Incidental Mutation 'R1272:4921509C19Rik'
ID 151337
Institutional Source Beutler Lab
Gene Symbol 4921509C19Rik
Ensembl Gene ENSMUSG00000061525
Gene Name RIKEN cDNA 4921509C19 gene
Synonyms LOC381389
MMRRC Submission 039338-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1272 (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 151313977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 567 (L567P)
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: L567P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: L567P

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 A G 19: 3,971,746 (GRCm39) L75P probably damaging Het
Ap1m2 A T 9: 21,217,006 (GRCm39) V110E possibly damaging Het
Bzw1 T C 1: 58,436,979 (GRCm39) L70P probably damaging Het
Cacna1e T C 1: 154,320,714 (GRCm39) K1347R probably damaging Het
Cd320 T C 17: 34,067,138 (GRCm39) V209A possibly damaging Het
Cmya5 T C 13: 93,231,620 (GRCm39) E1156G possibly damaging Het
Dop1a A G 9: 86,403,477 (GRCm39) D1559G probably damaging Het
Kel A T 6: 41,680,404 (GRCm39) W19R probably benign Het
Ksr1 G A 11: 79,036,904 (GRCm39) Q68* probably null Het
Leo1 G A 9: 75,357,795 (GRCm39) D397N possibly damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mapre3 T A 5: 31,019,232 (GRCm39) N25K probably damaging Het
Mki67 T A 7: 135,302,143 (GRCm39) K964* probably null Het
Nav3 G C 10: 109,572,860 (GRCm39) H1600D probably damaging Het
Rdh10 C A 1: 16,178,240 (GRCm39) H171N probably damaging Het
Ric8a T C 7: 140,442,289 (GRCm39) M513T probably benign Het
Rnf20 A G 4: 49,651,496 (GRCm39) E654G probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tfcp2l1 C A 1: 118,560,043 (GRCm39) P45Q probably damaging Het
Usp54 C T 14: 20,611,178 (GRCm39) V1213I probably damaging Het
Zfp616 A T 11: 73,976,062 (GRCm39) Q777L probably benign 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
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
R9566:4921509C19Rik UTSW 2 151,314,226 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGGCTCTTTTGACTCACAGCCAG -3'
(R):5'- CAGCTTGTCCAGAAGGCTCACTAC -3'

Sequencing Primer
(F):5'- TGACTCACAGCCAGGTCTC -3'
(R):5'- CTACTGGAGAGTCTTTGGAACATCC -3'
Posted On 2014-01-29