Mutagenetix > Incidental Mutation

Incidental Mutation 'R4610:Epb41l1'

344579

Institutional Source

Beutler Lab

Gene Symbol

Epb41l1

Ensembl Gene

ENSMUSG00000027624

Gene Name

erythrocyte membrane protein band 4.1 like 1

Synonyms

Epb4.1l1, 4.1N

MMRRC Submission

041821-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156420909-156543214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156509261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 418 (E418D)

Ref Sequence

ENSEMBL: ENSMUSP00000105202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029155] [ENSMUST00000103135] [ENSMUST00000103136] [ENSMUST00000103137] [ENSMUST00000109572] [ENSMUST00000109574] [ENSMUST00000109577] [ENSMUST00000125153]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029155
AA Change: E418D

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	459	472	N/A	INTRINSIC
Pfam:SAB	493	544	8.4e-25	PFAM
low complexity region	606	615	N/A	INTRINSIC
Pfam:4_1_CTD	770	867	5.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103135
AA Change: E418D

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	459	472	N/A	INTRINSIC
Pfam:SAB	493	544	5.9e-25	PFAM
low complexity region	606	615	N/A	INTRINSIC
Pfam:4_1_CTD	740	866	1.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103136
AA Change: E418D

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	459	472	N/A	INTRINSIC
Pfam:SAB	493	544	8.4e-25	PFAM
low complexity region	606	615	N/A	INTRINSIC
Pfam:4_1_CTD	770	867	5.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103137
AA Change: E418D

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	459	472	N/A	INTRINSIC
Pfam:SAB	493	544	5.9e-25	PFAM
low complexity region	606	615	N/A	INTRINSIC
Pfam:4_1_CTD	740	866	1.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109572
AA Change: E345D

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105200
Gene: ENSMUSG00000027624
AA Change: E345D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	215	5.6e-12	SMART
FERM_C	219	309	1.2e-43	SMART
FA	311	357	9e-22	SMART
low complexity region	386	399	N/A	INTRINSIC
Pfam:SAB	408	459	2.2e-21	PFAM
Pfam:4_1_CTD	514	619	1.3e-43	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109574
AA Change: E418D

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	458	471	N/A	INTRINSIC
Pfam:SAB	480	531	4.8e-24	PFAM
Pfam:4_1_CTD	610	718	4.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109577
AA Change: E418D

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	459	472	N/A	INTRINSIC
Pfam:SAB	481	532	5.9e-24	PFAM
low complexity region	594	603	N/A	INTRINSIC
Pfam:4_1_CTD	758	855	5.8e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125153
AA Change: E418D

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: E418D

Domain	Start	End	E-Value	Type
low complexity region	14	35	N/A	INTRINSIC
B41	93	288	6.19e-78	SMART
FERM_C	292	382	2.47e-39	SMART
FA	384	430	1.9e-17	SMART
low complexity region	458	471	N/A	INTRINSIC
Pfam:SAB	492	543	7.4e-25	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000144013
AA Change: E112D

