Incidental Mutation 'R3499:Kxd1'
ID473757
Institutional Source Beutler Lab
Gene Symbol Kxd1
Ensembl Gene ENSMUSG00000055553
Gene NameKxDL motif containing 1
Synonyms
MMRRC Submission 040662-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3499 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location70508272-70527956 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 70513982 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081940] [ENSMUST00000093456] [ENSMUST00000117580] [ENSMUST00000118850] [ENSMUST00000121623] [ENSMUST00000124967] [ENSMUST00000125184] [ENSMUST00000129909] [ENSMUST00000132867] [ENSMUST00000135446] [ENSMUST00000138260] [ENSMUST00000140679] [ENSMUST00000155677] [ENSMUST00000165126] [ENSMUST00000137610]
Predicted Effect probably null
Transcript: ENSMUST00000081940
SMART Domains Protein: ENSMUSP00000080608
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: ENSMUST00000093456
AA Change: N163S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000091165
Gene: ENSMUSG00000055553
AA Change: N163S

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

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118850
AA Change: N205S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113816
Gene: ENSMUSG00000055553
AA Change: N205S

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
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 null
Transcript: ENSMUST00000124967
SMART Domains Protein: ENSMUSP00000122797
Gene: ENSMUSG00000090137

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_L40e 77 96 5e-9 PFAM
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000127793
Predicted Effect probably null
Transcript: ENSMUST00000129909
SMART Domains Protein: ENSMUSP00000121149
Gene: ENSMUSG00000090137

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Ribosomal_L40e 77 128 1.02e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132867
Predicted Effect probably null
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: 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 probably null
Transcript: ENSMUST00000140679
SMART Domains Protein: ENSMUSP00000123263
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: ENSMUST00000155677
SMART Domains Protein: ENSMUSP00000123548
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000165126
SMART Domains Protein: ENSMUSP00000137461
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
SMART Domains Protein: ENSMUSP00000121539
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 1.3e-40 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik AC A 17: 47,433,423 probably benign Het
6430571L13Rik A T 9: 107,342,479 T44S probably damaging Het
9530053A07Rik T A 7: 28,154,555 I1648K probably benign Het
Cass4 C T 2: 172,432,558 P753L probably damaging Het
Ctif A T 18: 75,611,757 L92Q possibly damaging Het
Dnah11 C A 12: 117,911,023 D4036Y probably damaging Het
Dnah17 C T 11: 118,080,849 probably benign Het
Dnah6 G C 6: 73,032,633 A3725G probably benign Het
Ebag9 A G 15: 44,630,132 N117D probably benign Het
Elf4 C T X: 48,419,065 E158K probably benign Het
Ephb6 C T 6: 41,616,159 R444* probably null Het
Fndc1 C T 17: 7,753,584 M1505I possibly damaging Het
Gpr35 A G 1: 92,983,391 Y275C probably damaging Het
Hmcn1 A T 1: 150,605,102 I4441N probably damaging Het
Kif13a T C 13: 46,825,339 D195G probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Ksr2 C A 5: 117,689,575 T473K probably damaging Het
Lyplal1 A G 1: 186,088,660 S197P possibly damaging Het
Macf1 A T 4: 123,527,305 L52* probably null Het
Mrgprb5 A G 7: 48,168,913 S25P probably benign Het
Nucb1 T C 7: 45,498,876 H171R probably benign Het
Olfr1049 A G 2: 86,254,841 M284T possibly damaging Het
Olfr1098 A G 2: 86,923,029 F168L possibly damaging Het
Olfr1234 A T 2: 89,362,950 F160I probably benign Het
Olfr689 G A 7: 105,314,400 C132Y probably damaging Het
Olfr934 A G 9: 38,982,465 L193P probably damaging Het
Prkdc A T 16: 15,768,025 I2476F probably damaging Het
Ptprf A T 4: 118,224,930 I1037N probably damaging Het
Ralgapa1 T G 12: 55,695,143 probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,219,203 probably benign Het
Sla2 G A 2: 156,875,942 R137C probably damaging Het
Slc28a3 C T 13: 58,573,439 probably benign Het
Slc44a4 A G 17: 34,921,680 D283G probably benign Het
Slc6a9 A G 4: 117,856,803 I105V probably benign Het
Smgc A G 15: 91,842,003 T51A possibly damaging Het
Smyd5 T A 6: 85,438,190 L60H probably damaging Het
Spred1 A T 2: 117,175,386 M210L probably benign Het
Syne2 G A 12: 76,054,978 probably null Het
Tab3 T C X: 85,615,121 I418T probably benign Het
Tbc1d12 A T 19: 38,896,034 E343V possibly damaging Het
Tktl2 T A 8: 66,513,245 I485N probably damaging Het
Tmem181a T A 17: 6,280,619 Y51* probably null Het
Tmem229b-ps C T 10: 53,475,127 noncoding transcript Het
Trip11 A G 12: 101,893,694 I307T possibly damaging Het
Ttf1 T C 2: 29,065,487 S288P possibly damaging Het
Zfp395 G T 14: 65,391,293 R198L possibly damaging Het
Other mutations in Kxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Kxd1 APN 8 70515443 critical splice acceptor site probably null
IGL02331:Kxd1 APN 8 70515440 missense probably benign 0.10
IGL03268:Kxd1 APN 8 70508486 missense probably damaging 1.00
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
Predicted Primers
Posted On2017-04-14