Incidental Mutation 'R9566:4921509C19Rik'
ID 721568
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9566 (G1)
Quality Score 171.009
Status Not validated
Chromosome 2
Chromosomal Location 151312462-151318073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 151314226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 484 (T484I)
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: T484I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: T484I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik C A 2: 35,244,645 (GRCm39) E236* probably null Het
Abca13 C A 11: 9,414,927 (GRCm39) T3998K probably damaging Het
Adam8 A G 7: 139,565,285 (GRCm39) V643A probably benign Het
Adamtsl2 T C 2: 26,979,773 (GRCm39) probably null Het
Akr1c18 A T 13: 4,195,203 (GRCm39) probably null Het
Atf7ip2 C T 16: 10,044,893 (GRCm39) S222L probably benign Het
Atp2c1 A T 9: 105,343,828 (GRCm39) I127N probably damaging Het
Bcl11b A G 12: 107,881,784 (GRCm39) Y844H possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Btnl4 A G 17: 34,688,263 (GRCm39) I505T probably benign Het
Cacna1b G A 2: 24,498,092 (GRCm39) Q2024* probably null Het
Cars1 A G 7: 143,113,384 (GRCm39) probably null Het
Ccne2 A G 4: 11,193,026 (GRCm39) K49E probably benign Het
Ccnk A G 12: 108,152,695 (GRCm39) N4S probably benign Het
Cfap91 A G 16: 38,155,996 (GRCm39) F76L probably damaging Het
Clasp1 A G 1: 118,479,801 (GRCm39) D1027G probably benign Het
Copb1 A T 7: 113,825,997 (GRCm39) N662K probably benign Het
Cox8b C T 7: 140,478,926 (GRCm39) S63N probably benign Het
Cpa4 C A 6: 30,579,608 (GRCm39) D138E probably benign Het
Dcc A G 18: 71,943,866 (GRCm39) C262R possibly damaging Het
Dennd5a C T 7: 109,533,254 (GRCm39) G172E probably benign Het
Dgke C T 11: 88,932,273 (GRCm39) probably null Het
Dnah11 A G 12: 117,938,728 (GRCm39) Y3247H possibly damaging Het
Dnajc21 T G 15: 10,464,019 (GRCm39) I49L possibly damaging Het
Dnm1 A G 2: 32,228,011 (GRCm39) probably null Het
Ecd A T 14: 20,393,368 (GRCm39) Y93* probably null Het
Epm2aip1 T C 9: 111,101,807 (GRCm39) L260P probably damaging Het
Eqtn G A 4: 94,813,185 (GRCm39) P134S probably damaging Het
Ercc1 T A 7: 19,088,377 (GRCm39) C243* probably null Het
Fbln2 C A 6: 91,231,513 (GRCm39) H537N probably benign Het
Ffar2 A G 7: 30,518,847 (GRCm39) F231S probably damaging Het
Fhod1 G A 8: 106,064,516 (GRCm39) A172V unknown Het
Gbp8 C T 5: 105,198,799 (GRCm39) V39M probably damaging Het
Gm5773 T C 3: 93,680,742 (GRCm39) L138P probably damaging Het
Gtf2ird2 A G 5: 134,246,256 (GRCm39) E838G probably damaging Het
Gucy2e C A 11: 69,118,947 (GRCm39) V682L probably damaging Het
Hmcn1 T G 1: 150,498,660 (GRCm39) N4073T probably benign Het
Il22b A T 10: 118,130,860 (GRCm39) L12H probably damaging Het
Ist1 A T 8: 110,408,816 (GRCm39) S94T probably benign Het
Klhl24 A T 16: 19,934,669 (GRCm39) N381Y probably damaging Het
Krtap24-1 C T 16: 88,408,886 (GRCm39) C80Y Het
