Incidental Mutation 'R9258:Epb41l5'
ID 701984
Institutional Source Beutler Lab
Gene Symbol Epb41l5
Ensembl Gene ENSMUSG00000026383
Gene Name erythrocyte membrane protein band 4.1 like 5
Synonyms E230025E14Rik, 1700030C16Rik, NBL5, Epb4.1l5, Lulu1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9258 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 119472767-119576730 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119506701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 489 (T489A)
Ref Sequence ENSEMBL: ENSMUSP00000128374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052404] [ENSMUST00000163147]
AlphaFold Q8BGS1
Predicted Effect probably benign
Transcript: ENSMUST00000052404
AA Change: T481A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: T481A

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 412 421 N/A INTRINSIC
coiled coil region 482 512 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163147
AA Change: T489A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: T489A

DomainStartEndE-ValueType
B41 39 235 8.64e-68 SMART
FERM_C 239 331 1.07e-34 SMART
FA 336 380 1.16e-12 SMART
low complexity region 420 429 N/A INTRINSIC
coiled coil region 490 520 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T A 8: 124,709,347 (GRCm39) Q69L probably benign Het
Abtb2 A C 2: 103,546,410 (GRCm39) Q930P probably null Het
Adam18 G A 8: 25,158,574 (GRCm39) T73I probably benign Het
Ankrd54 A T 15: 78,946,996 (GRCm39) M1K probably null Het
Anks1 T C 17: 28,277,400 (GRCm39) V1106A probably damaging Het
Aox1 A T 1: 58,351,515 (GRCm39) I701F probably damaging Het
Arfgef3 C T 10: 18,465,387 (GRCm39) R2152H probably damaging Het
Arnt2 C T 7: 84,010,798 (GRCm39) G37E probably damaging Het
Arpp21 G A 9: 111,953,956 (GRCm39) T581M probably benign Het
Arvcf A G 16: 18,216,957 (GRCm39) N428S probably damaging Het
C2cd3 A G 7: 100,098,026 (GRCm39) E1471G Het
Cadm1 A G 9: 47,710,730 (GRCm39) K211R probably benign Het
Cdh6 A G 15: 13,064,462 (GRCm39) S143P probably damaging Het
Cep152 G A 2: 125,421,356 (GRCm39) Q1125* probably null Het
Cfap54 A C 10: 92,770,960 (GRCm39) S2095A unknown Het
Col12a1 T C 9: 79,613,645 (GRCm39) T67A probably benign Het
Col6a3 T C 1: 90,700,703 (GRCm39) N3216S unknown Het
Cpeb2 T A 5: 43,391,455 (GRCm39) L217Q Het
Ctbp2 A T 7: 132,597,021 (GRCm39) N119K probably damaging Het
Des G T 1: 75,340,289 (GRCm39) V399L probably benign Het
Dnah2 G T 11: 69,368,079 (GRCm39) H1753Q probably damaging Het
Dnajc6 T C 4: 101,475,813 (GRCm39) V562A probably benign Het
Dusp13b T C 14: 21,791,155 (GRCm39) D99G probably benign Het
Ehd3 A G 17: 74,127,561 (GRCm39) I165V probably benign Het
Eme2 C T 17: 25,112,053 (GRCm39) V241M probably damaging Het
Eml5 A G 12: 98,810,376 (GRCm39) L860P possibly damaging Het
Eogt T A 6: 97,089,043 (GRCm39) K521M possibly damaging Het
Fmo5 G T 3: 97,558,802 (GRCm39) V421L probably benign Het
Gabpa C T 16: 84,653,403 (GRCm39) P268S probably benign Het
Gas2l3 G T 10: 89,262,315 (GRCm39) H136N probably benign Het
Gm5592 C T 7: 40,938,407 (GRCm39) A563V possibly damaging Het
Gpn3 A T 5: 122,519,508 (GRCm39) D205V probably benign Het
H13 T C 2: 152,522,999 (GRCm39) L104S probably damaging Het
H2-Q4 T A 17: 35,599,105 (GRCm39) V125E probably benign Het
Ifih1 A G 2: 62,442,242 (GRCm39) F374S probably damaging Het
Ildr2 A G 1: 166,131,158 (GRCm39) D338G probably damaging Het
Kmt2b A T 7: 30,281,893 (GRCm39) N1162K probably null Het
