Incidental Mutation 'IGL02269:Epb41l3'
ID287049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epb41l3
Ensembl Gene ENSMUSG00000024044
Gene Nameerythrocyte membrane protein band 4.1 like 3
SynonymsDAL1P, NBL3, Epb4.1l3, 4.1B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02269
Quality Score
Status
Chromosome17
Chromosomal Location69075683-69289989 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69247573 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 223 (S223P)
Ref Sequence ENSEMBL: ENSMUSP00000108300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000225740] [ENSMUST00000225977]
Predicted Effect probably damaging
Transcript: ENSMUST00000080208
AA Change: S223P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: S223P

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
B41 114 309 1.13e-80 SMART
FERM_C 313 403 3.96e-38 SMART
FA 405 451 2.34e-17 SMART
low complexity region 497 517 N/A INTRINSIC
Pfam:SAB 556 604 2.1e-29 PFAM
low complexity region 789 802 N/A INTRINSIC
Pfam:4_1_CTD 809 922 1.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112680
AA Change: S223P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: S223P

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
low complexity region 94 107 N/A INTRINSIC
B41 114 309 1.13e-80 SMART
FERM_C 313 403 3.96e-38 SMART
FA 405 451 2.34e-17 SMART
low complexity region 497 517 N/A INTRINSIC
Pfam:SAB 566 614 3.2e-28 PFAM
low complexity region 799 812 N/A INTRINSIC
Pfam:4_1_CTD 825 931 2.9e-55 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000223703
AA Change: S22P
Predicted Effect probably benign
Transcript: ENSMUST00000224523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225604
Predicted Effect probably damaging
Transcript: ENSMUST00000225740
AA Change: S223P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225977
AA Change: S223P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,942,598 V59A unknown Het
A2ml1 C A 6: 128,553,338 probably benign Het
Akap13 G A 7: 75,602,911 R263H probably benign Het
B3galt5 A G 16: 96,315,530 D121G possibly damaging Het
Becn1 A G 11: 101,291,535 probably benign Het
Carmil1 A T 13: 24,155,410 L150* probably null Het
Cep170 A T 1: 176,769,366 M475K probably benign Het
Cyp24a1 C T 2: 170,496,572 G68D probably damaging Het
Cyp3a44 A T 5: 145,805,737 I18N probably benign Het
Dmrt2 T C 19: 25,678,459 V474A probably benign Het
Dtnb A G 12: 3,596,691 D64G probably damaging Het
Ephb2 A G 4: 136,771,049 Y240H possibly damaging Het
Extl3 T C 14: 65,077,583 Y50C probably damaging Het
Fat3 A C 9: 15,915,577 S4360A possibly damaging Het
Fbxo9 A T 9: 78,087,553 V230E probably damaging Het
Frmd4a T C 2: 4,604,234 M971T probably benign Het
Gm7275 A G 16: 48,073,822 noncoding transcript Het
Hyal6 C T 6: 24,740,859 T337I probably damaging Het
Obsl1 C T 1: 75,487,713 V1650M probably damaging Het
Olfr143 A T 9: 38,253,936 D173V possibly damaging Het
Olfr341 A T 2: 36,479,567 S188T possibly damaging Het
Olfr619 T A 7: 103,603,882 I76N probably damaging Het
Olfr860 A T 9: 19,845,728 I297N possibly damaging Het
Pcdh7 A C 5: 57,913,322 E1114A probably damaging Het
Pde8a C T 7: 81,308,802 probably benign Het
Pdzrn4 A T 15: 92,769,850 S628C probably damaging Het
Pear1 C T 3: 87,756,264 G376S probably damaging Het
Plekha6 C T 1: 133,287,849 T644M possibly damaging Het
