128,254 (GRCm39) probably benign Het
Adam34l T C 8: 44,079,186 (GRCm39) N346S possibly damaging Het
Alpi C T 1: 87,028,516 (GRCm39) A125T probably benign Het
Alppl2 T A 1: 87,014,957 (GRCm39) H468L probably damaging Het
Arhgef12 A T 9: 42,901,294 (GRCm39) L836* probably null Het
Arv1 T C 8: 125,458,658 (GRCm39) Y261H probably damaging Het
Atf6 C T 1: 170,662,402 (GRCm39) S286N probably benign Het
Atl3 G A 19: 7,509,705 (GRCm39) G478R probably damaging Het
Avil C T 10: 126,843,711 (GRCm39) R184C probably damaging Het
Bcl6b A G 11: 70,119,323 (GRCm39) I131T probably damaging Het
Bltp1 T A 3: 37,102,732 (GRCm39) M1437K Het
Catsper3 T C 13: 55,946,752 (GRCm39) S150P probably damaging Het
Cd7 A G 11: 120,928,637 (GRCm39) S132P probably benign Het
Cfh T C 1: 140,016,533 (GRCm39) D1142G probably damaging Het
Clca4b T G 3: 144,621,272 (GRCm39) K601Q probably benign Het
Cp A G 3: 20,033,126 (GRCm39) H651R probably damaging Het
Cyp2s1 T A 7: 25,507,529 (GRCm39) T307S probably damaging Het
Dcaf11 A G 14: 55,803,170 (GRCm39) D328G probably damaging Het
Eapp A T 12: 54,739,741 (GRCm39) S25R probably damaging Het
Ebag9 T A 15: 44,491,033 (GRCm39) probably null Het
Exog G A 9: 119,291,586 (GRCm39) E288K possibly damaging Het
Fads2 A T 19: 10,047,940 (GRCm39) Y265N probably damaging Het
Fam234b T A 6: 135,194,008 (GRCm39) S220R possibly damaging Het
Fcgbp T A 7: 27,803,012 (GRCm39) C1539S probably damaging Het
Fcsk T C 8: 111,615,563 (GRCm39) T589A probably benign Het
Fv1 C T 4: 147,954,621 (GRCm39) R396W probably damaging Het
Fv1 T C 4: 147,954,654 (GRCm39) F407L probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Hydin T C 8: 111,262,011 (GRCm39) I2704T probably benign Het
Ighm T A 12: 113,386,097 (GRCm39) E84D probably benign Het
Ikzf5 A G 7: 130,994,012 (GRCm39) V205A probably benign Het
Kif2a A C 13: 107,106,304 (GRCm39) S528R probably damaging Het
Klhl29 G A 12: 5,190,641 (GRCm39) T118M probably damaging Het
Krt4 C A 15: 101,827,564 (GRCm39) G492C unknown Het
Lama1 T A 17: 68,116,940 (GRCm39) I2441N Het
Lin7a T C 10: 107,247,905 (GRCm39) V192A possibly damaging Het
Marchf8 T A 6: 116,378,990 (GRCm39) V308D probably damaging Het
Mgat5b T C 11: 116,838,074 (GRCm39) S238P possibly damaging Het
Mrps25 A G 6: 92,155,715 (GRCm39) S73P probably damaging Het
Muc6 G T 7: 141,216,310 (GRCm39) P2788T unknown Het
Ncf1 T C 5: 134,250,899 (GRCm39) T347A probably benign Het
Ndufaf4 T C 4: 24,903,177 (GRCm39) M122T probably benign Het
Nfil3 C T 13: 53,121,591 (GRCm39) A438T probably damaging Het
Noc2l T G 4: 156,328,022 (GRCm39) I504S probably damaging Het
Nphs1 T C 7: 30,166,955 (GRCm39) C735R probably damaging Het
Or10g6 A T 9: 39,934,171 (GRCm39) S161C probably benign Het
Or2y10 T C 11: 49,454,961 (GRCm39) L71P probably damaging Het
Or5d38 C A 2: 87,955,000 (GRCm39) V110L probably damaging Het
Or6b9 A C 7: 106,555,846 (GRCm39) L99R possibly damaging Het
Pcdhac1 A G 18: 37,225,506 (GRCm39) H773R probably benign Het
Pcnt A G 10: 76,237,314 (GRCm39) V1324A probably benign Het
Pcsk4 T C 10: 80,158,034 (GRCm39) Y568C probably damaging Het
Pdlim1 A T 19: 40,219,040 (GRCm39) M197K probably damaging Het
Plekho1 C T 3: 95,903,091 (GRCm39) G7S probably benign Het
Pramel17 A G 4: 101,692,965 (GRCm39) V345A possibly damaging Het
Prl7d1 A C 13: 27,898,339 (GRCm39) S57A probably benign Het
