Incidental Mutation 'R4655:4921509C19Rik'
ID 352331
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission 041915-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4655 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151312462-151318073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151314778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 300 (V300A)
Ref Sequence ENSEMBL: ENSMUSP00000079030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080132]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000080132
AA Change: V300A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: V300A

DomainStartEndE-ValueType
S_TKc 24 271 2.18e-97 SMART
low complexity region 430 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155885
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (79/82)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 A T 4: 144,281,645 (GRCm39) F382L probably benign Het
Abca4 A G 3: 121,941,147 (GRCm39) N405S possibly damaging Het
Acsl3 A G 1: 78,668,063 (GRCm39) T212A probably damaging Het
Ahnak A G 19: 8,986,065 (GRCm39) K2450E probably damaging Het
Akap9 G A 5: 4,096,403 (GRCm39) R2426H probably benign Het
Akr1c6 T C 13: 4,499,428 (GRCm39) V266A probably damaging Het
Ccs A G 19: 4,889,232 (GRCm39) V11A probably benign Het
Cdc14a T A 3: 116,122,136 (GRCm39) H228L probably damaging Het
Cgn G A 3: 94,686,559 (GRCm39) Q248* probably null Het
Cux2 G A 5: 122,023,997 (GRCm39) T92M possibly damaging Het
Cyb5r4 A G 9: 86,941,482 (GRCm39) K68E probably benign Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dnah9 T C 11: 65,846,558 (GRCm39) N2918S probably benign Het
Dyrk1b T C 7: 27,885,176 (GRCm39) V438A probably damaging Het
Eml1 G A 12: 108,500,972 (GRCm39) D625N probably damaging Het
Eno2 T C 6: 124,740,889 (GRCm39) probably null Het
Ephb3 G A 16: 21,040,958 (GRCm39) G672D probably damaging Het
Evx1 A T 6: 52,291,182 (GRCm39) D118V probably damaging Het
Fbxl13 A G 5: 21,787,037 (GRCm39) L300S probably damaging Het
Fbxo30 T C 10: 11,166,837 (GRCm39) F520L probably damaging Het
Flt3 G A 5: 147,286,403 (GRCm39) P728S possibly damaging Het
Gas2l2 T C 11: 83,314,001 (GRCm39) E437G possibly damaging Het
Gldc A T 19: 30,138,102 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,232 (GRCm39) probably benign Het
Gm7358 A T 17: 14,279,410 (GRCm39) noncoding transcript Het
Grifin A G 5: 140,550,300 (GRCm39) V47A possibly damaging Het
H3c7 T C 13: 23,728,923 (GRCm39) V90A probably benign Het
Hddc2 G T 10: 31,204,016 (GRCm39) probably benign Het
Hkdc1 T A 10: 62,236,242 (GRCm39) R433S probably benign Het
Htt A G 5: 35,063,476 (GRCm39) D2918G probably benign Het
Itga2 A C 13: 115,009,805 (GRCm39) D383E probably benign Het
Itpr1 G A 6: 108,458,254 (GRCm39) C2007Y probably damaging Het
Krt42 C A 11: 100,160,671 (GRCm39) Q9H probably damaging Het
Lyrm7 T C 11: 54,739,434 (GRCm39) Q72R probably damaging Het
Mmp9 A G 2: 164,793,122 (GRCm39) S424G probably benign Het
Mtr A G 13: 12,242,679 (GRCm39) V457A probably damaging Het
Myo15b T C 11: 115,781,523 (GRCm39) L1359P probably damaging Het
Neb A G 2: 52,117,311 (GRCm39) L4087P probably damaging Het
Npl T C 1: 153,391,152 (GRCm39) D201G probably damaging Het
Or1af1 A G 2: 37,109,885 (GRCm39) N128S probably benign Het
Or8b1c C A 9: 38,384,120 (GRCm39) P26T probably damaging Het
Or8k3 A G 2: 86,059,037 (GRCm39) S93P probably benign Het
Pclo T C 5: 14,732,397 (GRCm39) probably benign Het
Pdp2 A G 8: 105,321,168 (GRCm39) D339G probably benign Het
Pfdn6 A T 17: 34,159,014 (GRCm39) Y16* probably null Het
Pilra C T 5: 137,833,588 (GRCm39) probably null Het
Prrc2a A T 17: 35,374,590 (GRCm39) N1353K probably benign Het
Prss3l T A 6: 41,422,984 (GRCm39) I6F probably benign Het
Ptger4 C A 15: 5,272,545 (GRCm39) A50S probably benign Het
Pus10 T C 11: 23,622,707 (GRCm39) V109A probably benign Het
Pus3 A C 9: 35,476,228 (GRCm39) D39A probably benign Het
Rab44 A G 17: 29,358,168 (GRCm39) N119D probably benign Het
Rasgrp2 T C 19: 6,454,876 (GRCm39) probably benign Het
Rhobtb2 T A 14: 70,033,438 (GRCm39) I511F probably damaging Het
