Incidental Mutation 'R9687:9930111J21Rik1'
ID 728923
Institutional Source Beutler Lab
Gene Symbol 9930111J21Rik1
Ensembl Gene ENSMUSG00000069893
Gene Name RIKEN cDNA 9930111J21 gene 1
Synonyms 9930111J21Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R9687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 48836977-48870208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48839249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 446 (L446P)
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 damaging
Transcript: ENSMUST00000097494
AA Change: L446P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095102
Gene: ENSMUSG00000069893
AA Change: L446P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,578,889 (GRCm39) T927A probably benign Het
Abraxas2 A G 7: 132,482,577 (GRCm39) T258A probably benign Het
Akna A T 4: 63,292,674 (GRCm39) C1078* probably null Het
Arhgap24 T A 5: 102,994,022 (GRCm39) F34L probably benign Het
Cpa5 C T 6: 30,614,041 (GRCm39) T61I probably benign Het
Crebrf A G 17: 26,982,601 (GRCm39) *654W probably null Het
Dchs1 C A 7: 105,407,191 (GRCm39) R2134L probably damaging Het
Dcps T C 9: 35,035,978 (GRCm39) N303D probably damaging Het
Ddhd1 C T 14: 45,848,190 (GRCm39) E527K probably damaging Het
Dnah14 T A 1: 181,425,978 (GRCm39) M174K probably benign Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Entrep1 A G 19: 23,957,029 (GRCm39) I327T probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etv1 T C 12: 38,911,361 (GRCm39) Y396H probably damaging Het
Fbxo11 A G 17: 88,316,494 (GRCm39) I293T Het
Gcfc2 T A 6: 81,918,323 (GRCm39) S338T probably damaging Het
Gm10272 T C 10: 77,542,764 (GRCm39) V102A possibly damaging Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gna14 G A 19: 16,582,350 (GRCm39) R206Q Het
Gpm6a T C 8: 55,503,209 (GRCm39) Y153H possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
H2-M10.6 G A 17: 37,125,147 (GRCm39) V313I probably benign Het
Igkv8-19 T C 6: 70,318,005 (GRCm39) I74V probably benign Het
Kif24 A G 4: 41,428,546 (GRCm39) L138P probably damaging Het
Kif26a A G 12: 112,143,625 (GRCm39) E1293G probably damaging Het
Lrp1 A C 10: 127,402,562 (GRCm39) L2203R probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Ncor1 A T 11: 62,260,193 (GRCm39) I519N possibly damaging Het
Obsl1 A G 1: 75,479,670 (GRCm39) V575A probably damaging Het
Or2y15 T C 11: 49,350,518 (GRCm39) F4S probably benign Het
Or5m8 G T 2: 85,822,220 (GRCm39) V20L probably benign Het
Or7a35 T A 10: 78,853,843 (GRCm39) I229N probably damaging Het
Osbpl5 A G 7: 143,247,598 (GRCm39) Y747H possibly damaging Het
Pcdh18 T A 3: 49,711,036 (GRCm39) D93V probably damaging Het
Ppef2 T A 5: 92,386,746 (GRCm39) D397V probably benign Het
Ppfia4 G A 1: 134,245,694 (GRCm39) T620I probably benign Het
Ppp1r9a T C 6: 4,905,978 (GRCm39) S178P probably damaging Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Pxk A G 14: 8,151,567 (GRCm38) I461V possibly damaging Het
Rab18 T A 18: 6,784,622 (GRCm39) N104K probably benign Het
Sars1 A G 3: 108,343,221 (GRCm39) L90P probably benign Het
Scaf8 T A 17: 3,221,410 (GRCm39) I299N unknown Het
Sh3bp2 C T 5: 34,716,977 (GRCm39) P463S probably benign Het
Slc12a3 A G 8: 95,075,208 (GRCm39) N734S possibly damaging Het
Slc12a7 G T 13: 73,938,796 (GRCm39) R191L probably damaging Het
Slc7a12 A G 3: 14,545,960 (GRCm39) Y35C possibly damaging Het
Spmip2 G A 3: 79,337,299 (GRCm39) D36N possibly damaging Het
Susd4 A G 1: 182,722,762 (GRCm39) probably null Het
Taar7f G A 10: 23,925,727 (GRCm39) R107K probably benign Het
Tarm1 T C 7: 3,544,457 (GRCm39) T237A probably benign Het
Tshr C A 12: 91,504,439 (GRCm39) A459E probably damaging Het
Tubgcp5 G T 7: 55,475,327 (GRCm39) probably null Het
Unc13b T C 4: 43,174,920 (GRCm39) V1916A unknown Het
Unc45b A G 11: 82,810,562 (GRCm39) D274G probably damaging Het
Vmn1r230 T A 17: 21,067,604 (GRCm39) Y264* probably null Het
Vmn2r109 G T 17: 20,775,332 (GRCm39) Q132K Het
Zbtb20 A G 16: 43,430,160 (GRCm39) S151G possibly damaging Het
Zbtb22 A C 17: 34,136,850 (GRCm39) T332P probably damaging Het
Zc3h6 A G 2: 128,859,281 (GRCm39) D1104G probably damaging Het
Zfp748 A G 13: 67,690,471 (GRCm39) V263A probably benign Het
Zhx3 A C 2: 160,623,678 (GRCm39) V163G 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
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
X0067:9930111J21Rik1 UTSW 11 48,838,869 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCAAGGCATTGATAAAGCTGG -3'
(R):5'- AGTAATGGTGTCAGCAGCTG -3'

Sequencing Primer
(F):5'- GATAAAGCTGGATTTTCCTGTCC -3'
(R):5'- TAATGGTGTCAGCAGCTGAGCTC -3'
Posted On 2022-10-06