Incidental Mutation 'PIT4576001:5730596B20Rik'
ID 556371
Institutional Source Beutler Lab
Gene Symbol 5730596B20Rik
Ensembl Gene ENSMUSG00000056468
Gene Name RIKEN cDNA 5730596B20 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # PIT4576001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 52154135-52157831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52156449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 172 (V172F)
Ref Sequence ENSEMBL: ENSMUSP00000069583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070587] [ENSMUST00000114434] [ENSMUST00000128102] [ENSMUST00000134831]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000070587
AA Change: V172F
SMART Domains Protein: ENSMUSP00000069583
Gene: ENSMUSG00000056468
AA Change: V172F

DomainStartEndE-ValueType
low complexity region 64 79 N/A INTRINSIC
low complexity region 96 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114434
SMART Domains Protein: ENSMUSP00000110077
Gene: ENSMUSG00000079560

DomainStartEndE-ValueType
low complexity region 76 131 N/A INTRINSIC
HOX 192 254 3.35e-28 SMART
low complexity region 287 302 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Pfam:DUF4074 377 441 9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128102
Predicted Effect probably benign
Transcript: ENSMUST00000134831
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 72.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,929,983 (GRCm39) S73P probably damaging Het
Brms1 A G 19: 5,096,229 (GRCm39) K69E probably damaging Het
Calr4 A C 4: 109,093,053 (GRCm39) Q44H possibly damaging Het
Dnmt1 G A 9: 20,823,071 (GRCm39) T1242I probably benign Het
Dyrk3 A G 1: 131,057,918 (GRCm39) V85A probably damaging Het
Eif2a T C 3: 58,452,974 (GRCm39) Y250H probably damaging Het
Esco1 T C 18: 10,572,093 (GRCm39) E749G probably damaging Het
Fat1 A G 8: 45,477,682 (GRCm39) I2243V probably damaging Het
Gh A T 11: 106,191,659 (GRCm39) F128I possibly damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gtpbp4 A G 13: 9,041,763 (GRCm39) Y150H probably damaging Het
H2ac15 C A 13: 21,937,781 (GRCm39) D73Y probably damaging Het
Itga8 A G 2: 12,234,903 (GRCm39) S452P probably benign Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Macf1 T C 4: 123,367,114 (GRCm39) E2549G probably benign Het
Mindy1 C T 3: 95,195,380 (GRCm39) A41V probably benign Het
Mypn T A 10: 62,955,850 (GRCm39) K1201M probably damaging Het
Ncor1 A G 11: 62,224,543 (GRCm39) S906P probably damaging Het
Npy1r T C 8: 67,156,874 (GRCm39) V98A probably benign Het
Pate2 A G 9: 35,581,889 (GRCm39) Y61C probably damaging Het
Pfdn2 A G 1: 171,173,310 (GRCm39) S11G unknown Het
Prdm1 T C 10: 44,334,504 (GRCm39) M1V probably null Het
Prelp A G 1: 133,842,903 (GRCm39) S81P possibly damaging Het
Prss12 T C 3: 123,280,764 (GRCm39) V483A probably damaging Het
Prss43 G C 9: 110,656,955 (GRCm39) V154L probably damaging Het
Ptpru G A 4: 131,529,855 (GRCm39) R618* probably null Het
Rpa1 A G 11: 75,203,984 (GRCm39) S288P probably damaging Het
Semp2l1 T C 1: 32,585,553 (GRCm39) E119G probably damaging Het
Siglec1 A G 2: 130,920,081 (GRCm39) F817L probably damaging Het
Skint6 T A 4: 112,910,564 (GRCm39) S545C possibly damaging Het
Slit1 A T 19: 41,612,988 (GRCm39) V844D possibly damaging Het
Suclg2 G T 6: 95,563,999 (GRCm39) D195E possibly damaging Het
Tln1 G T 4: 43,539,998 (GRCm39) A1537D probably damaging Het
Trpv2 A G 11: 62,472,027 (GRCm39) D73G probably damaging Het
Ucp3 T C 7: 100,129,458 (GRCm39) S98P probably benign Het
Usp19 T A 9: 108,369,931 (GRCm39) probably null Het
Vmn2r112 T C 17: 22,833,912 (GRCm39) F527L probably benign Het
Vmn2r93 T C 17: 18,533,473 (GRCm39) V459A probably benign Het
Other mutations in 5730596B20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0279:5730596B20Rik UTSW 6 52,156,182 (GRCm39) intron probably benign
R1344:5730596B20Rik UTSW 6 52,156,131 (GRCm39) intron probably benign
R1418:5730596B20Rik UTSW 6 52,156,131 (GRCm39) intron probably benign
R2073:5730596B20Rik UTSW 6 52,155,962 (GRCm39) nonsense probably null
R3054:5730596B20Rik UTSW 6 52,156,108 (GRCm39) intron probably benign
R3055:5730596B20Rik UTSW 6 52,156,108 (GRCm39) intron probably benign
R4235:5730596B20Rik UTSW 6 52,155,941 (GRCm39) intron probably benign
R4369:5730596B20Rik UTSW 6 52,156,042 (GRCm39) intron probably benign
R6057:5730596B20Rik UTSW 6 52,156,500 (GRCm39) intron probably benign
R7082:5730596B20Rik UTSW 6 52,156,260 (GRCm39) missense unknown
R7476:5730596B20Rik UTSW 6 52,156,014 (GRCm39) missense unknown
R7819:5730596B20Rik UTSW 6 52,156,254 (GRCm39) intron probably benign
R8247:5730596B20Rik UTSW 6 52,155,942 (GRCm39) missense unknown
R9080:5730596B20Rik UTSW 6 52,155,973 (GRCm39) missense unknown
R9112:5730596B20Rik UTSW 6 52,156,413 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCAGCACTGAACAAAGTGGC -3'
(R):5'- ATTCCCTGGAAAGTATTGTGGGATG -3'

Sequencing Primer
(F):5'- CTGGAAGCATCATCAGTAAAATGGC -3'
(R):5'- CTACAAGATGGGCCTAGTAGTCTC -3'
Posted On 2019-06-07