Incidental Mutation 'R6774:9930111J21Rik1'
ID 532300
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik1
Ensembl Gene ENSMUSG00000069893
Gene Name RIKEN cDNA 9930111J21 gene 1
Synonyms 9930111J21Rik
MMRRC Submission 044890-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6774 (G1)
Quality Score 185.009
Status Not validated
Chromosome 11
Chromosomal Location 48836977-48870208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48838143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 815 (S815P)
Ref Sequence ENSEMBL: ENSMUSP00000095102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059930] [ENSMUST00000097494] [ENSMUST00000104958]
AlphaFold Q5SVP0
Predicted Effect probably benign
Transcript: ENSMUST00000059930
SMART Domains Protein: ENSMUSP00000054351
Gene: ENSMUSG00000048852

DomainStartEndE-ValueType
Pfam:IIGP 27 389 8.4e-123 PFAM
Pfam:MMR_HSR1 63 190 2.2e-9 PFAM
low complexity region 421 432 N/A INTRINSIC
Pfam:IIGP 438 811 3.4e-152 PFAM
Pfam:MMR_HSR1 474 632 1.4e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097494
AA Change: S815P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: S815P

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 1.9e-153 PFAM
Pfam:MMR_HSR1 483 611 3.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000104958
SMART Domains Protein: ENSMUSP00000100564
Gene: ENSMUSG00000078153

