Incidental Mutation 'IGL02718:2210408I21Rik'
ID304855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2210408I21Rik
Ensembl Gene ENSMUSG00000071252
Gene NameRIKEN cDNA 2210408I21 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02718
Quality Score
Status
Chromosome13
Chromosomal Location77135540-77613784 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77174872 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 7 (Y7N)
Ref Sequence ENSEMBL: ENSMUSP00000153525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168779] [ENSMUST00000225605] [ENSMUST00000225960]
Predicted Effect possibly damaging
Transcript: ENSMUST00000168779
AA Change: Y7N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127449
Gene: ENSMUSG00000071252
AA Change: Y7N

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 noncoding transcript
Transcript: ENSMUST00000225012
Predicted Effect possibly damaging
Transcript: ENSMUST00000225605
AA Change: Y7N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000225960
AA Change: Y7N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225992
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,699,904 D41G probably damaging Het
4921507P07Rik G T 6: 50,584,387 T184K probably damaging Het
Atf1 C A 15: 100,254,219 Q151K probably damaging Het
Brdt T C 5: 107,350,068 probably benign Het
Cep295 T C 9: 15,325,753 probably null Het
Ctnnd2 A G 15: 31,027,616 S1229G probably damaging Het
Dcaf15 T A 8: 84,098,376 I476L possibly damaging Het
Dlec1 A G 9: 119,137,286 I1108V probably benign Het
Dnah9 T A 11: 65,886,640 H3694L probably damaging Het
Dock10 A T 1: 80,523,818 D1838E probably benign Het
Dusp12 A T 1: 170,880,657 Y164N probably damaging Het
Ephx1 A G 1: 180,999,786 F101L probably damaging Het
Fbn1 C A 2: 125,369,886 C864F probably damaging Het
Fbxw24 T C 9: 109,624,790 E96G possibly damaging Het
Glt1d1 C A 5: 127,650,699 F78L probably damaging Het
Gm9602 A T 14: 4,776,474 R21* probably null Het
Grip1 T A 10: 120,075,515 *713K probably null Het
Hecw1 T C 13: 14,306,935 probably null Het
Il31ra G A 13: 112,530,369 R392* probably null Het
L3hypdh T G 12: 72,084,856 S101R probably damaging Het
Lpar5 T A 6: 125,082,244 D309E probably damaging Het
Masp1 T C 16: 23,476,293 Y406C probably damaging Het
Mpdz T C 4: 81,385,202 I166M probably damaging Het
Nbea A T 3: 55,632,062 Y2759* probably null Het
Ncf1 A T 5: 134,227,448 probably null Het
Nek5 T G 8: 22,097,463 R314S probably benign Het
Nifk A C 1: 118,327,632 N38T probably damaging Het
Obscn C T 11: 59,077,858 V2772M probably damaging Het
Olfr1367 T C 13: 21,347,384 L152P probably damaging Het
Olfr181 T C 16: 58,926,096 I158M possibly damaging Het
Olfr419 G T 1: 174,250,707 Y73* probably null Het
Olfr584 C A 7: 103,085,583 L22I probably benign Het
Olfr707 A T 7: 106,891,329 M260K probably damaging Het
Olfr979 A T 9: 40,000,886 Y114N probably damaging Het
Pbxip1 A G 3: 89,448,004 E610G probably damaging Het
Pfas G T 11: 69,000,145 probably benign Het
Plk4 T C 3: 40,815,021 S102P probably damaging Het
Ptprz1 C T 6: 23,001,349 T1146I possibly damaging Het
Pum2 T A 12: 8,733,344 S598T probably benign Het
Ric1 T A 19: 29,533,240 W74R probably damaging Het
Riok3 C A 18: 12,152,996 S427* probably null Het
Ros1 A T 10: 52,118,232 D1317E probably damaging Het
Sfmbt2 A G 2: 10,402,031 D47G possibly damaging Het
Slc12a1 C T 2: 125,161,079 R177* probably null Het
Snai3 C A 8: 122,456,122 probably null Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Soat1 A T 1: 156,441,429 S151T probably benign Het
Stbd1 A G 5: 92,603,218 E37G possibly damaging Het
Syt10 A G 15: 89,814,079 I354T probably damaging Het
Trip11 A C 12: 101,886,025 S593R probably benign Het
Ubr1 T C 2: 120,914,883 E908G probably damaging Het
Yy1 T C 12: 108,815,479 F357L probably damaging Het
Other mutations in 2210408I21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:2210408I21Rik APN 13 77323358 splice site probably benign
IGL01154:2210408I21Rik APN 13 77281094 missense probably benign 0.01
IGL01461:2210408I21Rik APN 13 77281095 missense probably benign 0.25
