Incidental Mutation 'R0598:Kctd1'
ID 55183
Institutional Source Beutler Lab
Gene Symbol Kctd1
Ensembl Gene ENSMUSG00000036225
Gene Name potassium channel tetramerisation domain containing 1
Synonyms 4933402K10Rik
MMRRC Submission 038787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0598 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 15101742-15284503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15140822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 40 (V40A)
Ref Sequence ENSEMBL: ENSMUSP00000025992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025992] [ENSMUST00000168989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025992
AA Change: V40A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025992
Gene: ENSMUSG00000036225
AA Change: V40A

DomainStartEndE-ValueType
BTB 38 140 5e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000096579
Predicted Effect probably damaging
Transcript: ENSMUST00000168989
AA Change: V636A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128070
Gene: ENSMUSG00000036225
AA Change: V636A

DomainStartEndE-ValueType
low complexity region 14 44 N/A INTRINSIC
low complexity region 52 62 N/A INTRINSIC
low complexity region 70 101 N/A INTRINSIC
low complexity region 124 145 N/A INTRINSIC
low complexity region 217 234 N/A INTRINSIC
Pfam:DUF3504 278 435 2.6e-32 PFAM
low complexity region 482 503 N/A INTRINSIC
low complexity region 559 567 N/A INTRINSIC
BTB 634 736 5e-7 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,754,681 (GRCm39) E198D possibly damaging Het
Abca6 A T 11: 110,087,980 (GRCm39) I1049N probably damaging Het
Acly A T 11: 100,369,216 (GRCm39) N1014K probably damaging Het
Aoc1l1 A G 6: 48,952,471 (GRCm39) E132G probably benign Het
Aph1c A T 9: 66,740,601 (GRCm39) W42R probably damaging Het
Bptf G T 11: 106,963,791 (GRCm39) T1738K probably damaging Het
Cdhr2 A T 13: 54,874,552 (GRCm39) I875F probably damaging Het
Cpt2 G T 4: 107,764,135 (GRCm39) T543N probably damaging Het
Cstdc7 T A 18: 42,306,436 (GRCm39) M1K probably null Het
Dnah9 T C 11: 66,009,703 (GRCm39) E728G probably benign Het
Itgbl1 A G 14: 124,094,848 (GRCm39) H167R possibly damaging Het
L3mbtl4 T G 17: 68,766,768 (GRCm39) D158E probably benign Het
Lrp8 A C 4: 107,714,434 (GRCm39) I603L possibly damaging Het
Lypd8l G A 11: 58,499,230 (GRCm39) S196L probably benign Het
Mrps9 C T 1: 42,944,577 (GRCm39) T365I probably damaging Het
Or1a1 A T 11: 74,086,658 (GRCm39) T110S possibly damaging Het
Or1e1 G T 11: 73,244,729 (GRCm39) R50L probably benign Het
Or2y1d A G 11: 49,322,230 (GRCm39) D309G probably benign Het
Padi1 C A 4: 140,542,098 (GRCm39) R608L possibly damaging Het
Pkhd1 A T 1: 20,271,114 (GRCm39) F3146L probably damaging Het
Rnf145 T C 11: 44,439,770 (GRCm39) S189P probably damaging Het
Sez6 G T 11: 77,868,647 (GRCm39) D974Y possibly damaging Het
St3gal3 A T 4: 117,964,829 (GRCm39) L11Q probably benign Het
Syt14 T C 1: 192,579,622 (GRCm39) E554G probably damaging Het
Tectb G T 19: 55,178,018 (GRCm39) E170* probably null Het
Themis2 A T 4: 132,516,994 (GRCm39) C169S possibly damaging Het
Tmem88b A T 4: 155,868,824 (GRCm39) D141E probably benign Het
Uaca T A 9: 60,778,203 (GRCm39) Y685* probably null Het
Vsnl1 T C 12: 11,436,860 (GRCm39) S40G probably benign Het
