Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Epb41'

391005

Institutional Source

Beutler Lab

Gene Symbol

Epb41

Ensembl Gene

ENSMUSG00000028906

Gene Name

erythrocyte membrane protein band 4.1

Synonyms

Epb4.1, 4.1R, D4Ertd442e, Elp1, Elp-1

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131923413-132075321 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to A at 132007435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030739] [ENSMUST00000054917] [ENSMUST00000084253] [ENSMUST00000105970] [ENSMUST00000105972] [ENSMUST00000105974] [ENSMUST00000105975] [ENSMUST00000105981] [ENSMUST00000137846] [ENSMUST00000141291]

AlphaFold

P48193

Predicted Effect

probably benign
Transcript: ENSMUST00000030739

SMART Domains

Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054917

SMART Domains

Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
Pfam:SAB	607	655	2.3e-28	PFAM
Pfam:4_1_CTD	687	801	3.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084253

SMART Domains

Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
Pfam:SAB	607	655	2.3e-28	PFAM
Pfam:4_1_CTD	687	801	3.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105970

SMART Domains

Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
B41	55	250	1.3e-80	SMART
FERM_C	254	344	1.01e-35	SMART
FA	347	393	8.99e-19	SMART
low complexity region	437	459	N/A	INTRINSIC
Pfam:SAB	476	524	1.1e-29	PFAM
Pfam:4_1_CTD	578	636	1.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105972

SMART Domains

Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105974

SMART Domains

Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	367	3.77e-50	SMART
FERM_C	371	461	1.01e-35	SMART
FA	464	510	8.99e-19	SMART
Pfam:SAB	572	620	2e-28	PFAM
Pfam:4_1_CTD	652	766	3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105975

SMART Domains

Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	232	427	1.3e-80	SMART
FERM_C	431	521	1.01e-35	SMART
FA	524	570	8.99e-19	SMART
low complexity region	619	632	N/A	INTRINSIC
Pfam:SAB	672	720	3.9e-25	PFAM
Pfam:4_1_CTD	758	865	2.6e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105981

SMART Domains

Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	661	709	1.8e-29	PFAM
Pfam:4_1_CTD	741	855	3.5e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131953

Predicted Effect

probably benign
Transcript: ENSMUST00000137846

SMART Domains

Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
B41	49	244	1.3e-80	SMART
FERM_C	248	338	1.01e-35	SMART
FA	341	387	8.99e-19	SMART
low complexity region	431	453	N/A	INTRINSIC
Pfam:SAB	470	518	1.2e-29	PFAM
Pfam:4_1_CTD	550	664	2.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141291

SMART Domains

Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906

Domain	Start	End	E-Value	Type
low complexity region	31	53	N/A	INTRINSIC
low complexity region	74	94	N/A	INTRINSIC
low complexity region	98	121	N/A	INTRINSIC
B41	207	402	1.3e-80	SMART
FERM_C	406	496	1.01e-35	SMART
FA	499	545	8.99e-19	SMART
low complexity region	594	607	N/A	INTRINSIC
Pfam:SAB	647	695	1.3e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146021

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit moderate hemolytic anemia, erythrocytic abnormalities including aberrant morphology, reduced membrane stability, and lowered expression of spectrin and ankyrin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Epb41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Epb41	APN	4	131974731	missense	probably benign
IGL00897:Epb41	APN	4	132000197	splice site	probably null
IGL00911:Epb41	APN	4	131989784	missense	possibly damaging	0.60
IGL01390:Epb41	APN	4	132003737	missense	probably benign
IGL01459:Epb41	APN	4	131964128	intron	probably benign
IGL01816:Epb41	APN	4	132003695	missense	probably benign	0.00
IGL02192:Epb41	APN	4	131929717	missense	probably damaging	0.99
IGL02296:Epb41	APN	4	132003754	missense	probably benign	0.42
IGL03011:Epb41	APN	4	132003794	missense	probably damaging	1.00
IGL03268:Epb41	APN	4	131928495	missense	probably damaging	1.00
IGL03388:Epb41	APN	4	131974794	missense	probably damaging	1.00
R0355:Epb41	UTSW	4	132000261	missense	probably damaging	0.99
R0532:Epb41	UTSW	4	131978795	splice site	probably benign
R0550:Epb41	UTSW	4	131975613	missense	probably damaging	1.00
R0571:Epb41	UTSW	4	131989904	missense	probably damaging	1.00
R1158:Epb41	UTSW	4	132000191	splice site	probably benign
R1444:Epb41	UTSW	4	132006071	missense	probably benign
R2106:Epb41	UTSW	4	131989841	missense	probably damaging	1.00
R2269:Epb41	UTSW	4	131964147	missense	probably benign	0.09
R4014:Epb41	UTSW	4	131982445	splice site	probably benign
R4017:Epb41	UTSW	4	131982445	splice site	probably benign
R4952:Epb41	UTSW	4	132000270	missense	probably damaging	0.99
R4976:Epb41	UTSW	4	131937436	unclassified	probably benign
R5119:Epb41	UTSW	4	131937436	unclassified	probably benign
R5229:Epb41	UTSW	4	131978935	missense	probably damaging	1.00
R5571:Epb41	UTSW	4	131937406	unclassified	probably benign
R6250:Epb41	UTSW	4	131989873	missense	probably damaging	1.00
R6531:Epb41	UTSW	4	131957636	missense	probably benign	0.00
R6890:Epb41	UTSW	4	131935829	missense	probably damaging	0.98
R7265:Epb41	UTSW	4	131967834	missense	unknown
R7289:Epb41	UTSW	4	131991209	critical splice donor site	probably null
R7322:Epb41	UTSW	4	131989719	missense	probably damaging	0.99
R7823:Epb41	UTSW	4	131974682	critical splice donor site	probably null
R8296:Epb41	UTSW	4	131937461	missense
R8317:Epb41	UTSW	4	131957650	missense
R8401:Epb41	UTSW	4	131974707	missense	probably damaging	1.00
R8880:Epb41	UTSW	4	131967793	missense
R9065:Epb41	UTSW	4	131955577	missense
R9414:Epb41	UTSW	4	131974851	missense	probably damaging	1.00
R9682:Epb41	UTSW	4	131928509	missense
X0066:Epb41	UTSW	4	131974740	missense	probably damaging	1.00
Z1177:Epb41	UTSW	4	132006083	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAAGTCTTCATGTGTTGGAGTGTCC -3'
(R):5'- GCATATCTTTCATGACTTAAGGCAC -3'

Sequencing Primer
(F):5'- CATTGGATGCTTTCAGCTTCTG -3'
(R):5'- GGCACTAATAATTTATTCAGGATGGG -3'

Posted On

2016-06-06