Incidental Mutation 'R0730:G530012D18Rik'
ID 67434
Institutional Source Beutler Lab
Gene Symbol G530012D18Rik
Ensembl Gene ENSMUSG00000094127
Gene Name RIKEN cDNA G530012D1 gene
Synonyms
MMRRC Submission 038911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0730 (G1)
Quality Score 92
Status Not validated
Chromosome 1
Chromosomal Location 85503397-85505016 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to C at 85504757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]
AlphaFold J3QK25
PDB Structure Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000093508
SMART Domains Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034

DomainStartEndE-ValueType
Pfam:Sp100 8 106 2.3e-41 PFAM
low complexity region 242 254 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
SAND 360 433 3.55e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131950
Predicted Effect unknown
Transcript: ENSMUST00000178024
AA Change: H54P
SMART Domains Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127
AA Change: H54P

DomainStartEndE-ValueType
low complexity region 1 10 N/A INTRINSIC
low complexity region 82 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186740
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Cfap57 T C 4: 118,470,117 (GRCm39) probably null Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly damaging Het
Other mutations in G530012D18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB001:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB003:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB005:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB006:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB011:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB013:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB015:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
BB016:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
FR4340:G530012D18Rik UTSW 1 85,504,873 (GRCm39) small deletion probably benign
FR4449:G530012D18Rik UTSW 1 85,504,901 (GRCm39) small deletion probably benign
FR4737:G530012D18Rik UTSW 1 85,504,899 (GRCm39) frame shift probably null
IGL03050:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
PIT4142001:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R0707:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R0819:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1053:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1155:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1236:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1245:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1880:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R1961:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2033:G530012D18Rik UTSW 1 85,504,875 (GRCm39) frame shift probably null
R2055:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2510:G530012D18Rik UTSW 1 85,504,925 (GRCm39) utr 3 prime probably benign
R2903:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R2989:G530012D18Rik UTSW 1 85,504,937 (GRCm39) frame shift probably null
R3000:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3757:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R3914:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
R4358:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4407:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R4417:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R5086:G530012D18Rik UTSW 1 85,504,941 (GRCm39) utr 3 prime probably benign
R5389:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7212:G530012D18Rik UTSW 1 85,504,864 (GRCm39) missense unknown
R7823:G530012D18Rik UTSW 1 85,504,923 (GRCm39) utr 3 prime probably benign
R7924:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7926:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7927:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7928:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R7929:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8162:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8163:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8164:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8263:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8264:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8265:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8491:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8492:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8524:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8742:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
R8744:G530012D18Rik UTSW 1 85,504,935 (GRCm39) missense unknown
X0023:G530012D18Rik UTSW 1 85,504,945 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GTGTGTGGCATTGAACAACACTTGG -3'
(R):5'- GGTTTTACCTGGAGAGGATGAACGG -3'

Sequencing Primer
(F):5'- TGAACAACACTTGGTCTCATGC -3'
(R):5'- tctgtctctgtctctctgtctc -3'
Posted On 2013-09-03