Incidental Mutation 'R2881:2410141K09Rik'
ID477057
Institutional Source Beutler Lab
Gene Symbol 2410141K09Rik
Ensembl Gene ENSMUSG00000074832
Gene NameRIKEN cDNA 2410141K09 gene
SynonymsGt(Ayu21)35Imeg, Gt(pU21)35Imeg
MMRRC Submission 040469-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #R2881 (G1)
Quality Score106
Status Not validated
Chromosome13
Chromosomal Location66418114-66441118 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66431270 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 385 (C385S)
Ref Sequence ENSEMBL: ENSMUSP00000134352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091541] [ENSMUST00000172579] [ENSMUST00000173583]
Predicted Effect probably benign
Transcript: ENSMUST00000091541
SMART Domains Protein: ENSMUSP00000089126
Gene: ENSMUSG00000074832

DomainStartEndE-ValueType
KRAB 4 66 6.16e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172579
AA Change: C385S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134352
Gene: ENSMUSG00000074832
AA Change: C385S

DomainStartEndE-ValueType
KRAB 4 66 3.3e-15 SMART
ZnF_C2H2 75 97 1.72e-4 SMART
ZnF_C2H2 103 125 1.06e-4 SMART
ZnF_C2H2 131 153 5.81e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173583
SMART Domains Protein: ENSMUSP00000134048
Gene: ENSMUSG00000074832

DomainStartEndE-ValueType
KRAB 4 66 6.16e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225647
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,720,225 R671Q probably benign Het
Atp9a T C 2: 168,706,214 Y7C probably damaging Het
Bsn C T 9: 108,113,067 A1829T possibly damaging Het
Camta2 A T 11: 70,679,664 probably null Het
Ces1d C A 8: 93,195,031 G35W probably damaging Het
Chd3 T C 11: 69,352,120 D1425G probably damaging Het
Coasy G A 11: 101,085,849 V482I possibly damaging Het
Cyp2j9 A T 4: 96,574,012 V344E probably damaging Het
Dhx30 A T 9: 110,098,845 Y73* probably null Het
Ewsr1 C A 11: 5,078,523 probably benign Het
Faap100 T C 11: 120,374,359 T564A probably damaging Het
Galc A G 12: 98,213,096 M518T probably benign Het
Gm15448 T A 7: 3,825,641 M1L probably null Het
Gm340 A G 19: 41,583,049 E227G probably damaging Het
Gpatch8 A G 11: 102,479,917 Y932H unknown Het
Hace1 T A 10: 45,671,134 M471K probably benign Het
Irf2bpl T A 12: 86,882,777 D374V probably damaging Het
Nbea A G 3: 55,647,358 V2623A probably benign Het
Olfr1256 T C 2: 89,844,984 probably null Het
Olfr206 A T 16: 59,344,852 L283Q probably damaging Het
Pex5l T A 3: 32,993,003 probably null Het
Plxnb1 T A 9: 109,114,412 S1908T probably damaging Het
Sgo2b T C 8: 63,927,536 Y754C probably damaging Het
She T A 3: 89,831,924 C141S probably benign Het
Tex15 T A 8: 33,574,907 L1455* probably null Het
Tfec T A 6: 16,835,233 H182L probably benign Het
Tgm6 T C 2: 130,137,439 V163A probably benign Het
Vmn2r88 G T 14: 51,418,689 C794F probably damaging Het
Zfp871 T C 17: 32,775,433 K256R probably damaging Het
Other mutations in 2410141K09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2698:2410141K09Rik UTSW 13 66433434 missense probably damaging 0.99
R5217:2410141K09Rik UTSW 13 66433726 missense probably damaging 1.00
R5401:2410141K09Rik UTSW 13 66431663 missense probably benign 0.01
R5429:2410141K09Rik UTSW 13 66431828 missense probably benign 0.00
R5532:2410141K09Rik UTSW 13 66431681 missense probably damaging 1.00
R5626:2410141K09Rik UTSW 13 66431981 missense probably benign 0.00
R5686:2410141K09Rik UTSW 13 66431663 missense probably benign 0.01
R6151:2410141K09Rik UTSW 13 66431681 missense probably damaging 1.00
R6173:2410141K09Rik UTSW 13 66431549 missense probably benign 0.00
R6857:2410141K09Rik UTSW 13 66432102 missense probably benign
R7405:2410141K09Rik UTSW 13 66431059 missense unknown
R7737:2410141K09Rik UTSW 13 66433677 critical splice donor site probably null
Z1088:2410141K09Rik UTSW 13 66431186 missense probably damaging 1.00
Z1088:2410141K09Rik UTSW 13 66431741 missense probably benign 0.00
Predicted Primers
Posted On2017-05-15