Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Epb41l1'

568199

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156420909-156543214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 156503851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 258 (H258L)

Ref Sequence

ENSEMBL: ENSMUSP00000121161 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029155
AA Change: H258L

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

SMART Domains

Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: H258L

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 damaging
Transcript: ENSMUST00000103136
AA Change: H258L

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

SMART Domains

Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: H258L

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 damaging
Transcript: ENSMUST00000103137
AA Change: H258L

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

SMART Domains

Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: H258L

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 damaging
Transcript: ENSMUST00000109574
AA Change: H258L

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

SMART Domains

Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: H258L

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 damaging
Transcript: ENSMUST00000109577
AA Change: H258L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: H258L

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 damaging
Transcript: ENSMUST00000125153
AA Change: H258L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: H258L

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

probably benign
Transcript: ENSMUST00000144013

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151	V1352D	probably damaging	Het
Adam33	C	T	2: 131,053,694	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,087,462	G422C	probably benign	Het
Ang	T	A	14: 51,101,411	I3K	unknown	Het
Ankrd10	A	T	8: 11,615,841	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,877,797	I806V	probably benign	Het
Atp10b	T	C	11: 43,212,547	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,604,304	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,682,688	R117*	probably null	Het
Brwd1	A	T	16: 96,066,119	M172K	probably damaging	Het
Bsn	G	A	9: 108,126,421	R262*	probably null	Het
Bst2	A	C	8: 71,537,207	L74R	probably damaging	Het
C1qa	T	C	4: 136,896,154	*246W	probably null	Het
Cadm2	G	A	16: 66,882,846	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,259,966	T34A	probably benign	Het
Ccdc178	G	A	18: 22,105,549	T337M	probably benign	Het
Ccl8	T	C	11: 82,116,582	V81A	probably damaging	Het
Dgcr6	A	G	16: 18,070,907	T69A	unknown	Het
Dnah10	A	G	5: 124,821,269	D3762G	probably benign	Het
Eif3d	T	C	15: 77,961,676	T382A	probably benign	Het
Epb41	A	T	4: 131,989,719	Y375N	probably damaging	Het
Fbn1	A	C	2: 125,479,195	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,735,328	S425P	probably damaging	Het
Gfra2	T	A	14: 70,968,391	V398D	probably benign	Het
Gm3755	A	G	14: 7,448,178	L130P		Het
Grin3b	A	G	10: 79,975,695	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,459,081	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,684,011	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,920,667	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,533,791	D458G	possibly damaging	Het
Klb	A	T	5: 65,383,364	E933D	probably benign	Het
Lrp1	A	T	10: 127,545,564	M3855K	probably benign	Het
Map3k4	A	T	17: 12,270,946	L533I	probably damaging	Het
Mrps6	C	A	16: 92,058,447	Y4*	probably null	Het
Nabp1	A	T	1: 51,473,070	V105E	probably damaging	Het
Naip6	T	A	13: 100,299,388	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,308,645	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238	E590D	probably benign	Het
Olfr1054	C	T	2: 86,332,564	S264N	probably benign	Het
Olfr1106	A	T	2: 87,048,479	Y252*	probably null	Het
Olfr1564	A	G	17: 33,215,699	I215T	probably damaging	Het
Olfr362	T	C	2: 37,105,591	R20G	probably null	Het
Olfr597	T	A	7: 103,321,287	V292E		Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,162	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,157,690	S142P	probably benign	Het
Postn	T	C	3: 54,370,280	L232P	probably damaging	Het
Prss8	T	C	7: 127,929,563	T33A	probably benign	Het
Rapgef2	A	T	3: 79,145,823	M1K	probably null	Het
Rasa3	T	C	8: 13,595,857	N161S	possibly damaging	Het
Riox1	G	A	12: 83,950,668		probably benign	Het
Rmdn2	A	T	17: 79,621,611	K97N	probably damaging	Het
Sgo1	A	G	17: 53,677,057	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,451,302	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,691,848	G21D	not run	Het
Spata31d1d	C	A	13: 59,726,976	R915L	probably benign	Het
Stk17b	A	T	1: 53,765,945	N152K	probably benign	Het
Syne2	T	A	12: 75,984,024	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 150,934,337	D155G	probably damaging	Het
Tnrc6a	T	A	7: 123,171,508	D840E	probably benign	Het
Tyk2	G	A	9: 21,110,204	S902L	probably benign	Het
Unc119	T	C	11: 78,348,623	S235P	probably damaging	Het
Vav1	A	C	17: 57,302,266	D394A	probably benign	Het
Vezf1	T	A	11: 88,081,584	I439K	possibly damaging	Het
Zadh2	A	G	18: 84,095,135	Y312C	probably damaging	Het
Zfp335	A	T	2: 164,910,821	M1K	probably null	Het
Zfp715	T	C	7: 43,311,138	T10A	possibly damaging	Het
Zmynd11	C	T	13: 9,690,409	E382K	possibly damaging	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
R4610:Epb41l1	UTSW	2	156509261	missense	possibly damaging	0.71
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
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'- AGACATTATCACAGGCCGCC -3'
(R):5'- AGCCACCATTGTCATATCTCCG -3'

Sequencing Primer
(F):5'- CTGCCTTGCTCCTTTGTCACG -3'
(R):5'- CCATTGTCATATCTCCGAGTAACAG -3'

Posted On

2019-06-26