Incidental Mutation 'R4680:4921509C19Rik'
ID 349975
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission 041933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4680 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151312462-151318073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151315390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 96 (L96Q)
Ref Sequence ENSEMBL: ENSMUSP00000079030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080132]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080132
AA Change: L96Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: L96Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,822,533 (GRCm39) Y368C probably damaging Het
Acin1 T C 14: 54,924,215 (GRCm39) N8S probably benign Het
Aspm T C 1: 139,408,409 (GRCm39) V2432A probably benign Het
Atf2 A T 2: 73,659,025 (GRCm39) probably null Het
B3gnt2 A G 11: 22,787,105 (GRCm39) S28P probably damaging Het
Chil5 A G 3: 105,942,191 (GRCm39) probably benign Het
Crybg2 CTTCCAGAGCCATGGACCCATCTTTTCCA CTTCCA 4: 133,800,029 (GRCm39) probably null Het
Dennd3 A T 15: 73,405,225 (GRCm39) H326L possibly damaging Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eprs1 T C 1: 185,118,475 (GRCm39) V461A possibly damaging Het
Fhad1 G A 4: 141,738,858 (GRCm39) Q31* probably null Het
Gpr26 A G 7: 131,576,082 (GRCm39) T249A probably benign Het
Gtf2ird1 T A 5: 134,386,735 (GRCm39) M958L probably damaging Het
Kat2b-ps A G 5: 93,539,299 (GRCm39) noncoding transcript Het
Kdm2b A T 5: 123,072,849 (GRCm39) V343E probably damaging Het
Lipi A G 16: 75,362,417 (GRCm39) probably null Het
Ltb4r1 T C 14: 56,004,925 (GRCm39) F76S probably damaging Het
Msantd2 A G 9: 37,434,387 (GRCm39) Y209C probably damaging Het
Nid1 G A 13: 13,647,437 (GRCm39) C401Y probably damaging Het
Obox1 A T 7: 15,290,089 (GRCm39) N144I probably damaging Het
Or14j7 T C 17: 38,234,813 (GRCm39) S119P probably damaging Het
Or8h9 T C 2: 86,789,665 (GRCm39) I46V possibly damaging Het
Or8k20 T A 2: 86,106,517 (GRCm39) I105F possibly damaging Het
Plec T C 15: 76,064,775 (GRCm39) E1630G unknown Het
Ppp2r5e C T 12: 75,516,533 (GRCm39) R218Q probably damaging Het
Prkdc A G 16: 15,589,894 (GRCm39) T2586A probably benign Het
Ptprj T C 2: 90,290,840 (GRCm39) N633S probably benign Het
Rab11fip2 T C 19: 59,924,452 (GRCm39) N284S probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Ropn1 A G 16: 34,497,675 (GRCm39) Q189R possibly damaging Het
Rwdd2b A G 16: 87,233,950 (GRCm39) probably null Het
Ryr2 A T 13: 11,610,119 (GRCm39) S4236T probably benign Het
Sigmar1 A G 4: 41,741,251 (GRCm39) M1T probably null Het
Sncg T A 14: 34,095,268 (GRCm39) N79I probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn C T 2: 76,763,021 (GRCm39) G3213S probably damaging Het
Uqcrc1 G A 9: 108,776,929 (GRCm39) R77H probably damaging Het
Vps13d A C 4: 144,835,080 (GRCm39) L2756R possibly 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
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'- GCCCATGATTATCTTGGTGCC -3'
(R):5'- AAGTAAAACTGGCGAGCCATCTC -3'

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