Incidental Mutation 'IGL01340:Kxd1'
ID74833
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 #IGL01340
Quality Score
Status
Chromosome8
Chromosomal Location70508272-70527956 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 70515443 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093456] [ENSMUST00000117580] [ENSMUST00000118850] [ENSMUST00000121623] [ENSMUST00000125184] [ENSMUST00000132867] [ENSMUST00000135446] [ENSMUST00000137610] [ENSMUST00000138260] [ENSMUST00000155677]
Predicted Effect probably null
Transcript: ENSMUST00000093456
SMART Domains Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.9e-40 PFAM
low complexity region 115 124 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117580
SMART Domains Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000118850
SMART Domains Protein: ENSMUSP00000113816
Gene: ENSMUSG00000055553

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 null
Transcript: ENSMUST00000121623
SMART Domains Protein: ENSMUSP00000113804
Gene: ENSMUSG00000055553

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 null
Transcript: ENSMUST00000137610
SMART Domains Protein: ENSMUSP00000121539
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.3e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000138260
SMART Domains Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553

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
SMART Domains Protein: ENSMUSP00000123548
Gene: ENSMUSG00000055553

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Aplp1 G A 7: 30,444,418 T64I probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap221 T A 1: 119,953,620 I371F possibly damaging Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Olfr1208 T C 2: 88,896,977 T207A probably damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slco1a6 A T 6: 142,109,383 N278K possibly damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Xab2 A T 8: 3,614,381 D277E probably damaging Het
Zbbx T C 3: 75,105,650 E158G possibly damaging Het
Other mutations in Kxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Kxd1 APN 8 70515440 missense probably benign 0.10
IGL03268:Kxd1 APN 8 70508486 missense probably damaging 1.00
R3499:Kxd1 UTSW 8 70513982 unclassified 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
Posted On2013-10-07