Incidental Mutation 'IGL01669:D930020B18Rik'
ID103406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D930020B18Rik
Ensembl Gene ENSMUSG00000047642
Gene NameRIKEN cDNA D930020B18 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01669
Quality Score
Status
Chromosome10
Chromosomal Location121641588-121693915 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121683961 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 456 (K456R)
Ref Sequence ENSEMBL: ENSMUSP00000113963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120642] [ENSMUST00000132744] [ENSMUST00000140802]
Predicted Effect probably benign
Transcript: ENSMUST00000120642
AA Change: K456R

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113963
Gene: ENSMUSG00000047642
AA Change: K456R

DomainStartEndE-ValueType
Pfam:DUF4551 11 617 3.2e-237 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132744
AA Change: K280R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000118274
Gene: ENSMUSG00000047642
AA Change: K280R

DomainStartEndE-ValueType
Pfam:DUF4551 1 148 3.6e-66 PFAM
Pfam:DUF4551 142 443 6.1e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140802
SMART Domains Protein: ENSMUSP00000121976
Gene: ENSMUSG00000047642

DomainStartEndE-ValueType
Pfam:DUF4551 1 151 8.7e-68 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Aifm3 A C 16: 17,503,541 K453T probably benign Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in D930020B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:D930020B18Rik APN 10 121685584 missense probably damaging 1.00
IGL01793:D930020B18Rik APN 10 121671831 missense probably damaging 1.00
IGL01907:D930020B18Rik APN 10 121642010 missense probably damaging 0.97
IGL01981:D930020B18Rik APN 10 121692414 missense probably damaging 0.98
IGL02545:D930020B18Rik APN 10 121689933 missense possibly damaging 0.87
IGL03024:D930020B18Rik APN 10 121685622 splice site probably benign
sluggo UTSW 10 121654836 missense probably damaging 1.00
R0022:D930020B18Rik UTSW 10 121671770 missense probably damaging 0.97
R0023:D930020B18Rik UTSW 10 121689821 missense probably damaging 0.99
R1872:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R2340:D930020B18Rik UTSW 10 121654836 missense probably damaging 1.00
R4074:D930020B18Rik UTSW 10 121656218 intron probably benign
R4990:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4990:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654761 missense probably damaging 1.00
R4992:D930020B18Rik UTSW 10 121654762 missense probably damaging 1.00
R5096:D930020B18Rik UTSW 10 121667804 missense probably benign 0.19
R5677:D930020B18Rik UTSW 10 121669201 missense probably benign 0.00
R6401:D930020B18Rik UTSW 10 121641857 missense possibly damaging 0.95
R6481:D930020B18Rik UTSW 10 121661148 critical splice donor site probably null
R7070:D930020B18Rik UTSW 10 121641974 missense probably damaging 1.00
R7250:D930020B18Rik UTSW 10 121671831 missense probably damaging 1.00
R7365:D930020B18Rik UTSW 10 121667811 splice site probably null
R7408:D930020B18Rik UTSW 10 121689834 missense probably damaging 1.00
R7446:D930020B18Rik UTSW 10 121667745 missense possibly damaging 0.94
R7559:D930020B18Rik UTSW 10 121656226 intron probably benign
R8215:D930020B18Rik UTSW 10 121667524 nonsense probably null
R8410:D930020B18Rik UTSW 10 121685530 splice site probably benign
R8790:D930020B18Rik UTSW 10 121667663 missense not run
X0021:D930020B18Rik UTSW 10 121641885 missense probably null 1.00
Z1176:D930020B18Rik UTSW 10 121667616 missense probably benign 0.01
Z1177:D930020B18Rik UTSW 10 121689912 missense probably damaging 1.00
Posted On2014-01-21