Incidental Mutation 'IGL03334:9930111J21Rik1'
ID 416949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 9930111J21Rik1
Ensembl Gene ENSMUSG00000069893
Gene Name RIKEN cDNA 9930111J21 gene 1
Synonyms 9930111J21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL03334
Quality Score
Status
Chromosome 11
Chromosomal Location 48836977-48870208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48838302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 762 (F762L)
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 probably benign
Transcript: ENSMUST00000097494
AA Change: F762L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: F762L

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I possibly 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
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
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
Posted On 2016-08-02