Incidental Mutation 'R6475:Epb42'
ID 517359
Institutional Source Beutler Lab
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Name erythrocyte membrane protein band 4.2
Synonyms Epb4.2
MMRRC Submission 044608-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6475 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120848372-120867358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120857614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 307 (Y307C)
Ref Sequence ENSEMBL: ENSMUSP00000023987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
AlphaFold P49222
Predicted Effect possibly damaging
Transcript: ENSMUST00000023987
AA Change: Y307C

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: Y307C

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: Y307C

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: Y307C

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: ENSMUST00000147444
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 55,003,610 (GRCm39) V44E probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Ccr4 A G 9: 114,322,047 (GRCm39) V6A probably benign Het
Cd209a A T 8: 3,797,031 (GRCm39) D102E probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Cog4 T A 8: 111,607,526 (GRCm39) I671N possibly damaging Het
Col14a1 T G 15: 55,309,218 (GRCm39) probably benign Het
Cpne6 A G 14: 55,751,110 (GRCm39) D173G probably damaging Het
Daglb G T 5: 143,467,406 (GRCm39) V275L probably benign Het
Defb43 G T 14: 63,249,321 (GRCm39) probably null Het
Dhx30 A G 9: 109,914,120 (GRCm39) V1022A possibly damaging Het
Egfem1 A T 3: 29,711,312 (GRCm39) K297M probably damaging Het
Egfr A G 11: 16,841,259 (GRCm39) I717V probably benign Het
Eif2ak1 T G 5: 143,803,765 (GRCm39) probably null Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fam185a A G 5: 21,630,281 (GRCm39) D39G probably benign Het
Fbxl4 T A 4: 22,433,661 (GRCm39) D599E probably damaging Het
Fgfr2 T A 7: 129,802,850 (GRCm39) T268S probably benign Het
Gabra1 A T 11: 42,053,382 (GRCm39) M84K probably benign Het
Gba1 A G 3: 89,113,235 (GRCm39) D222G probably benign Het
Gm3409 T A 5: 146,474,596 (GRCm39) H37Q possibly damaging Het
Gm4559 A G 7: 141,827,887 (GRCm39) C72R unknown Het
Grik4 T C 9: 42,540,304 (GRCm39) N292S probably benign Het
Haao A G 17: 84,139,113 (GRCm39) S274P possibly damaging Het
Hsd17b4 T A 18: 50,305,329 (GRCm39) probably null Het
Igdcc4 A T 9: 65,027,603 (GRCm39) S222C probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Itgb7 T A 15: 102,124,701 (GRCm39) D772V probably benign Het
Kif14 T C 1: 136,455,149 (GRCm39) L1607P probably damaging Het
Klf5 A G 14: 99,538,817 (GRCm39) T77A probably benign Het
Klhl29 C T 12: 5,141,030 (GRCm39) V605I probably damaging Het
Map4k1 T C 7: 28,686,447 (GRCm39) V105A probably damaging Het
Mctp2 A T 7: 71,850,092 (GRCm39) probably null Het
Med12l A G 3: 59,164,500 (GRCm39) E1364G probably damaging Het
Mup9 A T 4: 60,375,805 (GRCm39) D30E possibly damaging Het
Naip1 T C 13: 100,545,596 (GRCm39) R1311G probably damaging Het
Or2ag2 A G 7: 106,485,604 (GRCm39) V140A probably benign Het
Or2v1 C T 11: 49,025,760 (GRCm39) T247I probably benign Het
Or4f14 G A 2: 111,743,204 (GRCm39) Q24* probably null Het
Or8g28 T A 9: 39,169,378 (GRCm39) M197L probably benign Het
Pkd1l3 A C 8: 110,349,844 (GRCm39) T230P unknown Het
Pthlh G T 6: 147,158,688 (GRCm39) H91N probably damaging Het
Rapgef5 T A 12: 117,681,942 (GRCm39) V239D probably damaging Het
Rita1 G A 5: 120,749,635 (GRCm39) T26I probably damaging Het
Robo3 T C 9: 37,334,586 (GRCm39) T615A probably damaging Het
Rpp38 T C 2: 3,330,644 (GRCm39) D86G probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Senp2 G T 16: 21,842,550 (GRCm39) V205L probably damaging Het
Septin10 T C 10: 59,028,133 (GRCm39) N63D possibly damaging Het
Sez6 A G 11: 77,864,670 (GRCm39) Het
Spesp1 C T 9: 62,179,715 (GRCm39) V398I probably benign Het
Tmbim7 G A 5: 3,714,319 (GRCm39) G19S probably benign Het
Tnni3k A T 3: 154,646,695 (GRCm39) L431* probably null Het
Trdn T A 10: 33,340,551 (GRCm39) probably null Het
Tubb2a A G 13: 34,259,442 (GRCm39) V116A possibly damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Zfp768 A T 7: 126,943,827 (GRCm39) F103L probably damaging Het
Zfp799 A G 17: 33,039,820 (GRCm39) S149P 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
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
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'- TCCTGGAGTGAAAACACCCC -3'
(R):5'- TATTCAGTGCAGAATCCTCCTC -3'

Sequencing Primer
(F):5'- CCCACCACTGACCGCTG -3'
(R):5'- GCAGAATCCTCCTCTTTCTACAATG -3'
Posted On 2018-05-21