Lcp2 T A 11: 34,000,944 (GRCm39) D42E Het
Map1s G A 8: 71,365,580 (GRCm39) A162T probably benign Het
Mbd5 T G 2: 49,169,521 (GRCm39) V1564G probably damaging Het
Mettl15 A T 2: 108,923,592 (GRCm39) S277T possibly damaging Het
Mfsd12 C G 10: 81,196,962 (GRCm39) T177S probably benign Het
Mlxipl A G 5: 135,152,616 (GRCm39) D244G possibly damaging Het
Mutyh G A 4: 116,673,780 (GRCm39) V164M probably damaging Het
Mypop A G 7: 18,726,534 (GRCm39) D167G probably benign Het
Nbeal2 C T 9: 110,457,989 (GRCm39) V2169M probably benign Het
Nifk G T 1: 118,260,492 (GRCm39) V259F probably damaging Het
Oasl1 A G 5: 115,066,331 (GRCm39) T150A probably benign Het
Obox6 G A 7: 15,568,352 (GRCm39) R175C Het
Or2y11 T C 11: 49,443,162 (GRCm39) V196A probably benign Het
Or5p52 T A 7: 107,502,409 (GRCm39) C162S possibly damaging Het
Or5p69 A T 7: 107,966,783 (GRCm39) I29F probably benign Het
Per3 A G 4: 151,113,335 (GRCm39) F331S Het
Pitrm1 A G 13: 6,613,452 (GRCm39) D508G probably benign Het
Plec T A 15: 76,062,790 (GRCm39) I2427F possibly damaging Het
Prkd3 A T 17: 79,292,652 (GRCm39) V140D probably damaging Het
Prpf3 G A 3: 95,760,800 (GRCm39) A34V probably damaging Het
Ptar1 A G 19: 23,686,206 (GRCm39) T173A probably benign Het
Resf1 A G 6: 149,227,352 (GRCm39) N133D possibly damaging Het
Rest G T 5: 77,416,277 (GRCm39) E164* probably null Het
Rnpepl1 A C 1: 92,847,468 (GRCm39) D685A Het
Sc5d T C 9: 42,170,008 (GRCm39) N71S probably damaging Het
Serpinb3c A T 1: 107,200,425 (GRCm39) S239R probably damaging Het
Slc28a3 C T 13: 58,758,653 (GRCm39) probably benign Het
Smagp T C 15: 100,519,844 (GRCm39) Y60C probably damaging Het
Spink10 T A 18: 62,790,939 (GRCm39) M75K probably benign Het
Spryd7 T C 14: 61,777,639 (GRCm39) N147S probably benign Het
Steap4 A G 5: 8,025,646 (GRCm39) E69G possibly damaging Het
Svil C A 18: 5,099,661 (GRCm39) H1732Q probably damaging Het
Tgoln1 T C 6: 72,592,911 (GRCm39) T190A probably benign Het
Tmem63c C T 12: 87,108,305 (GRCm39) S106F possibly damaging Het
Trpv5 T C 6: 41,637,456 (GRCm39) D375G probably null Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ugt2b38 A G 5: 87,558,209 (GRCm39) L484P probably damaging Het
Uox A T 3: 146,330,308 (GRCm39) T179S possibly damaging Het
Usp34 A G 11: 23,317,529 (GRCm39) I882V Het
Vmn2r124 A G 17: 18,293,581 (GRCm39) K556R probably benign Het
Vmn2r57 A G 7: 41,077,089 (GRCm39) F359S probably benign Het
Wasf2 T C 4: 132,921,766 (GRCm39) V295A unknown Het
Znhit1 G A 5: 137,015,785 (GRCm39) probably benign Het
Zscan22 C T 7: 12,640,866 (GRCm39) T370M 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
R4655:4921509C19Rik UTSW 2 151,314,778 (GRCm39) missense probably benign 0.03
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
Predicted Primers PCR Primer
(F):5'- TTGTAGAGCAGGACCCTCAC -3'
(R):5'- TGTCCAGAAGGCTCACTACAGG -3'

Sequencing Primer
(F):5'- AGCAGGACCCTCACCCTTG -3'
(R):5'- CTCACTACAGGAGGAGCATCTG -3'
Posted On 2022-08-09