Vxn T G 1: 9,690,067 (GRCm39) I98S probably benign Het
Wdr64 A T 1: 175,633,465 (GRCm39) Q905H probably damaging Het
Other mutations in Kctd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Kctd1 APN 18 15,195,747 (GRCm39) missense possibly damaging 0.51
IGL01402:Kctd1 APN 18 15,102,610 (GRCm39) missense probably damaging 0.98
IGL01404:Kctd1 APN 18 15,102,610 (GRCm39) missense probably damaging 0.98
IGL01755:Kctd1 APN 18 15,195,694 (GRCm39) missense possibly damaging 0.86
IGL02606:Kctd1 APN 18 15,195,937 (GRCm39) missense possibly damaging 0.73
IGL02725:Kctd1 APN 18 15,102,667 (GRCm39) missense possibly damaging 0.67
IGL02946:Kctd1 APN 18 15,107,036 (GRCm39) critical splice donor site probably null
R0128:Kctd1 UTSW 18 15,107,237 (GRCm39) missense probably benign 0.00
R1398:Kctd1 UTSW 18 15,195,654 (GRCm39) missense possibly damaging 0.85
R1669:Kctd1 UTSW 18 15,195,517 (GRCm39) missense possibly damaging 0.71
R1701:Kctd1 UTSW 18 15,102,617 (GRCm39) missense possibly damaging 0.95
R1745:Kctd1 UTSW 18 15,196,263 (GRCm39) intron probably benign
R1779:Kctd1 UTSW 18 15,194,839 (GRCm39) missense probably benign 0.01
R2083:Kctd1 UTSW 18 15,107,112 (GRCm39) missense possibly damaging 0.89
R2389:Kctd1 UTSW 18 15,195,268 (GRCm39) missense possibly damaging 0.73
R3010:Kctd1 UTSW 18 15,107,143 (GRCm39) missense probably damaging 1.00
R4576:Kctd1 UTSW 18 15,140,757 (GRCm39) missense probably damaging 1.00
R4673:Kctd1 UTSW 18 15,196,284 (GRCm39) intron probably benign
R4884:Kctd1 UTSW 18 15,107,311 (GRCm39) missense probably damaging 1.00
R4961:Kctd1 UTSW 18 15,195,580 (GRCm39) missense probably damaging 0.97
R5169:Kctd1 UTSW 18 15,195,822 (GRCm39) missense possibly damaging 0.72
R5398:Kctd1 UTSW 18 15,195,322 (GRCm39) missense possibly damaging 0.86
R5695:Kctd1 UTSW 18 15,196,573 (GRCm39) intron probably benign
R5893:Kctd1 UTSW 18 15,102,745 (GRCm39) missense possibly damaging 0.93
R6175:Kctd1 UTSW 18 15,102,688 (GRCm39) nonsense probably null
R6767:Kctd1 UTSW 18 15,195,232 (GRCm39) missense possibly damaging 0.53
R6852:Kctd1 UTSW 18 15,119,401 (GRCm39) missense possibly damaging 0.72
R6889:Kctd1 UTSW 18 15,107,045 (GRCm39) missense probably damaging 1.00
R7189:Kctd1 UTSW 18 15,195,700 (GRCm39) missense possibly damaging 0.71
R7228:Kctd1 UTSW 18 15,195,469 (GRCm39) missense possibly damaging 0.95
R7688:Kctd1 UTSW 18 15,107,255 (GRCm39) missense probably benign 0.03
R8085:Kctd1 UTSW 18 15,140,901 (GRCm39) missense possibly damaging 0.95
R8195:Kctd1 UTSW 18 15,196,300 (GRCm39) missense unknown
R8496:Kctd1 UTSW 18 15,107,228 (GRCm39) missense probably damaging 1.00
R8924:Kctd1 UTSW 18 15,102,745 (GRCm39) missense possibly damaging 0.93
R8978:Kctd1 UTSW 18 15,119,491 (GRCm39) missense
R9094:Kctd1 UTSW 18 15,195,369 (GRCm39) missense possibly damaging 0.71
R9255:Kctd1 UTSW 18 15,194,853 (GRCm39) missense probably benign 0.00
R9629:Kctd1 UTSW 18 15,196,611 (GRCm39) missense unknown
R9680:Kctd1 UTSW 18 15,140,822 (GRCm39) missense probably damaging 1.00
Z1176:Kctd1 UTSW 18 15,196,182 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGAGCAGCTTCTGTAGGTCATGTC -3'
(R):5'- AAGCCCTGAGAGTCATCAGGACTG -3'

Sequencing Primer
(F):5'- AGGTCATGTCTTACACTTGGCAG -3'
(R):5'- AATTGATCCCCATTGGCACG -3'
Posted On 2013-07-11