Incidental Mutation 'R5919:6030458C11Rik'
ID 462588
Institutional Source Beutler Lab
Gene Symbol 6030458C11Rik
Ensembl Gene ENSMUSG00000022195
Gene Name RIKEN cDNA 6030458C11 gene
Synonyms
MMRRC Submission 044116-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R5919 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 12808263-12824735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12823754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 40 (H40Q)
Ref Sequence ENSEMBL: ENSMUSP00000055656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057256] [ENSMUST00000090292] [ENSMUST00000169061] [ENSMUST00000227299] [ENSMUST00000228177]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057256
AA Change: H40Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055656
Gene: ENSMUSG00000022195
AA Change: H40Q

DomainStartEndE-ValueType
Pfam:UPF0489 19 256 7.2e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090292
SMART Domains Protein: ENSMUSP00000087762
Gene: ENSMUSG00000022191

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
low complexity region 43 69 N/A INTRINSIC
low complexity region 72 102 N/A INTRINSIC
low complexity region 109 137 N/A INTRINSIC
low complexity region 142 169 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 227 269 N/A INTRINSIC
low complexity region 273 301 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
low complexity region 387 410 N/A INTRINSIC
low complexity region 472 499 N/A INTRINSIC
SCOP:d1jfza_ 878 902 4e-4 SMART
RIBOc 942 1076 1.73e-45 SMART
Blast:RIBOc 1086 1112 1e-6 BLAST
RIBOc 1121 1253 1.6e-49 SMART
DSRM 1260 1332 5.75e-20 SMART
coiled coil region 1346 1370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156594
Predicted Effect probably benign
Transcript: ENSMUST00000169061
SMART Domains Protein: ENSMUSP00000129279
Gene: ENSMUSG00000022191