Plpp1 T A 13: 112,856,992 C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 T793M possibly damaging Het
Rdh13 A T 7: 4,445,498 L5Q possibly damaging Het
Rimbp2 G T 5: 128,774,295 D862E probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scamp1 C T 13: 94,232,186 probably benign Het
Scamp3 A G 3: 89,180,734 T178A probably benign Het
Sh3tc1 A G 5: 35,706,284 V853A probably benign Het
Snrnp200 C T 2: 127,229,991 T1197M possibly damaging Het
Sult3a1 T C 10: 33,879,263 F275L probably benign Het
Tenm4 A T 7: 96,823,822 I905F probably damaging Het
Tgm3 T A 2: 130,024,518 S119T probably benign Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem45b G T 9: 31,427,983 C145* probably null Het
Unc5c G A 3: 141,788,982 R352H probably damaging Het
Vmn2r12 A G 5: 109,086,477 L623P probably damaging Het
Vmn2r68 T C 7: 85,221,739 M779V possibly damaging Het
Zfhx2 T C 14: 55,071,936 N902S probably benign Het
Other mutations in Epb41l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Epb41l3 APN 17 69207861 splice site probably benign
IGL01099:Epb41l3 APN 17 69210193 missense possibly damaging 0.80
IGL01578:Epb41l3 APN 17 69248709 missense probably damaging 1.00
IGL02926:Epb41l3 APN 17 69247746 missense probably damaging 1.00
IGL03397:Epb41l3 APN 17 69248692 missense probably damaging 1.00
E0370:Epb41l3 UTSW 17 69274804 missense possibly damaging 0.73
P0031:Epb41l3 UTSW 17 69259054 nonsense probably null
R0032:Epb41l3 UTSW 17 69210384 critical splice donor site probably null
R0056:Epb41l3 UTSW 17 69253397 missense probably damaging 1.00
R0092:Epb41l3 UTSW 17 69286750 missense probably damaging 1.00
R0499:Epb41l3 UTSW 17 69247659 missense probably benign 0.00
R0560:Epb41l3 UTSW 17 69274897 critical splice donor site probably null
R1164:Epb41l3 UTSW 17 69274767 missense possibly damaging 0.93
R1170:Epb41l3 UTSW 17 69259180 nonsense probably null
R1397:Epb41l3 UTSW 17 69262348 critical splice donor site probably null
R2080:Epb41l3 UTSW 17 69253468 missense possibly damaging 0.54
R2138:Epb41l3 UTSW 17 69207880 missense probably damaging 1.00
R2279:Epb41l3 UTSW 17 69270650 missense possibly damaging 0.56
R2863:Epb41l3 UTSW 17 69210321 missense probably benign 0.22
R3883:Epb41l3 UTSW 17 69274116 nonsense probably null
R3884:Epb41l3 UTSW 17 69274116 nonsense probably null
R4165:Epb41l3 UTSW 17 69207888 missense probably damaging 1.00
R4795:Epb41l3 UTSW 17 69248719 critical splice donor site probably null
R5286:Epb41l3 UTSW 17 69262273 missense probably benign 0.00
R5303:Epb41l3 UTSW 17 69257449 missense probably damaging 1.00
R5373:Epb41l3 UTSW 17 69286800 missense probably damaging 1.00
R5374:Epb41l3 UTSW 17 69286800 missense probably damaging 1.00
R5938:Epb41l3 UTSW 17 69259071 missense probably damaging 1.00
R6014:Epb41l3 UTSW 17 69283960 missense probably damaging 0.98
R6059:Epb41l3 UTSW 17 69284642 missense probably damaging 1.00
R6059:Epb41l3 UTSW 17 69286798 missense probably damaging 1.00
R7318:Epb41l3 UTSW 17 69266140 missense
R7480:Epb41l3 UTSW 17 69261872 intron probably null
R7548:Epb41l3 UTSW 17 69210276 missense probably damaging 1.00
R7719:Epb41l3 UTSW 17 69253414 missense possibly damaging 0.81
R7769:Epb41l3 UTSW 17 69238426 missense probably damaging 0.98
X0066:Epb41l3 UTSW 17 69259158 nonsense probably null
Z1088:Epb41l3 UTSW 17 69253522 missense probably damaging 1.00
Posted On2015-04-16