Incidental Mutation 'R9528:6030452D12Rik'
ID 719343
Institutional Source Beutler Lab
Gene Symbol 6030452D12Rik
Ensembl Gene ENSMUSG00000054069
Gene Name RIKEN cDNA 6030452D12 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R9528 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 107227137-107236288 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107231129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 105 (D105V)
Ref Sequence ENSEMBL: ENSMUSP00000069776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066875]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000066875
AA Change: D105V
SMART Domains Protein: ENSMUSP00000069776
Gene: ENSMUSG00000054069
AA Change: D105V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 166 181 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T C 1: 60,473,453 (GRCm39) S57P probably damaging Het
Acap2 C A 16: 30,929,908 (GRCm39) K358N possibly damaging Het
Adgrd1 A G 5: 129,256,740 (GRCm39) Y703C probably benign Het
Alpi A G 1: 87,026,772 (GRCm39) probably null Het
Bpifb9b A G 2: 154,153,297 (GRCm39) E121G probably benign Het
Btnl1 T A 17: 34,603,352 (GRCm39) F338I possibly damaging Het
Clptm1l G A 13: 73,760,550 (GRCm39) S311N possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col6a3 T A 1: 90,731,789 (GRCm39) K1488M probably damaging Het
Crot A T 5: 9,043,575 (GRCm39) Y16N possibly damaging Het
Dnajc13 T C 9: 104,114,904 (GRCm39) S56G probably benign Het
Dpep3 C A 8: 106,704,251 (GRCm39) A230S probably benign Het
Gabrr2 T C 4: 33,081,483 (GRCm39) I173T probably benign Het
Klhl5 T C 5: 65,313,586 (GRCm39) probably null Het
Lekr1 T C 3: 65,591,608 (GRCm39) F115S unknown Het
Lipc A T 9: 70,841,841 (GRCm39) M1K probably null Het
Lrfn5 T A 12: 61,886,408 (GRCm39) N65K probably benign Het
Mmp17 G C 5: 129,683,392 (GRCm39) E509D probably benign Het
Myo1f T C 17: 33,797,156 (GRCm39) probably null Het
Or10h28 T A 17: 33,488,445 (GRCm39) V249E probably damaging Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or1o3 T A 17: 37,574,087 (GRCm39) H156L probably benign Het
Or7g32 A G 9: 19,389,444 (GRCm39) F34S probably damaging Het
Pclo G A 5: 14,727,691 (GRCm39) R2183Q unknown Het
Plec T A 15: 76,061,033 (GRCm39) H2968L possibly damaging Het
Ppp2r1a A G 17: 21,176,153 (GRCm39) E125G probably benign Het
Prkcd T C 14: 30,323,768 (GRCm39) D458G probably damaging Het
Ptch1 A C 13: 63,661,615 (GRCm39) N1174K probably benign Het
Sarnp A G 10: 128,708,326 (GRCm39) R180G probably damaging Het
Secisbp2 A G 13: 51,810,979 (GRCm39) K214E possibly damaging Het
Sorl1 C A 9: 41,933,631 (GRCm39) probably null Het
Speg T A 1: 75,364,447 (GRCm39) I276N possibly damaging Het
Txnrd3 A G 6: 89,649,954 (GRCm39) Y518C probably damaging Het
Unc13c T A 9: 73,837,960 (GRCm39) I964F possibly damaging Het
Wars2 A G 3: 99,111,922 (GRCm39) H140R possibly damaging Het
Zfp148 T A 16: 33,316,660 (GRCm39) I444N probably benign Het
Other mutations in 6030452D12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0399:6030452D12Rik UTSW 8 107,231,174 (GRCm39) missense unknown
R0452:6030452D12Rik UTSW 8 107,233,822 (GRCm39) unclassified probably benign
R4698:6030452D12Rik UTSW 8 107,230,979 (GRCm39) missense unknown
R7323:6030452D12Rik UTSW 8 107,227,411 (GRCm39) splice site probably null
R9184:6030452D12Rik UTSW 8 107,233,901 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGAATCCTGATCACTATGGTCTG -3'
(R):5'- ACTTGGGTTTGAATCAAGCTGT -3'

Sequencing Primer
(F):5'- AGGCTCAAGATCAGTCTGGTCTAC -3'
(R):5'- TCAAGCTGTGGAAGATGACTGC -3'
Posted On 2022-07-18