Incidental Mutation 'R3688:2210408I21Rik'
ID 269634
Institutional Source Beutler Lab
Gene Symbol 2210408I21Rik
Ensembl Gene ENSMUSG00000071252
Gene Name RIKEN cDNA 2210408I21 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3688 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 77283659-77761903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77415968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 687 (I687T)
Ref Sequence ENSEMBL: ENSMUSP00000127449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168779]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000168779
AA Change: I687T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: I687T

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,888,569 (GRCm39) F100I probably damaging Het
Adam12 A T 7: 133,566,525 (GRCm39) Y308* probably null Het
Adam3 T C 8: 25,193,864 (GRCm39) T383A probably benign Het
Adcy8 T C 15: 64,743,556 (GRCm39) T351A probably damaging Het
Atp11c T C X: 59,327,004 (GRCm39) Y431C probably benign Het
Atp7b T C 8: 22,494,246 (GRCm39) H956R probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Cept1 G T 3: 106,427,331 (GRCm39) N236K probably benign Het
Col15a1 C T 4: 47,258,689 (GRCm39) T360I probably benign Het
Efcab6 G A 15: 83,755,479 (GRCm39) Q1323* probably null Het
Efl1 T A 7: 82,412,178 (GRCm39) S856T probably benign Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Fat2 T C 11: 55,171,927 (GRCm39) T2929A probably damaging Het
Gm4884 A G 7: 40,692,910 (GRCm39) H293R possibly damaging Het
Hdac10 C T 15: 89,007,767 (GRCm39) probably null Het
Il17rd C A 14: 26,761,105 (GRCm39) N15K probably null Het
Kcnt1 C T 2: 25,784,371 (GRCm39) T258I probably damaging Het
Kif5a T G 10: 127,078,643 (GRCm39) N334T probably damaging Het
Ksr2 A G 5: 117,693,044 (GRCm39) Q164R probably damaging Het
Map4k4 T A 1: 40,024,331 (GRCm39) probably null Het
Naa80 T C 9: 107,460,549 (GRCm39) V148A possibly damaging Het
Or9a2 G T 6: 41,749,160 (GRCm39) Y24* probably null Het
Pard3b A G 1: 62,518,728 (GRCm39) T938A probably benign Het
Pcdhga6 T A 18: 37,841,594 (GRCm39) I438N probably damaging Het
Pfkm T A 15: 98,029,398 (GRCm39) N697K probably benign Het
Prr23a4 A T 9: 98,785,517 (GRCm39) M61L probably benign Het
Pus10 T C 11: 23,617,334 (GRCm39) F16L probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rangap1 A T 15: 81,602,963 (GRCm39) M154K possibly damaging Het
Slc25a17 A G 15: 81,211,485 (GRCm39) F177S probably benign Het
Slc34a2 G A 5: 53,222,174 (GRCm39) G289S probably benign Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Swt1 A T 1: 151,267,240 (GRCm39) M647K probably damaging Het
Trpm5 A G 7: 142,632,193 (GRCm39) V872A probably damaging Het
Ubqln4 T C 3: 88,470,466 (GRCm39) S313P probably damaging Het
Vmn1r17 T A 6: 57,337,544 (GRCm39) T225S probably damaging Het
Vmn2r75 T A 7: 85,797,629 (GRCm39) H728L probably damaging Het
Vps33a T C 5: 123,673,274 (GRCm39) probably null Het
Vwde T A 6: 13,186,891 (GRCm39) R865S probably damaging Het
Zfp408 T A 2: 91,476,777 (GRCm39) M126L 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
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
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'- AAGATGCTCCTTCGCCATCC -3'
(R):5'- CTAGCATGCAACTGTAAGGCAAAG -3'

Sequencing Primer
(F):5'- GCCATCCAGATGTGGCATTAC -3'
(R):5'- AGGGACTCACTCGGATCCAAG -3'
Posted On 2015-02-19