Incidental Mutation 'R5611:9930111J21Rik2'
ID 438038
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik2
Ensembl Gene ENSMUSG00000069892
Gene Name RIKEN cDNA 9930111J21 gene 2
Synonyms
MMRRC Submission 043273-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5611 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 48928487-48942069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 48910828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 535 (T535R)
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 possibly damaging
Transcript: ENSMUST00000101295
AA Change: T535R

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098853
Gene: ENSMUSG00000069892
AA Change: T535R

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,104,749 (GRCm39) F299I probably benign Het
Adamts20 A G 15: 94,171,161 (GRCm39) M1854T possibly damaging Het
Adrm1b G A 3: 92,335,758 (GRCm39) P315S probably damaging Het
Apbb1 A G 7: 105,208,690 (GRCm39) V581A probably damaging Het
Apol6 T A 15: 76,935,240 (GRCm39) probably null Het
Arhgef37 T C 18: 61,640,334 (GRCm39) T242A probably benign Het
Asxl2 T C 12: 3,534,598 (GRCm39) V265A probably damaging Het
Bicd1 A T 6: 149,414,954 (GRCm39) R556* probably null Het
C2 A G 17: 35,091,360 (GRCm39) I101T probably damaging Het
Cd22 T A 7: 30,577,575 (GRCm39) probably benign Het
Cd33 T C 7: 43,181,542 (GRCm39) H206R probably damaging Het
Cd5l G A 3: 87,275,082 (GRCm39) G207D possibly damaging Het
Chrd A T 16: 20,557,724 (GRCm39) D774V probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Csn1s1 A T 5: 87,825,503 (GRCm39) probably null Het
Dpyd G A 3: 118,987,942 (GRCm39) V704I probably benign Het
Dscc1 C A 15: 54,945,569 (GRCm39) Q312H probably benign Het
Dysf A T 6: 84,041,860 (GRCm39) T154S probably damaging Het
Foxi2 T C 7: 135,013,433 (GRCm39) V221A probably benign Het
Gabbr2 A T 4: 46,804,105 (GRCm39) I250N probably damaging Het
Gfap T A 11: 102,787,895 (GRCm39) T17S probably benign Het
Hcrtr2 A G 9: 76,230,596 (GRCm39) V64A probably damaging Het
Igkv4-86 A G 6: 68,887,659 (GRCm39) S27P probably damaging Het
Kalrn G T 16: 33,996,150 (GRCm39) F903L probably damaging Het
Lrrc31 A G 3: 30,745,304 (GRCm39) probably null Het
Mlh3 T C 12: 85,314,219 (GRCm39) T656A probably benign Het
Mss51 G T 14: 20,533,174 (GRCm39) S432R possibly damaging Het
Mzf1 A G 7: 12,778,554 (GRCm39) probably benign Het
Nop58 T A 1: 59,749,672 (GRCm39) probably benign Het
Or10al5 A T 17: 38,062,975 (GRCm39) I77F possibly damaging Het
Otogl T C 10: 107,622,630 (GRCm39) E1652G probably damaging Het
Pikfyve C A 1: 65,295,247 (GRCm39) N1459K probably damaging Het
Pkn3 G A 2: 29,969,673 (GRCm39) G61D probably damaging Het
Plekha4 T C 7: 45,203,065 (GRCm39) S581P probably benign Het
Ppm1g A G 5: 31,363,441 (GRCm39) F256L probably damaging Het
Proser1 A G 3: 53,386,296 (GRCm39) N726S probably benign Het
Rapgef1 A G 2: 29,592,448 (GRCm39) D480G probably damaging Het
Reln G A 5: 22,244,663 (GRCm39) Q772* probably null Het
Sh3gl2 T C 4: 85,273,568 (GRCm39) V40A probably benign Het
Slc22a23 G A 13: 34,489,222 (GRCm39) T221I probably benign Het
Slc22a28 T A 19: 8,040,698 (GRCm39) T518S probably damaging Het
Slc4a1ap A G 5: 31,711,173 (GRCm39) probably benign Het
St8sia4 T C 1: 95,555,409 (GRCm39) D207G probably damaging Het
Syde1 T A 10: 78,421,725 (GRCm39) T609S probably benign Het
Tbc1d5 A G 17: 51,042,995 (GRCm39) I831T probably damaging Het
Tle4 T C 19: 14,427,159 (GRCm39) D754G probably damaging Het
Ttn C T 2: 76,562,869 (GRCm39) W26949* probably null Het
Vmn1r222 A C 13: 23,416,743 (GRCm39) S157A probably damaging Het
Vmn1r51 T A 6: 90,106,692 (GRCm39) L203M probably benign Het
Vmn1r6 T C 6: 56,979,362 (GRCm39) L8P probably damaging Het
Vmn2r103 A G 17: 20,013,904 (GRCm39) D232G probably damaging Het
Vmn2r17 T A 5: 109,576,030 (GRCm39) D300E probably damaging Het
Vmn2r66 T A 7: 84,654,951 (GRCm39) K453* probably null Het
Vps13a A T 19: 16,702,936 (GRCm39) D672E probably damaging Het
Vps54 A G 11: 21,261,130 (GRCm39) N599S possibly damaging Het
Zc3h13 A T 14: 75,568,348 (GRCm39) N1214Y probably benign Het
Zc3h18 T G 8: 123,135,109 (GRCm39) probably null Het
Zfp51 A G 17: 21,684,354 (GRCm39) E323G 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
R4034:9930111J21Rik2 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
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'- TGAAAGACCTAGGTTTACTCCTC -3'
(R):5'- AGCCCCACTGAACATTGCTG -3'

Sequencing Primer
(F):5'- TCTTGGTTCGGACAAAGTAGAAC -3'
(R):5'- CCACTGAACATTGCTGTGACTGG -3'
Posted On 2016-10-26