Mutagenetix > Incidental Mutation

Incidental Mutation 'R6861:Epb41l1'

535493

Institutional Source

Beutler Lab

Gene Symbol

Epb41l1

Ensembl Gene

ENSMUSG00000027624

Gene Name

erythrocyte membrane protein band 4.1 like 1

Synonyms

4.1N, Epb4.1l1

MMRRC Submission

044962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156262829-156385134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156367142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 658 (E658D)

Ref Sequence

ENSEMBL: ENSMUSP00000105205 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029155
AA Change: E670D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: E670D

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: ENSMUST00000103136
AA Change: E670D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: E670D

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: E670D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: E670D

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: ENSMUST00000109574

SMART Domains

Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624

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: E658D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: E658D

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

SMART Domains

Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	A	3: 95,588,194 (GRCm39)	R598C	probably damaging	Het
Adra2a	T	C	19: 54,034,818 (GRCm39)	L58P	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Alox5ap	A	G	5: 149,201,927 (GRCm39)	D2G	probably damaging	Het
Arid1b	G	A	17: 5,377,961 (GRCm39)	V1238M	possibly damaging	Het
Bank1	A	G	3: 135,960,764 (GRCm39)	V31A	probably benign	Het
Bptf	G	A	11: 106,953,391 (GRCm39)	T2117M	probably damaging	Het
Cadps	G	A	14: 12,522,401 (GRCm38)	R588*	probably null	Het
Cavin4	A	G	4: 48,672,214 (GRCm39)	I220V	probably benign	Het
Cep192	G	A	18: 67,974,699 (GRCm39)	M1267I	probably benign	Het
Cers5	G	A	15: 99,670,244 (GRCm39)		probably benign	Het
Cfap65	A	T	1: 74,964,274 (GRCm39)	I558N	probably damaging	Het
Cfh	A	T	1: 140,028,621 (GRCm39)	S1025T	probably benign	Het
Cftr	A	G	6: 18,268,107 (GRCm39)	I689V	probably benign	Het
Cgrrf1	T	C	14: 47,069,785 (GRCm39)	I18T	probably damaging	Het
CK137956	A	G	4: 127,864,519 (GRCm39)	S37P	probably damaging	Het
Clca4a	T	C	3: 144,676,416 (GRCm39)	D88G	probably benign	Het
Col11a1	G	A	3: 113,961,141 (GRCm39)	G1166D	probably damaging	Het
Col24a1	G	A	3: 145,166,589 (GRCm39)	G1075S	probably damaging	Het
Crispld2	C	T	8: 120,752,852 (GRCm39)	T299M	probably damaging	Het
Cyb561a3	T	A	19: 10,562,701 (GRCm39)	Y114N	probably damaging	Het
Cyp3a57	T	A	5: 145,307,773 (GRCm39)	W147R	possibly damaging	Het
Dnah2	C	A	11: 69,346,789 (GRCm39)	R2599L	possibly damaging	Het
Dock1	T	A	7: 134,373,207 (GRCm39)	S525T	probably benign	Het
Drc7	T	G	8: 95,789,025 (GRCm39)		probably null	Het
Efhd2	G	T	4: 141,587,192 (GRCm39)		probably null	Het
Evi5	C	T	5: 107,896,184 (GRCm39)	S753N	probably benign	Het
Exoc3	A	T	13: 74,337,319 (GRCm39)	D427E	probably benign	Het
Fbxw9	A	G	8: 85,792,740 (GRCm39)	D363G	probably damaging	Het
Fcer2a	T	C	8: 3,732,910 (GRCm39)	Y277C	probably damaging	Het
Fstl5	A	T	3: 76,229,523 (GRCm39)	Y108F	probably damaging	Het
Gcn1	A	G	5: 115,749,108 (GRCm39)	D1880G	probably benign	Het