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (121/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit no obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
Aars2	T	A	17: 45,516,921	D555E	probably damaging	Het
Adgre1	C	A	17: 57,450,073	Q777K	possibly damaging	Het
Agpat4	G	A	17: 12,210,377		probably null	Het
Ak7	G	A	12: 105,713,575	V123M	probably benign	Het
Ankle1	AT	A	8: 71,407,207		probably benign	Het
Ankrd44	T	G	1: 54,766,748		probably benign	Het
Aprt	A	T	8: 122,575,415		probably null	Het
Aptx	T	C	4: 40,702,766		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Bbip1	T	C	19: 53,932,175	M1V	probably null	Het
Cacng7	T	A	7: 3,336,691	M36K	probably benign	Het
Camta1	A	G	4: 151,084,827	W156R	probably damaging	Het
Casd1	G	A	6: 4,631,165		probably null	Het
Casz1	T	A	4: 148,933,267	Y338N	probably damaging	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Celf2	G	T	2: 6,586,020	N279K	possibly damaging	Het
Cit	A	G	5: 115,994,087	T1801A	probably benign	Het
Cnot2	A	G	10: 116,499,418	I275T	probably damaging	Het
Ddx4	T	C	13: 112,612,060	K435E	probably damaging	Het
Dnajc6	T	C	4: 101,611,264	F166L	probably damaging	Het
Dst	T	C	1: 34,169,856	L820P	probably damaging	Het
Dusp11	T	A	6: 85,950,055	N193Y	probably damaging	Het
Eif3m	A	T	2: 105,013,288	N116K	probably benign	Het
Esyt2	T	G	12: 116,318,890	N153K	probably damaging	Het
Exoc6b	T	G	6: 85,003,159		probably benign	Het
Ezr	C	T	17: 6,739,722	E502K	possibly damaging	Het
Fbxw11	T	A	11: 32,711,859	Y66N	possibly damaging	Het
Frem2	A	G	3: 53,547,807	L2116S	possibly damaging	Het
Fry	T	C	5: 150,386,104	L671P	probably damaging	Het
Galnt7	A	G	8: 57,545,769	I262T	probably damaging	Het
Glp1r	T	C	17: 30,931,247	F381S	probably benign	Het
Gm3867	T	C	9: 36,257,271		noncoding transcript	Het
Gm5662	T	C	12: 88,271,774	N72S	probably benign	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Golgb1	A	G	16: 36,918,625	D2442G	probably damaging	Het
Gp1bb	A	T	16: 18,621,143	L67Q	probably damaging	Het
Gstm7	G	A	3: 107,926,919	T206I	possibly damaging	Het
Hist1h2bf	A	T	13: 23,574,057	V45E	possibly damaging	Het
Hs3st5	A	T	10: 36,828,806	D35V	probably benign	Het
Hspa13	T	C	16: 75,761,302	H125R	probably benign	Het
Hspa1a	T	G	17: 34,971,180	H249P	probably damaging	Het
Igkv10-95	A	T	6: 68,680,578	Q6L	probably damaging	Het
Il1rap	T	A	16: 26,714,776	L474H	probably benign	Het
Ipo11	T	A	13: 106,879,737	Y489F	probably benign	Het
Itga5	A	G	15: 103,350,832	Y723H	probably damaging	Het
Itih2	T	C	2: 10,105,160	N594S	probably damaging	Het
Itk	T	A	11: 46,336,515	Q427L	probably benign	Het
Kif26b	A	G	1: 178,679,355	Y332C	probably damaging	Het
Kmt2c	G	A	5: 25,354,384	R1086W	probably damaging	Het
Ktn1	T	A	14: 47,726,179		probably benign	Het
Lars2	T	A	9: 123,418,693	I305N	probably damaging	Het
Lgmn	G	T	12: 102,400,124		probably benign	Het
Ltbp4	C	T	7: 27,306,700	E1453K	probably damaging	Het
Lypd8	G	A	11: 58,386,849	M152I	probably benign	Het
