Incidental Mutation 'R7873:4930562C15Rik'
ID 608285
Institutional Source Beutler Lab
Gene Symbol 4930562C15Rik
Ensembl Gene ENSMUSG00000022518
Gene Name RIKEN cDNA 4930562C15 gene
Synonyms
MMRRC Submission 045925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7873 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 4653280-4685550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4684091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 229 (I229F)
Ref Sequence ENSEMBL: ENSMUSP00000127814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000171105] [ENSMUST00000176394] [ENSMUST00000176982]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100211
AA Change: I1068F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: I1068F

DomainStartEndE-ValueType
coiled coil region 74 101 N/A INTRINSIC
coiled coil region 181 211 N/A INTRINSIC
internal_repeat_1 289 315 2.54e-5 PROSPERO
internal_repeat_1 314 341 2.54e-5 PROSPERO
low complexity region 360 377 N/A INTRINSIC
low complexity region 402 424 N/A INTRINSIC
low complexity region 452 469 N/A INTRINSIC
low complexity region 573 604 N/A INTRINSIC
low complexity region 616 627 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 652 672 N/A INTRINSIC
Pfam:DUF4795 745 960 1.7e-46 PFAM
low complexity region 1095 1109 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171105
AA Change: I229F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: I229F

DomainStartEndE-ValueType
Pfam:DUF4795 37 125 1.1e-20 PFAM
low complexity region 256 270 N/A INTRINSIC
low complexity region 272 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175762
Predicted Effect probably benign
Transcript: ENSMUST00000176394
Predicted Effect probably benign
Transcript: ENSMUST00000176982
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,888,792 (GRCm39) L1246S probably benign Het
Abtb3 T C 10: 85,466,989 (GRCm39) V685A possibly damaging Het
Acacb A C 5: 114,361,339 (GRCm39) S1340R possibly damaging Het
Ankrd6 A T 4: 32,806,499 (GRCm39) S585T possibly damaging Het
Ark2c T C 18: 77,554,449 (GRCm39) D248G possibly damaging Het
Ccdc54 A G 16: 50,410,672 (GRCm39) V198A probably benign Het
Cnga4 A G 7: 105,056,249 (GRCm39) I387V probably damaging Het
Creg1 G T 1: 165,597,448 (GRCm39) D141Y probably damaging Het
Cxcr2 T C 1: 74,198,166 (GRCm39) L220P probably benign Het
Dennd5a T A 7: 109,526,141 (GRCm39) I344F probably damaging Het
Dysf A G 6: 84,060,747 (GRCm39) N448S probably benign Het
Efcab6 A G 15: 83,902,826 (GRCm39) probably null Het
Elf2 C A 3: 51,164,099 (GRCm39) V489F probably damaging Het
Elmod2 G T 8: 84,057,848 (GRCm39) H12N probably benign Het
Eln C T 5: 134,740,041 (GRCm39) G618E unknown Het
Fbxo33 G T 12: 59,265,807 (GRCm39) S153R possibly damaging Het
Fbxw7 A T 3: 84,833,071 (GRCm39) I38F possibly damaging Het
Flnc G A 6: 29,456,990 (GRCm39) V2329I possibly damaging Het
Fsip2 C T 2: 82,779,856 (GRCm39) R201C probably damaging Het
Gpr155 T C 2: 73,173,934 (GRCm39) E825G possibly damaging Het
Grk3 A T 5: 113,077,552 (GRCm39) M405K probably benign Het
H2bc7 A T 13: 23,758,244 (GRCm39) Y41N probably damaging Het
Hace1 T C 10: 45,548,883 (GRCm39) V597A possibly damaging Het
Ido1 A G 8: 25,074,758 (GRCm39) F295S probably damaging Het
Ighe T A 12: 113,234,942 (GRCm39) E406V Het
Ighv1-31 G T 12: 114,793,274 (GRCm39) A15E probably benign Het
Ighv1-75 A T 12: 115,797,988 (GRCm39) L10H probably damaging Het
Inpp5e T A 2: 26,297,957 (GRCm39) K215* probably null Het
Iqcn A G 8: 71,163,989 (GRCm39) M1061V probably benign Het
Krt18 C T 15: 101,939,391 (GRCm39) T288I probably benign Het
Lrwd1 A T 5: 136,152,792 (GRCm39) I490N probably benign Het
Macf1 T A 4: 123,398,344 (GRCm39) probably null Het
