Incidental Mutation 'R6967:4930516K23Rik'
ID 542052
Institutional Source Beutler Lab
Gene Symbol 4930516K23Rik
Ensembl Gene ENSMUSG00000090219
Gene Name RIKEN cDNA 4930516K23 gene
Synonyms
MMRRC Submission 045077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6967 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103648007-103786612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103708212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 199 (I199T)
Ref Sequence ENSEMBL: ENSMUSP00000150133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]
AlphaFold Q8VGY1
Predicted Effect probably benign
Transcript: ENSMUST00000074064
AA Change: I199T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: I199T

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 benign
Transcript: ENSMUST00000217217
AA Change: I199T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T G 1: 63,602,495 (GRCm39) probably null Het
Adamts8 C T 9: 30,865,787 (GRCm39) T445I probably benign Het
Ahi1 T C 10: 20,864,524 (GRCm39) V752A probably damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Bicra T C 7: 15,706,130 (GRCm39) E1437G probably damaging Het
Cdc42ep4 C T 11: 113,619,998 (GRCm39) S131N possibly damaging Het
Ces1f G A 8: 93,994,625 (GRCm39) P262L probably benign Het
Chrna2 A T 14: 66,388,398 (GRCm39) probably null Het
Cspg4 G A 9: 56,797,420 (GRCm39) V1295M possibly damaging Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dach1 A T 14: 98,140,633 (GRCm39) S456R probably damaging Het
Dhx37 T C 5: 125,499,231 (GRCm39) D659G probably benign Het
Dscaml1 T C 9: 45,585,821 (GRCm39) V586A probably damaging Het
Efhb G T 17: 53,770,196 (GRCm39) L38I probably benign Het
Fbxw10 T C 11: 62,738,429 (GRCm39) S108P possibly damaging Het
Fmnl2 A G 2: 52,987,344 (GRCm39) N313S possibly damaging Het
Gga3 T C 11: 115,482,102 (GRCm39) E172G probably damaging Het
Ggta1 A G 2: 35,292,734 (GRCm39) V191A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hcn4 C T 9: 58,731,228 (GRCm39) T145M unknown Het
Kirrel3 T C 9: 34,946,202 (GRCm39) S654P probably damaging Het
Klrb1 A T 6: 128,687,486 (GRCm39) probably null Het
Krt15 T A 11: 100,025,339 (GRCm39) D166V probably damaging Het
Lipk T A 19: 34,017,794 (GRCm39) Y277* probably null Het
Ly6g A C 15: 75,030,398 (GRCm39) N49T possibly damaging Het
Ms4a4c A T 19: 11,392,191 (GRCm39) Q4L probably benign Het
Nfya A C 17: 48,699,932 (GRCm39) probably benign Het
Nub1 T C 5: 24,913,709 (GRCm39) V530A probably benign Het
Ocln A T 13: 100,675,796 (GRCm39) Y232* probably null Het
Or10ag59 A G 2: 87,405,857 (GRCm39) N143S possibly damaging Het
Or2r2 A G 6: 42,463,947 (GRCm39) F60S probably damaging Het
Or4d2b C T 11: 87,780,324 (GRCm39) V133I probably benign Het
Or5b114-ps1 A G 19: 13,352,815 (GRCm39) H163R unknown Het
Otogl G A 10: 107,649,911 (GRCm39) A1148V probably benign Het
Paqr5 C T 9: 61,880,113 (GRCm39) W46* probably null Het
Psd2 C A 18: 36,113,385 (GRCm39) L286M probably damaging Het
Ptpn4 A T 1: 119,612,311 (GRCm39) Y27* probably null Het
Ripk2 A G 4: 16,158,275 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sbk2 C T 7: 4,967,146 (GRCm39) probably null Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sspo A C 6: 48,466,728 (GRCm39) D4072A probably benign Het
St6galnac3 T C 3: 152,912,345 (GRCm39) Y214C probably damaging Het
Sugp1 T A 8: 70,513,202 (GRCm39) D256E possibly damaging Het
Sugt1 A G 14: 79,834,847 (GRCm39) Y90C probably benign Het
Taok2 A G 7: 126,469,564 (GRCm39) I1088T probably damaging Het
Tasor2 A T 13: 3,624,819 (GRCm39) D1710E probably benign Het
Tmc7 T A 7: 118,146,901 (GRCm39) T459S probably benign Het
Tmed11 T C 5: 108,926,780 (GRCm39) Y164C probably damaging Het
Tmem275 A G 4: 115,755,491 (GRCm39) T97A unknown Het
Tmem63b T C 17: 45,977,558 (GRCm39) E356G probably benign Het
Ttc13 T C 8: 125,415,357 (GRCm39) I261V probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn1r73 A T 7: 11,490,544 (GRCm39) K121* probably null Het
Zc3h12d A T 10: 7,715,644 (GRCm39) S16C probably damaging Het
Zfp292 A T 4: 34,807,812 (GRCm39) M1744K probably damaging Het
Other mutations in 4930516K23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- ATGGACACACCTACCATGGG -3'
(R):5'- AATCTGTAACCCACTGCACTATTC -3'

Sequencing Primer
(F):5'- GGACATAGAAAATGAGCACAGCACAC -3'
(R):5'- CTCACTGATGCCCGTGTGATG -3'
Posted On 2018-11-28