Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Epb41l1'

367385

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

042410-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156262829-156385134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 156371344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 727 (M727K)

Ref Sequence

ENSEMBL: ENSMUSP00000105205 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029155
AA Change: M739K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: M739K

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: M739K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: M739K

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: M739K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: M739K

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: M739K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: M739K

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
AA Change: M590K

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

SMART Domains

Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: M590K

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: M727K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: M727K

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

noncoding transcript
Transcript: ENSMUST00000137067

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	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
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
R6861:Epb41l1	UTSW	2	156,367,142 (GRCm39)	missense	probably benign
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'- TGCAGTACAGTGTGAGCAC -3'
(R):5'- GCTGAAGCAGTTTCCAGGTTC -3'

Sequencing Primer
(F):5'- TACAGTGTGAGCACCCCCAG -3'
(R):5'- TCTGGGTACTGGGAGGAGAG -3'

Posted On

2015-12-29