Incidental Mutation 'R3714:9930111J21Rik1'
ID 259804
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik1
Ensembl Gene ENSMUSG00000069893
Gene Name RIKEN cDNA 9930111J21 gene 1
Synonyms 9930111J21Rik
MMRRC Submission 040707-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R3714 (G1)
Quality Score 174
Status Not validated
Chromosome 11
Chromosomal Location 48836977-48870208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48838803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 595 (T595A)
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: T595A

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: T595A

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
Meta Mutation Damage Score 0.5383 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adck5 G A 15: 76,478,138 (GRCm39) V229I probably damaging Het
Afg2a G A 3: 37,487,358 (GRCm39) V407I probably benign Het
Ankk1 T G 9: 49,333,013 (GRCm39) D157A possibly damaging Het
Atp1a2 A G 1: 172,106,551 (GRCm39) I817T probably damaging Het
Ccdc87 A G 19: 4,890,287 (GRCm39) S260G probably benign Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Cibar2 C T 8: 120,901,576 (GRCm39) R43H probably damaging Het
Cntnap5c C T 17: 58,199,062 (GRCm39) Q119* probably null Het
Cpb2 T A 14: 75,520,657 (GRCm39) probably null Het
Ddx47 T A 6: 134,996,025 (GRCm39) I329K probably damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Fcsk G T 8: 111,613,891 (GRCm39) D723E probably damaging Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Garem1 T A 18: 21,281,947 (GRCm39) E136D probably damaging Het
Haus6 A G 4: 86,521,104 (GRCm39) I178T probably benign Het
Igkv3-2 T G 6: 70,675,480 (GRCm39) V10G possibly damaging Het
Jrkl A C 9: 13,244,236 (GRCm39) I475R possibly damaging Het
Lcmt1 C T 7: 123,003,683 (GRCm39) H146Y probably damaging Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Mb A G 15: 76,901,789 (GRCm39) V102A probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Mroh2b A G 15: 4,973,131 (GRCm39) I1045V probably benign Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndufs7 T C 10: 80,088,255 (GRCm39) I14T probably benign Het
Nlrp4b T C 7: 10,448,808 (GRCm39) V337A probably benign Het
Npm2 T C 14: 70,890,060 (GRCm39) probably null Het
Or10ab4 T C 7: 107,654,642 (GRCm39) F151S probably damaging Het
Or2h2c A G 17: 37,422,227 (GRCm39) Y216H probably damaging Het
Or4a68 G A 2: 89,269,727 (GRCm39) L299F probably damaging Het
Prdm9 T A 17: 15,777,623 (GRCm39) K154* probably null Het
Prkch C T 12: 73,822,290 (GRCm39) P630S probably damaging Het
Ptprn T C 1: 75,229,411 (GRCm39) probably null Het
Rnf31 T A 14: 55,840,851 (GRCm39) D884E probably damaging Het
Semp2l2a T G 8: 13,886,736 (GRCm39) I452L probably benign Het
Slc22a27 A T 19: 7,903,815 (GRCm39) N107K possibly damaging Het
Tln1 G T 4: 43,540,597 (GRCm39) A1468D probably damaging Het
Tmem185b T A 1: 119,454,781 (GRCm39) F181I possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trappc11 T C 8: 47,958,351 (GRCm39) probably benign Het
Vmn1r218 A T 13: 23,321,081 (GRCm39) N63Y probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging 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
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
R6774:9930111J21Rik1 UTSW 11 48,838,143 (GRCm39) missense possibly damaging 0.94
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'- TCATGAAGAGGTGGCGCTTG -3'
(R):5'- TTGCCTGGCATTGGGTCTAC -3'

Sequencing Primer
(F):5'- CTCAGTAGGGTGGTCTCCAG -3'
(R):5'- GGTCTACTACCTTCCCACCAC -3'
Posted On 2015-01-23