Incidental Mutation 'R6105:Kxd1'
ID 485473
Institutional Source Beutler Lab
Gene Symbol Kxd1
Ensembl Gene ENSMUSG00000055553
Gene Name KxDL motif containing 1
Synonyms 2810422J05Rik, 0610030B01Rik
MMRRC Submission 044255-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6105 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 70966046-70975830 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70972589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 33 (N33K)
Ref Sequence ENSEMBL: ENSMUSP00000123548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093456] [ENSMUST00000117580] [ENSMUST00000118850] [ENSMUST00000121623] [ENSMUST00000132867] [ENSMUST00000137610] [ENSMUST00000138260] [ENSMUST00000155677]
AlphaFold Q80XH1
Predicted Effect probably benign
Transcript: ENSMUST00000093456
AA Change: N33K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.9e-40 PFAM
low complexity region 115 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117580
AA Change: N33K

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118850
AA Change: N75K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113816
Gene: ENSMUSG00000055553
AA Change: N75K

DomainStartEndE-ValueType
low complexity region 32 40 N/A INTRINSIC
Pfam:KxDL 54 141 1.2e-39 PFAM
low complexity region 157 166 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000121623
AA Change: N33K
SMART Domains Protein: ENSMUSP00000113804
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 14 99 3.3e-34 PFAM
UBQ 105 176 2.14e-36 SMART
Ribosomal_L40e 181 232 1.02e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132867
Predicted Effect probably benign
Transcript: ENSMUST00000137610
AA Change: N33K

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121539
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.3e-40 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138260
AA Change: N33K
SMART Domains Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 12 99 9.2e-40 PFAM
UBQ 105 176 2.14e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155677
AA Change: N33K

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123548
Gene: ENSMUSG00000055553
AA Change: N33K

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138586
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced melanosomes in the choroid and retinal pigment epithelium and decreased platelet dense granule number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,347,812 (GRCm39) M3555T probably damaging Het
Adam9 A T 8: 25,460,775 (GRCm39) C570S probably damaging Het
Adh6b T A 3: 138,063,471 (GRCm39) I350K possibly damaging Het
Ahnak G A 19: 8,981,463 (GRCm39) V916I probably benign Het
Aldh4a1 C T 4: 139,365,806 (GRCm39) P266S possibly damaging Het
Cnot7 C T 8: 40,963,078 (GRCm39) R32Q probably benign Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Glul T A 1: 153,782,177 (GRCm39) Y137* probably null Het
Ipo8 A G 6: 148,700,168 (GRCm39) Y570H probably damaging Het
Kif2b A G 11: 91,466,814 (GRCm39) S490P probably benign Het
Man2a2 T C 7: 80,016,749 (GRCm39) D355G probably damaging Het
Map6 T C 7: 98,917,314 (GRCm39) V29A probably damaging Het
Mtmr3 T C 11: 4,435,432 (GRCm39) D1116G probably damaging Het
Or4p23 T A 2: 88,577,184 (GRCm39) H16L probably benign Het
Or8b52 A G 9: 38,576,916 (GRCm39) S75P probably damaging Het
Or8d2b T C 9: 38,788,604 (GRCm39) L44P possibly damaging Het
Pak1ip1 T A 13: 41,158,361 (GRCm39) L78Q probably damaging Het
Phf10 C T 17: 15,174,387 (GRCm39) probably null Het
Pikfyve A G 1: 65,303,504 (GRCm39) probably null Het
Pkd1l3 A G 8: 110,367,478 (GRCm39) D1225G probably damaging Het
Postn A G 3: 54,279,641 (GRCm39) probably null Het
Slc22a30 T C 19: 8,315,232 (GRCm39) probably null Het
Specc1l T C 10: 75,084,466 (GRCm39) S730P probably damaging Het
Steap2 T A 5: 5,725,891 (GRCm39) I378F possibly damaging Het
Sult4a1 T A 15: 83,970,821 (GRCm39) K195* probably null Het
Tgfb1i1 T A 7: 127,847,589 (GRCm39) probably null Het
Thbs4 G T 13: 92,911,993 (GRCm39) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,389,698 (GRCm39) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,042 (GRCm39) C125* probably null Het
Trappc8 A G 18: 20,979,504 (GRCm39) probably null Het
Trpm6 C T 19: 18,831,112 (GRCm39) R1326* probably null Het
Vmn2r19 A C 6: 123,293,054 (GRCm39) E365D possibly damaging Het
Vps18 A G 2: 119,119,543 (GRCm39) Y8C probably damaging Het
Zc3hav1l A G 6: 38,270,012 (GRCm39) V279A probably benign Het
Zfp111 T C 7: 23,902,791 (GRCm39) probably null Het
Zfp618 A T 4: 63,051,478 (GRCm39) Q753L probably benign Het
Zkscan17 A T 11: 59,394,401 (GRCm39) C67S probably damaging Het
Other mutations in Kxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Kxd1 APN 8 70,968,093 (GRCm39) critical splice acceptor site probably null
IGL02331:Kxd1 APN 8 70,968,090 (GRCm39) missense probably benign 0.10
IGL03268:Kxd1 APN 8 70,961,136 (GRCm39) missense probably damaging 1.00
R3499:Kxd1 UTSW 8 70,966,632 (GRCm39) splice site probably null
R6101:Kxd1 UTSW 8 70,972,589 (GRCm39) missense probably benign 0.15
R6302:Kxd1 UTSW 8 70,972,713 (GRCm39) critical splice acceptor site probably null
R6925:Kxd1 UTSW 8 70,975,928 (GRCm39) start codon destroyed probably null
R7154:Kxd1 UTSW 8 70,968,084 (GRCm39) missense probably damaging 1.00
R8032:Kxd1 UTSW 8 70,966,791 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGCCAATGCCAAAAGCTAGC -3'
(R):5'- TGATGAGTTCTTGACATCACCTG -3'

Sequencing Primer
(F):5'- CAGAAGAGCCTCTGAGTATTCCTG -3'
(R):5'- GTCTCGTGCTGACCTCACATTG -3'
Posted On 2017-08-16