Incidental Mutation 'R4034:9930111J21Rik2'
ID 313632
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R4034 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48928487-48942069 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 48910108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 775 (L775*)
Ref Sequence ENSEMBL: ENSMUSP00000098853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056759] [ENSMUST00000101295] [ENSMUST00000179282]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056759
SMART Domains Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 1.5e-33 PFAM
Pfam:7tm_4 108 252 1.7e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101295
AA Change: L775*
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: L775*

DomainStartEndE-ValueType
Pfam:IIGP 36 398 2e-125 PFAM
Pfam:DLIC 52 107 3.2e-5 PFAM
Pfam:MMR_HSR1 72 235 2e-11 PFAM
low complexity region 430 444 N/A INTRINSIC
Pfam:IIGP 447 820 2.3e-151 PFAM
Pfam:MMR_HSR1 483 607 5.2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179282
SMART Domains Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328

DomainStartEndE-ValueType
Pfam:7tm_4 1 276 3.6e-51 PFAM
Pfam:7TM_GPCR_Srsx 4 227 5.7e-7 PFAM
Pfam:7tm_1 10 259 3.8e-26 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc168 A G 1: 44,098,026 (GRCm39) V1024A probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably damaging Het
Other mutations in 9930111J21Rik2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1986:9930111J21Rik2 UTSW 11 48,910,119 (GRCm39) missense possibly damaging 0.83
R2023:9930111J21Rik2 UTSW 11 48,911,144 (GRCm39) missense probably benign 0.01
R2202:9930111J21Rik2 UTSW 11 48,910,149 (GRCm39) missense probably damaging 1.00
R2205:9930111J21Rik2 UTSW 11 48,910,149 (GRCm39) missense probably damaging 1.00
R2337:9930111J21Rik2 UTSW 11 48,911,131 (GRCm39) missense probably benign 0.01
R3709:9930111J21Rik2 UTSW 11 48,910,480 (GRCm39) missense probably damaging 1.00
R3716:9930111J21Rik2 UTSW 11 48,910,363 (GRCm39) missense probably damaging 0.96
R3738:9930111J21Rik2 UTSW 11 48,910,108 (GRCm39) nonsense probably null
R3739:9930111J21Rik2 UTSW 11 48,910,108 (GRCm39) nonsense probably null
R5413:9930111J21Rik2 UTSW 11 48,911,204 (GRCm39) missense possibly damaging 0.91
R5595:9930111J21Rik2 UTSW 11 48,910,538 (GRCm39) missense possibly damaging 0.95
R5611:9930111J21Rik2 UTSW 11 48,910,828 (GRCm39) missense possibly damaging 0.91
R5651:9930111J21Rik2 UTSW 11 48,910,700 (GRCm39) missense probably damaging 0.99
R5715:9930111J21Rik2 UTSW 11 48,910,777 (GRCm39) missense probably damaging 1.00
R6169:9930111J21Rik2 UTSW 11 48,910,088 (GRCm39) splice site probably null
R6218:9930111J21Rik2 UTSW 11 48,910,134 (GRCm39) missense probably benign 0.06
R6536:9930111J21Rik2 UTSW 11 48,910,550 (GRCm39) missense probably benign 0.03
R7186:9930111J21Rik2 UTSW 11 48,910,100 (GRCm39) missense possibly damaging 0.96
R7891:9930111J21Rik2 UTSW 11 48,910,543 (GRCm39) missense probably benign 0.11
R8056:9930111J21Rik2 UTSW 11 48,910,909 (GRCm39) missense probably benign 0.40
R8419:9930111J21Rik2 UTSW 11 48,910,312 (GRCm39) missense probably damaging 1.00
R8726:9930111J21Rik2 UTSW 11 48,910,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCCAGCCCTAAGGTTAGTAC -3'
(R):5'- AGAAGTTGGAAGAGACCTTGACTC -3'

Sequencing Primer
(F):5'- TCCCAGTATTCAGGGAGGTCAG -3'
(R):5'- GTTGGAAGAGACCTTGACTCTCTAC -3'
Posted On 2015-04-30