Incidental Mutation 'IGL01621:Hcn3'
ID92597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcn3
Ensembl Gene ENSMUSG00000028051
Gene Namehyperpolarization-activated, cyclic nucleotide-gated K+ 3
SynonymsHac3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #IGL01621
Quality Score
Status
Chromosome3
Chromosomal Location89146074-89160196 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 89147723 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 739 (S739Y)
Ref Sequence ENSEMBL: ENSMUSP00000029686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029686] [ENSMUST00000047111] [ENSMUST00000107482]
Predicted Effect probably damaging
Transcript: ENSMUST00000029686
AA Change: S739Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029686
Gene: ENSMUSG00000028051
AA Change: S739Y

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
Pfam:Ion_trans_N 48 91 1.3e-22 PFAM
Pfam:Ion_trans 92 357 3.7e-25 PFAM
low complexity region 358 369 N/A INTRINSIC
Blast:cNMP 370 402 7e-14 BLAST
cNMP 427 540 2.32e-20 SMART
Blast:cNMP 548 588 2e-17 BLAST
low complexity region 636 656 N/A INTRINSIC
low complexity region 698 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047111
SMART Domains Protein: ENSMUSP00000035417
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
low complexity region 23 37 N/A INTRINSIC
Pfam:PK 85 438 6.9e-165 PFAM
Pfam:PK_C 453 571 3.6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107482
SMART Domains Protein: ENSMUSP00000103106
Gene: ENSMUSG00000041237

DomainStartEndE-ValueType
Pfam:PK 54 407 3.1e-163 PFAM
Pfam:PK_C 421 541 4.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133368
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ventricular action potential waveform. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 63,898,383 T154I possibly damaging Het
4933434E20Rik T A 3: 90,064,502 M56K possibly damaging Het
5730559C18Rik C A 1: 136,219,775 A402S probably damaging Het
A730017C20Rik A G 18: 59,062,386 M1V probably null Het
Abca6 A G 11: 110,184,708 L1319S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Aloxe3 A G 11: 69,130,013 N188S probably benign Het
Ap1s1 G A 5: 137,041,804 R119* probably null Het
Apc2 T G 10: 80,306,201 L318R probably damaging Het
Atg101 A G 15: 101,287,095 S33G possibly damaging Het
Atp8a2 A T 14: 60,015,868 probably benign Het
Bpifb9b C A 2: 154,316,951 probably null Het
Braf A T 6: 39,646,853 probably benign Het
Cabp5 A G 7: 13,401,264 D43G probably damaging Het
Cfap46 T C 7: 139,606,607 N2462S unknown Het
Cit C T 5: 115,992,603 probably benign Het
Cpa4 T C 6: 30,574,416 V68A probably damaging Het
Cyp2j5 T C 4: 96,629,554 I474V probably benign Het
Dennd1a C A 2: 37,844,809 D49Y probably damaging Het
Dlg5 T C 14: 24,148,221 D1525G probably damaging Het
Dnajc18 C T 18: 35,680,840 R292H probably benign Het
Dync2h1 A G 9: 7,140,897 probably null Het
E2f6 A G 12: 16,825,368 D268G probably benign Het
Evi2b T A 11: 79,516,300 T150S probably damaging Het
F13b A G 1: 139,503,851 D53G probably benign Het
Fbxo38 G A 18: 62,522,524 probably benign Het
Flnb C T 14: 7,950,470 P2596L probably damaging Het
Fyco1 A G 9: 123,827,182 probably benign Het
Gm13023 T C 4: 143,793,932 F85L probably benign Het
Gm21759 A G 5: 8,179,775 probably benign Het
Gtse1 A G 15: 85,875,082 N597S probably benign Het
Ighv9-4 T A 12: 114,299,992 N107I probably damaging Het
Iqub T C 6: 24,446,212 K738E probably benign Het