Prpf3 A G 3: 95,741,512 (GRCm39) V548A possibly damaging Het
Prss56 C T 1: 87,111,219 (GRCm39) P2L possibly damaging Het
Ric1 A G 19: 29,580,030 (GRCm39) D1277G possibly damaging Het
Rnf19b T A 4: 128,977,812 (GRCm39) D676E probably damaging Het
Rph3a T A 5: 121,100,521 (GRCm39) T126S probably benign Het
Sh3gl3 T C 7: 81,917,562 (GRCm39) probably null Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc35f2 T C 9: 53,708,385 (GRCm39) V126A probably benign Het
Snrnp200 A T 2: 127,068,240 (GRCm39) Q860L probably damaging Het
Srbd1 T C 17: 86,422,711 (GRCm39) N435S probably damaging Het
Tab2 A G 10: 7,795,214 (GRCm39) S349P possibly damaging Het
Tie1 A T 4: 118,330,183 (GRCm39) W1040R probably null Het
Tnni3k A T 3: 154,562,244 (GRCm39) Y678N probably damaging Het
Trav12-3 T C 14: 53,859,474 (GRCm39) V40A possibly damaging Het
Ttn G A 2: 76,576,379 (GRCm39) S24838L probably damaging Het
Ttn A G 2: 76,725,660 (GRCm39) W6158R unknown Het
Vegfa T C 17: 46,335,401 (GRCm39) S298G probably damaging Het
Zer1 T C 2: 29,997,643 (GRCm39) K421R probably benign Het
Zfp959 C A 17: 56,204,866 (GRCm39) T301N probably benign Het
Other mutations in Kcnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Kcnt1 APN 2 25,782,419 (GRCm39) missense probably damaging 0.98
IGL01358:Kcnt1 APN 2 25,806,017 (GRCm39) missense probably damaging 1.00
IGL01593:Kcnt1 APN 2 25,788,766 (GRCm39) missense probably damaging 1.00
IGL01779:Kcnt1 APN 2 25,790,979 (GRCm39) missense probably damaging 1.00
IGL01800:Kcnt1 APN 2 25,778,137 (GRCm39) missense probably damaging 1.00
IGL01834:Kcnt1 APN 2 25,802,731 (GRCm39) critical splice donor site probably null
IGL02001:Kcnt1 APN 2 25,798,164 (GRCm39) missense probably damaging 1.00
IGL02061:Kcnt1 APN 2 25,790,494 (GRCm39) critical splice donor site probably null
IGL02121:Kcnt1 APN 2 25,791,877 (GRCm39) missense probably damaging 1.00
IGL02646:Kcnt1 APN 2 25,790,892 (GRCm39) splice site probably benign
IGL02683:Kcnt1 APN 2 25,790,937 (GRCm39) missense possibly damaging 0.85
IGL03028:Kcnt1 APN 2 25,799,215 (GRCm39) critical splice acceptor site probably null
IGL03139:Kcnt1 APN 2 25,784,480 (GRCm39) splice site probably benign
R0070:Kcnt1 UTSW 2 25,782,374 (GRCm39) missense probably benign 0.00
R0070:Kcnt1 UTSW 2 25,782,374 (GRCm39) missense probably benign 0.00
R0149:Kcnt1 UTSW 2 25,788,276 (GRCm39) splice site probably benign
R0294:Kcnt1 UTSW 2 25,778,122 (GRCm39) missense probably damaging 0.99
R0367:Kcnt1 UTSW 2 25,797,640 (GRCm39) missense probably damaging 1.00
R0481:Kcnt1 UTSW 2 25,782,508 (GRCm39) missense probably damaging 0.98
R0666:Kcnt1 UTSW 2 25,781,255 (GRCm39) splice site probably benign
R1364:Kcnt1 UTSW 2 25,798,106 (GRCm39) missense probably damaging 0.99
R1553:Kcnt1 UTSW 2 25,790,397 (GRCm39) missense probably damaging 1.00
R1916:Kcnt1 UTSW 2 25,790,481 (GRCm39) missense probably damaging 1.00
R1999:Kcnt1 UTSW 2 25,782,372 (GRCm39) missense probably benign
R2079:Kcnt1 UTSW 2 25,790,260 (GRCm39) missense possibly damaging 0.48
R2166:Kcnt1 UTSW 2 25,781,195 (GRCm39) splice site probably benign
R2295:Kcnt1 UTSW 2 25,790,933 (GRCm39) missense probably damaging 1.00
R3688:Kcnt1 UTSW 2 25,784,371 (GRCm39) missense probably damaging 1.00
R3820:Kcnt1 UTSW 2 25,790,904 (GRCm39) missense probably damaging 1.00
