Incidental Mutation 'IGL01627:Epb42'
ID92806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Nameerythrocyte membrane protein band 4.2
SynonymsEpb4.2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01627
Quality Score
Status
Chromosome2
Chromosomal Location121017891-121037072 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121025843 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 407 (T407A)
Ref Sequence ENSEMBL: ENSMUSP00000023987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
Predicted Effect probably benign
Transcript: ENSMUST00000023987
AA Change: T407A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: T407A

DomainStartEndE-ValueType
Pfam:Transglut_N 5 126 8.9e-35 PFAM
TGc 260 353 3.52e-27 SMART
low complexity region 442 458 N/A INTRINSIC
Pfam:Transglut_C 475 552 5.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102490
AA Change: T407A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: T407A

DomainStartEndE-ValueType
Pfam:Transglut_N 6 124 5.8e-34 PFAM
TGc 260 353 3.52e-27 SMART
low complexity region 442 458 N/A INTRINSIC
Pfam:Transglut_C 475 580 8e-23 PFAM
Pfam:Transglut_C 588 686 8.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147444
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators]
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
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
Mycbpap T C 11: 94,514,604 E33G probably 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 Epb42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01535:Epb42 APN 2 121027688 missense probably damaging 1.00
IGL02059:Epb42 APN 2 121024707 missense probably damaging 0.96
IGL02869:Epb42 APN 2 121025746 missense probably benign
R0279:Epb42 UTSW 2 121029044 splice site probably benign
R0521:Epb42 UTSW 2 121029150 nonsense probably null
R1457:Epb42 UTSW 2 121029967 critical splice donor site probably null
R2157:Epb42 UTSW 2 121021762 missense probably benign
R2392:Epb42 UTSW 2 121029987 missense possibly damaging 0.85
R2407:Epb42 UTSW 2 121024752 missense probably damaging 1.00
R2866:Epb42 UTSW 2 121025921 missense possibly damaging 0.93
R2993:Epb42 UTSW 2 121029044 splice site probably benign
R3426:Epb42 UTSW 2 121030039 missense probably damaging 1.00
R3427:Epb42 UTSW 2 121030039 missense probably damaging 1.00
R4192:Epb42 UTSW 2 121030089 splice site probably null
R4940:Epb42 UTSW 2 121034451 missense probably damaging 1.00
R5368:Epb42 UTSW 2 121019462 missense probably benign 0.22
R5771:Epb42 UTSW 2 121021820 missense probably damaging 0.99
R6048:Epb42 UTSW 2 121024408 missense probably benign 0.00
R6362:Epb42 UTSW 2 121025779 missense possibly damaging 0.72
R6475:Epb42 UTSW 2 121027133 missense possibly damaging 0.53
R6711:Epb42 UTSW 2 121024108 intron probably benign
R6843:Epb42 UTSW 2 121027685 missense possibly damaging 0.85
R6895:Epb42 UTSW 2 121036623 start gained probably benign
R7154:Epb42 UTSW 2 121033362 missense probably benign 0.01
R7192:Epb42 UTSW 2 121024097 missense unknown
R7600:Epb42 UTSW 2 121021826 missense probably damaging 1.00
R7757:Epb42 UTSW 2 121027719 missense possibly damaging 0.91
R7779:Epb42 UTSW 2 121034435 missense probably benign 0.14
R7781:Epb42 UTSW 2 121034435 missense probably benign 0.14
R7782:Epb42 UTSW 2 121034435 missense probably benign 0.14
R7783:Epb42 UTSW 2 121034435 missense probably benign 0.14
R7784:Epb42 UTSW 2 121034435 missense probably benign 0.14
Posted On2013-12-09