Incidental Mutation 'R6971:2210408I21Rik'
ID 542268
Institutional Source Beutler Lab
Gene Symbol 2210408I21Rik
Ensembl Gene ENSMUSG00000071252
Gene Name RIKEN cDNA 2210408I21 gene
Synonyms
MMRRC Submission 045081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6971 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 77283659-77761903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77341306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 52 (S52G)
Ref Sequence ENSEMBL: ENSMUSP00000153269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168779] [ENSMUST00000225605] [ENSMUST00000225760]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000168779
AA Change: S312G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: S312G

DomainStartEndE-ValueType
low complexity region 121 133 N/A INTRINSIC
low complexity region 151 164 N/A INTRINSIC
Pfam:DUF4495 515 832 1.6e-140 PFAM
low complexity region 1241 1255 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000225605
AA Change: S312G

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225760
AA Change: S52G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.1%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,000,903 (GRCm39) T32S possibly damaging Het
Aadacl4 G A 4: 144,349,303 (GRCm39) V187M probably damaging Het
Adprhl1 T A 8: 13,273,476 (GRCm39) Q1094L probably benign Het
Amigo1 C T 3: 108,095,452 (GRCm39) S317L probably benign Het
Brca1 A G 11: 101,424,831 (GRCm39) F32L probably benign Het
C1qtnf7 T A 5: 43,766,392 (GRCm39) probably null Het
Ccdc88c A T 12: 100,920,486 (GRCm39) D378E probably damaging Het
Ccdc97 G T 7: 25,414,384 (GRCm39) Y123* probably null Het
Cdk10 T A 8: 123,954,413 (GRCm39) M46K probably damaging Het
Dsc3 A G 18: 20,099,275 (GRCm39) probably null Het
Ephx3 T A 17: 32,407,177 (GRCm39) N254Y possibly damaging Het
Fnip2 G A 3: 79,388,428 (GRCm39) R768* probably null Het
Glra1 A T 11: 55,427,325 (GRCm39) Y3* probably null Het
Gltpd2 A G 11: 70,411,290 (GRCm39) T194A probably damaging Het
Hectd1 A T 12: 51,795,526 (GRCm39) L2301* probably null Het
Hmcn1 T A 1: 150,868,802 (GRCm39) M1L probably benign Het
Hmcn2 G A 2: 31,322,333 (GRCm39) E4133K probably benign Het
Hps3 A T 3: 20,065,699 (GRCm39) L714I probably damaging Het
Igfbpl1 A G 4: 45,816,333 (GRCm39) V164A possibly damaging Het
Ip6k2 T C 9: 108,674,510 (GRCm39) probably benign Het
Itgb8 A T 12: 119,154,366 (GRCm39) Y224N probably damaging Het
Kcnt2 T C 1: 140,440,646 (GRCm39) L624S probably benign Het
Mdga2 A G 12: 66,597,335 (GRCm39) Y720H probably damaging Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Msl2 T C 9: 100,978,042 (GRCm39) F139L probably benign Het
Nuggc T C 14: 65,846,305 (GRCm39) V72A probably benign Het
Or9k2b A T 10: 130,016,638 (GRCm39) V37E possibly damaging Het
Pde2a T A 7: 101,159,520 (GRCm39) Y783* probably null Het
Pfkfb2 A G 1: 130,628,533 (GRCm39) Y358H probably damaging Het
Pou2f1 A G 1: 165,759,258 (GRCm39) S23P probably damaging Het
Prrc2a T C 17: 35,378,477 (GRCm39) probably null Het
Prss36 T C 7: 127,544,410 (GRCm39) T92A probably benign Het
Rnft2 A G 5: 118,332,635 (GRCm39) probably benign Het
Sbno2 A G 10: 79,895,868 (GRCm39) V971A possibly damaging Het
Sec63 A G 10: 42,659,438 (GRCm39) E42G probably damaging Het
Setdb2 A T 14: 59,653,189 (GRCm39) L371Q probably damaging Het
Shprh A T 10: 11,042,437 (GRCm39) I807F probably damaging Het
Slc3a2 T C 19: 8,686,974 (GRCm39) probably null Het
Srbd1 T C 17: 86,406,718 (GRCm39) I556V possibly damaging Het
Stim2 T A 5: 54,275,641 (GRCm39) C605* probably null Het
Tecrl T C 5: 83,502,649 (GRCm39) T67A possibly damaging Het
