Incidental Mutation 'R0948:1810009A15Rik'
ID 81737
Institutional Source Beutler Lab
Gene Symbol 1810009A15Rik
Ensembl Gene ENSMUSG00000071653
Gene Name RIKEN cDNA 1810009A15 gene
Synonyms
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.273) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8866247-8868123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8867390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 63 (T63M)
Ref Sequence ENSEMBL: ENSMUSP00000140564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096249] [ENSMUST00000096251] [ENSMUST00000177826] [ENSMUST00000185488] [ENSMUST00000191089] [ENSMUST00000187504]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093658
Predicted Effect probably benign
Transcript: ENSMUST00000096249
SMART Domains Protein: ENSMUSP00000093968
Gene: ENSMUSG00000071652

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
Pfam:INTS5_N 29 252 1e-82 PFAM
low complexity region 254 267 N/A INTRINSIC
Pfam:INTS5_C 289 998 2.2e-249 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000096251
AA Change: T63M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093970
Gene: ENSMUSG00000071653
AA Change: T63M

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
low complexity region 99 112 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175573
Predicted Effect probably benign
Transcript: ENSMUST00000177826
SMART Domains Protein: ENSMUSP00000137432
Gene: ENSMUSG00000116166

DomainStartEndE-ValueType
Pfam:Lbh 1 101 1.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185488
SMART Domains Protein: ENSMUSP00000140221
Gene: ENSMUSG00000071653

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191089
AA Change: T63M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140564
Gene: ENSMUSG00000116347
AA Change: T63M

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000187504
SMART Domains Protein: ENSMUSP00000139692
Gene: ENSMUSG00000096740

DomainStartEndE-ValueType
Pfam:Lbh 1 101 2.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186647
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188635
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null Het
Other mutations in 1810009A15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0960:1810009A15Rik UTSW 19 8,867,792 (GRCm39) missense probably benign
R1412:1810009A15Rik UTSW 19 8,867,359 (GRCm39) splice site probably benign
R2887:1810009A15Rik UTSW 19 8,867,395 (GRCm39) missense probably damaging 1.00
R7699:1810009A15Rik UTSW 19 8,867,417 (GRCm39) missense probably benign 0.15
R7700:1810009A15Rik UTSW 19 8,867,417 (GRCm39) missense probably benign 0.15
R8362:1810009A15Rik UTSW 19 8,867,395 (GRCm39) missense probably damaging 1.00
R9507:1810009A15Rik UTSW 19 8,866,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACACCAGAGCCCATTCAGTAATTTG -3'
(R):5'- TCAAGATCCTCCATAGCTACGTCCTG -3'

Sequencing Primer
(F):5'- actgggcaatgatgctcc -3'
(R):5'- ctcacaaccatccataacaaaaatc -3'
Posted On 2013-11-08