Itga6 A T 2: 71,825,656 D308V probably benign Het
Klf12 T C 14: 100,023,149 Y48C probably damaging Het
Klhdc9 A G 1: 171,358,816 *351Q probably null Het
Krt40 A T 11: 99,542,868 N97K probably damaging Het
Lrit1 A C 14: 37,060,155 T262P probably damaging Het
Mcoln1 T C 8: 3,510,910 Y411H probably damaging Het
Mfsd4a A G 1: 132,054,143 S149P probably benign Het
Mipep A G 14: 60,796,165 probably benign Het
Mslnl A G 17: 25,743,667 probably benign Het
N4bp2 A T 5: 65,790,924 H299L probably damaging Het
Nbn C T 4: 15,965,221 P190S probably benign Het
Nos1 T A 5: 117,945,884 I1253N probably damaging Het
Nup210 G T 6: 91,030,117 F572L probably damaging Het
Olfr1381 T C 11: 49,552,137 L130P probably damaging Het
Olfr370 T C 8: 83,541,618 V158A probably benign Het
Olfr390 T C 11: 73,787,277 F113S probably damaging Het
P4htm T A 9: 108,583,736 E106V probably damaging Het
Pcdhb20 C T 18: 37,504,807 H129Y possibly damaging Het
Pdcd6ip T C 9: 113,685,422 E240G probably benign Het
Pex5l T C 3: 33,014,961 probably null Het
Plcd1 T C 9: 119,076,178 N181S probably damaging Het
Plekhg6 G T 6: 125,372,099 L412M probably damaging Het
Ppp1r13b T A 12: 111,835,092 Q386L possibly damaging Het
Prpf40b A G 15: 99,310,045 probably benign Het
Rdh11 C T 12: 79,186,413 probably null Het
Ripor3 A T 2: 167,997,252 S110T probably damaging Het
Sec24d G A 3: 123,294,158 probably null Het
Secisbp2l T C 2: 125,773,211 S165G probably benign Het
Shank1 C T 7: 44,342,465 A698V unknown Het
Shank1 T C 7: 44,351,599 M914T unknown Het
Slc22a3 T C 17: 12,458,492 Q263R probably benign Het
Smc1a C A X: 152,036,129 Q647K probably damaging Het
Sohlh1 A G 2: 25,846,861 probably benign Het
Tacc2 C A 7: 130,729,768 T484K probably damaging Het
Ubr4 G T 4: 139,440,783 E2825* probably null Het
Wbp2nl G A 15: 82,308,605 M163I probably benign Het
Zfp69 T A 4: 120,931,500 K206M probably damaging Het
Zswim3 G A 2: 164,821,520 R640H probably damaging Het
Other mutations in Hcn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02285:Hcn3 APN 3 89152812 missense probably damaging 1.00
IGL02557:Hcn3 APN 3 89149871 missense probably damaging 1.00
R0027:Hcn3 UTSW 3 89159825 missense probably damaging 0.99
R0189:Hcn3 UTSW 3 89148800 missense probably damaging 0.98
R0442:Hcn3 UTSW 3 89151540 missense probably damaging 0.97
R0454:Hcn3 UTSW 3 89152894 missense probably damaging 0.98
R0732:Hcn3 UTSW 3 89148786 missense probably damaging 1.00
R1732:Hcn3 UTSW 3 89148119 missense probably damaging 0.97
R1900:Hcn3 UTSW 3 89148263 missense probably benign 0.00
R2277:Hcn3 UTSW 3 89147861 missense probably benign 0.02
R2279:Hcn3 UTSW 3 89147861 missense probably benign 0.02
R2331:Hcn3 UTSW 3 89148090 missense probably benign 0.01
R2916:Hcn3 UTSW 3 89147613 missense probably benign
R2918:Hcn3 UTSW 3 89147613 missense probably benign
R4604:Hcn3 UTSW 3 89150440 missense probably damaging 1.00
R4749:Hcn3 UTSW 3 89150063 splice site probably null
R5095:Hcn3 UTSW 3 89149923 missense probably damaging 0.99
R5776:Hcn3 UTSW 3 89148105 missense probably benign 0.03
R5984:Hcn3 UTSW 3 89148263 missense probably benign 0.00
R6389:Hcn3 UTSW 3 89150933 missense possibly damaging 0.70
R6736:Hcn3 UTSW 3 89152674 missense probably damaging 1.00
R6860:Hcn3 UTSW 3 89159845 missense possibly damaging 0.73
R6909:Hcn3 UTSW 3 89152629 critical splice donor site probably null
R7549:Hcn3 UTSW 3 89150000 missense probably null 0.51
Posted On2013-12-09