Gm4924	T	A	10: 82,214,948 (GRCm39)	Y915*	probably null	Het
Gpr139	T	A	7: 118,743,875 (GRCm39)	I237F	probably benign	Het
Hao2	A	G	3: 98,784,498 (GRCm39)	L289S	probably damaging	Het
Hexim1	A	G	11: 103,007,793 (GRCm39)	S16G	probably benign	Het
Hmgcs1	T	A	13: 120,161,535 (GRCm39)	M109K	probably damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Hsd3b5	T	A	3: 98,529,328 (GRCm39)	N101Y	probably damaging	Het
Idh2	G	A	7: 79,747,966 (GRCm39)	P245S	probably damaging	Het
Irx3	A	G	8: 92,525,530 (GRCm39)		probably benign	Het
Lilra5	A	T	7: 4,244,931 (GRCm39)	D234V	probably benign	Het
Lrfn5	G	A	12: 61,886,476 (GRCm39)	S88N	probably damaging	Het
Lrp2	A	T	2: 69,343,721 (GRCm39)	S879R	possibly damaging	Het
Lsm11	A	G	11: 45,824,781 (GRCm39)	S249P	probably benign	Het
Ltbp1	C	T	17: 75,534,187 (GRCm39)	A543V	possibly damaging	Het
Mbd1	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,645 (GRCm39)			Het
Mier2	C	T	10: 79,376,990 (GRCm39)		probably benign	Het
Mup6	G	C	4: 60,004,093 (GRCm39)	G70A	probably benign	Het
Neb	A	G	2: 52,085,732 (GRCm39)	L5258P	probably damaging	Het
Nlrc5	G	A	8: 95,247,857 (GRCm39)		probably benign	Het
Nr6a1	A	T	2: 38,630,597 (GRCm39)	F207I	possibly damaging	Het
Or2y1	A	T	11: 49,385,632 (GRCm39)	T91S	probably benign	Het
Or5k17	A	T	16: 58,746,867 (GRCm39)	D22E	probably benign	Het
Or8b43	T	C	9: 38,360,731 (GRCm39)	C188R	probably damaging	Het
Osbp2	A	G	11: 3,665,191 (GRCm39)	V51A	possibly damaging	Het
Papln	G	T	12: 83,821,723 (GRCm39)	C317F	probably damaging	Het
Pdcd7	T	C	9: 65,265,904 (GRCm39)	S454P	probably damaging	Het
Pde4a	C	T	9: 21,116,597 (GRCm39)	T473I	probably damaging	Het
Peg10	CC	CCCCATCAGGC	6: 4,756,350 (GRCm39)		probably benign	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,385 (GRCm39)	S279*	probably null	Het
Rbl1	A	G	2: 156,994,887 (GRCm39)	Y929H	probably damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall3	C	A	18: 81,017,590 (GRCm39)	E113*	probably null	Het
Scn5a	A	C	9: 119,359,089 (GRCm39)	F653V	probably damaging	Het
Selenok	T	A	14: 29,692,005 (GRCm39)	N14K	possibly damaging	Het
Slc22a20	T	C	19: 6,021,838 (GRCm39)	T426A	probably benign	Het
Slc4a2	T	A	5: 24,640,007 (GRCm39)	S563T	probably damaging	Het
Sspo	T	A	6: 48,464,889 (GRCm39)	S3798T	probably benign	Het
Stag3	G	T	5: 138,302,969 (GRCm39)	R63L	possibly damaging	Het
Stard9	A	T	2: 120,535,667 (GRCm39)	M3975L	probably benign	Het
Syne2	C	A	12: 75,956,040 (GRCm39)	T582K	probably damaging	Het
Synj1	G	A	16: 90,760,768 (GRCm39)	Q748*	probably null	Het
Tas2r109	T	C	6: 132,957,048 (GRCm39)	D294G	probably benign	Het
Tbl1xr1	C	T	3: 22,245,603 (GRCm39)	T203M	possibly damaging	Het
Tbl1xr1	T	A	3: 22,245,703 (GRCm39)		probably null	Het
Tcf7l2	A	G	19: 55,730,955 (GRCm39)	D19G	probably damaging	Het
Tecta	A	G	9: 42,248,633 (GRCm39)	V1923A	possibly damaging	Het
Tg	T	A	15: 66,560,740 (GRCm39)	M1034K	probably benign	Het
Ttf2	T	C	3: 100,876,941 (GRCm39)	E8G	possibly damaging	Het
Vps13b	T	A	15: 35,576,541 (GRCm39)	V983E	probably damaging	Het
Vps35l	A	G	7: 118,342,898 (GRCm39)	H32R	probably damaging	Het
Vwa2	T	C	19: 56,890,025 (GRCm39)	V210A	probably benign	Het
Xkr6	T	A	14: 64,057,093 (GRCm39)	Y335N	probably benign	Het
Zfp97	A	G	17: 17,365,437 (GRCm39)	H312R	probably damaging	Het

