Incidental Mutation 'R2411:9030612E09Rik'
ID 249998
Institutional Source Beutler Lab
Gene Symbol 9030612E09Rik
Ensembl Gene ENSMUSG00000045008
Gene Name RIKEN cDNA 9030612E09 gene
Synonyms
MMRRC Submission 040376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R2411 (G1)
Quality Score 147
Status Validated
Chromosome 10
Chromosomal Location 43050695-43052558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43050796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 30 (R30L)
Ref Sequence ENSEMBL: ENSMUSP00000049699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040275] [ENSMUST00000053792]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000040275
SMART Domains Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248

DomainStartEndE-ValueType
low complexity region 125 139 N/A INTRINSIC
internal_repeat_1 149 201 2.34e-5 PROSPERO
Pfam:SOBP 224 543 1.5e-88 PFAM
low complexity region 565 583 N/A INTRINSIC
low complexity region 590 603 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
low complexity region 695 714 N/A INTRINSIC
low complexity region 725 747 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000053792
AA Change: R30L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049699
Gene: ENSMUSG00000045008
AA Change: R30L

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
low complexity region 45 58 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189987
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4933402D24Rik A G 1: 63,795,373 (GRCm39) probably benign Het
Aadacl2 A G 3: 59,924,844 (GRCm39) D137G possibly damaging Het
Acad11 T G 9: 103,963,222 (GRCm39) probably benign Het
Acap1 A T 11: 69,776,311 (GRCm39) N229K probably damaging Het
Agbl1 A G 7: 76,369,898 (GRCm39) T666A probably damaging Het
Btbd16 T C 7: 130,391,954 (GRCm39) F160L probably damaging Het
Clock A C 5: 76,379,360 (GRCm39) H525Q probably benign Het
Col6a1 G T 10: 76,546,922 (GRCm39) Q767K unknown Het
Creld1 A G 6: 113,466,737 (GRCm39) H240R probably benign Het
Dlg4 G A 11: 69,932,755 (GRCm39) probably null Het
Fam204a A T 19: 60,187,870 (GRCm39) *237R probably null Het
Filip1 T A 9: 79,805,715 (GRCm39) N13I probably damaging Het
Gm14295 G T 2: 176,499,206 (GRCm39) A19S probably benign Het
Hddc3 A T 7: 79,993,341 (GRCm39) Q56L probably damaging Het
Hes6 A C 1: 91,340,986 (GRCm39) probably null Het
Hormad1 A G 3: 95,487,326 (GRCm39) D270G probably benign Het
Ifitm1 A G 7: 140,549,711 (GRCm39) probably null Het
Igbp1b A C 6: 138,634,871 (GRCm39) V191G probably damaging Het
Impg2 T A 16: 56,072,517 (GRCm39) N316K probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lilra6 T C 7: 3,914,453 (GRCm39) Y566C probably damaging Het
Map4k4 A G 1: 40,046,656 (GRCm39) D775G probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Mybpc2 G A 7: 44,155,662 (GRCm39) R864W probably damaging Het
Nckap1l C A 15: 103,391,995 (GRCm39) P810Q probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or14c44 T C 7: 86,062,290 (GRCm39) V281A possibly damaging Het
Or1ad1 A G 11: 50,875,758 (GRCm39) T77A probably damaging Het
Or4a27 C T 2: 88,559,741 (GRCm39) M67I probably benign Het
Ppp2r3c T C 12: 55,345,269 (GRCm39) K73R probably benign Het
Ptpru A T 4: 131,498,780 (GRCm39) F1311Y probably damaging Het
Ror2 G A 13: 53,284,980 (GRCm39) P144L possibly damaging Het
Setd2 A G 9: 110,379,497 (GRCm39) E1104G possibly damaging Het
St14 G A 9: 31,019,530 (GRCm39) T97I probably benign Het
Stag3 A G 5: 138,281,290 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tor1b G T 2: 30,845,824 (GRCm39) S167I probably damaging Het
Ttn T A 2: 76,568,359 (GRCm39) E27511D probably damaging Het
Uso1 T A 5: 92,306,258 (GRCm39) probably benign Het
Vmn1r10 G T 6: 57,091,124 (GRCm39) V239F probably benign Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zfp160 C T 17: 21,246,007 (GRCm39) R186C possibly damaging Het
Zfp869 A G 8: 70,159,179 (GRCm39) C465R probably damaging Het
Zfp957 T C 14: 79,451,782 (GRCm39) K6E unknown Het
Other mutations in 9030612E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:9030612E09Rik APN 10 43,050,847 (GRCm39) nonsense probably null
IGL02342:9030612E09Rik APN 10 43,050,997 (GRCm39) missense probably damaging 0.99
IGL02671:9030612E09Rik APN 10 43,050,887 (GRCm39) missense probably benign
R0801:9030612E09Rik UTSW 10 43,050,987 (GRCm39) missense possibly damaging 0.66
R6548:9030612E09Rik UTSW 10 43,050,769 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCCATCTTCCTGAGCTCTG -3'
(R):5'- CTAAGCGACATTCAGCCTCC -3'

Sequencing Primer
(F):5'- GAGCTCTGTCTGTCCGCATG -3'
(R):5'- TAGTCTTCGGAGCAGGACAC -3'
Posted On 2014-11-12