Mutagenetix > Incidental Mutation

Incidental Mutation 'R0550:Epb41'

45076

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

038742-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0550 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131923413-132075321 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131975613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 464 (I464T)

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 damaging
Transcript: ENSMUST00000030739
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030739
Gene: ENSMUSG00000028906
AA Change: I464T

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 damaging
Transcript: ENSMUST00000054917
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060375
Gene: ENSMUSG00000028906
AA Change: I464T

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 damaging
Transcript: ENSMUST00000084253
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081274
Gene: ENSMUSG00000028906
AA Change: I464T

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 damaging
Transcript: ENSMUST00000105970
AA Change: I312T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101590
Gene: ENSMUSG00000028906
AA Change: I312T

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 damaging
Transcript: ENSMUST00000105972
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101592
Gene: ENSMUSG00000028906
AA Change: I464T

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 damaging
Transcript: ENSMUST00000105974
AA Change: I429T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101594
Gene: ENSMUSG00000028906
AA Change: I429T

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 damaging
Transcript: ENSMUST00000105975
AA Change: I489T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101595
Gene: ENSMUSG00000028906
AA Change: I489T

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 damaging
Transcript: ENSMUST00000105981
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101601
Gene: ENSMUSG00000028906
AA Change: I464T

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 damaging
Transcript: ENSMUST00000137846
AA Change: I306T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123623
Gene: ENSMUSG00000028906
AA Change: I306T

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 damaging
Transcript: ENSMUST00000141291
AA Change: I464T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120236
Gene: ENSMUSG00000028906
AA Change: I464T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212761
AA Change: I186T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.9249

