Incidental Mutation 'R6091:4930568D16Rik'
ID 485903
Institutional Source Beutler Lab
Gene Symbol 4930568D16Rik
Ensembl Gene ENSMUSG00000026882
Gene Name RIKEN cDNA 4930568D16 gene
Synonyms
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6091 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 35244230-35257741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 35252348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 50 (T50P)
Ref Sequence ENSEMBL: ENSMUSP00000028243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028243]
AlphaFold A2AUQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000028243
AA Change: T50P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: T50P

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 11 319 1.3e-101 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in 4930568D16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:4930568D16Rik APN 2 35,245,640 (GRCm39) missense probably benign 0.36
IGL01701:4930568D16Rik APN 2 35,254,776 (GRCm39) missense possibly damaging 0.95
IGL02049:4930568D16Rik APN 2 35,254,801 (GRCm39) missense probably benign 0.03
R0112:4930568D16Rik UTSW 2 35,244,815 (GRCm39) missense probably benign 0.06
R1778:4930568D16Rik UTSW 2 35,244,995 (GRCm39) missense probably damaging 1.00
R2398:4930568D16Rik UTSW 2 35,244,872 (GRCm39) missense possibly damaging 0.86
R3846:4930568D16Rik UTSW 2 35,244,570 (GRCm39) missense probably damaging 1.00
R4648:4930568D16Rik UTSW 2 35,244,458 (GRCm39) missense probably damaging 1.00
R5239:4930568D16Rik UTSW 2 35,244,848 (GRCm39) missense probably benign 0.38
R5418:4930568D16Rik UTSW 2 35,244,738 (GRCm39) missense probably damaging 1.00
R5889:4930568D16Rik UTSW 2 35,244,461 (GRCm39) missense probably damaging 1.00
R5951:4930568D16Rik UTSW 2 35,244,811 (GRCm39) missense probably damaging 1.00
R6014:4930568D16Rik UTSW 2 35,244,881 (GRCm39) missense probably benign 0.00
R7363:4930568D16Rik UTSW 2 35,244,782 (GRCm39) missense probably damaging 1.00
R7773:4930568D16Rik UTSW 2 35,244,606 (GRCm39) missense probably damaging 1.00
R8776:4930568D16Rik UTSW 2 35,245,002 (GRCm39) missense probably benign 0.01
R8776-TAIL:4930568D16Rik UTSW 2 35,245,002 (GRCm39) missense probably benign 0.01
R9108:4930568D16Rik UTSW 2 35,244,942 (GRCm39) missense probably damaging 1.00
R9367:4930568D16Rik UTSW 2 35,244,939 (GRCm39) missense probably benign 0.03
R9566:4930568D16Rik UTSW 2 35,244,645 (GRCm39) nonsense probably null
R9673:4930568D16Rik UTSW 2 35,244,399 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTCAATGGCAAATGAGCATAGC -3'
(R):5'- GAACCCACCCACTGAGTTATTTC -3'

Sequencing Primer
(F):5'- ACCAGGAATGTTAAACCAGATTG -3'
(R):5'- ACCCACCCACTGAGTTATTTCTATCC -3'
Posted On 2017-08-16