Incidental Mutation 'IGL01627:Mycbpap'
ID92814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mycbpap
Ensembl Gene ENSMUSG00000039110
Gene NameMYCBP associated protein
SynonymsAMAP-1, 4932408B01Rik
Accession Numbers

NCBI RefSeq: NM_170671.2; MGI: 2388726

Is this an essential gene? Possibly essential (E-score: 0.516) question?
Stock #IGL01627
Quality Score
Status
Chromosome11
Chromosomal Location94501347-94521742 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94514604 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 33 (E33G)
Ref Sequence ENSEMBL: ENSMUSP00000091477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093945]
Predicted Effect probably damaging
Transcript: ENSMUST00000093945
AA Change: E33G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: E33G

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Pfam:MYCBPAP 184 602 3.7e-144 PFAM
low complexity region 848 860 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151993
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A T 9: 92,347,811 I23F probably damaging Het
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Casp9 T C 4: 141,805,542 probably benign Het
Ccdc186 G A 19: 56,792,020 T864I probably damaging Het
Chek1 T A 9: 36,723,895 H64L probably damaging Het
Chsy3 T C 18: 59,176,295 S207P probably damaging Het
Clec4n A G 6: 123,244,474 probably benign Het
Col9a1 G A 1: 24,179,608 probably null Het
Dgkd A G 1: 87,880,428 R73G probably damaging Het
Dmbt1 A T 7: 131,081,185 T562S probably benign Het
Epb42 T C 2: 121,025,843 T407A probably benign Het
Eps8l3 A G 3: 107,881,171 D58G probably damaging Het
Fuca1 A T 4: 135,925,551 N162I possibly damaging Het
Gramd1a T C 7: 31,139,796 D229G probably damaging Het
Grin1 A G 2: 25,318,697 S64P probably damaging Het
Hgd T G 16: 37,621,925 V243G probably damaging Het
Il23r A T 6: 67,423,428 N639K probably benign Het
Il33 A G 19: 29,951,990 T38A possibly damaging Het
Mb21d1 A T 9: 78,442,714 V57E possibly damaging Het
Npas1 C T 7: 16,465,186 G148D probably damaging Het
Ntan1 C T 16: 13,834,739 T233M probably benign Het
Olfr774 A T 10: 129,238,269 N40I probably damaging Het
Pou2f1 A T 1: 165,880,433 probably benign Het
Rims4 T C 2: 163,864,102 Y204C probably damaging Het
Selp A G 1: 164,143,892 probably null Het
Senp7 A G 16: 56,171,856 E725G probably damaging Het
Snx31 A T 15: 36,517,672 F366Y probably damaging Het
Spats2l A G 1: 57,902,082 probably benign Het
Tssk4 T C 14: 55,650,553 F69L probably damaging Het
Ugt3a2 T C 15: 9,335,720 L9P probably damaging Het
Vmn2r76 A T 7: 86,225,663 I702N probably damaging Het
Vps18 C A 2: 119,297,191 R832S probably benign Het
Xpo6 A G 7: 126,149,334 L375P probably damaging Het
Zfp462 C A 4: 55,008,912 P293T possibly damaging Het
Zyg11b T C 4: 108,250,788 I474V probably benign Het
Other mutations in Mycbpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Mycbpap APN 11 94509319 unclassified probably null
IGL01372:Mycbpap APN 11 94506456 missense possibly damaging 0.56
IGL01645:Mycbpap APN 11 94503467 splice site probably null
IGL01712:Mycbpap APN 11 94512655 missense possibly damaging 0.50
IGL02209:Mycbpap APN 11 94509882 splice site probably benign
IGL02377:Mycbpap APN 11 94503250 missense probably damaging 1.00
IGL03088:Mycbpap APN 11 94513943 critical splice acceptor site probably null
IGL03412:Mycbpap APN 11 94508101 splice site probably null
IGL03046:Mycbpap UTSW 11 94505717 missense possibly damaging 0.84
P0008:Mycbpap UTSW 11 94504067 missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94511736 missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94511736 missense probably damaging 1.00
R0437:Mycbpap UTSW 11 94513512 splice site probably benign
R0706:Mycbpap UTSW 11 94513786 nonsense probably null
R0791:Mycbpap UTSW 11 94511623 critical splice donor site probably null
R1496:Mycbpap UTSW 11 94505561 missense probably benign 0.11
R1522:Mycbpap UTSW 11 94511623 critical splice donor site probably null
R1698:Mycbpap UTSW 11 94508143 nonsense probably null
R1796:Mycbpap UTSW 11 94507551 missense probably damaging 1.00
R1906:Mycbpap UTSW 11 94505621 missense probably benign 0.24
R4115:Mycbpap UTSW 11 94512225 splice site probably null
R4930:Mycbpap UTSW 11 94503157 missense probably benign 0.20
R4965:Mycbpap UTSW 11 94504938 missense probably damaging 1.00
R5323:Mycbpap UTSW 11 94503504 missense probably benign 0.00
R5326:Mycbpap UTSW 11 94507746 splice site probably null
R5542:Mycbpap UTSW 11 94507746 splice site probably null
R5625:Mycbpap UTSW 11 94505693 missense probably damaging 0.99
R5841:Mycbpap UTSW 11 94505610 missense probably damaging 1.00
R5996:Mycbpap UTSW 11 94513594 missense probably benign
R6065:Mycbpap UTSW 11 94508187 unclassified probably null
R6192:Mycbpap UTSW 11 94507731 missense probably damaging 1.00
Posted On2013-12-09