Incidental Mutation 'R6777:2900092C05Rik'
ID 531335
Institutional Source Beutler Lab
Gene Symbol 2900092C05Rik
Ensembl Gene ENSMUSG00000030385
Gene Name RIKEN cDNA 2900092C05 gene
Synonyms
MMRRC Submission 044893-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6777 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 12246444-12290250 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12246756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 45 (L45F)
Ref Sequence ENSEMBL: ENSMUSP00000032541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032541]
AlphaFold Q5I0V9
Predicted Effect probably benign
Transcript: ENSMUST00000032541
AA Change: L45F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032541
Gene: ENSMUSG00000030385
AA Change: L45F

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T C 14: 68,762,784 (GRCm39) Y147C probably damaging Het
Adss2 A T 1: 177,603,902 (GRCm39) probably null Het
Atp2c1 T A 9: 105,295,799 (GRCm39) I812L possibly damaging Het
Capn2 A G 1: 182,297,742 (GRCm39) probably null Het
Crybg3 A G 16: 59,378,678 (GRCm39) probably benign Het
Cux1 C G 5: 136,594,422 (GRCm39) probably benign Het
Dkk2 T A 3: 131,879,572 (GRCm39) C84S probably damaging Het
Eml3 T C 19: 8,914,086 (GRCm39) V128A probably benign Het
Fzr1 A G 10: 81,206,327 (GRCm39) Y148H probably damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Ganc A G 2: 120,274,630 (GRCm39) T584A probably damaging Het
Gldc T C 19: 30,110,912 (GRCm39) T564A probably damaging Het
Gm49359 A T 13: 62,603,006 (GRCm39) C65S probably benign Het
Hspa12a A G 19: 58,810,519 (GRCm39) Y175H probably benign Het
Ly6g A G 15: 75,030,431 (GRCm39) D60G probably benign Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Pex1 T A 5: 3,672,358 (GRCm39) C694S probably benign Het
Pkd1l3 T C 8: 110,353,446 (GRCm39) F676L probably benign Het
Pla2g2c T C 4: 138,470,976 (GRCm39) V119A probably benign Het
Ralgps2 A G 1: 156,715,515 (GRCm39) probably null Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Serpina3c T C 12: 104,118,069 (GRCm39) K90E probably benign Het
Slc24a3 A G 2: 145,482,202 (GRCm39) Y620C probably damaging Het
Smg1 C A 7: 117,788,340 (GRCm39) probably benign Het
Srp68 A T 11: 116,153,730 (GRCm39) V198E probably damaging Het
Ssx2ip C T 3: 146,144,476 (GRCm39) T580M possibly damaging Het
Terf2 A G 8: 107,797,169 (GRCm39) V434A possibly damaging Het
Tmem242 G A 17: 5,483,830 (GRCm39) P71S probably damaging Het
Tmprss13 C T 9: 45,247,399 (GRCm39) R254* probably null Het
Trgv3 A G 13: 19,427,450 (GRCm39) Y111C probably damaging Het
Other mutations in 2900092C05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:2900092C05Rik APN 7 12,289,931 (GRCm39) splice site probably benign
IGL01744:2900092C05Rik APN 7 12,284,459 (GRCm39) missense possibly damaging 0.92
IGL03047:2900092C05Rik UTSW 7 12,246,568 (GRCm39) missense possibly damaging 0.92
R0001:2900092C05Rik UTSW 7 12,288,534 (GRCm39) splice site probably benign
R0607:2900092C05Rik UTSW 7 12,288,625 (GRCm39) missense probably benign 0.19
R0831:2900092C05Rik UTSW 7 12,284,523 (GRCm39) splice site probably benign
R1468:2900092C05Rik UTSW 7 12,246,507 (GRCm39) start codon destroyed probably null 0.83
R1468:2900092C05Rik UTSW 7 12,246,507 (GRCm39) start codon destroyed probably null 0.83
R1846:2900092C05Rik UTSW 7 12,246,809 (GRCm39) missense probably benign 0.38
R1852:2900092C05Rik UTSW 7 12,246,629 (GRCm39) splice site probably null
R1912:2900092C05Rik UTSW 7 12,288,582 (GRCm39) missense probably benign 0.01
R3442:2900092C05Rik UTSW 7 12,246,583 (GRCm39) nonsense probably null
R3694:2900092C05Rik UTSW 7 12,284,443 (GRCm39) missense possibly damaging 0.46
R3751:2900092C05Rik UTSW 7 12,289,973 (GRCm39) missense probably benign 0.02
R5977:2900092C05Rik UTSW 7 12,288,664 (GRCm39) missense probably benign 0.17
R6158:2900092C05Rik UTSW 7 12,246,599 (GRCm39) missense probably benign 0.37
R6931:2900092C05Rik UTSW 7 12,246,523 (GRCm39) missense unknown
R7284:2900092C05Rik UTSW 7 12,246,605 (GRCm39) nonsense probably null
R7406:2900092C05Rik UTSW 7 12,249,391 (GRCm39) missense possibly damaging 0.66
R8472:2900092C05Rik UTSW 7 12,246,568 (GRCm39) missense possibly damaging 0.92
R8802:2900092C05Rik UTSW 7 12,249,415 (GRCm39) missense possibly damaging 0.66
R8877:2900092C05Rik UTSW 7 12,288,704 (GRCm39) critical splice donor site probably null
R9175:2900092C05Rik UTSW 7 12,249,412 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAGATGAGCTTTATACTGTTGAG -3'
(R):5'- AGGCACATAGTACACTGAGGC -3'

Sequencing Primer
(F):5'- GAAAACAACAGACTTATCAGGTAGC -3'
(R):5'- CACATAGTACACTGAGGCTTAGAG -3'
Posted On 2018-08-29