Incidental Mutation 'R1367:6030419C18Rik'
ID156081
Institutional Source Beutler Lab
Gene Symbol 6030419C18Rik
Ensembl Gene ENSMUSG00000066607
Gene NameRIKEN cDNA 6030419C18 gene
Synonyms
MMRRC Submission 039432-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R1367 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location58488603-58499780 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 58498980 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 58 (D58Y)
Ref Sequence ENSEMBL: ENSMUSP00000148914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085658] [ENSMUST00000216294]
Predicted Effect probably damaging
Transcript: ENSMUST00000085658
AA Change: D58Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082800
Gene: ENSMUSG00000066607
AA Change: D58Y

DomainStartEndE-ValueType
Pfam:DUF4589 52 279 2e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216294
AA Change: D58Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7906 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.2%
  • 20x: 86.6%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,443,386 V676A probably damaging Het
Acvr1b T C 15: 101,193,938 L33P possibly damaging Het
Adamts12 T G 15: 11,256,894 probably benign Het
Ank1 T A 8: 23,111,803 probably benign Het
Arhgef10 T A 8: 14,940,225 D233E probably damaging Het
Cd209e T C 8: 3,849,084 *209W probably null Het
Cebpz A G 17: 78,923,313 V825A probably benign Het
Cep170 A G 1: 176,735,724 F1575L probably damaging Het
Exoc2 A T 13: 30,882,273 Y473* probably null Het
F3 A G 3: 121,729,374 T78A probably damaging Het
Fanca G A 8: 123,304,281 probably benign Het
Gga2 G A 7: 121,998,915 R319* probably null Het
Gid8 A G 2: 180,713,232 I10M probably benign Het
Glrb A G 3: 80,862,004 W139R probably damaging Het
H2-M1 A G 17: 36,671,167 S181P probably benign Het
Hectd3 G T 4: 116,997,170 V310L probably null Het
Kif17 C A 4: 138,277,994 S290* probably null Het
Kif26b A G 1: 178,916,463 N1375D probably damaging Het
Lgr4 C G 2: 109,991,135 P121A probably damaging Het
Ly75 A G 2: 60,293,758 probably null Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Nek3 T C 8: 22,160,361 probably benign Het
Nin A T 12: 70,043,929 L904Q probably damaging Het
Nlrp14 A G 7: 107,182,811 D405G probably benign Het
Nuak1 C T 10: 84,392,328 probably benign Het
Olfr191 T A 16: 59,086,343 I47F probably benign Het
Plcg2 T A 8: 117,615,238 W1113R probably damaging Het
Pms2 G A 5: 143,925,913 V613M probably damaging Het
Prl3b1 G A 13: 27,243,865 A53T probably benign Het
Pxk T G 14: 8,150,915 probably null Het
Rasl10b G A 11: 83,417,839 probably null Het
Rbm28 A T 6: 29,137,640 I438N probably damaging Het
Rictor T C 15: 6,790,638 probably benign Het
Slc41a1 A G 1: 131,844,008 T387A probably benign Het
Slc44a2 T C 9: 21,343,026 V228A probably benign Het
Slpi A G 2: 164,354,867 probably benign Het
Tkfc A G 19: 10,593,474 S481P probably benign Het
Tll2 G A 19: 41,120,228 R328C probably damaging Het
Tns3 T C 11: 8,448,704 H1216R probably benign Het
Ugt2b38 A T 5: 87,424,114 S20T probably benign Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Usp48 T A 4: 137,644,463 S967T probably damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,359,988 probably benign Het
Zdhhc23 A G 16: 43,974,150 S54P probably benign Het
Other mutations in 6030419C18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03367:6030419C18Rik APN 9 58499098 missense probably damaging 1.00
R1234:6030419C18Rik UTSW 9 58499432 small deletion probably benign
R1385:6030419C18Rik UTSW 9 58499432 small deletion probably benign
R1615:6030419C18Rik UTSW 9 58499068 missense probably damaging 0.96
R1850:6030419C18Rik UTSW 9 58499109 missense probably benign
R2088:6030419C18Rik UTSW 9 58499005 missense probably damaging 1.00
R3943:6030419C18Rik UTSW 9 58499432 small deletion probably benign
R3955:6030419C18Rik UTSW 9 58499623 missense probably damaging 1.00
R4614:6030419C18Rik UTSW 9 58499432 small deletion probably benign
R6164:6030419C18Rik UTSW 9 58499247 missense probably damaging 0.96
R6622:6030419C18Rik UTSW 9 58499250 missense probably benign 0.00
R7561:6030419C18Rik UTSW 9 58499404 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGTACCTTTCAGAGTCAATGGGC -3'
(R):5'- AGCACTTTGTCACTGAACCGTACC -3'

Sequencing Primer
(F):5'- AGTGctctctctctctctctctc -3'
(R):5'- CCTCTTCACTGGAGGAGTCTG -3'
Posted On2014-02-11