Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Epb41l1'

234346

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

040155-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156420909-156543214 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156514128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 528 (D528G)

Ref Sequence

ENSEMBL: ENSMUSP00000121161 (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 damaging
Transcript: ENSMUST00000029155
AA Change: D529G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029155
Gene: ENSMUSG00000027624
AA Change: D529G

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: ENSMUST00000103135
AA Change: D529G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099424
Gene: ENSMUSG00000027624
AA Change: D529G

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: ENSMUST00000103136
AA Change: D529G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099425
Gene: ENSMUSG00000027624
AA Change: D529G

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: D529G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099426
Gene: ENSMUSG00000027624
AA Change: D529G

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: D444G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105200
Gene: ENSMUSG00000027624
AA Change: D444G

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

probably damaging
Transcript: ENSMUST00000109574
AA Change: D516G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105202
Gene: ENSMUSG00000027624
AA Change: D516G

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: D517G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105205
Gene: ENSMUSG00000027624
AA Change: D517G

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: D528G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: D528G

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: D203G

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,934	D298V	probably damaging	Het
Ackr3	A	T	1: 90,213,843	Y8F	probably benign	Het
Acy1	T	C	9: 106,435,617	E175G	probably damaging	Het
Add2	T	C	6: 86,098,598	L243P	probably damaging	Het
Adsl	A	G	15: 80,967,662	D407G	probably damaging	Het
Afg3l1	T	G	8: 123,494,836	I478S	probably damaging	Het
Arfrp1	T	C	2: 181,359,694	T108A	probably benign	Het
Art5	A	G	7: 102,098,200	L124P	possibly damaging	Het
Asap2	A	T	12: 21,112,083	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102	N901S	probably benign	Het
Bbs12	G	T	3: 37,321,160	E586*	probably null	Het
Bicd2	G	T	13: 49,379,576	C546F	probably damaging	Het
Bid	A	T	6: 120,900,254	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,260,135	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615	T424K	probably benign	Het
Cd46	A	G	1: 195,062,413	I339T	probably benign	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cntn3	A	G	6: 102,206,537	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,409,625	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,792,706		probably null	Het
Dclk1	A	G	3: 55,247,212	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,891,487		probably null	Het
Dhx38	T	C	8: 109,560,674	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dnah3	C	T	7: 119,952,013	V3028I	probably benign	Het
Dnah6	T	C	6: 73,049,166	Y3448C	probably benign	Het
Dok5	G	A	2: 170,800,896	G38D	probably damaging	Het
Doxl2	T	A	6: 48,976,539	I466N	probably damaging	Het
Fat4	A	T	3: 38,983,395	Y3732F	probably damaging	Het
Fgfr4	A	T	13: 55,166,964	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,268,614	D328V	probably benign	Het
Foxp1	A	G	6: 99,016,541	L134P	probably damaging	Het
Frem2	G	A	3: 53,517,029	R2996*	probably null	Het
Fuk	T	A	8: 110,889,072	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gcn1l1	T	A	5: 115,609,829	I1765N	probably benign	Het
Gm4787	T	A	12: 81,377,219	I722F	probably benign	Het
Gpc6	G	T	14: 116,926,092	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,740,027		probably null	Het
H2-Q2	T	C	17: 35,345,276		probably null	Het
Hapln2	C	A	3: 88,023,613	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607	E210*	probably null	Het
Hpse	T	A	5: 100,691,403	K360*	probably null	Het
Iqcj	A	T	3: 68,055,310	E68V	probably damaging	Het
Kat2a	T	C	11: 100,712,346		probably benign	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440	I371F	probably damaging	Het
Klhl30	C	A	1: 91,357,824	A356D	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Mgea5	A	T	19: 45,758,022	Y779*	probably null	Het
Micu1	G	T	10: 59,863,288	M468I	probably benign	Het
Mrc1	A	G	2: 14,327,864	T1292A	probably damaging	Het
Myh8	G	A	11: 67,294,469	E849K	probably damaging	Het
Myom3	G	T	4: 135,803,233	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,210,330	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339		noncoding transcript	Het
Olfr1339	C	T	4: 118,735,249	A240V	possibly damaging	Het
Olfr1413	T	C	1: 92,573,908	S246P	probably damaging	Het
Olfr24	T	C	9: 18,755,095	D180G	probably damaging	Het
Olfr33	G	T	7: 102,713,581	H277Q	probably benign	Het
Olfr435	A	G	6: 43,202,069	I142V	probably benign	Het
Olfr592	A	T	7: 103,186,640	D13V	probably benign	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Olfr969	A	T	9: 39,795,647	I91F	probably benign	Het
Otop1	T	A	5: 38,302,851	M587K	probably damaging	Het
Pgm5	T	A	19: 24,834,815	I118F	probably damaging	Het
Phc2	A	G	4: 128,745,066	*41W	probably null	Het
Piezo2	A	T	18: 63,114,041	M532K	probably damaging	Het
Pjvk	A	T	2: 76,658,369	I295F	probably benign	Het
Popdc2	A	G	16: 38,363,120	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,042,567	N684K	probably damaging	Het
Prpf4b	T	A	13: 34,900,419	M930K	probably benign	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,671	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,784,550	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985	H636R	probably benign	Het
Rb1	T	C	14: 73,288,725	T169A	probably benign	Het
Rcc2	T	C	4: 140,717,117	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rrbp1	A	G	2: 143,954,198	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,792,944	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,944,130	R398H	probably damaging	Het
Selenoo	A	G	15: 89,099,282	M509V	probably benign	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,125,638	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,803,949	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,893,223	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Snx29	A	G	16: 11,400,843	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,033,965		probably null	Het
Stat5a	C	A	11: 100,874,090	T213N	probably benign	Het
Stt3a	A	T	9: 36,747,996	V349D	probably damaging	Het
Tcf20	A	T	15: 82,855,602	D549E	probably damaging	Het
Thbs2	T	A	17: 14,673,209	D903V	probably damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tmc1	A	T	19: 20,856,675	N241K	probably benign	Het
Tmem260	G	T	14: 48,477,609	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 52,043,730	E32D	probably damaging	Het
Trpa1	A	T	1: 14,899,401	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,547,975	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,705,552	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,930,189	R426L	probably damaging	Het
Ttn	A	C	2: 76,740,138	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,857,728	V792A	probably benign	Het
Zfp345	T	C	2: 150,472,658	T320A	probably benign	Het
Zfp407	T	C	18: 84,209,649	D1945G	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
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
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'- GTGATCCCAGTCTTCCTGTG -3'
(R):5'- TGGGTTTGACTTTCTCAGCC -3'

Sequencing Primer
(F):5'- GTGTCTTCTGCCCACAGTAGG -3'
(R):5'- CCTCATGTCTGTAAGCAACTAGGAG -3'

Posted On

2014-10-01