Other mutations in Epb41l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Epb41l1	APN	2	156,366,939 (GRCm39)	missense	probably damaging	1.00
IGL00852:Epb41l1	APN	2	156,345,638 (GRCm39)	missense	probably damaging	1.00
IGL02148:Epb41l1	APN	2	156,353,748 (GRCm39)	intron	probably benign
IGL02164:Epb41l1	APN	2	156,336,869 (GRCm39)	splice site	probably benign
IGL02515:Epb41l1	APN	2	156,378,933 (GRCm39)	missense	probably damaging	1.00
R0787:Epb41l1	UTSW	2	156,336,010 (GRCm39)	missense	probably damaging	0.98
R1450:Epb41l1	UTSW	2	156,353,745 (GRCm39)	intron	probably benign
R1566:Epb41l1	UTSW	2	156,363,879 (GRCm39)	missense	probably benign	0.06
R1759:Epb41l1	UTSW	2	156,363,894 (GRCm39)	missense	probably benign	0.06
R1812:Epb41l1	UTSW	2	156,338,431 (GRCm39)	missense	probably damaging	1.00
R1908:Epb41l1	UTSW	2	156,352,737 (GRCm39)	missense	possibly damaging	0.80
R2152:Epb41l1	UTSW	2	156,356,048 (GRCm39)	missense	probably damaging	1.00
R3023:Epb41l1	UTSW	2	156,356,129 (GRCm39)	missense	probably damaging	0.99
R4178:Epb41l1	UTSW	2	156,363,477 (GRCm39)	missense	probably benign
R4491:Epb41l1	UTSW	2	156,364,088 (GRCm39)	missense	probably benign	0.00
R4610:Epb41l1	UTSW	2	156,351,181 (GRCm39)	missense	possibly damaging	0.71
R4770:Epb41l1	UTSW	2	156,371,344 (GRCm39)	missense	probably benign	0.00
R5038:Epb41l1	UTSW	2	156,363,330 (GRCm39)	missense	probably benign	0.12
R5049:Epb41l1	UTSW	2	156,366,859 (GRCm39)	missense	possibly damaging	0.95
R5129:Epb41l1	UTSW	2	156,351,201 (GRCm39)	missense	possibly damaging	0.80
R5624:Epb41l1	UTSW	2	156,375,691 (GRCm39)	splice site	probably benign
R5780:Epb41l1	UTSW	2	156,338,445 (GRCm39)	missense	probably damaging	1.00
R5810:Epb41l1	UTSW	2	156,341,575 (GRCm39)	missense	probably damaging	1.00
R5952:Epb41l1	UTSW	2	156,366,903 (GRCm39)	missense	probably benign
R5952:Epb41l1	UTSW	2	156,345,708 (GRCm39)	missense	probably damaging	1.00
R5961:Epb41l1	UTSW	2	156,363,706 (GRCm39)	missense	probably benign	0.25
R6118:Epb41l1	UTSW	2	156,364,397 (GRCm39)	missense	probably benign	0.13
R6496:Epb41l1	UTSW	2	156,375,716 (GRCm39)	missense	possibly damaging	0.92
R6959:Epb41l1	UTSW	2	156,341,507 (GRCm39)	missense	probably benign	0.03
R7009:Epb41l1	UTSW	2	156,376,603 (GRCm39)	splice site	probably null
R7036:Epb41l1	UTSW	2	156,371,322 (GRCm39)	missense	probably benign
R7046:Epb41l1	UTSW	2	156,368,812 (GRCm39)	missense	possibly damaging	0.56
R7263:Epb41l1	UTSW	2	156,337,043 (GRCm39)	critical splice donor site	probably null
R7322:Epb41l1	UTSW	2	156,345,771 (GRCm39)	missense	probably damaging	0.98
R7398:Epb41l1	UTSW	2	156,376,682 (GRCm39)	missense	probably damaging	1.00
R7914:Epb41l1	UTSW	2	156,364,128 (GRCm39)	missense	probably benign	0.03
R8039:Epb41l1	UTSW	2	156,348,332 (GRCm39)	missense	probably damaging	0.99
R8357:Epb41l1	UTSW	2	156,367,171 (GRCm39)	missense	probably benign	0.16
R8415:Epb41l1	UTSW	2	156,368,873 (GRCm39)	missense	probably benign	0.00
R8457:Epb41l1	UTSW	2	156,367,171 (GRCm39)	missense	probably benign	0.16
R8458:Epb41l1	UTSW	2	156,363,684 (GRCm39)	missense	probably benign	0.00
R8475:Epb41l1	UTSW	2	156,364,150 (GRCm39)	missense	probably damaging	0.98
R8790:Epb41l1	UTSW	2	156,345,722 (GRCm39)	missense	possibly damaging	0.62
R8851:Epb41l1	UTSW	2	156,364,431 (GRCm39)	missense	probably benign	0.03
R8898:Epb41l1	UTSW	2	156,335,869 (GRCm39)	missense	probably damaging	0.97
R8955:Epb41l1	UTSW	2	156,363,923 (GRCm39)	missense	probably benign	0.01
R8988:Epb41l1	UTSW	2	156,363,591 (GRCm39)	missense	probably benign	0.25
R9060:Epb41l1	UTSW	2	156,345,679 (GRCm39)	nonsense	probably null
R9121:Epb41l1	UTSW	2	156,364,487 (GRCm39)	missense	probably benign
R9602:Epb41l1	UTSW	2	156,367,068 (GRCm39)	missense	probably damaging	0.99
R9644:Epb41l1	UTSW	2	156,367,165 (GRCm39)	missense	possibly damaging	0.51
R9690:Epb41l1	UTSW	2	156,356,038 (GRCm39)	missense	probably damaging	0.99
X0065:Epb41l1	UTSW	2	156,351,197 (GRCm39)	missense	probably damaging	1.00
Z1177:Epb41l1	UTSW	2	156,350,747 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGCATTACGGTCAGCTCCAC -3'
(R):5'- GTTGCAGAACCATGCTGTTC -3'

Sequencing Primer
(F):5'- TCAGCTCCACGTCCAGC -3'
(R):5'- AACCATGCTGTTCTACGAGG -3'

Posted On

2018-09-12