R3826:Kcnt1 UTSW 2 25,805,880 (GRCm39) critical splice donor site probably null
R3980:Kcnt1 UTSW 2 25,783,226 (GRCm39) missense possibly damaging 0.91
R4031:Kcnt1 UTSW 2 25,806,060 (GRCm39) missense possibly damaging 0.77
R4093:Kcnt1 UTSW 2 25,767,927 (GRCm39) missense probably damaging 0.99
R4361:Kcnt1 UTSW 2 25,768,044 (GRCm39) missense probably benign 0.03
R4367:Kcnt1 UTSW 2 25,797,638 (GRCm39) missense probably damaging 1.00
R4850:Kcnt1 UTSW 2 25,798,112 (GRCm39) missense probably damaging 1.00
R5005:Kcnt1 UTSW 2 25,791,358 (GRCm39) missense probably damaging 1.00
R5119:Kcnt1 UTSW 2 25,799,334 (GRCm39) intron probably benign
R5223:Kcnt1 UTSW 2 25,793,434 (GRCm39) missense probably benign
R5243:Kcnt1 UTSW 2 25,798,086 (GRCm39) missense probably damaging 1.00
R5323:Kcnt1 UTSW 2 25,799,289 (GRCm39) missense possibly damaging 0.59
R5665:Kcnt1 UTSW 2 25,791,921 (GRCm39) nonsense probably null
R5888:Kcnt1 UTSW 2 25,798,122 (GRCm39) missense probably damaging 1.00
R5906:Kcnt1 UTSW 2 25,788,413 (GRCm39) missense probably damaging 1.00
R5906:Kcnt1 UTSW 2 25,784,536 (GRCm39) intron probably benign
R5927:Kcnt1 UTSW 2 25,799,388 (GRCm39) intron probably benign
R6160:Kcnt1 UTSW 2 25,782,395 (GRCm39) missense probably damaging 0.96
R6161:Kcnt1 UTSW 2 25,793,397 (GRCm39) missense probably benign 0.00
R6179:Kcnt1 UTSW 2 25,783,192 (GRCm39) missense probably damaging 1.00
R6222:Kcnt1 UTSW 2 25,782,522 (GRCm39) missense probably damaging 1.00
R6268:Kcnt1 UTSW 2 25,793,609 (GRCm39) splice site probably null
R6336:Kcnt1 UTSW 2 25,778,767 (GRCm39) splice site probably null
R6395:Kcnt1 UTSW 2 25,799,251 (GRCm39) missense possibly damaging 0.81
R6564:Kcnt1 UTSW 2 25,801,063 (GRCm39) missense probably benign 0.09
R6944:Kcnt1 UTSW 2 25,767,840 (GRCm39) intron probably benign
R7236:Kcnt1 UTSW 2 25,799,951 (GRCm39) splice site probably null
R7308:Kcnt1 UTSW 2 25,790,475 (GRCm39) missense possibly damaging 0.74
R7346:Kcnt1 UTSW 2 25,753,855 (GRCm39) unclassified probably benign
R7419:Kcnt1 UTSW 2 25,806,011 (GRCm39) missense probably benign 0.11
R7461:Kcnt1 UTSW 2 25,791,358 (GRCm39) missense probably benign 0.01
R7470:Kcnt1 UTSW 2 25,799,845 (GRCm39) missense probably damaging 0.96
R7566:Kcnt1 UTSW 2 25,806,048 (GRCm39) missense probably benign 0.31
R7613:Kcnt1 UTSW 2 25,791,358 (GRCm39) missense probably benign 0.01
R7778:Kcnt1 UTSW 2 25,791,901 (GRCm39) missense probably benign 0.10
R8031:Kcnt1 UTSW 2 25,798,054 (GRCm39) splice site probably benign
R8088:Kcnt1 UTSW 2 25,784,326 (GRCm39) missense possibly damaging 0.63
R8113:Kcnt1 UTSW 2 25,791,223 (GRCm39) missense possibly damaging 0.67
R8378:Kcnt1 UTSW 2 25,797,283 (GRCm39) missense probably benign 0.03
R8954:Kcnt1 UTSW 2 25,784,338 (GRCm39) missense probably benign
R9231:Kcnt1 UTSW 2 25,801,074 (GRCm39) missense probably benign 0.00
R9445:Kcnt1 UTSW 2 25,767,959 (GRCm39) missense probably damaging 1.00
Z1176:Kcnt1 UTSW 2 25,796,808 (GRCm39) missense probably benign 0.07
Z1177:Kcnt1 UTSW 2 25,799,277 (GRCm39) nonsense probably null
Z1177:Kcnt1 UTSW 2 25,791,240 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAGCTGAATAGTGGCAGATCC -3'
(R):5'- CATAGATGATGCCACACTGCAG -3'

Sequencing Primer
(F):5'- AGTGGCAGATCCTTTGACTGTAACC -3'
(R):5'- GATGCCACACTGCAGTAAGCTG -3'
Posted On 2022-11-14