Incidental Mutation 'R4234:4930567H17Rik'
ID 321039
Institutional Source Beutler Lab
Gene Symbol 4930567H17Rik
Ensembl Gene ENSMUSG00000073141
Gene Name RIKEN cDNA 4930567H17 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R4234 (G1)
Quality Score 102
Status Not validated
Chromosome X
Chromosomal Location 69437507-69438346 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69438135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 53 (A53T)
Ref Sequence ENSEMBL: ENSMUSP00000090060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000092405
AA Change: A53T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000090060
Gene: ENSMUSG00000073141
AA Change: A53T

DomainStartEndE-ValueType
SCOP:d1sig__ 115 223 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193512
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Ap3s1 A T 18: 46,912,267 (GRCm39) T96S probably benign Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Aspg T A 12: 112,089,750 (GRCm39) Y429* probably null Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
BC034090 C T 1: 155,117,326 (GRCm39) G264D probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cerk T C 15: 86,026,989 (GRCm39) K174E probably benign Het
Col19a1 T C 1: 24,354,476 (GRCm39) probably null Het
Cyp2c23 G T 19: 44,017,604 (GRCm39) T8K unknown Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dok4 T C 8: 95,592,292 (GRCm39) E232G probably damaging Het
Dpf1 T C 7: 29,015,057 (GRCm39) S304P probably damaging Het
Dpyd T A 3: 119,225,233 (GRCm39) I1002N probably damaging Het
Fam107b T C 2: 3,771,777 (GRCm39) S3P possibly damaging Het
Gm1527 G A 3: 28,968,515 (GRCm39) G189D probably damaging Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Lix1l T A 3: 96,530,973 (GRCm39) probably null Het
Mdc1 T C 17: 36,159,716 (GRCm39) C658R probably benign Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh15 G T 16: 48,983,405 (GRCm39) V1507L probably benign Het
Nfe2l1 T C 11: 96,710,735 (GRCm39) D210G probably damaging Het
Notch3 T A 17: 32,360,315 (GRCm39) I1539F probably damaging Het
Pcdhac1 A C 18: 37,224,011 (GRCm39) S275R probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rbbp5 A G 1: 132,412,496 (GRCm39) T20A probably benign Het
Rere T C 4: 150,701,862 (GRCm39) V1414A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr3 G T 2: 112,740,752 (GRCm39) N538K probably damaging Het
Serpina3j C A 12: 104,281,445 (GRCm39) T206K probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc27a5 C A 7: 12,722,370 (GRCm39) C416F probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tex30 A T 1: 44,130,672 (GRCm39) I32K possibly damaging Het
Trpc2 T C 7: 101,737,342 (GRCm39) I752T possibly damaging Het
Wnk2 A G 13: 49,214,604 (GRCm39) V1314A probably benign Het
Other mutations in 4930567H17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0737:4930567H17Rik UTSW X 69,437,813 (GRCm39) unclassified probably benign
R2257:4930567H17Rik UTSW X 69,438,012 (GRCm39) missense probably damaging 1.00
R3919:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R3939:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R3940:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R4231:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R4232:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R4235:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R4236:4930567H17Rik UTSW X 69,438,135 (GRCm39) missense probably benign 0.07
R8139:4930567H17Rik UTSW X 69,438,120 (GRCm39) missense possibly damaging 0.89
R8890:4930567H17Rik UTSW X 69,437,994 (GRCm39) missense possibly damaging 0.71
R8895:4930567H17Rik UTSW X 69,437,994 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GGCAGCTTTCAGGATGTATCTG -3'
(R):5'- ACTACTGGTCGAACAACTGTC -3'

Sequencing Primer
(F):5'- CTGCATGGGTCGTATGAAGAC -3'
(R):5'- CTGTCTTAGAAAGTCAGGCAGTC -3'
Posted On 2015-06-12