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,840	Y947N	probably damaging	Het
Acss3	C	A	10: 107,053,471	G163C	probably damaging	Het
Adcy10	A	G	1: 165,565,315	T1367A	probably benign	Het
Adcy2	A	T	13: 68,982,361	S136T	probably benign	Het
Ahdc1	G	A	4: 133,063,037	V530I	probably benign	Het
Aldh16a1	C	T	7: 45,146,229		probably null	Het
Ankrd36	T	C	11: 5,607,429		probably null	Het
Aqr	A	C	2: 114,132,976	N664K	probably damaging	Het
Atp6v1c1	T	C	15: 38,682,929		probably benign	Het
Atp8b2	C	T	3: 89,959,061		probably benign	Het
Bbx	T	C	16: 50,274,533		probably benign	Het
Bmper	T	A	9: 23,373,885	D243E	probably benign	Het
Casz1	GCCACCACCACCACCACCACCAC	GCCACCACCACCACCACCAC	4: 148,952,284		probably benign	Het
Catsperd	T	C	17: 56,663,427		probably null	Het
Ccdc92b	T	A	11: 74,629,945		probably null	Het
Cd2bp2	G	T	7: 127,193,824	T342K	probably damaging	Het
Clrn3	T	A	7: 135,528,425	I27F	possibly damaging	Het
Cnih3	TTGACGAG	T	1: 181,406,477		probably null	Het
Cntnap3	T	C	13: 64,762,000	T764A	possibly damaging	Het
Cttnbp2	T	G	6: 18,435,309	K183N	possibly damaging	Het
Cwc27	G	A	13: 104,804,949	P155L	probably damaging	Het
Dcaf10	T	C	4: 45,372,753	S389P	probably benign	Het
Ddx18	T	C	1: 121,555,375	K561E	probably benign	Het
Dkk3	A	G	7: 112,158,245	F51L	probably damaging	Het
Dnaic1	C	T	4: 41,596,274	R20*	probably null	Het
Dr1	G	A	5: 108,269,605	G6S	probably benign	Het
Dync2h1	A	T	9: 7,120,954		probably null	Het
Eif3l	A	G	15: 79,076,867	Y16C	probably damaging	Het
Erc2	A	G	14: 28,271,651	K546E	possibly damaging	Het
F830045P16Rik	T	C	2: 129,463,509	D315G	probably damaging	Het
Fads6	A	G	11: 115,296,677	I64T	probably benign	Het
Fshr	T	C	17: 89,045,125	N107S	probably benign	Het
Gbp11	A	T	5: 105,343,750	N60K	probably benign	Het
Gm2a	C	T	11: 55,103,665	Q54*	probably null	Het
Hydin	A	G	8: 110,587,775	D4297G	probably benign	Het
Il6st	G	A	13: 112,475,114		probably null	Het
Inpp4b	T	A	8: 81,997,337	H499Q	probably benign	Het
Kif5c	A	G	2: 49,758,912	K956R	possibly damaging	Het
Krt74	G	A	15: 101,760,679		noncoding transcript	Het
Map3k9	A	T	12: 81,725,781	L649Q	probably damaging	Het
Mdn1	A	G	4: 32,730,479	D2871G	probably benign	Het
Mylk4	T	C	13: 32,716,666	T294A	probably benign	Het
Nbeal2	C	T	9: 110,642,158	V252I	probably benign	Het
Nectin3	A	G	16: 46,458,820	I265T	possibly damaging	Het
Olfr1065	A	T	2: 86,445,876	Y35*	probably null	Het
Olfr1109	G	T	2: 87,093,129	H89Q	probably benign	Het
Olfr1259	A	G	2: 89,943,389	I242T	probably damaging	Het
Olfr1447	A	T	19: 12,901,800		probably null	Het
Olfr181	A	G	16: 58,926,385	F62S	probably damaging	Het
Olfr554	G	A	7: 102,640,950	E235K	possibly damaging	Het
Olfr910	T	A	9: 38,539,380	C162S	probably damaging	Het
Opn1sw	A	T	6: 29,380,204	L71Q	probably damaging	Het
Pced1a	G	A	2: 130,419,633	P367S	probably benign	Het
Pkhd1	A	T	1: 20,347,223	M2568K	probably null	Het
Pla2r1	A	G	2: 60,425,350		probably null	Het
Plpp1	T	C	13: 112,834,985	I62T	probably benign	Het
Polr3g	G	A	13: 81,694,773	T41I	probably damaging	Het
Ptch2	T	C	4: 117,096,433		probably benign	Het
Sema4g	A	T	19: 44,997,665	H315L	probably benign	Het
Setd1b	G	T	5: 123,157,660	S1097I	unknown	Het
Sfxn4	A	G	19: 60,850,945		probably benign	Het
Sh3tc1	T	C	5: 35,699,784	E1237G	probably damaging	Het
Slc25a38	A	T	9: 120,123,643	N287I	probably benign	Het
Slc25a48	A	G	13: 56,448,998	T31A	probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	A	G	5: 120,531,155		probably benign	Het
Slco4c1	A	C	1: 96,867,859	V158G	probably damaging	Het
Sptbn4	T	C	7: 27,364,378	T2208A	probably benign	Het
Srebf1	G	A	11: 60,201,676	T843I	probably benign	Het
Srl	A	G	16: 4,487,565	W101R	probably damaging	Het
St6galnac4	T	A	2: 32,594,019	C76*	probably null	Het
Tdrd3	C	A	14: 87,486,220	T290K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trpm3	A	G	19: 22,987,812	E1547G	probably damaging	Het
Ubn1	A	G	16: 5,062,620		probably null	Het
Usp10	T	A	8: 119,947,801	I456K	probably damaging	Het
Usp6nl	A	G	2: 6,400,323		probably benign	Het
Vit	T	A	17: 78,624,793	V443E	possibly damaging	Het
Whamm	G	A	7: 81,586,224	V392I	possibly damaging	Het
Zfhx4	A	G	3: 5,400,494	K1904R	probably damaging	Het
Zfp352	A	T	4: 90,224,690	T356S	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
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
R5058:Epb41	UTSW	4	132007435	utr 5 prime	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'- TACAGTGCATGGAAAGGCACCG -3'
(R):5'- TGGACAAAACCTCCATTGCTGAGC -3'

Sequencing Primer
(F):5'- TGCTTTCCAGCCAAAAGAGG -3'
(R):5'- agcagatggtggtgcgg -3'

Posted On

2013-06-11