Incidental Mutation 'R5595:4930562C15Rik'
ID 437801
Institutional Source Beutler Lab
Gene Symbol 4930562C15Rik
Ensembl Gene ENSMUSG00000022518
Gene Name RIKEN cDNA 4930562C15 gene
Synonyms
MMRRC Submission 043147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5595 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 4653280-4685550 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4682143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 991 (F991S)
Ref Sequence ENSEMBL: ENSMUSP00000097784 (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: F991S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: F991S

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: F152S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: F152S

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 unknown
Transcript: ENSMUST00000175762
AA Change: F55S
Predicted Effect probably benign
Transcript: ENSMUST00000176394
Predicted Effect probably benign
Transcript: ENSMUST00000176982
Predicted Effect probably benign
Transcript: ENSMUST00000180566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180939
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,147,296 (GRCm39) I218T possibly damaging Het
9930111J21Rik2 C T 11: 48,910,538 (GRCm39) A632T possibly damaging Het
Akt1 A T 12: 112,625,050 (GRCm39) L166Q probably null Het
Alpk2 A T 18: 65,399,319 (GRCm39) D2086E probably damaging Het
Ankrd11 A T 8: 123,621,043 (GRCm39) C915* probably null Het
Ankrd44 T C 1: 54,801,506 (GRCm39) T274A probably damaging Het
Ankrd44 A T 1: 54,774,209 (GRCm39) I398K probably damaging Het
Arhgef2 A G 3: 88,550,283 (GRCm39) T663A probably benign Het
Btbd16 G A 7: 130,425,033 (GRCm39) M471I possibly damaging Het
Btbd16 C A 7: 130,425,034 (GRCm39) Q472K probably damaging Het
Cdc37 G A 9: 21,054,509 (GRCm39) R39C probably damaging Het
Cnnm1 A G 19: 43,453,596 (GRCm39) N537S possibly damaging Het
Cop1 T A 1: 159,077,643 (GRCm39) D159E probably benign Het
Crtac1 C T 19: 42,402,390 (GRCm39) V73I probably benign Het
Cryz T A 3: 154,312,155 (GRCm39) V84E probably damaging Het
Ctnnd2 C T 15: 30,669,689 (GRCm39) L433F probably benign Het
Ctsq C A 13: 61,184,874 (GRCm39) D271Y probably benign Het
Cyp3a25 A C 5: 145,931,673 (GRCm39) probably null Het
Dmbt1 G C 7: 130,655,797 (GRCm39) W412C probably benign Het
Eif4e1b G A 13: 54,934,529 (GRCm39) V131I possibly damaging Het
Epha1 A G 6: 42,341,568 (GRCm39) V494A possibly damaging Het
Fbxl4 T C 4: 22,433,641 (GRCm39) S593P probably damaging Het
Fbxo41 G A 6: 85,456,883 (GRCm39) P429S probably benign Het
Fem1al T C 11: 29,774,288 (GRCm39) N390D probably benign Het
Fgfr3 G A 5: 33,887,347 (GRCm39) C204Y probably damaging Het
Gbf1 T C 19: 46,272,861 (GRCm39) V1665A possibly damaging Het
Htt T A 5: 35,062,741 (GRCm39) V2825E probably damaging Het
Irs1 A T 1: 82,267,646 (GRCm39) V190E probably damaging Het
Kics2 T C 10: 121,576,052 (GRCm39) probably benign Het
Klk1 T C 7: 43,878,161 (GRCm39) probably null Het
Kmt2d T C 15: 98,747,905 (GRCm39) probably benign Het
Meox1 T C 11: 101,770,169 (GRCm39) E186G probably damaging Het
Micu2 G A 14: 58,209,201 (GRCm39) R86W probably damaging Het
Mrgprb1 A T 7: 48,097,432 (GRCm39) I160K probably damaging Het
Nckap1l T A 15: 103,384,085 (GRCm39) M561K possibly damaging Het
Or4c104 A T 2: 88,586,749 (GRCm39) I90N probably damaging Het
Or52s6 A T 7: 103,091,635 (GRCm39) S232T probably damaging Het
Or56b35 A T 7: 104,963,213 (GRCm39) M1L probably benign Het
Otoa T A 7: 120,721,200 (GRCm39) L405H probably damaging Het
Phyhip A T 14: 70,704,314 (GRCm39) M178L probably benign Het
Pkd1l3 A T 8: 110,382,152 (GRCm39) N1630I probably damaging Het
Plek2 T A 12: 78,940,883 (GRCm39) T247S probably benign Het
Rhbdl3 T C 11: 80,228,409 (GRCm39) V293A probably damaging Het
Rock2 T A 12: 16,992,810 (GRCm39) F193Y probably damaging Het
Scn3a C T 2: 65,291,057 (GRCm39) M1896I probably benign Het
Snrnp200 T C 2: 127,067,933 (GRCm39) V810A probably damaging Het
Taar4 G A 10: 23,836,639 (GRCm39) S83N probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tec T A 5: 72,926,087 (GRCm39) I322F possibly damaging Het
Teddm2 T C 1: 153,726,146 (GRCm39) I190V probably benign Het
Tmem117 A G 15: 94,992,765 (GRCm39) E475G probably damaging Het
Trip10 T A 17: 57,569,460 (GRCm39) Y495N probably damaging Het
Ush2a T C 1: 188,638,695 (GRCm39) V4035A possibly damaging Het
Utrn C T 10: 12,558,062 (GRCm39) V1466M possibly damaging Het
Vasp A G 7: 18,991,816 (GRCm39) probably benign Het
Vmn1r89 A T 7: 12,953,857 (GRCm39) M130L possibly damaging Het
Vmn2r2 A T 3: 64,034,036 (GRCm39) D495E possibly damaging Het
Zfp213 A G 17: 23,780,160 (GRCm39) V120A possibly damaging 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
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
R7873:4930562C15Rik UTSW 16 4,684,091 (GRCm39) missense probably benign
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'- ATGTCTGTACTGGTTCACCAC -3'
(R):5'- AGCTTCCTCAAGGTACCCAAAG -3'

Sequencing Primer
(F):5'- TGATACTATCCAGAGCCCT -3'
(R):5'- GATCAGAGTTTCATCTCACATCTGGG -3'
Posted On 2016-10-26