Lmntd1 T C 6: 145,359,256 (GRCm39) D298G probably damaging Het
Lrrc32 T A 7: 98,148,345 (GRCm39) V375E probably benign Het
Lrrc37a A C 11: 103,393,022 (GRCm39) I801R probably benign Het
Matcap1 A G 8: 106,008,775 (GRCm39) V414A probably damaging Het
Mgam A G 6: 40,657,121 (GRCm39) E935G probably benign Het
Mms22l A T 4: 24,588,238 (GRCm39) T917S probably damaging Het
Myo3a A T 2: 22,467,545 (GRCm39) E1204D possibly damaging Het
Nav3 T A 10: 109,550,243 (GRCm39) E1829V probably damaging Het
Nccrp1 C T 7: 28,245,632 (GRCm39) G150D probably damaging Het
Nlrp4b G T 7: 10,444,087 (GRCm39) W12L probably damaging Het
Nmb T C 7: 80,554,001 (GRCm39) T71A possibly damaging Het
Ogfod2 T A 5: 124,250,505 (GRCm39) H35Q probably benign Het
Ola1 A T 2: 72,929,732 (GRCm39) S290R probably damaging Het
Or1e30 T G 11: 73,678,281 (GRCm39) N172K probably benign Het
Or4k47 A T 2: 111,452,329 (GRCm39) I30N possibly damaging Het
Or51v15-ps1 T G 7: 103,278,543 (GRCm39) Y208S unknown Het
Or52e2 C A 7: 102,804,409 (GRCm39) E182* probably null Het
Or5p68 T G 7: 107,945,886 (GRCm39) T101P probably benign Het
Or9i14 A T 19: 13,792,099 (GRCm39) L285* probably null Het
Pcsk9 T C 4: 106,316,047 (GRCm39) D132G possibly damaging Het
Pkhd1 A T 1: 20,444,174 (GRCm39) V2296E probably damaging Het
Prl2c5 A T 13: 13,365,297 (GRCm39) I151L probably damaging Het
Prl3d3 A T 13: 27,344,931 (GRCm39) D101V possibly damaging Het
Prrt1 A G 17: 34,850,120 (GRCm39) Y178C probably damaging Het
Rasal1 A T 5: 120,793,155 (GRCm39) I87F possibly damaging Het
Rpgrip1l A T 8: 91,987,614 (GRCm39) Y814* probably null Het
Rpl3l T G 17: 24,951,447 (GRCm39) probably null Het
Rrbp1 C A 2: 143,853,161 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,364 (GRCm39) S4158P probably damaging Het
Scube2 G T 7: 109,398,515 (GRCm39) S951Y probably damaging Het
Sec14l1 T C 11: 117,041,002 (GRCm39) V396A probably benign Het
Sh3gl1 T A 17: 56,325,911 (GRCm39) K173* probably null Het
Shank3 A T 15: 89,388,521 (GRCm39) E371V probably damaging Het
Slc25a24 A G 3: 109,066,751 (GRCm39) T302A probably damaging Het
Slc25a41 A T 17: 57,348,580 (GRCm39) H4Q probably benign Het
Slc45a1 A T 4: 150,723,071 (GRCm39) V271D possibly damaging Het
Smad6 A T 9: 63,927,573 (GRCm39) L245Q probably damaging Het
Smad7 C A 18: 75,527,317 (GRCm39) Q388K probably damaging Het
Snx29 G T 16: 11,532,799 (GRCm39) D348Y possibly damaging Het
Son A T 16: 91,474,570 (GRCm39) H2418L unknown Het
Sppl3 G A 5: 115,233,922 (GRCm39) V331M probably damaging Het
St13 T G 15: 81,272,569 (GRCm39) T92P probably benign Het
St3gal4 A G 9: 34,963,643 (GRCm39) W222R probably damaging Het
Stk32a T A 18: 43,444,999 (GRCm39) N264K probably benign Het
Stoml3 T A 3: 53,405,397 (GRCm39) I26N possibly damaging Het
Taf7 T C 18: 37,776,021 (GRCm39) E182G probably damaging Het
Tas2r138 A G 6: 40,590,129 (GRCm39) V39A probably damaging Het
Tbc1d12 A G 19: 38,889,823 (GRCm39) S418G possibly damaging Het
Tbr1 T A 2: 61,642,723 (GRCm39) C663S probably benign Het
Tmc5 A T 7: 118,222,501 (GRCm39) Y67F probably benign Het
Tnfsf4 A C 1: 161,244,814 (GRCm39) I168L probably benign Het
Trav5-1 T G 14: 52,860,347 (GRCm39) S51A probably benign Het
Trmt10c A T 16: 55,854,646 (GRCm39) C330S possibly damaging Het
Trpm1 T C 7: 63,884,713 (GRCm39) M798T probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Unc13d CATGCC CATGCCTCCGATGCC 11: 115,959,007 (GRCm39) probably benign Het
Vmn1r199 A G 13: 22,566,822 (GRCm39) T39A possibly damaging Het
