Incidental Mutation 'R7784:Epb42'
ID 599429
Institutional Source Beutler Lab
Gene Symbol Epb42
Ensembl Gene ENSMUSG00000023216
Gene Name erythrocyte membrane protein band 4.2
Synonyms Epb4.2
MMRRC Submission 045840-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7784 (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 G at 120864916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 58 (K58N)
Ref Sequence ENSEMBL: ENSMUSP00000099548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]
AlphaFold P49222
Predicted Effect possibly damaging
Transcript: ENSMUST00000023987
AA Change: K58N

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: K58N

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: K58N

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: K58N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,638 (GRCm39) probably null Het
3425401B19Rik A T 14: 32,381,797 (GRCm39) S1389R probably benign Het
Abca9 A T 11: 110,045,243 (GRCm39) C363* probably null Het
Actbl2 T A 13: 111,391,945 (GRCm39) N93K probably damaging Het
Adamtsl3 T C 7: 82,223,197 (GRCm39) Y993H probably damaging Het
Adgrg1 G A 8: 95,739,510 (GRCm39) W653* probably null Het
Akap13 T A 7: 75,260,076 (GRCm39) V97D probably benign Het
Cacna1d T A 14: 29,845,396 (GRCm39) D613V probably damaging Het
Col10a1 C A 10: 34,270,214 (GRCm39) P62H unknown Het
Cpb2 A T 14: 75,512,480 (GRCm39) N298Y probably damaging Het
Ddc A G 11: 11,789,396 (GRCm39) probably null Het
Ddx6 T C 9: 44,541,439 (GRCm39) probably null Het
Eps8 T A 6: 137,476,585 (GRCm39) I605L probably benign Het
Eps8l1 T C 7: 4,475,121 (GRCm39) L304P probably damaging Het
Erbb4 T A 1: 68,114,658 (GRCm39) I929F probably damaging Het
Erc2 A T 14: 27,620,551 (GRCm39) N393I probably damaging Het
Fbxw25 C T 9: 109,479,187 (GRCm39) D355N Het
Ffar2 T C 7: 30,518,683 (GRCm39) K286E probably benign Het
Gabrd A G 4: 155,473,389 (GRCm39) probably null Het
Ganc G A 2: 120,267,149 (GRCm39) W488* probably null Het
Ifi207 T A 1: 173,557,698 (GRCm39) M347L unknown Het
Kat6b A T 14: 21,710,909 (GRCm39) I619F probably damaging Het
Kif26a A G 12: 112,144,581 (GRCm39) R1612G possibly damaging Het
Kifc3 A G 8: 95,837,320 (GRCm39) probably null Het
Krt39 A T 11: 99,411,857 (GRCm39) C76* probably null Het
Lcmt1 G T 7: 123,000,718 (GRCm39) R84L probably benign Het
Lrit1 A G 14: 36,783,737 (GRCm39) Y355C probably benign Het
Mad2l1 C A 6: 66,512,397 (GRCm39) probably null Het
Med23 C T 10: 24,778,346 (GRCm39) T870M probably damaging Het
Mrpl2 A G 17: 46,959,517 (GRCm39) probably null Het
Mtmr6 A G 14: 60,537,894 (GRCm39) D593G probably benign Het
Myo15b G A 11: 115,752,166 (GRCm39) V683M Het
Neb T A 2: 52,125,500 (GRCm39) M506L Het
Or12d13 T C 17: 37,647,469 (GRCm39) Y218C probably benign Het
Or12d13 A G 17: 37,647,946 (GRCm39) F59S probably damaging Het
Or2a20 T A 6: 43,194,322 (GRCm39) H158Q possibly damaging Het
Or9m1 G A 2: 87,733,537 (GRCm39) T161I probably benign Het
Pdzd8 A G 19: 59,316,295 (GRCm39) F294L probably damaging Het
Rabgap1 G A 2: 37,377,544 (GRCm39) S347N possibly damaging Het
Rasgrf2 T C 13: 92,044,201 (GRCm39) T350A Het
Rbp3 A T 14: 33,676,115 (GRCm39) H21L probably benign Het
Rp1 C A 1: 4,212,881 (GRCm39) V1069F unknown Het
Rtn4 T A 11: 29,691,048 (GRCm39) L1113* probably null Het
Ryr3 A G 2: 112,606,040 (GRCm39) F2407L probably damaging Het
Septin2 T A 1: 93,425,166 (GRCm39) D107E probably damaging Het
Septin4 A G 11: 87,469,834 (GRCm39) T7A probably benign Het
Slc34a3 T A 2: 25,122,237 (GRCm39) I123F probably damaging Het
Slc9a4 T C 1: 40,639,936 (GRCm39) Y243H probably damaging Het
Slco1a1 T A 6: 141,889,114 (GRCm39) E66V probably damaging Het
Slco1a7 C T 6: 141,658,919 (GRCm39) probably null Het
Sp140l2 T A 1: 85,190,195 (GRCm39) probably null Het
Spata33 A G 8: 123,939,991 (GRCm39) R68G unknown Het
Spta1 G A 1: 174,030,017 (GRCm39) D928N probably damaging Het
St8sia5 A G 18: 77,342,246 (GRCm39) S319G probably benign Het
Tmem208 A G 8: 106,055,465 (GRCm39) D149G possibly damaging Het
Trank1 A T 9: 111,193,171 (GRCm39) I583F probably damaging Het
Trio C T 15: 27,764,080 (GRCm39) V2015M probably damaging Het
Tsc22d1 C T 14: 76,654,141 (GRCm39) Q207* probably null Het
Tshr A G 12: 91,472,079 (GRCm39) D143G probably benign Het
Txlna C T 4: 129,525,950 (GRCm39) R299H probably damaging Het
Ush2a A T 1: 188,176,789 (GRCm39) T1318S possibly damaging Het
Utp14b A G 1: 78,642,660 (GRCm39) K186R probably damaging Het
Vars2 C T 17: 35,969,050 (GRCm39) A884T possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp775 A G 6: 48,596,183 (GRCm39) Q19R possibly 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
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
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'- GGGCACTCCAGAATCATAATGAAC -3'
(R):5'- TTTGTCCCACAACAGCTCTGAG -3'

Sequencing Primer
(F):5'- CCAGAATCATAATGAACAGCATTTC -3'
(R):5'- CTGAGCATCAAGAGCTGTGACTTC -3'
Posted On 2019-11-26