IGL01624:2210408I21Rik APN 13 77193086 missense probably damaging 0.99
IGL02033:2210408I21Rik APN 13 77259876 missense possibly damaging 0.90
IGL02621:2210408I21Rik APN 13 77260031 missense possibly damaging 0.92
IGL02823:2210408I21Rik APN 13 77261955 missense probably damaging 0.96
IGL02859:2210408I21Rik APN 13 77267699 missense possibly damaging 0.71
IGL03006:2210408I21Rik APN 13 77323772 critical splice donor site probably null
IGL03072:2210408I21Rik APN 13 77259997 missense probably benign
IGL03184:2210408I21Rik APN 13 77323451 missense possibly damaging 0.63
IGL03275:2210408I21Rik APN 13 77298555 missense possibly damaging 0.71
PIT4651001:2210408I21Rik UTSW 13 77259895 missense probably benign
R0226:2210408I21Rik UTSW 13 77303425 missense possibly damaging 0.86
R0323:2210408I21Rik UTSW 13 77298555 missense possibly damaging 0.71
R0614:2210408I21Rik UTSW 13 77192663 missense probably benign 0.26
R0894:2210408I21Rik UTSW 13 77323607 missense probably benign 0.18
R1165:2210408I21Rik UTSW 13 77334287 missense probably benign 0.06
R1509:2210408I21Rik UTSW 13 77192647 missense probably benign
R1711:2210408I21Rik UTSW 13 77269920 missense possibly damaging 0.93
R1714:2210408I21Rik UTSW 13 77316360 missense possibly damaging 0.86
R1718:2210408I21Rik UTSW 13 77245370 intron probably benign
R1836:2210408I21Rik UTSW 13 77323374 missense probably benign 0.00
R1893:2210408I21Rik UTSW 13 77267809 missense possibly damaging 0.93
R2035:2210408I21Rik UTSW 13 77612642 makesense probably null
R2329:2210408I21Rik UTSW 13 77303325 missense probably benign 0.04
R2897:2210408I21Rik UTSW 13 77323521 missense probably benign 0.33
R3688:2210408I21Rik UTSW 13 77267849 missense possibly damaging 0.52
R4153:2210408I21Rik UTSW 13 77193173 missense probably benign 0.00
R4387:2210408I21Rik UTSW 13 77316574 critical splice donor site probably null
R4388:2210408I21Rik UTSW 13 77316574 critical splice donor site probably null
R4499:2210408I21Rik UTSW 13 77316527 missense possibly damaging 0.96
R4614:2210408I21Rik UTSW 13 77254256 intron probably null
R4798:2210408I21Rik UTSW 13 77323724 missense possibly damaging 0.96
R4943:2210408I21Rik UTSW 13 77245327 missense possibly damaging 0.86
R5045:2210408I21Rik UTSW 13 77267808 synonymous probably null
R5387:2210408I21Rik UTSW 13 77259973 missense probably benign 0.11
R5500:2210408I21Rik UTSW 13 77303389 missense probably benign 0.33
R5686:2210408I21Rik UTSW 13 77303314 missense possibly damaging 0.72
R6111:2210408I21Rik UTSW 13 77327902 missense possibly damaging 0.72
R6135:2210408I21Rik UTSW 13 77254216 missense probably damaging 0.98
R6188:2210408I21Rik UTSW 13 77183731 missense possibly damaging 0.53
R6388:2210408I21Rik UTSW 13 77262111 missense probably benign
R6588:2210408I21Rik UTSW 13 77192647 missense probably benign
R6632:2210408I21Rik UTSW 13 77281067 missense possibly damaging 0.86
R6638:2210408I21Rik UTSW 13 77303402 missense probably benign 0.07
R6755:2210408I21Rik UTSW 13 77327875 missense probably benign
R6971:2210408I21Rik UTSW 13 77193187 missense possibly damaging 0.90
R7079:2210408I21Rik UTSW 13 77254204 missense possibly damaging 0.86
R7130:2210408I21Rik UTSW 13 77269902 missense possibly damaging 0.93
R7215:2210408I21Rik UTSW 13 77323571 missense possibly damaging 0.96
R7272:2210408I21Rik UTSW 13 77323536 missense probably benign 0.00
R7331:2210408I21Rik UTSW 13 77183609 missense possibly damaging 0.53
R7561:2210408I21Rik UTSW 13 77193195 missense probably benign
R7684:2210408I21Rik UTSW 13 77612540 nonsense probably null
R7728:2210408I21Rik UTSW 13 77316477 missense possibly damaging 0.96
R7881:2210408I21Rik UTSW 13 77323566 missense possibly damaging 0.53
R7964:2210408I21Rik UTSW 13 77323566 missense possibly damaging 0.53
R8008:2210408I21Rik UTSW 13 77281115 missense probably benign 0.28
R8024:2210408I21Rik UTSW 13 77612594 missense probably benign
X0066:2210408I21Rik UTSW 13 77183640 missense possibly damaging 0.72
Z1088:2210408I21Rik UTSW 13 77174891 missense probably damaging 1.00
Posted On2015-04-16