Incidental Mutation 'IGL02623:Rbbp8nl'
ID300948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp8nl
Ensembl Gene ENSMUSG00000038980
Gene NameRBBP8 N-terminal like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02623
Quality Score
Status
Chromosome2
Chromosomal Location180277646-180289879 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 180281443 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 154 (S154C)
Ref Sequence ENSEMBL: ENSMUSP00000047237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038529]
Predicted Effect probably damaging
Transcript: ENSMUST00000038529
AA Change: S154C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980
AA Change: S154C

DomainStartEndE-ValueType
Pfam:CtIP_N 4 123 5.6e-56 PFAM
low complexity region 143 154 N/A INTRINSIC
low complexity region 157 172 N/A INTRINSIC
low complexity region 237 250 N/A INTRINSIC
low complexity region 282 296 N/A INTRINSIC
low complexity region 352 361 N/A INTRINSIC
low complexity region 365 379 N/A INTRINSIC
low complexity region 585 590 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N probably damaging Het
Other mutations in Rbbp8nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Rbbp8nl APN 2 180279695 missense probably benign 0.01
IGL01845:Rbbp8nl APN 2 180283311 missense probably damaging 0.99
IGL01966:Rbbp8nl APN 2 180280989 splice site probably benign
IGL02217:Rbbp8nl APN 2 180278188 unclassified probably benign
IGL02500:Rbbp8nl APN 2 180279329 missense possibly damaging 0.57
IGL02634:Rbbp8nl APN 2 180280895 missense probably benign 0.00
F5770:Rbbp8nl UTSW 2 180278208 missense probably benign 0.03
R0380:Rbbp8nl UTSW 2 180281719 missense probably damaging 0.96
R1773:Rbbp8nl UTSW 2 180281194 missense probably benign 0.00
R1858:Rbbp8nl UTSW 2 180282213 splice site probably benign
R1901:Rbbp8nl UTSW 2 180283313 missense probably damaging 1.00
R1962:Rbbp8nl UTSW 2 180280874 missense probably benign 0.03
R2423:Rbbp8nl UTSW 2 180280971 missense probably damaging 0.98
R2495:Rbbp8nl UTSW 2 180279102 missense probably null 0.31
R3738:Rbbp8nl UTSW 2 180281248 missense probably benign 0.37
R4460:Rbbp8nl UTSW 2 180280971 missense probably benign 0.41
R4502:Rbbp8nl UTSW 2 180279196 missense possibly damaging 0.48
R5573:Rbbp8nl UTSW 2 180279793 missense possibly damaging 0.95
R5699:Rbbp8nl UTSW 2 180278668 missense probably damaging 0.98
R6242:Rbbp8nl UTSW 2 180280974 missense probably damaging 1.00
R6269:Rbbp8nl UTSW 2 180281512 nonsense probably null
R6586:Rbbp8nl UTSW 2 180280959 missense probably damaging 1.00
R6875:Rbbp8nl UTSW 2 180279226 missense probably benign 0.00
R8055:Rbbp8nl UTSW 2 180278208 missense probably benign 0.00
V7581:Rbbp8nl UTSW 2 180278208 missense probably benign 0.03
V7582:Rbbp8nl UTSW 2 180278208 missense probably benign 0.03
Posted On2015-04-16