DomainStartEndE-ValueType
Pfam:PA28_alpha 11 71 1.2e-26 PFAM
Pfam:PA28_beta 93 237 5.3e-58 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,908 (GRCm39) I822N probably damaging Het
A430033K04Rik A G 5: 138,644,712 (GRCm39) Y199C probably benign Het
Adam34l T A 8: 44,078,220 (GRCm39) H668L probably benign Het
Afap1l1 A T 18: 61,888,732 (GRCm39) V113E probably benign Het
Ahnak2 C T 12: 112,740,172 (GRCm39) C494Y possibly damaging Het
Atr A T 9: 95,809,266 (GRCm39) E1981D probably benign Het
Bmp7 A G 2: 172,714,751 (GRCm39) Y353H probably damaging Het
Capn11 C T 17: 45,968,256 (GRCm39) probably benign Het
Ccdc103 T C 11: 102,773,519 (GRCm39) F47S probably damaging Het
Cmas A G 6: 142,710,147 (GRCm39) Y130C possibly damaging Het
Cntn5 T C 9: 10,144,222 (GRCm39) Y149C probably damaging Het
Col12a1 A C 9: 79,613,619 (GRCm39) S75R possibly damaging Het
Crat G A 2: 30,303,195 (GRCm39) H31Y probably damaging Het
Dnah7a A G 1: 53,737,810 (GRCm39) V41A probably benign Het
F5 C T 1: 164,014,447 (GRCm39) R573C probably damaging Het
Gcc2 A G 10: 58,117,261 (GRCm39) N1170S possibly damaging Het
Gm29666 A T 15: 84,798,260 (GRCm39) C100* probably null Het
Gm3573 A T 14: 42,009,472 (GRCm39) Y158N possibly damaging Het
Gtf3c1 G T 7: 125,240,793 (GRCm39) A1968E possibly damaging Het
Heg1 C A 16: 33,558,638 (GRCm39) T815K probably damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Kif17 A G 4: 138,002,306 (GRCm39) Y170C probably damaging Het
Kti12 G A 4: 108,705,652 (GRCm39) G189R probably benign Het
Lrp4 G A 2: 91,341,849 (GRCm39) A1821T probably benign Het
Mamdc4 T C 2: 25,456,948 (GRCm39) I610V probably benign Het
Mmp1b T C 9: 7,387,914 (GRCm39) K27E probably benign Het
Mob4 A G 1: 55,187,588 (GRCm39) probably null Het
Myc G A 15: 61,860,128 (GRCm39) probably null Het
Myo5c A T 9: 75,196,468 (GRCm39) I1305F probably benign Het
Nprl3 A G 11: 32,187,381 (GRCm39) V292A probably damaging Het
Ntng2 T C 2: 29,087,102 (GRCm39) T373A probably damaging Het
Or1f19 T A 16: 3,410,380 (GRCm39) V40D probably damaging Het
Or4a67 C T 2: 88,598,228 (GRCm39) V144I probably benign Het
Or5p50 T A 7: 107,422,395 (GRCm39) T94S probably benign Het
Or7e171-ps1 A T 9: 19,853,070 (GRCm39) L222H unknown Het
Pard3 T C 8: 128,137,228 (GRCm39) L859P probably damaging Het
Ppcs T C 4: 119,276,285 (GRCm39) D100G probably damaging Het
Prkdc G T 16: 15,543,325 (GRCm39) probably null Het
Pwwp2b T C 7: 138,835,903 (GRCm39) V448A probably benign Het
Rapgef4 A G 2: 72,056,119 (GRCm39) K624R probably benign Het
Spata31e5 A T 1: 28,815,974 (GRCm39) I686N probably benign Het
Synj2 C T 17: 6,088,290 (GRCm39) S1447L possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tnxb C A 17: 34,928,606 (GRCm39) Y2673* probably null Het
Trim27 T A 13: 21,376,624 (GRCm39) H457Q probably damaging Het
Trim72 T G 7: 127,609,558 (GRCm39) F453L probably damaging Het
Ubr5 A T 15: 38,015,379 (GRCm39) M877K probably damaging Het
Usp10 T C 8: 120,678,711 (GRCm39) L564P probably benign Het
Usp54 A G 14: 20,627,296 (GRCm39) V454A probably damaging Het
Uspl1 T A 5: 149,150,904 (GRCm39) D701E probably benign Het
Vmn2r103 A G 17: 19,993,773 (GRCm39) H50R probably benign Het
Zfp35 G A 18: 24,136,015 (GRCm39) V120I possibly damaging Het
Zfp712 T C 13: 67,189,568 (GRCm39) T320A probably benign Het
Other mutations in 9930111J21Rik1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:9930111J21Rik1 APN 11 48,839,039 (GRCm39) missense possibly damaging 0.66
IGL02189:9930111J21Rik1 APN 11 48,838,248 (GRCm39) missense probably benign 0.09
IGL02554:9930111J21Rik1 APN 11 48,838,830 (GRCm39) missense probably damaging 1.00
IGL03172:9930111J21Rik1 APN 11 48,839,003 (GRCm39) missense probably damaging 1.00
IGL03334:9930111J21Rik1 APN 11 48,838,302 (GRCm39) missense probably benign 0.09
R0502:9930111J21Rik1 UTSW 11 48,838,322 (GRCm39) missense possibly damaging 0.69
R0503:9930111J21Rik1 UTSW 11 48,838,322 (GRCm39) missense possibly damaging 0.69
R2023:9930111J21Rik1 UTSW 11 48,839,247 (GRCm39) missense possibly damaging 0.51
R3704:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R3705:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R3714:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R3715:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R3961:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R3962:9930111J21Rik1 UTSW 11 48,838,803 (GRCm39) missense possibly damaging 0.95
R4867:9930111J21Rik1 UTSW 11 48,839,375 (GRCm39) critical splice acceptor site probably null
R5033:9930111J21Rik1 UTSW 11 48,838,533 (GRCm39) missense probably damaging 1.00
R5159:9930111J21Rik1 UTSW 11 48,839,352 (GRCm39) missense probably benign 0.06
R6567:9930111J21Rik1 UTSW 11 48,838,950 (GRCm39) missense probably benign 0.26
R7730:9930111J21Rik1 UTSW 11 48,838,703 (GRCm39) missense probably benign 0.19
R7863:9930111J21Rik1 UTSW 11 48,838,101 (GRCm39) missense probably benign 0.18
R8408:9930111J21Rik1 UTSW 11 48,838,829 (GRCm39) missense probably damaging 1.00
R9381:9930111J21Rik1 UTSW 11 48,839,204 (GRCm39) missense probably damaging 1.00
R9400:9930111J21Rik1 UTSW 11 48,839,244 (GRCm39) missense possibly damaging 0.82
R9493:9930111J21Rik1 UTSW 11 48,838,191 (GRCm39) missense probably damaging 1.00
R9560:9930111J21Rik1 UTSW 11 48,839,082 (GRCm39) missense probably damaging 1.00
R9574:9930111J21Rik1 UTSW 11 48,838,496 (GRCm39) missense probably damaging 1.00
R9687:9930111J21Rik1 UTSW 11 48,839,249 (GRCm39) missense probably damaging 1.00
X0067:9930111J21Rik1 UTSW 11 48,838,869 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCTCCCAGAAAATGTTTGC -3'
(R):5'- TCACTGGAAAACATTGCCAAGG -3'

Sequencing Primer
(F):5'- CCCAGAAAATGTTTGCTGCTTAAAAG -3'
(R):5'- TGCCAAGGATTTCAATGTGTC -3'
Posted On 2018-08-29