Mapk8ip3 A G 17: 25,125,146 (GRCm39) V482A probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdk A G 2: 91,761,773 (GRCm39) F7S probably benign Het
Mycbp2 G A 14: 103,393,582 (GRCm39) P2993L probably damaging Het
Niban3 A T 8: 72,054,892 (GRCm39) I193F probably damaging Het
Nme4 A T 17: 26,312,862 (GRCm39) Y99N probably damaging Het
Nr1d2 G A 14: 18,216,656 (GRCm38) R171* probably null Het
Or10h28 A G 17: 33,488,348 (GRCm39) I217V probably benign Het
Osgep G T 14: 51,153,347 (GRCm39) T326K probably damaging Het
Pdgfd C T 9: 6,337,271 (GRCm39) T201M probably benign Het
Pdk4 T C 6: 5,487,086 (GRCm39) D320G probably benign Het
Pelp1 A T 11: 70,285,552 (GRCm39) V772D probably damaging Het
Pkdrej T A 15: 85,700,724 (GRCm39) R1737S probably benign Het
Ppp1r13b A T 12: 111,801,320 (GRCm39) Y578N probably damaging Het
Ppp1r3b A C 8: 35,851,329 (GRCm39) K56T probably benign Het
Prdm11 G T 2: 92,819,628 (GRCm39) H261N probably benign Het
Preb T A 5: 31,116,109 (GRCm39) N166I probably benign Het
Psd3 T C 8: 68,335,634 (GRCm39) K681R possibly damaging Het
Ptgs1 G A 2: 36,141,292 (GRCm39) V580I probably damaging Het
Ptpro T A 6: 137,407,737 (GRCm39) S949T probably benign Het
Pum2 A G 12: 8,798,802 (GRCm39) E973G possibly damaging Het
Rdh1 A G 10: 127,595,892 (GRCm39) D29G probably benign Het
Rel A G 11: 23,692,957 (GRCm39) S359P probably benign Het
Ryr3 T A 2: 112,560,773 (GRCm39) H2996L probably benign Het
Scarb1 C T 5: 125,371,103 (GRCm39) C323Y probably damaging Het
Scn5a C T 9: 119,327,193 (GRCm39) R1309H probably damaging Het
Serpinb12 T A 1: 106,881,469 (GRCm39) V202E probably damaging Het
Shh A G 5: 28,663,298 (GRCm39) L290P possibly damaging Het
Six4 CT C 12: 73,151,013 (GRCm39) probably benign Het
Slc34a2 G A 5: 53,215,714 (GRCm39) G42R probably benign Het
Slc41a1 A G 1: 131,758,561 (GRCm39) N68D possibly damaging Het
Slc7a6os A G 8: 106,937,356 (GRCm39) S64P probably damaging Het
Slco1a7 T A 6: 141,673,448 (GRCm39) L363F probably benign Het
Smc1b A G 15: 84,994,851 (GRCm39) probably null Het
Snx9 T C 17: 5,968,751 (GRCm39) V349A possibly damaging Het
Sstr1 G T 12: 58,260,313 (GRCm39) G312V probably damaging Het
Tnfsf10 A G 3: 27,389,808 (GRCm39) I290V probably benign Het
Trio A G 15: 27,805,770 (GRCm39) C1717R possibly damaging Het
Ttbk1 T G 17: 46,757,494 (GRCm39) S1047R probably damaging Het
Ttn T C 2: 76,746,877 (GRCm39) D4724G probably benign Het
Uba1y T A Y: 825,542 (GRCm39) N301K probably benign Het
Unc5c A G 3: 141,533,310 (GRCm39) T853A probably benign Het
Vmn2r45 T A 7: 8,486,074 (GRCm39) I405L probably benign Het
Wdr37 A T 13: 8,855,969 (GRCm39) M458K probably damaging Het
Zdhhc14 A T 17: 5,762,729 (GRCm39) Y211F probably benign Het
Zfp108 G A 7: 23,960,758 (GRCm39) V450I probably benign Het
Zfp212 A T 6: 47,907,860 (GRCm39) R280* probably null Het
Zfp940 A T 7: 29,535,042 (GRCm39) V108E unknown Het
Other mutations in 4930562C15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00936:4930562C15Rik APN 16 4,682,510 (GRCm39) missense probably benign 0.31
IGL01610:4930562C15Rik APN 16 4,669,429 (GRCm39) splice site probably benign
IGL02869:4930562C15Rik APN 16 4,685,323 (GRCm39) missense possibly damaging 0.68
IGL03242:4930562C15Rik APN 16 4,667,189 (GRCm39) missense unknown
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0063:4930562C15Rik UTSW 16 4,678,912 (GRCm39) nonsense probably null
R0083:4930562C15Rik UTSW 16 4,667,406 (GRCm39) missense unknown
R0565:4930562C15Rik UTSW 16 4,682,200 (GRCm39) missense probably benign 0.22
R0630:4930562C15Rik UTSW 16 4,668,803 (GRCm39) missense possibly damaging 0.90
R0734:4930562C15Rik UTSW 16 4,668,198 (GRCm39) missense probably benign 0.01