Man2a1	T	A	17: 64,712,459	S773T	probably benign	Het
Map2k6	T	G	11: 110,499,474	L278R	probably damaging	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Mms19	A	G	19: 41,945,496	V811A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtcl1	T	A	17: 66,377,887	H520L	probably benign	Het
Mymk	A	T	2: 27,062,707	F130I	probably damaging	Het
Myo1f	C	T	17: 33,582,332	R333C	probably damaging	Het
Myo9a	T	A	9: 59,871,882	H1640Q	probably benign	Het
Nav1	A	G	1: 135,592,448		probably benign	Het
Ncbp3	G	T	11: 73,079,018	G564C	probably damaging	Het
Ncoa4	A	T	14: 32,176,725	I501L	probably benign	Het
Ngp	T	A	9: 110,420,815	N60K	possibly damaging	Het
Npc1l1	G	T	11: 6,228,215	D398E	probably damaging	Het
Nphs2	T	A	1: 156,326,131	M264K	probably damaging	Het
Olfr1193	G	A	2: 88,677,896	V14I	probably benign	Het
Olfr1193	T	G	2: 88,678,179	V101G	probably benign	Het
Olfr145	T	A	9: 37,898,326	S307R	probably benign	Het
Olfr58	T	A	9: 19,783,146	Y4*	probably null	Het
Patz1	A	G	11: 3,306,241	Y509C	probably damaging	Het
Pax8	G	A	2: 24,421,583	P447S	probably damaging	Het
Pde11a	A	G	2: 76,158,333	V488A	probably benign	Het
Pex11g	C	T	8: 3,465,899	V45M	probably benign	Het
Pik3ip1	T	A	11: 3,333,327	S142R	probably damaging	Het
Pitpnm2	C	G	5: 124,125,371	A819P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plin4	T	A	17: 56,105,418	M538L	probably benign	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Rev1	T	C	1: 38,053,649	E1202G	probably damaging	Het
Rngtt	T	A	4: 33,339,133		probably benign	Het
Serpinb12	T	A	1: 106,949,153	D66E	probably benign	Het
Sgsm1	A	T	5: 113,255,307	F958Y	probably damaging	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Sorl1	C	T	9: 42,031,914	V889M	possibly damaging	Het
Sptlc3	G	A	2: 139,636,680	V520I	probably benign	Het
Stam	A	T	2: 14,115,858	H53L	probably damaging	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Tarbp1	A	G	8: 126,474,330	Y246H	probably damaging	Het
Tbx15	A	G	3: 99,352,367	Y518C	probably damaging	Het
Tdrd5	T	A	1: 156,284,374	T479S	probably benign	Het
Tescl	T	C	7: 24,333,258	E214G	probably damaging	Het
Tex10	T	C	4: 48,452,946	D671G	probably benign	Het
Tmem132d	A	G	5: 127,984,296	V414A	probably benign	Het
Tmem41b	T	A	7: 109,974,734		probably benign	Het
Tnfrsf18	A	G	4: 156,021,880		probably benign	Het
Tulp4	T	A	17: 6,198,833	D42E	probably damaging	Het
Ubtd1	A	G	19: 42,033,664	N125S	probably damaging	Het
Ubxn4	T	A	1: 128,255,449	F68I	probably benign	Het
Urb1	A	G	16: 90,776,271	S958P	probably benign	Het
Vash2	T	C	1: 190,960,301	S226G	probably benign	Het
Vmn2r120	C	T	17: 57,509,120	G745E	probably damaging	Het
Vmn2r58	T	A	7: 41,837,693	I593F	probably benign	Het
Zfp398	T	C	6: 47,840,427	L67P	probably damaging	Het
Zfp607b	T	A	7: 27,703,695	H525Q	probably damaging	Het
Zfp629	T	C	7: 127,612,320	T106A	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zic5	T	A	14: 122,464,800	D173V	probably damaging	Het
Zranb2	G	A	3: 157,541,884		probably benign	Het

