Incidental Mutation 'R6214:Kcnd1'
ID 503638
Institutional Source Beutler Lab
Gene Symbol Kcnd1
Ensembl Gene ENSMUSG00000009731
Gene Name potassium voltage-gated channel, Shal-related family, member 1
Synonyms Kca2-1, Kv4.1, 1110037K09Rik, mShal1, Shal
MMRRC Submission 044347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6214 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 7688528-7704519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 7690148 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Alanine to Proline at position 23 (A23P)
Ref Sequence ENSEMBL: ENSMUSP00000009875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009875] [ENSMUST00000065932] [ENSMUST00000101694] [ENSMUST00000115675]
AlphaFold Q03719
Predicted Effect probably damaging
Transcript: ENSMUST00000009875
AA Change: A23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009875
Gene: ENSMUSG00000009731
AA Change: A23P

DomainStartEndE-ValueType
Pfam:Shal-type 3 31 3.1e-16 PFAM
BTB 40 139 2.4e-18 SMART
low complexity region 147 165 N/A INTRINSIC
Pfam:Ion_trans 185 419 3.5e-46 PFAM
Pfam:Ion_trans_2 332 413 2e-14 PFAM
Pfam:DUF3399 447 550 3.4e-40 PFAM
low complexity region 614 625 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065932
SMART Domains Protein: ENSMUSP00000068789
Gene: ENSMUSG00000031153

DomainStartEndE-ValueType
coiled coil region 4 33 N/A INTRINSIC
coiled coil region 61 158 N/A INTRINSIC
coiled coil region 204 606 N/A INTRINSIC
coiled coil region 666 700 N/A INTRINSIC
Blast:BTB 724 776 2e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000101694
SMART Domains Protein: ENSMUSP00000099218
Gene: ENSMUSG00000031153

DomainStartEndE-ValueType
coiled coil region 4 113 N/A INTRINSIC
coiled coil region 159 592 N/A INTRINSIC
coiled coil region 652 686 N/A INTRINSIC
Blast:BTB 710 762 2e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115675
SMART Domains Protein: ENSMUSP00000111339
Gene: ENSMUSG00000031153

DomainStartEndE-ValueType
coiled coil region 4 33 N/A INTRINSIC
coiled coil region 61 158 N/A INTRINSIC
coiled coil region 204 637 N/A INTRINSIC
coiled coil region 697 731 N/A INTRINSIC
Blast:BTB 755 807 2e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144946
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: This gene encodes a multipass transmembrane protein that comprises a subunit of voltage-gated rapidly inactivating A-type potassium channels. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 A C 4: 135,968,736 (GRCm39) D727A possibly damaging Het
Aste1 A G 9: 105,274,056 (GRCm39) K38E probably damaging Het
Atp13a5 T C 16: 29,070,159 (GRCm39) Y909C probably damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cd79b C A 11: 106,203,267 (GRCm39) probably null Het
Chia1 T C 3: 106,029,761 (GRCm39) F132L probably damaging Het
Cntrl A G 2: 35,019,646 (GRCm39) E491G probably benign Het
Ctdnep1 T C 11: 69,880,334 (GRCm39) F206L probably damaging Het
Dido1 T C 2: 180,303,945 (GRCm39) K1320E probably damaging Het
Dmbt1 G T 7: 130,668,463 (GRCm39) C573F possibly damaging Het
Dmtn A G 14: 70,850,776 (GRCm39) I205T probably benign Het
Eif4g3 C T 4: 137,785,314 (GRCm39) H137Y probably damaging Het
Flg2 G T 3: 93,109,166 (GRCm39) C398F possibly damaging Het
Gabbr1 A G 17: 37,380,257 (GRCm39) D604G probably damaging Het
Glis2 T A 16: 4,428,197 (GRCm39) L83* probably null Het
Glra3 A G 8: 56,444,291 (GRCm39) probably null Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
Lrrc9 A T 12: 72,506,627 (GRCm39) E301D probably damaging Het
Ms4a6c T C 19: 11,448,500 (GRCm39) I11T possibly damaging Het
Myo1d A T 11: 80,670,617 (GRCm39) M1K probably null Het
Nav3 A G 10: 109,688,426 (GRCm39) L617P probably damaging Het
Or8b3b A G 9: 38,584,510 (GRCm39) S90P probably benign Het
Pcsk7 A C 9: 45,821,674 (GRCm39) N156T possibly damaging Het
Pde4d C T 13: 110,085,967 (GRCm39) S515L probably damaging Het
Pira13 A G 7: 3,824,717 (GRCm39) I554T probably damaging Het
Prom2 A G 2: 127,381,695 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Scn3a T C 2: 65,325,380 (GRCm39) I1046V probably benign Het
Slc13a1 A T 6: 24,090,795 (GRCm39) Y541* probably null Het
Speer1d C T 5: 11,307,197 (GRCm39) T25I probably damaging Het
Spen C T 4: 141,206,423 (GRCm39) E735K unknown Het
Tm6sf2 T C 8: 70,525,724 (GRCm39) V27A possibly damaging Het
Trim21 A G 7: 102,208,646 (GRCm39) S358P probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Ttn T A 2: 76,710,552 (GRCm39) probably benign Het
Vmn2r99 A G 17: 19,602,820 (GRCm39) Q525R probably benign Het
Vsig10 G A 5: 117,481,989 (GRCm39) C393Y probably damaging Het
Ywhag A G 5: 135,939,928 (GRCm39) I222T probably damaging Het
Other mutations in Kcnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Kcnd1 APN X 7,702,672 (GRCm39) missense probably benign
R0437:Kcnd1 UTSW X 7,690,922 (GRCm39) missense probably benign
R0479:Kcnd1 UTSW X 7,697,461 (GRCm39) missense possibly damaging 0.88
R2264:Kcnd1 UTSW X 7,690,323 (GRCm39) splice site probably null
R6213:Kcnd1 UTSW X 7,690,148 (GRCm39) missense probably damaging 1.00
R6215:Kcnd1 UTSW X 7,690,148 (GRCm39) missense probably damaging 1.00
R6216:Kcnd1 UTSW X 7,690,148 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCCTTAGAAAGCTCCCC -3'
(R):5'- AGTACTCGCCAGATTCAGCATC -3'

Sequencing Primer
(F):5'- CAAGCCCCCTAAGTTCCTG -3'
(R):5'- TCGCCAGATTCAGCATCATAGAAG -3'
Posted On 2018-02-27