Ttc33 C A 15: 5,241,523 (GRCm39) A116E probably damaging Het
Ttn G A 2: 76,772,393 (GRCm39) T2503I possibly damaging Het
Ubp1 T C 9: 113,801,831 (GRCm39) I468T probably damaging Het
Urgcp A T 11: 5,668,115 (GRCm39) H74Q probably benign Het
Vcan A G 13: 89,826,252 (GRCm39) I2224T probably damaging Het
Vmn1r8 T A 6: 57,013,400 (GRCm39) N150K probably damaging Het
Vmn2r3 A G 3: 64,166,668 (GRCm39) M821T probably damaging Het
Zfp777 C A 6: 48,001,625 (GRCm39) A866S probably damaging Het
Other mutations in 2210408I21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:2210408I21Rik APN 13 77,471,477 (GRCm39) splice site probably benign
IGL01154:2210408I21Rik APN 13 77,429,213 (GRCm39) missense probably benign 0.01
IGL01461:2210408I21Rik APN 13 77,429,214 (GRCm39) missense probably benign 0.25
IGL01624:2210408I21Rik APN 13 77,341,205 (GRCm39) missense probably damaging 0.99
IGL02033:2210408I21Rik APN 13 77,407,995 (GRCm39) missense possibly damaging 0.90
IGL02621:2210408I21Rik APN 13 77,408,150 (GRCm39) missense possibly damaging 0.92
IGL02718:2210408I21Rik APN 13 77,322,991 (GRCm39) missense probably damaging 1.00
IGL02823:2210408I21Rik APN 13 77,410,074 (GRCm39) missense probably damaging 0.96
IGL02859:2210408I21Rik APN 13 77,415,818 (GRCm39) missense possibly damaging 0.71
IGL03006:2210408I21Rik APN 13 77,471,891 (GRCm39) critical splice donor site probably null
IGL03072:2210408I21Rik APN 13 77,408,116 (GRCm39) missense probably benign
IGL03184:2210408I21Rik APN 13 77,471,570 (GRCm39) missense possibly damaging 0.63
IGL03275:2210408I21Rik APN 13 77,446,674 (GRCm39) missense possibly damaging 0.71
PIT4651001:2210408I21Rik UTSW 13 77,408,014 (GRCm39) missense probably benign
R0226:2210408I21Rik UTSW 13 77,451,544 (GRCm39) missense possibly damaging 0.86
R0323:2210408I21Rik UTSW 13 77,446,674 (GRCm39) missense possibly damaging 0.71
R0614:2210408I21Rik UTSW 13 77,340,782 (GRCm39) missense probably benign 0.26
R0894:2210408I21Rik UTSW 13 77,471,726 (GRCm39) missense probably benign 0.18
R1165:2210408I21Rik UTSW 13 77,482,406 (GRCm39) missense probably benign 0.06
R1509:2210408I21Rik UTSW 13 77,340,766 (GRCm39) missense probably benign
R1711:2210408I21Rik UTSW 13 77,418,039 (GRCm39) missense possibly damaging 0.93
R1714:2210408I21Rik UTSW 13 77,464,479 (GRCm39) missense possibly damaging 0.86
R1718:2210408I21Rik UTSW 13 77,393,489 (GRCm39) intron probably benign
R1836:2210408I21Rik UTSW 13 77,471,493 (GRCm39) missense probably benign 0.00
R1893:2210408I21Rik UTSW 13 77,415,928 (GRCm39) missense possibly damaging 0.93
R2035:2210408I21Rik UTSW 13 77,760,761 (GRCm39) makesense probably null
R2329:2210408I21Rik UTSW 13 77,451,444 (GRCm39) missense probably benign 0.04
R2897:2210408I21Rik UTSW 13 77,471,640 (GRCm39) missense probably benign 0.33
R3688:2210408I21Rik UTSW 13 77,415,968 (GRCm39) missense possibly damaging 0.52
R4153:2210408I21Rik UTSW 13 77,341,292 (GRCm39) missense probably benign 0.00
R4387:2210408I21Rik UTSW 13 77,464,693 (GRCm39) critical splice donor site probably null
R4388:2210408I21Rik UTSW 13 77,464,693 (GRCm39) critical splice donor site probably null
R4499:2210408I21Rik UTSW 13 77,464,646 (GRCm39) missense possibly damaging 0.96
R4614:2210408I21Rik UTSW 13 77,402,375 (GRCm39) splice site probably null
R4798:2210408I21Rik UTSW 13 77,471,843 (GRCm39) missense possibly damaging 0.96
R4943:2210408I21Rik UTSW 13 77,393,446 (GRCm39) missense possibly damaging 0.86
R5045:2210408I21Rik UTSW 13 77,415,927 (GRCm39) splice site probably null
R5387:2210408I21Rik UTSW 13 77,408,092 (GRCm39) missense probably benign 0.11
