Incidental Mutation 'IGL02983:1700020D05Rik'
ID 406640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700020D05Rik
Ensembl Gene ENSMUSG00000100937
Gene Name RIKEN cDNA 1700020D05 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02983
Quality Score
Status
Chromosome 19
Chromosomal Location 5502767-5503787 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5503181 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 191 (F191L)
Ref Sequence ENSEMBL: ENSMUSP00000140922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070172] [ENSMUST00000189704]
AlphaFold Q99PB1
Predicted Effect probably benign
Transcript: ENSMUST00000070172
SMART Domains Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185

DomainStartEndE-ValueType
Pfam:PX 24 165 1.4e-19 PFAM
Pfam:Vps5 183 394 9.9e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189704
AA Change: F191L

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140922
Gene: ENSMUSG00000100937
AA Change: F191L

DomainStartEndE-ValueType
Pfam:MAGE 82 253 2.2e-57 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in 1700020D05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03285:1700020D05Rik APN 19 5503177 missense probably damaging 1.00
R4445:1700020D05Rik UTSW 19 5502994 missense probably damaging 1.00
R4804:1700020D05Rik UTSW 19 5503000 missense possibly damaging 0.82
R5449:1700020D05Rik UTSW 19 5503264 missense probably benign 0.44
R5542:1700020D05Rik UTSW 19 5503435 missense probably damaging 0.99
R6435:1700020D05Rik UTSW 19 5503418 missense probably benign 0.06
R6476:1700020D05Rik UTSW 19 5503225 missense probably damaging 1.00
R6764:1700020D05Rik UTSW 19 5502872 missense probably damaging 1.00
R7102:1700020D05Rik UTSW 19 5503595 missense probably benign 0.00
R7232:1700020D05Rik UTSW 19 5503631 missense possibly damaging 0.87
R7541:1700020D05Rik UTSW 19 5503411 missense probably benign 0.40
R7640:1700020D05Rik UTSW 19 5503007 missense probably damaging 1.00
R9459:1700020D05Rik UTSW 19 5503729 missense probably benign
Posted On 2016-08-02