Other mutations in Epb41l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Epb41l1	APN	2	156525019	missense	probably damaging	1.00
IGL00852:Epb41l1	APN	2	156503718	missense	probably damaging	1.00
IGL02148:Epb41l1	APN	2	156511828	intron	probably benign
IGL02164:Epb41l1	APN	2	156494949	splice site	probably benign
IGL02515:Epb41l1	APN	2	156537013	missense	probably damaging	1.00
R0787:Epb41l1	UTSW	2	156494090	missense	probably damaging	0.98
R1450:Epb41l1	UTSW	2	156511825	intron	probably benign
R1566:Epb41l1	UTSW	2	156521959	missense	probably benign	0.06
R1759:Epb41l1	UTSW	2	156521974	missense	probably benign	0.06
R1812:Epb41l1	UTSW	2	156496511	missense	probably damaging	1.00
R1908:Epb41l1	UTSW	2	156510817	missense	possibly damaging	0.80
R2152:Epb41l1	UTSW	2	156514128	missense	probably damaging	1.00
R3023:Epb41l1	UTSW	2	156514209	missense	probably damaging	0.99
R4178:Epb41l1	UTSW	2	156521557	missense	probably benign
R4491:Epb41l1	UTSW	2	156522168	missense	probably benign	0.00
R4770:Epb41l1	UTSW	2	156529424	missense	probably benign	0.00
R5038:Epb41l1	UTSW	2	156521410	missense	probably benign	0.12
R5049:Epb41l1	UTSW	2	156524939	missense	possibly damaging	0.95
R5129:Epb41l1	UTSW	2	156509281	missense	possibly damaging	0.80
R5624:Epb41l1	UTSW	2	156533771	splice site	probably benign
R5780:Epb41l1	UTSW	2	156496525	missense	probably damaging	1.00
R5810:Epb41l1	UTSW	2	156499655	missense	probably damaging	1.00
R5952:Epb41l1	UTSW	2	156503788	missense	probably damaging	1.00
R5952:Epb41l1	UTSW	2	156524983	missense	probably benign
R5961:Epb41l1	UTSW	2	156521786	missense	probably benign	0.25
R6118:Epb41l1	UTSW	2	156522477	missense	probably benign	0.13
R6496:Epb41l1	UTSW	2	156533796	missense	possibly damaging	0.92
R6861:Epb41l1	UTSW	2	156525222	missense	probably benign
R6959:Epb41l1	UTSW	2	156499587	missense	probably benign	0.03
R7009:Epb41l1	UTSW	2	156534683	splice site	probably null
R7036:Epb41l1	UTSW	2	156529402	missense	probably benign
R7046:Epb41l1	UTSW	2	156526892	missense	possibly damaging	0.56
R7263:Epb41l1	UTSW	2	156495123	critical splice donor site	probably null
R7322:Epb41l1	UTSW	2	156503851	missense	probably damaging	0.98
R7398:Epb41l1	UTSW	2	156534762	missense	probably damaging	1.00
R7914:Epb41l1	UTSW	2	156522208	missense	probably benign	0.03
R8039:Epb41l1	UTSW	2	156506412	missense	probably damaging	0.99
R8357:Epb41l1	UTSW	2	156525251	missense	probably benign	0.16
R8415:Epb41l1	UTSW	2	156526953	missense	probably benign	0.00
R8457:Epb41l1	UTSW	2	156525251	missense	probably benign	0.16
R8458:Epb41l1	UTSW	2	156521764	missense	probably benign	0.00
R8475:Epb41l1	UTSW	2	156522230	missense	probably damaging	0.98
R8790:Epb41l1	UTSW	2	156503802	missense	possibly damaging	0.62
R8851:Epb41l1	UTSW	2	156522511	missense	probably benign	0.03
R8898:Epb41l1	UTSW	2	156493949	missense	probably damaging	0.97
R8955:Epb41l1	UTSW	2	156522003	missense	probably benign	0.01
R8988:Epb41l1	UTSW	2	156521671	missense	probably benign	0.25
R9060:Epb41l1	UTSW	2	156503759	nonsense	probably null
R9121:Epb41l1	UTSW	2	156522567	missense	probably benign
R9602:Epb41l1	UTSW	2	156525148	missense	probably damaging	0.99
R9644:Epb41l1	UTSW	2	156525245	missense	possibly damaging	0.51
R9690:Epb41l1	UTSW	2	156514118	missense	probably damaging	0.99
X0065:Epb41l1	UTSW	2	156509277	missense	probably damaging	1.00
Z1177:Epb41l1	UTSW	2	156508827	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GACCTTGGGCCTGGAAATAC -3'
(R):5'- GTGCAAATGACCTTGAAGCATC -3'

Sequencing Primer
(F):5'- GGAAATACAAGTTTGGTTCCTACCCC -3'
(R):5'- ACAATACTACTACCGGCTGTCTC -3'

Posted On

2015-09-25