R5500:2210408I21Rik UTSW 13 77,451,508 (GRCm39) missense probably benign 0.33
R5686:2210408I21Rik UTSW 13 77,451,433 (GRCm39) missense possibly damaging 0.72
R6111:2210408I21Rik UTSW 13 77,476,021 (GRCm39) missense possibly damaging 0.72
R6135:2210408I21Rik UTSW 13 77,402,335 (GRCm39) missense probably damaging 0.98
R6188:2210408I21Rik UTSW 13 77,331,850 (GRCm39) missense possibly damaging 0.53
R6388:2210408I21Rik UTSW 13 77,410,230 (GRCm39) missense probably benign
R6588:2210408I21Rik UTSW 13 77,340,766 (GRCm39) missense probably benign
R6632:2210408I21Rik UTSW 13 77,429,186 (GRCm39) missense possibly damaging 0.86
R6638:2210408I21Rik UTSW 13 77,451,521 (GRCm39) missense probably benign 0.07
R6755:2210408I21Rik UTSW 13 77,475,994 (GRCm39) missense probably benign
R7079:2210408I21Rik UTSW 13 77,402,323 (GRCm39) missense possibly damaging 0.86
R7130:2210408I21Rik UTSW 13 77,418,021 (GRCm39) missense possibly damaging 0.93
R7215:2210408I21Rik UTSW 13 77,471,690 (GRCm39) missense possibly damaging 0.96
R7272:2210408I21Rik UTSW 13 77,471,655 (GRCm39) missense probably benign 0.00
R7331:2210408I21Rik UTSW 13 77,331,728 (GRCm39) missense possibly damaging 0.53
R7561:2210408I21Rik UTSW 13 77,341,314 (GRCm39) missense probably benign
R7684:2210408I21Rik UTSW 13 77,760,659 (GRCm39) nonsense probably null
R7728:2210408I21Rik UTSW 13 77,464,596 (GRCm39) missense possibly damaging 0.96
R7881:2210408I21Rik UTSW 13 77,471,685 (GRCm39) missense possibly damaging 0.53
R7963:2210408I21Rik UTSW 13 77,340,673 (GRCm39) missense probably benign 0.02
R8008:2210408I21Rik UTSW 13 77,429,234 (GRCm39) missense probably benign 0.28
R8024:2210408I21Rik UTSW 13 77,760,713 (GRCm39) missense probably benign
R8170:2210408I21Rik UTSW 13 77,411,713 (GRCm39) missense probably benign 0.06
R8201:2210408I21Rik UTSW 13 77,341,278 (GRCm39) missense possibly damaging 0.72
R8255:2210408I21Rik UTSW 13 77,415,850 (GRCm39) missense possibly damaging 0.71
R8296:2210408I21Rik UTSW 13 77,415,896 (GRCm39) missense probably damaging 0.98
R8476:2210408I21Rik UTSW 13 77,410,020 (GRCm39) missense possibly damaging 0.92
R8526:2210408I21Rik UTSW 13 77,417,935 (GRCm39) nonsense probably null
R8746:2210408I21Rik UTSW 13 77,451,529 (GRCm39) missense probably benign 0.01
R8812:2210408I21Rik UTSW 13 77,480,471 (GRCm39) missense probably damaging 0.98
R8870:2210408I21Rik UTSW 13 77,471,840 (GRCm39) missense possibly damaging 0.96
R8885:2210408I21Rik UTSW 13 77,471,525 (GRCm39) missense possibly damaging 0.91
R8910:2210408I21Rik UTSW 13 77,471,768 (GRCm39) missense probably benign 0.03
R8911:2210408I21Rik UTSW 13 77,429,234 (GRCm39) missense probably benign 0.28
R8965:2210408I21Rik UTSW 13 77,760,723 (GRCm39) missense probably benign 0.02
R8968:2210408I21Rik UTSW 13 77,480,429 (GRCm39) nonsense probably null
R8989:2210408I21Rik UTSW 13 77,760,724 (GRCm39) missense probably benign 0.01
R9163:2210408I21Rik UTSW 13 77,393,400 (GRCm39) missense possibly damaging 0.73
R9378:2210408I21Rik UTSW 13 77,471,735 (GRCm39) missense possibly damaging 0.53
R9478:2210408I21Rik UTSW 13 77,451,573 (GRCm39) missense possibly damaging 0.53
R9523:2210408I21Rik UTSW 13 77,407,988 (GRCm39) missense possibly damaging 0.53
R9595:2210408I21Rik UTSW 13 77,464,566 (GRCm39) missense probably benign
X0066:2210408I21Rik UTSW 13 77,331,759 (GRCm39) missense possibly damaging 0.72
Z1088:2210408I21Rik UTSW 13 77,323,010 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTCGTGCAACAGAGAATCAG -3'
(R):5'- ATGAGCGGAAAACTCTTTCAAG -3'

Sequencing Primer
(F):5'- GTGTGTGGATACCAAAGTACTATGC -3'
(R):5'- CAAGAGTTGATTTACGCTCTGG -3'
Posted On 2018-11-28