Incidental Mutation 'IGL02282:2610507B11Rik'
ID289891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610507B11Rik
Ensembl Gene ENSMUSG00000010277
Gene NameRIKEN cDNA 2610507B11 gene
SynonymsD11Bhm178e, D11Bhm179e, E1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL02282
Quality Score
Status
Chromosome11
Chromosomal Location78261752-78290623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 78284228 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 1730 (P1730S)
Ref Sequence ENSEMBL: ENSMUSP00000010421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010421]
Predicted Effect probably benign
Transcript: ENSMUST00000010421
AA Change: P1730S

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: P1730S

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
Pfam:Fmp27 26 475 1.6e-45 PFAM
Pfam:Fmp27 446 674 3.2e-24 PFAM
low complexity region 719 734 N/A INTRINSIC
low complexity region 785 798 N/A INTRINSIC
low complexity region 859 872 N/A INTRINSIC
Fmp27_GFWDK 1028 1160 3.01e-61 SMART
low complexity region 1415 1421 N/A INTRINSIC
low complexity region 1690 1701 N/A INTRINSIC
Pfam:Apt1 1703 2176 2.4e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147432
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,005,987 D1545G probably damaging Het
AI481877 A C 4: 59,111,114 Y53D unknown Het
Baiap3 A C 17: 25,249,377 D234E probably benign Het
Cand1 T A 10: 119,210,709 T959S probably benign Het
Ctdspl2 A G 2: 121,977,478 probably benign Het
Cyp2a4 A C 7: 26,309,047 M205L probably benign Het
Dlx5 G A 6: 6,881,762 A42V probably damaging Het
Dnah7a A G 1: 53,643,510 I267T possibly damaging Het
Dnajb6 A G 5: 29,752,418 D66G probably damaging Het
Fgf8 T C 19: 45,737,090 H201R possibly damaging Het
Gpc1 A G 1: 92,857,967 K460E probably damaging Het
Gzme A T 14: 56,118,369 L162Q probably damaging Het
Ik G A 18: 36,745,644 G17D probably damaging Het
Il4 G A 11: 53,618,174 T59M probably damaging Het
Kcnh3 G T 15: 99,228,043 probably null Het
Mill1 G T 7: 18,263,204 probably null Het
Npbwr1 A T 1: 5,916,965 M110K possibly damaging Het
Olfr1490 T A 19: 13,655,258 D276E probably damaging Het
Olfr849 A G 9: 19,441,618 Y235C probably benign Het
Olfr881 A T 9: 37,993,022 I177F probably damaging Het
Opalin A T 19: 41,066,504 S84T probably benign Het
Pcdhb11 T C 18: 37,423,828 L737P probably damaging Het
Phip G A 9: 82,913,690 S626L probably benign Het
Ppl T C 16: 5,101,458 D435G probably damaging Het
Prss37 A G 6: 40,515,383 V178A possibly damaging Het
Ptpn7 A G 1: 135,134,834 I104V probably damaging Het
Ptprn A G 1: 75,253,156 Y700H probably damaging Het
Rab11fip5 T A 6: 85,337,552 T555S probably damaging Het
Rfwd3 A T 8: 111,293,982 probably benign Het
Robo1 G A 16: 72,742,138 R41H probably damaging Het
Rps3 A G 7: 99,479,272 probably null Het
Ruvbl2 G A 7: 45,425,165 T183I probably benign Het
Sema4c A T 1: 36,550,203 probably null Het
Taar8b T A 10: 24,091,555 K247I possibly damaging Het
Tacr3 A T 3: 134,861,073 I236F probably benign Het
Ttc21b A G 2: 66,191,737 I1168T probably damaging Het
Ttc9b A T 7: 27,655,911 D202V probably damaging Het
Vmn2r26 T G 6: 124,061,625 C720G probably damaging Het
Vmn2r37 A G 7: 9,206,762 S584P probably benign Het
Wnk2 T A 13: 49,068,125 D1208V probably damaging Het
Zfp988 T A 4: 147,331,668 C186* probably null Het
Zp3 A G 5: 135,984,351 N179S possibly damaging Het
Other mutations in 2610507B11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:2610507B11Rik APN 11 78269574 missense possibly damaging 0.55
IGL00497:2610507B11Rik APN 11 78272933 missense probably damaging 1.00
IGL00797:2610507B11Rik APN 11 78273150 missense probably benign 0.07
IGL01695:2610507B11Rik APN 11 78265193 missense probably benign 0.03
IGL02055:2610507B11Rik APN 11 78286631 missense probably damaging 1.00
IGL02066:2610507B11Rik APN 11 78273232 missense probably damaging 1.00
IGL02231:2610507B11Rik APN 11 78279896 missense probably benign
