Incidental Mutation 'R7595:4930516K23Rik'
ID 587672
Institutional Source Beutler Lab
Gene Symbol 4930516K23Rik
Ensembl Gene ENSMUSG00000090219
Gene Name RIKEN cDNA 4930516K23 gene
Synonyms
MMRRC Submission 045640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7595 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103648007-103786612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103708470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 113 (E113G)
Ref Sequence ENSEMBL: ENSMUSP00000073707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
AlphaFold Q8VGY1
Predicted Effect probably damaging
Transcript: ENSMUST00000074064
AA Change: E113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: E113G

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.6e-124 PFAM
Pfam:7TM_GPCR_Srsx 37 255 3.1e-7 PFAM
Pfam:7tm_1 43 294 3.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217217
AA Change: E113G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,878,234 (GRCm39) F1177S probably damaging Het
Alox12 T A 11: 70,133,230 (GRCm39) E658V probably damaging Het
Anxa6 C A 11: 54,875,911 (GRCm39) V591L probably benign Het
Atp6ap1l A T 13: 91,039,135 (GRCm39) S141T probably damaging Het
Bcar1 A C 8: 112,447,625 (GRCm39) N117K probably benign Het
Cdh22 A G 2: 164,954,383 (GRCm39) S713P probably benign Het
Cideb T C 14: 55,992,261 (GRCm39) D144G probably damaging Het
Coch T A 12: 51,645,016 (GRCm39) V190D probably damaging Het
Cyp4a12a C A 4: 115,189,089 (GRCm39) L473M probably damaging Het
Dennd1c A C 17: 57,378,633 (GRCm39) L331R probably damaging Het
Dthd1 A G 5: 62,976,058 (GRCm39) D244G probably benign Het
Dytn T C 1: 63,698,161 (GRCm39) E282G probably damaging Het
Eml4 A G 17: 83,763,513 (GRCm39) Q576R probably benign Het
Fa2h T A 8: 112,082,122 (GRCm39) I175F probably benign Het
Fv1 A G 4: 147,954,627 (GRCm39) T398A possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm5592 A G 7: 40,935,867 (GRCm39) D123G probably damaging Het
Golph3l A G 3: 95,517,094 (GRCm39) T201A probably benign Het
Ikbip A G 10: 90,932,447 (GRCm39) S364G probably benign Het
Kcnc3 G A 7: 44,240,893 (GRCm39) R195H probably damaging Het
Kdm5b T A 1: 134,536,704 (GRCm39) D641E probably benign Het
Kif26a C T 12: 112,145,759 (GRCm39) P1757S probably benign Het
Klf14 T C 6: 30,935,475 (GRCm39) K53R probably benign Het
Klk1b4 A G 7: 43,860,132 (GRCm39) D82G probably benign Het
Ly75 A G 2: 60,124,171 (GRCm39) F1702S probably benign Het
Mfsd4b1 A T 10: 39,879,221 (GRCm39) Y225* probably null Het
Or8g20 A C 9: 39,395,611 (GRCm39) F313V probably benign Het
Pcsk4 T A 10: 80,157,935 (GRCm39) D601V possibly damaging Het
Pkhd1l1 T A 15: 44,358,917 (GRCm39) D375E probably damaging Het
Primpol A G 8: 47,063,650 (GRCm39) L2S probably benign Het
Ralgapb G A 2: 158,268,085 (GRCm39) V63I possibly damaging Het
Rptor T A 11: 119,634,779 (GRCm39) N198K possibly damaging Het
Samd5 T C 10: 9,504,738 (GRCm39) N172S probably benign Het
Sorbs1 A T 19: 40,303,097 (GRCm39) H542Q probably damaging Het
Spopfm1 A G 3: 94,173,985 (GRCm39) E327G probably benign Het
Spopfm3 A G 3: 94,105,724 (GRCm39) D14G probably benign Het
Srgn T A 10: 62,343,785 (GRCm39) probably benign Het
Taar6 C T 10: 23,860,968 (GRCm39) V193I probably benign Het
Tmem132a G A 19: 10,835,569 (GRCm39) A987V probably damaging Het
Trank1 T C 9: 111,195,059 (GRCm39) Y1028H probably damaging Het
Ttc21a T C 9: 119,787,135 (GRCm39) L714P probably benign Het
Wdfy4 C T 14: 32,696,111 (GRCm39) probably null Het
Zswim9 T C 7: 12,994,998 (GRCm39) D386G probably benign Het
Zwilch A G 9: 64,056,546 (GRCm39) probably benign Het
Other mutations in 4930516K23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6967:4930516K23Rik UTSW 7 103,708,212 (GRCm39) missense probably benign 0.00
R7143:4930516K23Rik UTSW 7 103,708,422 (GRCm39) missense probably damaging 1.00
R7539:4930516K23Rik UTSW 7 103,708,470 (GRCm39) missense probably damaging 1.00
R7540:4930516K23Rik UTSW 7 103,708,470 (GRCm39) missense probably damaging 1.00
R7578:4930516K23Rik UTSW 7 103,708,104 (GRCm39) missense probably benign 0.08
R7594:4930516K23Rik UTSW 7 103,708,470 (GRCm39) missense probably damaging 1.00
R8921:4930516K23Rik UTSW 7 103,708,083 (GRCm39) missense probably damaging 1.00
Z1176:4930516K23Rik UTSW 7 103,708,495 (GRCm39) missense probably damaging 1.00
Z1177:4930516K23Rik UTSW 7 103,708,625 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGAATCATGTCTGGATGCAG -3'
(R):5'- GAGTCTTCACCAACCCATGTAC -3'

Sequencing Primer
(F):5'- CATGGGAAAGCACATTAGCCTTGC -3'
(R):5'- ACCAACCCATGTACTATTTCCTG -3'
Posted On 2019-10-24