Incidental Mutation 'R7540:4930516K23Rik'
ID 583839
Institutional Source Beutler Lab
Gene Symbol 4930516K23Rik
Ensembl Gene ENSMUSG00000090219
Gene Name RIKEN cDNA 4930516K23 gene
Synonyms
MMRRC Submission 045612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7540 (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: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 A G 9: 30,870,360 (GRCm39) E650G probably damaging Het
Adgrg7 G A 16: 56,570,792 (GRCm39) T412M probably damaging Het
Ank2 C T 3: 126,781,808 (GRCm39) V7I possibly damaging Het
Bpifb1 G A 2: 154,055,031 (GRCm39) V308M probably damaging Het
C3 A G 17: 57,513,220 (GRCm39) S1476P probably benign Het
Dgkb A T 12: 38,031,789 (GRCm39) probably benign Het
Fmn1 A G 2: 113,359,655 (GRCm39) probably null Het
Foxb1 G A 9: 69,667,141 (GRCm39) Q130* probably null Het
Gemin5 C T 11: 58,021,228 (GRCm39) probably null Het
Ghr T A 15: 3,349,396 (GRCm39) D594V possibly damaging Het
Gm10272 A C 10: 77,542,460 (GRCm39) M1L unknown Het
Gpr161 G A 1: 165,146,404 (GRCm39) V447M probably damaging Het
Hspg2 T A 4: 137,268,751 (GRCm39) S2157T possibly damaging Het
Irs1 A G 1: 82,265,723 (GRCm39) V831A not run Het
Itga8 T A 2: 12,115,848 (GRCm39) I1014L possibly damaging Het
Iws1 T A 18: 32,213,536 (GRCm39) S321R possibly damaging Het
Kctd19 G T 8: 106,113,567 (GRCm39) P702Q probably benign Het
Man2c1 G A 9: 57,047,559 (GRCm39) D739N probably damaging Het
Mboat4 T A 8: 34,591,178 (GRCm39) L205Q probably damaging Het
Meis3 C A 7: 15,911,418 (GRCm39) Y38* probably null Het
Mroh7 G T 4: 106,577,595 (GRCm39) T361K possibly damaging Het
Msantd5f2 C T 4: 73,586,648 (GRCm39) probably benign Het
Myl6b T A 10: 128,332,149 (GRCm39) K106* probably null Het
Naaa T A 5: 92,411,583 (GRCm39) T241S probably benign Het
Neurog3 T G 10: 61,969,756 (GRCm39) I172S probably benign Het
Nub1 T G 5: 24,906,527 (GRCm39) I351R probably damaging Het
Or2t47 C A 11: 58,442,457 (GRCm39) V203L possibly damaging Het
Or3a1c A T 11: 74,046,414 (GRCm39) R145W probably benign Het
Or6c207 A T 10: 129,105,003 (GRCm39) F63Y probably benign Het
Osbp2 T C 11: 3,667,944 (GRCm39) K18E probably damaging Het
Pcdh8 A T 14: 80,008,543 (GRCm39) W7R probably benign Het
Pcsk7 G T 9: 45,838,971 (GRCm39) probably null Het
Plin4 G A 17: 56,411,883 (GRCm39) T716I probably damaging Het
Prkcb G A 7: 122,167,357 (GRCm39) V356I probably damaging Het
Pus7 G A 5: 23,965,244 (GRCm39) T304I probably damaging Het
Rmnd1 A G 10: 4,353,989 (GRCm39) V402A probably damaging Het
Slmap T C 14: 26,181,346 (GRCm39) E329G probably damaging Het
Sytl3 T C 17: 6,949,346 (GRCm39) probably benign Het
Tg A G 15: 66,561,776 (GRCm39) I1087V probably benign Het
Tmco1 A G 1: 167,153,572 (GRCm39) T162A Het
Tti1 G A 2: 157,849,916 (GRCm39) T441I probably benign Het
Tubgcp6 G T 15: 88,986,526 (GRCm39) Q1366K possibly damaging Het
Ush1g T C 11: 115,209,399 (GRCm39) K265R probably benign Het
Zdhhc8 A G 16: 18,045,674 (GRCm39) V209A probably damaging Het
Zfp160 T A 17: 21,245,922 (GRCm39) Y157* probably null Het
Zfp423 A T 8: 88,414,695 (GRCm39) C1208S possibly damaging Het
Zfyve26 A T 12: 79,315,450 (GRCm39) V1342E probably damaging Het
Zmym1 A T 4: 126,942,550 (GRCm39) C613S 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
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
R7595:4930516K23Rik 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'- GCATGGGAAAGCACATTAGCC -3'
(R):5'- TGATCCTGTTCATCATCAAGGAG -3'

Sequencing Primer
(F):5'- GCACATTAGCCTTGCAGAAG -3'
(R):5'- TCCTGTTCATCATCAAGGAGGAAGAG -3'
Posted On 2019-10-17