IGL02293:2610507B11Rik APN 11 78271910 missense probably damaging 1.00
IGL02336:2610507B11Rik APN 11 78289032 missense probably damaging 1.00
IGL02528:2610507B11Rik APN 11 78271976 missense possibly damaging 0.93
IGL03231:2610507B11Rik APN 11 78268702 missense probably benign 0.02
R0003:2610507B11Rik UTSW 11 78286578 missense possibly damaging 0.66
R0197:2610507B11Rik UTSW 11 78269704 unclassified probably benign
R0244:2610507B11Rik UTSW 11 78286491 unclassified probably null
R0281:2610507B11Rik UTSW 11 78271924 missense possibly damaging 0.88
R0396:2610507B11Rik UTSW 11 78268377 missense possibly damaging 0.93
R0624:2610507B11Rik UTSW 11 78268457 missense probably damaging 1.00
R0666:2610507B11Rik UTSW 11 78287987 missense probably damaging 1.00
R0666:2610507B11Rik UTSW 11 78277212 nonsense probably null
R1313:2610507B11Rik UTSW 11 78265672 missense probably benign 0.02
R1313:2610507B11Rik UTSW 11 78265672 missense probably benign 0.02
R1443:2610507B11Rik UTSW 11 78262798 missense probably damaging 1.00
R1485:2610507B11Rik UTSW 11 78285580 missense probably damaging 1.00
R1500:2610507B11Rik UTSW 11 78284132 missense possibly damaging 0.46
R1537:2610507B11Rik UTSW 11 78289343 missense probably damaging 1.00
R1543:2610507B11Rik UTSW 11 78275174 missense probably benign 0.44
R1702:2610507B11Rik UTSW 11 78289028 missense probably damaging 1.00
R1804:2610507B11Rik UTSW 11 78273469 missense probably damaging 1.00
R1835:2610507B11Rik UTSW 11 78287750 missense probably damaging 0.97
R1852:2610507B11Rik UTSW 11 78268473 missense probably damaging 1.00
R1861:2610507B11Rik UTSW 11 78287929 unclassified probably benign
R1986:2610507B11Rik UTSW 11 78274612 missense probably damaging 1.00
R1987:2610507B11Rik UTSW 11 78268167 missense probably damaging 1.00
R2061:2610507B11Rik UTSW 11 78268749 nonsense probably null
R2113:2610507B11Rik UTSW 11 78268772 missense probably benign 0.02
R3692:2610507B11Rik UTSW 11 78269509 missense probably damaging 1.00
R3788:2610507B11Rik UTSW 11 78288297 critical splice donor site probably null
R3835:2610507B11Rik UTSW 11 78279085 missense probably benign 0.17
R3882:2610507B11Rik UTSW 11 78262700 missense probably damaging 1.00
R3943:2610507B11Rik UTSW 11 78269524 nonsense probably null
R3944:2610507B11Rik UTSW 11 78269524 nonsense probably null
R3945:2610507B11Rik UTSW 11 78289964 missense probably damaging 1.00
R4196:2610507B11Rik UTSW 11 78263556 intron probably benign
R4510:2610507B11Rik UTSW 11 78277328 missense possibly damaging 0.59
R4511:2610507B11Rik UTSW 11 78277328 missense possibly damaging 0.59
R4756:2610507B11Rik UTSW 11 78264028 missense probably damaging 0.98
R5337:2610507B11Rik UTSW 11 78265208 missense possibly damaging 0.46
R5419:2610507B11Rik UTSW 11 78272090 nonsense probably null
R5572:2610507B11Rik UTSW 11 78264567 missense probably damaging 0.98
R5719:2610507B11Rik UTSW 11 78273245 missense probably damaging 0.97
R5754:2610507B11Rik UTSW 11 78269541 missense probably damaging 1.00
R5890:2610507B11Rik UTSW 11 78273270 nonsense probably null
R5919:2610507B11Rik UTSW 11 78289350 missense probably damaging 1.00
R5925:2610507B11Rik UTSW 11 78284238 missense probably benign 0.06
R5976:2610507B11Rik UTSW 11 78284129 missense probably benign 0.00
R5999:2610507B11Rik UTSW 11 78285468 missense probably damaging 1.00
R6056:2610507B11Rik UTSW 11 78271384 missense possibly damaging 0.77
R6180:2610507B11Rik UTSW 11 78273258 missense possibly damaging 0.51
R6484:2610507B11Rik UTSW 11 78279095 missense probably damaging 1.00
R6721:2610507B11Rik UTSW 11 78279799 missense probably damaging 1.00
R6800:2610507B11Rik UTSW 11 78288279 missense probably benign 0.13
R6911:2610507B11Rik UTSW 11 78268353 missense probably damaging 0.99
R6923:2610507B11Rik UTSW 11 78274626 missense possibly damaging 0.67
X0028:2610507B11Rik UTSW 11 78286635 missense probably damaging 0.99
Posted On2015-04-16