Incidental Mutation 'R3426:Epb42'
ID 267871
Institutional Source Beutler Lab
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Name erythrocyte membrane protein band 4.2
Synonyms Epb4.2
MMRRC Submission 040644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3426 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120848372-120867358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120860520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 160 (L160M)
Ref Sequence ENSEMBL: ENSMUSP00000099548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
AlphaFold P49222
Predicted Effect probably damaging
Transcript: ENSMUST00000023987
AA Change: L160M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: L160M

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 damaging
Transcript: ENSMUST00000102490
AA Change: L160M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: L160M

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: ENSMUST00000152217
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Akap6 A T 12: 52,934,817 (GRCm39) N770Y probably damaging Het
Ank3 A G 10: 69,542,724 (GRCm39) H28R probably benign Het
Atrn A G 2: 130,862,876 (GRCm39) M1319V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Cc2d2a T C 5: 43,893,451 (GRCm39) S1416P probably benign Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Col9a2 C A 4: 120,907,604 (GRCm39) A335E possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Nup214 G A 2: 31,923,415 (GRCm39) V1315M probably damaging Het
Or4c100 T A 2: 88,356,208 (GRCm39) C94S probably damaging Het
Plek T C 11: 16,940,142 (GRCm39) Y166C probably damaging Het
Prdm4 T C 10: 85,746,153 (GRCm39) N85D probably damaging Het
Prelid1 T G 13: 55,470,007 (GRCm39) V2G probably benign Het
Serac1 T C 17: 6,117,053 (GRCm39) I168V probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Ttyh1 T C 7: 4,136,218 (GRCm39) probably null Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Utp14b T C 1: 78,643,056 (GRCm39) M318T probably damaging Het
Vars2 A T 17: 35,972,866 (GRCm39) I442N probably damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Wtap C T 17: 13,186,425 (GRCm39) R374Q possibly damaging Het
Zfp606 T C 7: 12,223,591 (GRCm39) M34T probably damaging Het
Other mutations in Epb42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01535:Epb42 APN 2 120,858,169 (GRCm39) missense probably damaging 1.00
IGL01627:Epb42 APN 2 120,856,324 (GRCm39) missense probably benign 0.06
IGL02059:Epb42 APN 2 120,855,188 (GRCm39) missense probably damaging 0.96
IGL02869:Epb42 APN 2 120,856,227 (GRCm39) missense probably benign
R0279:Epb42 UTSW 2 120,859,525 (GRCm39) splice site probably benign
R0521:Epb42 UTSW 2 120,859,631 (GRCm39) nonsense probably null
R1457:Epb42 UTSW 2 120,860,448 (GRCm39) critical splice donor site probably null
R2157:Epb42 UTSW 2 120,852,243 (GRCm39) missense probably benign
R2392:Epb42 UTSW 2 120,860,468 (GRCm39) missense possibly damaging 0.85
R2407:Epb42 UTSW 2 120,855,233 (GRCm39) missense probably damaging 1.00
R2866:Epb42 UTSW 2 120,856,402 (GRCm39) missense possibly damaging 0.93
R2993:Epb42 UTSW 2 120,859,525 (GRCm39) splice site probably benign
R3427:Epb42 UTSW 2 120,860,520 (GRCm39) missense probably damaging 1.00
R4192:Epb42 UTSW 2 120,860,570 (GRCm39) splice site probably null
R4940:Epb42 UTSW 2 120,864,932 (GRCm39) missense probably damaging 1.00
R5368:Epb42 UTSW 2 120,849,943 (GRCm39) missense probably benign 0.22
R5771:Epb42 UTSW 2 120,852,301 (GRCm39) missense probably damaging 0.99
R6048:Epb42 UTSW 2 120,854,889 (GRCm39) missense probably benign 0.00
R6362:Epb42 UTSW 2 120,856,260 (GRCm39) missense possibly damaging 0.72
R6475:Epb42 UTSW 2 120,857,614 (GRCm39) missense possibly damaging 0.53
R6711:Epb42 UTSW 2 120,854,589 (GRCm39) intron probably benign
R6843:Epb42 UTSW 2 120,858,166 (GRCm39) missense possibly damaging 0.85
R6895:Epb42 UTSW 2 120,867,104 (GRCm39) start gained probably benign
R7154:Epb42 UTSW 2 120,863,843 (GRCm39) missense probably benign 0.01
R7192:Epb42 UTSW 2 120,854,578 (GRCm39) missense unknown
R7600:Epb42 UTSW 2 120,852,307 (GRCm39) missense probably damaging 1.00
R7757:Epb42 UTSW 2 120,858,200 (GRCm39) missense possibly damaging 0.91
R7779:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7781:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7782:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7783:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R7784:Epb42 UTSW 2 120,864,916 (GRCm39) missense probably benign 0.14
R8737:Epb42 UTSW 2 120,856,324 (GRCm39) missense possibly damaging 0.75
R8915:Epb42 UTSW 2 120,849,987 (GRCm39) missense possibly damaging 0.92
R8930:Epb42 UTSW 2 120,854,767 (GRCm39) missense probably benign 0.00
R8932:Epb42 UTSW 2 120,854,767 (GRCm39) missense probably benign 0.00
R9746:Epb42 UTSW 2 120,855,091 (GRCm39) missense probably benign 0.00
Z1177:Epb42 UTSW 2 120,858,206 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCACCTCAGGTTGACAAG -3'
(R):5'- TTAACAGAGGGTGAGTGGTCC -3'

Sequencing Primer
(F):5'- AGGGCTCTTGAACCTGCAAG -3'
(R):5'- CAGTGAGAAGTACCCTCCTGAGTTTG -3'
Posted On 2015-02-18