DomainStartEndE-ValueType
low complexity region 13 32 N/A INTRINSIC
low complexity region 43 69 N/A INTRINSIC
low complexity region 72 102 N/A INTRINSIC
low complexity region 109 137 N/A INTRINSIC
low complexity region 142 169 N/A INTRINSIC
low complexity region 185 200 N/A INTRINSIC
low complexity region 227 269 N/A INTRINSIC
low complexity region 273 301 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
low complexity region 387 410 N/A INTRINSIC
low complexity region 472 499 N/A INTRINSIC
SCOP:d1jfza_ 878 902 4e-4 SMART
RIBOc 942 1076 1.73e-45 SMART
Blast:RIBOc 1086 1112 1e-6 BLAST
RIBOc 1121 1253 1.6e-49 SMART
DSRM 1260 1332 5.75e-20 SMART
coiled coil region 1346 1370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227299
Predicted Effect probably benign
Transcript: ENSMUST00000228177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228888
Meta Mutation Damage Score 0.7379 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T C 1: 151,791,249 (GRCm39) D104G probably damaging Het
Abcc3 A G 11: 94,248,132 (GRCm39) V1156A possibly damaging Het
Adgrl1 G T 8: 84,659,239 (GRCm39) D648Y probably damaging Het
Adgrl3 C A 5: 81,794,417 (GRCm39) D547E probably benign Het
Aebp1 A T 11: 5,821,421 (GRCm39) M607L probably benign Het
Angptl1 T C 1: 156,686,116 (GRCm39) Y401H probably damaging Het
Arl4d A G 11: 101,557,962 (GRCm39) T163A probably benign Het
Bltp2 A T 11: 78,180,176 (GRCm39) N2152I probably damaging Het
Camk2b A G 11: 5,929,718 (GRCm39) S331P probably damaging Het
Ccdc15 C T 9: 37,231,692 (GRCm39) probably null Het
Ccdc168 T C 1: 44,096,146 (GRCm39) N1651D probably benign Het
Ccdc38 A T 10: 93,414,700 (GRCm39) I370F possibly damaging Het
Clstn1 A T 4: 149,719,703 (GRCm39) H416L probably damaging Het
Col12a1 C T 9: 79,509,580 (GRCm39) R3030H probably damaging Het
Cop1 T A 1: 159,147,294 (GRCm39) V540E probably damaging Het
Crebbp C T 16: 3,925,991 (GRCm39) R710H probably damaging Het
Dsel T C 1: 111,787,983 (GRCm39) I851V probably benign Het
Esrp1 A G 4: 11,344,146 (GRCm39) V642A probably damaging Het
Fanci T C 7: 79,094,486 (GRCm39) L1139P probably damaging Het
Fat1 T C 8: 45,479,910 (GRCm39) probably null Het
Fsip2 A G 2: 82,822,953 (GRCm39) N6229D possibly damaging Het
Garin5b T C 7: 4,773,385 (GRCm39) E144G possibly damaging Het
Gas2l3 G A 10: 89,252,917 (GRCm39) R243W probably damaging Het
Hectd1 G A 12: 51,815,855 (GRCm39) R1406W probably damaging Het
Hecw2 T C 1: 53,976,249 (GRCm39) H180R probably damaging Het
Ift172 T A 5: 31,418,006 (GRCm39) Q1261L possibly damaging Het
Il17rd T C 14: 26,818,001 (GRCm39) V230A probably damaging Het
Kif17 A T 4: 137,997,202 (GRCm39) I42F probably damaging Het
Kif24 T C 4: 41,394,477 (GRCm39) K799E possibly damaging Het
Lrp4 A T 2: 91,303,552 (GRCm39) I84F probably damaging Het
Mplkipl1 T C 19: 61,163,907 (GRCm39) Y176C probably damaging Het
Mroh7 T C 4: 106,551,509 (GRCm39) probably null Het
Ms4a14 C A 19: 11,291,661 (GRCm39) V13F possibly damaging Het
Muc2 T A 7: 141,281,171 (GRCm39) V445D probably damaging Het
Muc6 A T 7: 141,227,837 (GRCm39) M1317K possibly damaging Het
Myof T A 19: 38,012,818 (GRCm39) D39V possibly damaging Het
Ndufaf1 A C 2: 119,490,709 (GRCm39) V117G possibly damaging Het
Ndufs1 C G 1: 63,182,991 (GRCm39) *728S probably null Het
Nup188 A T 2: 30,229,906 (GRCm39) N1375Y probably damaging Het
Oasl1 T A 5: 115,066,329 (GRCm39) I149N probably damaging Het
Or9i16 A G 19: 13,865,209 (GRCm39) Y122H probably damaging Het
Pelo C A 13: 115,225,845 (GRCm39) C204F possibly damaging Het
Phf11d A C 14: 59,593,712 (GRCm39) probably benign Het
Rars2 T C 4: 34,657,232 (GRCm39) L526P probably damaging Het
Rrp1 A G 10: 78,241,422 (GRCm39) L177P probably damaging Het
S100a9 A G 3: 90,602,495 (GRCm39) L33P probably damaging Het
Slc4a7 A G 14: 14,791,092 (GRCm38) D1045G probably benign Het
Slc9a3 C T 13: 74,306,859 (GRCm39) T328I probably damaging Het
Spata6 A G 4: 111,636,405 (GRCm39) D232G probably damaging Het
Taar6 A T 10: 23,861,168 (GRCm39) I126N probably damaging Het
Tmeff2 C A 1: 51,171,311 (GRCm39) C182* probably null Het
Tmem178 T A 17: 81,297,187 (GRCm39) C190S probably damaging Het
Trerf1 T G 17: 47,634,208 (GRCm39) noncoding transcript Het
Trgv6 A G 13: 19,374,782 (GRCm39) Y16C probably benign Het
Ubn2 A G 6: 38,468,423 (GRCm39) I1046V possibly damaging Het
Vmn1r221 A T 13: 23,401,466 (GRCm39) noncoding transcript Het
Vmn2r2 T C 3: 64,044,723 (GRCm39) N141S probably benign Het
Zfp64 T A 2: 168,768,419 (GRCm39) N398Y probably benign Het
Zfp787 T G 7: 6,135,834 (GRCm39) Q139P probably damaging Het
Other mutations in 6030458C11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:6030458C11Rik APN 15 12,815,958 (GRCm39) nonsense probably null
IGL02366:6030458C11Rik APN 15 12,810,859 (GRCm39) missense probably benign 0.40
IGL02660:6030458C11Rik APN 15 12,810,853 (GRCm39) missense probably damaging 1.00
R1869:6030458C11Rik UTSW 15 12,817,993 (GRCm39) missense probably damaging 1.00
R6853:6030458C11Rik UTSW 15 12,818,031 (GRCm39) missense probably benign
R6875:6030458C11Rik UTSW 15 12,812,154 (GRCm39) missense probably damaging 0.98
R8013:6030458C11Rik UTSW 15 12,824,615 (GRCm39) missense probably benign 0.15
R8014:6030458C11Rik UTSW 15 12,824,615 (GRCm39) missense probably benign 0.15
R8460:6030458C11Rik UTSW 15 12,818,545 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GCAAATGTGAGTGTAGCAAAATCTC -3'
(R):5'- AGTGGTTGGAGATTATCATCAGAAACC -3'

Sequencing Primer
(F):5'- GCAAAATCTCTTGTTTATCATCTGC -3'
(R):5'- ATGCACTTCAGGTTGGTG -3'
Posted On 2017-02-28