Sfxn1 C A 13: 54,246,457 (GRCm39) A167D probably benign Het
Slc12a6 A G 2: 112,188,111 (GRCm39) probably null Het
Smyd4 C T 11: 75,281,558 (GRCm39) L344F probably damaging Het
Srsf11 A G 3: 157,728,972 (GRCm39) V93A probably benign Het
Tle1 A G 4: 72,063,581 (GRCm39) I224T possibly damaging Het
Tmc6 A T 11: 117,663,868 (GRCm39) S479R possibly damaging Het
Tmprss4 T C 9: 45,087,702 (GRCm39) M296V probably benign Het
Togaram1 A G 12: 65,013,894 (GRCm39) N382D possibly damaging Het
Tpcn1 A G 5: 120,677,322 (GRCm39) S662P probably damaging Het
Tppp G T 13: 74,178,983 (GRCm39) R141S probably benign Het
Ttc21a A G 9: 119,790,828 (GRCm39) D858G possibly damaging Het
Tuba3a A G 6: 125,258,130 (GRCm39) S287P possibly damaging Het
Unc80 T G 1: 66,710,821 (GRCm39) S2697A probably benign Het
Vmn1r69 A G 7: 10,314,026 (GRCm39) V235A probably benign Het
Vmn2r26 T A 6: 124,038,375 (GRCm39) I650N probably damaging Het
Vmn2r53 G A 7: 12,315,932 (GRCm39) T629I possibly damaging Het
Vmn2r74 T C 7: 85,610,555 (GRCm39) T46A probably benign Het
Vmn2r84 A T 10: 130,229,973 (GRCm39) C46* probably null Het
Vps13b T C 15: 35,770,835 (GRCm39) S2093P probably benign Het
Wdfy4 T C 14: 32,711,893 (GRCm39) R2375G probably damaging Het
Wnk2 T G 13: 49,210,359 (GRCm39) E1820A probably damaging Het
Other mutations in 4921509C19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:4921509C19Rik APN 2 151,315,453 (GRCm39) missense possibly damaging 0.46
IGL02117:4921509C19Rik APN 2 151,315,466 (GRCm39) missense probably benign 0.10
IGL02432:4921509C19Rik APN 2 151,314,481 (GRCm39) missense probably benign 0.18
IGL03025:4921509C19Rik APN 2 151,315,405 (GRCm39) missense possibly damaging 0.82
R0321:4921509C19Rik UTSW 2 151,314,620 (GRCm39) missense probably benign 0.01
R0961:4921509C19Rik UTSW 2 151,314,686 (GRCm39) missense probably benign 0.01
R1272:4921509C19Rik UTSW 2 151,313,977 (GRCm39) missense probably damaging 0.98
R1455:4921509C19Rik UTSW 2 151,314,824 (GRCm39) missense possibly damaging 0.46
R3177:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R3277:4921509C19Rik UTSW 2 151,314,020 (GRCm39) missense possibly damaging 0.65
R4206:4921509C19Rik UTSW 2 151,315,435 (GRCm39) missense probably benign 0.44
R4680:4921509C19Rik UTSW 2 151,315,390 (GRCm39) missense probably damaging 1.00
R4684:4921509C19Rik UTSW 2 151,313,791 (GRCm39) missense unknown
R4702:4921509C19Rik UTSW 2 151,314,509 (GRCm39) missense probably benign 0.00
R4867:4921509C19Rik UTSW 2 151,314,742 (GRCm39) nonsense probably null
R4962:4921509C19Rik UTSW 2 151,314,728 (GRCm39) missense possibly damaging 0.78
R5117:4921509C19Rik UTSW 2 151,314,460 (GRCm39) missense probably benign 0.00
R5484:4921509C19Rik UTSW 2 151,313,851 (GRCm39) missense probably benign
R5602:4921509C19Rik UTSW 2 151,315,459 (GRCm39) missense possibly damaging 0.83
R6374:4921509C19Rik UTSW 2 151,314,800 (GRCm39) missense possibly damaging 0.47
R6894:4921509C19Rik UTSW 2 151,315,227 (GRCm39) missense probably damaging 1.00
R7079:4921509C19Rik UTSW 2 151,315,198 (GRCm39) missense probably damaging 1.00
R7109:4921509C19Rik UTSW 2 151,315,673 (GRCm39) missense probably damaging 1.00
R7155:4921509C19Rik UTSW 2 151,315,489 (GRCm39) missense possibly damaging 0.69
R7441:4921509C19Rik UTSW 2 151,314,845 (GRCm39) missense possibly damaging 0.51
R7845:4921509C19Rik UTSW 2 151,314,229 (GRCm39) missense probably damaging 0.96
R7853:4921509C19Rik UTSW 2 151,315,600 (GRCm39) missense probably damaging 1.00
R8773:4921509C19Rik UTSW 2 151,314,062 (GRCm39) missense possibly damaging 0.91
R8805:4921509C19Rik UTSW 2 151,313,285 (GRCm39) splice site probably benign
R8983:4921509C19Rik UTSW 2 151,313,272 (GRCm39) missense unknown
R9257:4921509C19Rik UTSW 2 151,315,627 (GRCm39) missense probably benign 0.05
R9566:4921509C19Rik UTSW 2 151,314,226 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- ACACTAGATGCCCTCCTTACAG -3'
(R):5'- GGAGTTTCAGTCTGTCACCAG -3'

Sequencing Primer
(F):5'- AGATGCCCTCCTTACAGATGTTTGG -3'
(R):5'- CTGTCACCAGAACTTTGGGAG -3'
Posted On 2015-10-08