R1200:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R1738:4930562C15Rik UTSW 16 4,682,475 (GRCm39) missense probably damaging 1.00
R1775:4930562C15Rik UTSW 16 4,669,422 (GRCm39) splice site probably null
R1945:4930562C15Rik UTSW 16 4,653,549 (GRCm39) missense unknown
R2132:4930562C15Rik UTSW 16 4,653,835 (GRCm39) missense unknown
R2445:4930562C15Rik UTSW 16 4,682,261 (GRCm39) splice site probably null
R2696:4930562C15Rik UTSW 16 4,668,228 (GRCm39) missense probably benign 0.04
R4729:4930562C15Rik UTSW 16 4,667,187 (GRCm39) missense unknown
R4779:4930562C15Rik UTSW 16 4,667,613 (GRCm39) missense unknown
R4806:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4808:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4876:4930562C15Rik UTSW 16 4,667,536 (GRCm39) missense unknown
R4931:4930562C15Rik UTSW 16 4,678,910 (GRCm39) missense possibly damaging 0.47
R4956:4930562C15Rik UTSW 16 4,672,816 (GRCm39) missense probably damaging 0.99
R5085:4930562C15Rik UTSW 16 4,653,837 (GRCm39) nonsense probably null
R5203:4930562C15Rik UTSW 16 4,653,462 (GRCm39) missense unknown
R5229:4930562C15Rik UTSW 16 4,667,915 (GRCm39) missense possibly damaging 0.73
R5461:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5462:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5464:4930562C15Rik UTSW 16 4,682,227 (GRCm39) missense probably damaging 1.00
R5595:4930562C15Rik UTSW 16 4,682,143 (GRCm39) missense probably benign 0.01
R6054:4930562C15Rik UTSW 16 4,653,729 (GRCm39) missense unknown
R6405:4930562C15Rik UTSW 16 4,669,742 (GRCm39) missense probably damaging 0.97
R6859:4930562C15Rik UTSW 16 4,669,799 (GRCm39) missense possibly damaging 0.86
R7124:4930562C15Rik UTSW 16 4,682,196 (GRCm39) missense probably benign 0.02
R7139:4930562C15Rik UTSW 16 4,668,048 (GRCm39) missense probably benign 0.00
R7182:4930562C15Rik UTSW 16 4,667,578 (GRCm39) missense unknown
R7219:4930562C15Rik UTSW 16 4,667,508 (GRCm39) missense unknown
R7366:4930562C15Rik UTSW 16 4,653,633 (GRCm39) missense unknown
R7592:4930562C15Rik UTSW 16 4,667,138 (GRCm39) missense unknown
R7759:4930562C15Rik UTSW 16 4,682,514 (GRCm39) missense probably benign 0.01
R7789:4930562C15Rik UTSW 16 4,682,175 (GRCm39) missense probably benign 0.01
R7916:4930562C15Rik UTSW 16 4,682,454 (GRCm39) nonsense probably null
R8093:4930562C15Rik UTSW 16 4,669,368 (GRCm39) missense possibly damaging 0.86
R8169:4930562C15Rik UTSW 16 4,684,082 (GRCm39) missense probably benign 0.00
R8278:4930562C15Rik UTSW 16 4,668,040 (GRCm39) missense probably benign 0.33
R8372:4930562C15Rik UTSW 16 4,682,152 (GRCm39) missense probably damaging 0.99
R8493:4930562C15Rik UTSW 16 4,653,453 (GRCm39) start codon destroyed unknown
R8549:4930562C15Rik UTSW 16 4,681,061 (GRCm39) critical splice donor site probably null
R8947:4930562C15Rik UTSW 16 4,665,292 (GRCm39) missense unknown
R9137:4930562C15Rik UTSW 16 4,685,312 (GRCm39) missense probably benign
R9339:4930562C15Rik UTSW 16 4,667,521 (GRCm39) missense unknown
R9422:4930562C15Rik UTSW 16 4,667,153 (GRCm39) missense
R9561:4930562C15Rik UTSW 16 4,680,980 (GRCm39) missense possibly damaging 0.52
R9618:4930562C15Rik UTSW 16 4,667,418 (GRCm39) missense unknown
R9747:4930562C15Rik UTSW 16 4,668,711 (GRCm39) missense probably damaging 1.00
R9773:4930562C15Rik UTSW 16 4,668,057 (GRCm39) missense possibly damaging 0.86
X0028:4930562C15Rik UTSW 16 4,685,231 (GRCm39) missense possibly damaging 0.83
Z1176:4930562C15Rik UTSW 16 4,684,112 (GRCm39) missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- GCAAGGGGCTTTTCTCTCAG -3'
(R):5'- AACTGGAGGCCCCATAACTTC -3'

Sequencing Primer
(F):5'- CTCAGTGGATGGTATATAAGAAACAG -3'
(R):5'- CAGCCAGCCAGAAGGTG -3'
Posted On 2019-12-20