Incidental Mutation 'R2329:2210408I21Rik'
ID 245813
Institutional Source Beutler Lab
Gene Symbol 2210408I21Rik
Ensembl Gene ENSMUSG00000071252
Gene Name RIKEN cDNA 2210408I21 gene
Synonyms
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2329 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 77283659-77761903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 77451444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 843 (S843R)
Ref Sequence ENSEMBL: ENSMUSP00000127449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168779]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000168779
AA Change: S843R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: S843R

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 G T 9: 30,813,781 (GRCm39) R795S probably damaging Het
Adora2a T A 10: 75,162,017 (GRCm39) V52E probably damaging Het
Amph T A 13: 19,323,520 (GRCm39) L594Q probably benign Het
Batf3 A T 1: 190,840,646 (GRCm39) probably null Het
Ccdc146 C T 5: 21,513,610 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csn3 A G 5: 88,077,862 (GRCm39) T123A possibly damaging Het
Cspg4 A G 9: 56,795,834 (GRCm39) T1190A probably benign Het
Dab2 C A 15: 6,459,044 (GRCm39) Q298K possibly damaging Het
Dpp6 T C 5: 27,656,286 (GRCm39) probably null Het
Efcab6 C T 15: 83,834,249 (GRCm39) R453Q possibly damaging Het
Ern2 C T 7: 121,772,710 (GRCm39) M610I possibly damaging Het
Fnip1 A G 11: 54,356,933 (GRCm39) D38G probably damaging Het
Fosb T C 7: 19,041,110 (GRCm39) T128A probably benign Het
Gad2 G A 2: 22,558,301 (GRCm39) V340M probably damaging Het
Gm19684 T A 17: 36,439,345 (GRCm39) probably benign Het
Gstk1 T A 6: 42,223,848 (GRCm39) D86E possibly damaging Het
Hus1 A G 11: 8,957,492 (GRCm39) probably null Het
Kbtbd8 T C 6: 95,103,761 (GRCm39) I547T probably benign Het
Mrpl38 T A 11: 116,022,845 (GRCm39) H373L possibly damaging Het
Nostrin A T 2: 68,991,438 (GRCm39) T144S probably damaging Het
Prl8a6 T C 13: 27,621,050 (GRCm39) H60R probably benign Het
Ros1 A G 10: 52,038,983 (GRCm39) I329T probably damaging Het
Scd2 T A 19: 44,286,492 (GRCm39) Y107* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc34a3 T C 2: 25,119,422 (GRCm39) T483A possibly damaging Het
Slc35c1 A T 2: 92,289,040 (GRCm39) Y155* probably null Het
Susd1 T C 4: 59,379,715 (GRCm39) D304G possibly damaging Het
Taf5 C T 19: 47,063,563 (GRCm39) S371L probably benign Het
Tenm4 A G 7: 96,545,069 (GRCm39) T2362A probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Ttn G A 2: 76,599,786 (GRCm39) P19102S probably damaging Het
Ttn A G 2: 76,608,412 (GRCm39) V17837A probably damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Ulk4 C T 9: 121,101,953 (GRCm39) E42K probably damaging Het
Vmn1r184 A T 7: 25,966,387 (GRCm39) L44F probably damaging Het
Zfp932 A T 5: 110,157,406 (GRCm39) H368L probably benign 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
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
R6971:2210408I21Rik UTSW 13 77,341,306 (GRCm39) missense possibly damaging 0.90
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'- CACAAATGCATCTGAAATGGTCATG -3'
(R):5'- AGCTCATATGCATCAACCTTTG -3'

Sequencing Primer
(F):5'- GCATCTGAAATGGTCATGTTGAATG -3'
(R):5'- GCTCATATGCATCAACCTTTGAAAGC -3'
Posted On 2014-10-30