Incidental Mutation 'R6711:Epb42'
ID 529116
Institutional Source Beutler Lab
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Name erythrocyte membrane protein band 4.2
Synonyms Epb4.2
MMRRC Submission 044829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6711 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120848372-120867358 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 120854589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
AlphaFold P49222
Predicted Effect unknown
Transcript: ENSMUST00000023987
AA Change: R665S
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: R665S

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
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,627,374 (GRCm39) D156G probably damaging Het
Ankrd35 C T 3: 96,590,784 (GRCm39) Q357* probably null Het
Ano2 G A 6: 125,752,795 (GRCm39) A191T probably damaging Het
Cacna2d1 C T 5: 16,505,039 (GRCm39) T331I probably damaging Het
Ccdc81 T G 7: 89,537,006 (GRCm39) E214A probably damaging Het
Cdh4 A G 2: 179,532,724 (GRCm39) T729A probably damaging Het
Ceacam2 A G 7: 25,238,295 (GRCm39) L43P probably benign Het
Ces2h A T 8: 105,744,715 (GRCm39) R364S probably benign Het
Dcpp3 AGGCCATGCTGGCC AGGCC 17: 24,136,572 (GRCm39) probably benign Het
Entrep1 T C 19: 23,955,463 (GRCm39) N385S probably benign Het
Fcgbp G A 7: 27,789,098 (GRCm39) V555M probably damaging Het
Ganc A T 2: 120,281,320 (GRCm39) H723L possibly damaging Het
Gfra2 A G 14: 71,203,715 (GRCm39) D31G probably damaging Het
Glrb A G 3: 80,752,281 (GRCm39) I443T probably benign Het
Hcfc1 A T X: 72,993,671 (GRCm39) C1165S probably damaging Homo
Hoxd10 A G 2: 74,524,507 (GRCm39) Y273C probably damaging Het
Iba57 T C 11: 59,049,369 (GRCm39) T267A probably damaging Het
Impg2 C A 16: 56,085,449 (GRCm39) P943H probably damaging Het
Kidins220 A G 12: 25,048,750 (GRCm39) T145A probably damaging Het
Lmntd1 T C 6: 145,489,228 (GRCm39) Y11C probably benign Het
Lyst A T 13: 13,809,820 (GRCm39) T497S possibly damaging Het
Man1a G A 10: 53,809,588 (GRCm39) H406Y probably benign Het
Mme A T 3: 63,249,339 (GRCm39) K289N possibly damaging Het
Mrps21 G A 3: 95,777,895 (GRCm39) probably benign Het
Mtor A G 4: 148,536,824 (GRCm39) N33D possibly damaging Het
Ncoa1 C A 12: 4,372,904 (GRCm39) A166S probably benign Het
Ndrg2 A T 14: 52,147,782 (GRCm39) F112I possibly damaging Het
Neb A C 2: 52,113,076 (GRCm39) F36C probably benign Het
Neb A G 2: 52,146,299 (GRCm39) Y2893H probably damaging Het
Or8g22 A G 9: 38,958,162 (GRCm39) *229Q probably null Het
Pcdh15 A T 10: 74,478,219 (GRCm39) E231D possibly damaging Het
Pih1d2 T A 9: 50,529,310 (GRCm39) M1K probably null Het
Pla2g4e T C 2: 120,001,751 (GRCm39) N633D probably benign Het
Rph3al C A 11: 75,799,810 (GRCm39) G50* probably null Het
Rtcb A T 10: 85,774,963 (GRCm39) N477K possibly damaging Het
Scn10a A G 9: 119,438,979 (GRCm39) F1630S probably damaging Het
Srfbp1 T C 18: 52,621,373 (GRCm39) S145P probably damaging Het
St7 A G 6: 17,848,069 (GRCm39) E211G possibly damaging Het
Thbs2 T C 17: 14,910,527 (GRCm39) D24G probably benign Het
Tlr6 C A 5: 65,111,835 (GRCm39) M357I probably damaging Het
Tmem168 T C 6: 13,603,120 (GRCm39) Y82C probably damaging Het
Tnrc18 A T 5: 142,773,545 (GRCm39) L245Q unknown Het
Vmn1r8 T C 6: 57,013,444 (GRCm39) L165P probably damaging Het
Vps13b A G 15: 35,887,395 (GRCm39) Y3268C probably damaging Het
Zdhhc7 A G 8: 120,810,066 (GRCm39) I218T probably benign Het
Zfp213 A G 17: 23,778,485 (GRCm39) F209S probably benign 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
R3426:Epb42 UTSW 2 120,860,520 (GRCm39) missense probably damaging 1.00
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
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'- TTGTAGTCCCGTGGATGAGC -3'
(R):5'- TCTGACACACTGAGAGGACC -3'

Sequencing Primer
(F):5'- AGTATAGACCAGGCATAGAGTTTCCC -3'
(R):5'- TGCAATTAGATAAGTACACAGCCC -3'
Posted On 2018-07-24