Vmn1r74 T A 7: 11,580,999 (GRCm39) C100S possibly damaging Het
Vmn2r77 T A 7: 86,452,302 (GRCm39) I494K possibly damaging Het
Wdr17 G A 8: 55,112,654 (GRCm39) Q816* probably null Het
Other mutations in Epb41l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Epb41l5 APN 1 119,495,577 (GRCm39) missense probably benign 0.03
IGL01983:Epb41l5 APN 1 119,506,814 (GRCm39) splice site probably benign
IGL02085:Epb41l5 APN 1 119,500,586 (GRCm39) missense probably benign
IGL02834:Epb41l5 APN 1 119,551,685 (GRCm39) missense probably benign 0.22
IGL02975:Epb41l5 APN 1 119,506,811 (GRCm39) splice site probably benign
IGL03001:Epb41l5 APN 1 119,545,374 (GRCm39) missense probably damaging 1.00
IGL03331:Epb41l5 APN 1 119,545,149 (GRCm39) missense probably damaging 1.00
R0096:Epb41l5 UTSW 1 119,551,641 (GRCm39) splice site probably benign
R0124:Epb41l5 UTSW 1 119,561,370 (GRCm39) nonsense probably null
R0128:Epb41l5 UTSW 1 119,477,632 (GRCm39) missense possibly damaging 0.81
R0130:Epb41l5 UTSW 1 119,477,632 (GRCm39) missense possibly damaging 0.81
R0241:Epb41l5 UTSW 1 119,495,509 (GRCm39) splice site probably null
R0357:Epb41l5 UTSW 1 119,536,934 (GRCm39) missense probably damaging 1.00
R0624:Epb41l5 UTSW 1 119,551,688 (GRCm39) missense probably damaging 1.00
R0711:Epb41l5 UTSW 1 119,551,641 (GRCm39) splice site probably benign
R0848:Epb41l5 UTSW 1 119,477,684 (GRCm39) missense probably benign 0.01
R1340:Epb41l5 UTSW 1 119,476,861 (GRCm39) makesense probably null
R1401:Epb41l5 UTSW 1 119,506,634 (GRCm39) splice site probably benign
R1416:Epb41l5 UTSW 1 119,477,606 (GRCm39) splice site probably benign
R1452:Epb41l5 UTSW 1 119,476,896 (GRCm39) missense probably damaging 1.00
R1646:Epb41l5 UTSW 1 119,477,752 (GRCm39) splice site probably benign
R1889:Epb41l5 UTSW 1 119,476,902 (GRCm39) missense possibly damaging 0.82
R1895:Epb41l5 UTSW 1 119,476,902 (GRCm39) missense possibly damaging 0.82
R3082:Epb41l5 UTSW 1 119,536,992 (GRCm39) missense probably damaging 1.00
R3742:Epb41l5 UTSW 1 119,532,973 (GRCm39) missense probably benign
R4194:Epb41l5 UTSW 1 119,535,823 (GRCm39) missense probably damaging 1.00
R4787:Epb41l5 UTSW 1 119,523,725 (GRCm39) missense probably benign 0.00
R4983:Epb41l5 UTSW 1 119,482,801 (GRCm39) missense probably benign 0.00
R6825:Epb41l5 UTSW 1 119,547,931 (GRCm39) missense possibly damaging 0.54
R6943:Epb41l5 UTSW 1 119,536,859 (GRCm39) missense probably damaging 1.00
R6944:Epb41l5 UTSW 1 119,536,859 (GRCm39) missense probably damaging 1.00
R7334:Epb41l5 UTSW 1 119,551,679 (GRCm39) missense probably damaging 1.00
R8553:Epb41l5 UTSW 1 119,477,671 (GRCm39) missense possibly damaging 0.88
R8904:Epb41l5 UTSW 1 119,547,936 (GRCm39) missense probably damaging 1.00
R8955:Epb41l5 UTSW 1 119,570,292 (GRCm39) missense probably damaging 1.00
R9147:Epb41l5 UTSW 1 119,570,319 (GRCm39) missense probably damaging 1.00
R9351:Epb41l5 UTSW 1 119,477,639 (GRCm39) missense probably benign 0.01
R9366:Epb41l5 UTSW 1 119,548,448 (GRCm39) missense probably damaging 1.00
R9370:Epb41l5 UTSW 1 119,561,312 (GRCm39) missense probably damaging 1.00
R9680:Epb41l5 UTSW 1 119,535,804 (GRCm39) missense probably damaging 1.00
R9779:Epb41l5 UTSW 1 119,545,093 (GRCm39) critical splice donor site probably null
Z1177:Epb41l5 UTSW 1 119,536,941 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCCTCCAAGTTGCTTCAG -3'
(R):5'- CAGGCAGTCGTAAGGTTCAC -3'

Sequencing Primer
(F):5'- AAGTTGCTTCAGGTCTCCACATG -3'
(R):5'- TTGAAAGGTGAATAAAGCCAGTTC -3'
Posted On 2022-03-25