Incidental Mutation 'IGL01982:4921501E09Rik'
ID182733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4921501E09Rik
Ensembl Gene ENSMUSG00000023350
Gene NameRIKEN cDNA 4921501E09 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL01982
Quality Score
Status
Chromosome17
Chromosomal Location33064143-33068058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 33066315 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 504 (E504D)
Ref Sequence ENSEMBL: ENSMUSP00000024121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024121]
Predicted Effect probably benign
Transcript: ENSMUST00000024121
AA Change: E504D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: E504D

DomainStartEndE-ValueType
PHD 7 54 1.5e-8 SMART
JmjC 195 351 1.38e-46 SMART
low complexity region 475 489 N/A INTRINSIC
low complexity region 731 745 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A C 1: 71,346,698 S254A probably benign Het
Abca7 T G 10: 80,002,641 L583R probably damaging Het
Acp1 A T 12: 30,911,492 L14H possibly damaging Het
Adar A G 3: 89,738,090 I3V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1l1 A G 6: 90,559,863 I103V probably benign Het
Asic3 C A 5: 24,417,721 T523N probably benign Het
Aspm T C 1: 139,491,588 V1732A probably benign Het
Atad3a C T 4: 155,753,927 R211Q possibly damaging Het
Bahcc1 A G 11: 120,287,473 Y2286C probably damaging Het
BC034090 T C 1: 155,223,332 E569G probably damaging Het
Bpifb3 A G 2: 153,925,601 N237S probably benign Het
Bysl C A 17: 47,611,071 probably null Het
C2cd6 T C 1: 59,067,773 probably benign Het
Ccdc141 A G 2: 77,030,659 F925L probably damaging Het
Cdca2 A T 14: 67,677,719 V697E probably damaging Het
Cers1 A G 8: 70,323,431 D324G probably damaging Het
Ctsq C T 13: 61,039,521 C11Y probably benign Het
Ctsq T A 13: 61,038,918 I91F probably benign Het
Cyp11b1 T C 15: 74,839,403 N142S possibly damaging Het
Cyp3a59 G T 5: 146,104,735 S363I probably benign Het
Eps15l1 A T 8: 72,379,075 D567E probably benign Het
Esf1 G A 2: 140,164,528 A233V probably benign Het
Fras1 A T 5: 96,739,248 I2630F possibly damaging Het
Fyb A T 15: 6,580,177 E77V probably null Het
Gjb6 C A 14: 57,124,573 W77L probably damaging Het
Gm21983 A G 7: 27,180,278 V88A possibly damaging Het
Gm8247 A G 14: 44,585,631 T52A probably damaging Het
Gpr108 T C 17: 57,237,877 K329E probably damaging Het
Gpr141 T A 13: 19,751,738 H289L probably benign Het
Ilvbl T C 10: 78,579,022 Y240H probably damaging Het
Kntc1 G A 5: 123,809,096 A1868T probably benign Het
Lrmda A C 14: 22,584,482 N112T probably damaging Het
Ly75 T C 2: 60,311,764 Y1334C probably damaging Het
Macc1 C A 12: 119,445,634 P46T probably benign Het
Madd A T 2: 91,175,707 F381Y probably damaging Het
Map3k20 C T 2: 72,298,333 Q38* probably null Het
Mcm4 A T 16: 15,630,420 D424E possibly damaging Het
Micu1 T A 10: 59,863,278 M463K possibly damaging Het
Mkrn2os A G 6: 115,585,531 L157P probably damaging Het
Nectin2 A G 7: 19,717,562 S516P probably damaging Het
Nme5 T A 18: 34,569,875 D120V probably damaging Het
Npy4r T C 14: 34,147,325 N2S possibly damaging Het
Nup107 A T 10: 117,759,340 probably benign Het
Omd T C 13: 49,589,497 Y8H possibly damaging Het
Ppp1r15a T C 7: 45,524,379 probably benign Het
Ppp2ca T C 11: 52,099,064 F6L probably benign Het
Rab1a T C 11: 20,224,717 S97P probably benign Het
Ranbp3l G A 15: 9,058,746 G359R probably damaging Het
Rnf213 A T 11: 119,443,268 H3101L probably damaging Het
Slc27a4 T C 2: 29,812,615 F509S probably damaging Het
Slco4a1 T C 2: 180,473,153 V623A probably benign Het
Spg20 T A 3: 55,128,490 probably null Het
Sptan1 A G 2: 30,019,968 D1780G probably damaging Het
Tgm7 G T 2: 121,093,625 Y605* probably null Het
Tmem106b T C 6: 13,071,969 probably benign Het
Trak2 G A 1: 58,926,655 A120V possibly damaging Het
