Incidental Mutation 'R5690:4930533K18Rik'
ID 443635
Institutional Source Beutler Lab
Gene Symbol 4930533K18Rik
Ensembl Gene ENSMUSG00000047692
Gene Name RIKEN cDNA 4930533K18 gene
Synonyms
MMRRC Submission 043323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R5690 (G1)
Quality Score 213
Status Not validated
Chromosome 10
Chromosomal Location 70704471-70770070 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 70759144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014473] [ENSMUST00000131445] [ENSMUST00000143791]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000014473
SMART Domains Protein: ENSMUSP00000014473
Gene: ENSMUSG00000014329

DomainStartEndE-ValueType
KH 47 129 2.69e0 SMART
KH 133 206 6.24e-18 SMART
KH 285 355 1.25e-8 SMART
low complexity region 384 402 N/A INTRINSIC
low complexity region 447 467 N/A INTRINSIC
low complexity region 480 499 N/A INTRINSIC
low complexity region 700 718 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
low complexity region 794 815 N/A INTRINSIC
SAM 872 938 2.04e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000058942
Predicted Effect probably benign
Transcript: ENSMUST00000131445
SMART Domains Protein: ENSMUSP00000119137
Gene: ENSMUSG00000014329

DomainStartEndE-ValueType
SCOP:d1dtja_ 1 46 1e-2 SMART
Blast:KH 1 47 1e-22 BLAST
KH 51 124 6.24e-18 SMART
KH 203 273 1.25e-8 SMART
low complexity region 302 320 N/A INTRINSIC
low complexity region 365 385 N/A INTRINSIC
low complexity region 398 417 N/A INTRINSIC
low complexity region 618 636 N/A INTRINSIC
low complexity region 654 665 N/A INTRINSIC
low complexity region 712 733 N/A INTRINSIC
SAM 790 856 2.04e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143791
SMART Domains Protein: ENSMUSP00000123201
Gene: ENSMUSG00000014329

DomainStartEndE-ValueType
KH 47 129 2.69e0 SMART
KH 133 206 6.24e-18 SMART
KH 285 355 1.25e-8 SMART
low complexity region 384 402 N/A INTRINSIC
low complexity region 447 467 N/A INTRINSIC
low complexity region 480 499 N/A INTRINSIC
low complexity region 700 718 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
low complexity region 794 815 N/A INTRINSIC
SAM 872 938 4.26e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218757
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,892,445 (GRCm39) Y126C probably damaging Het
Ak6 A G 13: 100,792,129 (GRCm39) probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,066,233 (GRCm39) probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp6v1e1 A T 6: 120,785,317 (GRCm39) probably null Het
Axin1 A G 17: 26,413,911 (GRCm39) Y792C probably damaging Het
C1s2 T C 6: 124,607,996 (GRCm39) N233S probably benign Het
Ccer2 C A 7: 28,455,629 (GRCm39) probably benign Het
Cfap46 A G 7: 139,218,269 (GRCm39) S1481P probably benign Het
Cspg4 A T 9: 56,806,019 (GRCm39) T2277S probably benign Het
Ctsl T A 13: 64,513,022 (GRCm39) N300I probably damaging Het
Dnah2 T C 11: 69,382,370 (GRCm39) I1247V probably benign Het
Dsg3 A T 18: 20,655,108 (GRCm39) Q135L probably benign Het
Efcab14 G A 4: 115,617,244 (GRCm39) V318M possibly damaging Het
Etl4 G A 2: 20,810,647 (GRCm39) S910N probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frmd4b T C 6: 97,330,164 (GRCm39) E133G possibly damaging Het
Herc2 T C 7: 55,807,453 (GRCm39) F2514S probably benign Het
Il18rap A G 1: 40,576,272 (GRCm39) D261G possibly damaging Het
Klk1b16 A G 7: 43,790,318 (GRCm39) probably null Het
Lrp1b A C 2: 40,640,906 (GRCm39) probably null Het
Mrpl45 C A 11: 97,212,412 (GRCm39) probably benign Het
Myh13 A G 11: 67,220,101 (GRCm39) E150G probably damaging Het
Nbas T A 12: 13,386,285 (GRCm39) V737D probably damaging Het
Ncr1 T C 7: 4,341,296 (GRCm39) Y59H probably damaging Het
Nt5c1a T A 4: 123,109,732 (GRCm39) V277E probably damaging Het
Ogfod1 T A 8: 94,784,769 (GRCm39) S343T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pnpla1 A T 17: 29,097,346 (GRCm39) I171F probably damaging Het
Rab5if G A 2: 156,707,234 (GRCm39) V58I probably benign Het
Rdh8 A G 9: 20,736,785 (GRCm39) N259S probably damaging Het
Resf1 T C 6: 149,229,735 (GRCm39) L927S possibly damaging Het
Slc22a12 A G 19: 6,586,878 (GRCm39) M496T probably benign Het
Slc8b1 G A 5: 120,651,270 (GRCm39) W10* probably null Het
Smarcc2 G A 10: 128,320,276 (GRCm39) G887S probably damaging Het
Smc1b A G 15: 84,996,974 (GRCm39) S549P probably damaging Het
Synj2 A G 17: 6,085,802 (GRCm39) M1181V probably benign Het
Tbx15 T C 3: 99,216,166 (GRCm39) S76P probably damaging Het
Tbx2 A T 11: 85,727,879 (GRCm39) I271F probably damaging Het
Thap4 A G 1: 93,644,352 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,306 (GRCm39) Y333C probably damaging Het
Trcg1 C T 9: 57,149,094 (GRCm39) P222L probably benign Het
Tubb3 T C 8: 124,148,045 (GRCm39) V326A probably benign Het
Unc80 A C 1: 66,679,731 (GRCm39) I2101L probably benign Het
Vmn1r19 T C 6: 57,381,780 (GRCm39) L111S probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Xpo4 T C 14: 57,828,446 (GRCm39) I805V probably benign Het
Other mutations in 4930533K18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:4930533K18Rik APN 10 70,711,138 (GRCm39) unclassified noncoding transcript
IGL01538:4930533K18Rik APN 10 70,708,032 (GRCm39) unclassified noncoding transcript
IGL02173:4930533K18Rik APN 10 70,708,060 (GRCm39) unclassified noncoding transcript
R0656:4930533K18Rik UTSW 10 70,704,630 (GRCm39) unclassified noncoding transcript
R1776:4930533K18Rik UTSW 10 70,711,058 (GRCm39) unclassified noncoding transcript
R1824:4930533K18Rik UTSW 10 70,708,086 (GRCm39) unclassified noncoding transcript
R8314:4930533K18Rik UTSW 10 70,711,106 (GRCm39) missense noncoding transcript
X0024:4930533K18Rik UTSW 10 70,707,996 (GRCm39) unclassified noncoding transcript
Predicted Primers PCR Primer
(F):5'- ATATTCCGTGCATGGCAAAGAAC -3'
(R):5'- TTGGCATCAAGCTCAGCCTG -3'

Sequencing Primer
(F):5'- TCCCTTTGCTACATCAAGAGAAAGGG -3'
(R):5'- CCTGACCGCATAAGGATACAGAATTG -3'
Posted On 2016-11-09