Incidental Mutation 'IGL02331:Kxd1'
ID288692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kxd1
Ensembl Gene ENSMUSG00000055553
Gene NameKxDL motif containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02331
Quality Score
Status
Chromosome8
Chromosomal Location70508272-70527956 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70515440 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 128 (T128A)
Ref Sequence ENSEMBL: ENSMUSP00000113816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093456] [ENSMUST00000117580] [ENSMUST00000118850] [ENSMUST00000121623] [ENSMUST00000125184] [ENSMUST00000132867] [ENSMUST00000135446] [ENSMUST00000137610] [ENSMUST00000138260] [ENSMUST00000155677]
Predicted Effect probably benign
Transcript: ENSMUST00000093456
AA Change: T86A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553
AA Change: T86A

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: T86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553
AA Change: T86A

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118850
AA Change: T128A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113816
Gene: ENSMUSG00000055553
AA Change: T128A

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 probably benign
Transcript: ENSMUST00000121623
AA Change: T86A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113804
Gene: ENSMUSG00000055553
AA Change: T86A

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: ENSMUST00000125184
SMART Domains Protein: ENSMUSP00000120096
Gene: ENSMUSG00000090137

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_L40e 77 128 4.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132867
Predicted Effect probably benign
Transcript: ENSMUST00000135446
SMART Domains Protein: ENSMUSP00000123562
Gene: ENSMUSG00000090137

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_L40e 77 128 4.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137610
AA Change: T86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121539
Gene: ENSMUSG00000055553
AA Change: T86A

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.3e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138260
AA Change: T86A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553
AA Change: T86A

DomainStartEndE-ValueType
Pfam:KxDL 12 99 9.2e-40 PFAM
UBQ 105 176 2.14e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138586
Predicted Effect probably benign
Transcript: ENSMUST00000155677
AA Change: T86A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123548
Gene: ENSMUSG00000055553
AA Change: T86A

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Arnt2 A G 7: 84,265,624 Y511H probably damaging Het
Bmp7 A T 2: 172,872,931 C362S probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 probably null Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Elovl5 T C 9: 77,979,899 S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pilra C A 5: 137,835,655 G47* probably null Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Kxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Kxd1 APN 8 70515443 critical splice acceptor site probably null
IGL03268:Kxd1 APN 8 70508486 missense probably damaging 1.00
R3499:Kxd1 UTSW 8 70513982 splice site probably null
R6101:Kxd1 UTSW 8 70519939 missense probably benign 0.15
R6105:Kxd1 UTSW 8 70519939 missense probably benign 0.15
R6302:Kxd1 UTSW 8 70520063 critical splice acceptor site probably null
R6925:Kxd1 UTSW 8 70523278 start codon destroyed probably null
R7154:Kxd1 UTSW 8 70515434 missense probably damaging 1.00
R8032:Kxd1 UTSW 8 70514141 missense possibly damaging 0.69
Posted On2015-04-16