Trappc8 G A 18: 20,874,712 probably benign Het
Trim66 T C 7: 109,458,763 T973A probably benign Het
Ttyh3 C A 5: 140,636,074 probably benign Het
Ugt2b37 A C 5: 87,242,432 I385S probably damaging Het
Usf3 A G 16: 44,218,817 N1220S possibly damaging Het
Utrn A T 10: 12,748,029 I155N probably damaging Het
Vps13b C T 15: 35,438,904 Q377* probably null Het
Washc2 A T 6: 116,236,189 E570D probably benign Het
Wscd1 T C 11: 71,766,873 V168A possibly damaging Het
Zfp386 T A 12: 116,059,168 C169S probably benign Het
Other mutations in 4921501E09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:4921501E09Rik APN 17 33065863 missense probably benign 0.10
IGL00790:4921501E09Rik APN 17 33067387 missense probably damaging 1.00
IGL01146:4921501E09Rik APN 17 33065383 missense possibly damaging 0.68
IGL01755:4921501E09Rik APN 17 33066977 missense probably damaging 0.99
IGL01880:4921501E09Rik APN 17 33066716 missense probably damaging 0.99
IGL01981:4921501E09Rik APN 17 33067654 missense probably damaging 1.00
IGL02047:4921501E09Rik APN 17 33067301 missense probably damaging 1.00
IGL02070:4921501E09Rik APN 17 33066130 missense probably damaging 0.98
R0055:4921501E09Rik UTSW 17 33066722 missense probably damaging 1.00
R0055:4921501E09Rik UTSW 17 33066722 missense probably damaging 1.00
R0893:4921501E09Rik UTSW 17 33065289 missense probably benign 0.34
R1528:4921501E09Rik UTSW 17 33067241 missense probably damaging 1.00
R1558:4921501E09Rik UTSW 17 33065705 missense probably benign 0.20
R1664:4921501E09Rik UTSW 17 33066518 missense probably damaging 1.00
R1782:4921501E09Rik UTSW 17 33067688 missense probably benign 0.06
R1881:4921501E09Rik UTSW 17 33065284 missense probably damaging 1.00
R2018:4921501E09Rik UTSW 17 33066967 missense probably benign 0.15
R2029:4921501E09Rik UTSW 17 33067624 nonsense probably null
R2152:4921501E09Rik UTSW 17 33066934 missense probably damaging 1.00
R2298:4921501E09Rik UTSW 17 33066778 missense probably damaging 1.00
R2395:4921501E09Rik UTSW 17 33065962 missense probably benign 0.28
R2424:4921501E09Rik UTSW 17 33065756 missense probably benign 0.00
R3973:4921501E09Rik UTSW 17 33066431 missense probably benign 0.24
R3976:4921501E09Rik UTSW 17 33066431 missense probably benign 0.24
R4159:4921501E09Rik UTSW 17 33066049 missense probably benign 0.01
R4160:4921501E09Rik UTSW 17 33066049 missense probably benign 0.01
R4161:4921501E09Rik UTSW 17 33066049 missense probably benign 0.01
R4761:4921501E09Rik UTSW 17 33067198 missense probably damaging 1.00
R4855:4921501E09Rik UTSW 17 33066739 missense probably benign 0.00
R5039:4921501E09Rik UTSW 17 33067760 missense probably damaging 1.00
R5255:4921501E09Rik UTSW 17 33066765 nonsense probably null
R5383:4921501E09Rik UTSW 17 33065257 missense probably benign
R5520:4921501E09Rik UTSW 17 33065393 missense probably benign 0.03
R5588:4921501E09Rik UTSW 17 33066275 nonsense probably null
R5685:4921501E09Rik UTSW 17 33066772 missense probably benign 0.04
R5826:4921501E09Rik UTSW 17 33065314 missense possibly damaging 0.87
R5907:4921501E09Rik UTSW 17 33066150 missense probably benign 0.01
R6397:4921501E09Rik UTSW 17 33066245 missense probably benign 0.28
R6731:4921501E09Rik UTSW 17 33066226 missense probably benign 0.02
R6750:4921501E09Rik UTSW 17 33066398 missense possibly damaging 0.82
R7043:4921501E09Rik UTSW 17 33065332 missense possibly damaging 0.85
R7242:4921501E09Rik UTSW 17 33067127 missense probably damaging 1.00
R7262:4921501E09Rik UTSW 17 33066997 missense probably damaging 0.99
R7265:4921501E09Rik UTSW 17 33066997 missense probably damaging 0.99
R7286:4921501E09Rik UTSW 17 33065527 missense probably benign
R7797:4921501E09Rik UTSW 17 33067690 missense probably damaging 1.00
Z1176:4921501E09Rik UTSW 17 33065657 missense possibly damaging 0.95
Posted On2014-05-07