Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Epb41l1'

684194

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

068820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156262829-156385134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 156363591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 700 (T700K)

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 benign
Transcript: ENSMUST00000029155

SMART Domains

Protein: ENSMUSP00000029155
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	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

SMART Domains

Protein: ENSMUSP00000099425
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	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

SMART Domains

Protein: ENSMUSP00000099426
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	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

SMART Domains

Protein: ENSMUSP00000105205
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	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: T700K

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121161
Gene: ENSMUSG00000027624
AA Change: T700K

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: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	C	T	1: 60,489,251 (GRCm39)	T291I	probably benign	Het
Aox1	A	C	1: 58,088,625 (GRCm39)	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,609,444 (GRCm39)	K68E	probably damaging	Het
Arf3	A	T	15: 98,638,933 (GRCm39)	M108K	probably benign	Het
Atg2b	T	A	12: 105,583,388 (GRCm39)	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,639,518 (GRCm39)	L99F	probably damaging	Het
Cd200l1	T	C	16: 45,238,271 (GRCm39)	H294R	probably benign	Het
Cyp2b10	G	A	7: 25,625,670 (GRCm39)	R500H	probably damaging	Het
Dlc1	C	T	8: 37,039,997 (GRCm39)	E937K	probably damaging	Het
Dll3	A	T	7: 27,995,793 (GRCm39)	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727 (GRCm39)	F3377L	probably benign	Het
Eef1d	A	G	15: 75,768,160 (GRCm39)	Y561H	probably damaging	Het
Efcab3	T	G	11: 104,911,352 (GRCm39)	V4544G	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ephb2	C	A	4: 136,402,769 (GRCm39)	G501C	probably benign	Het
Erbb3	T	C	10: 128,406,030 (GRCm39)	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,212,726 (GRCm39)	V799M	possibly damaging	Het
Fbxo9	G	A	9: 77,991,933 (GRCm39)	P353S	probably benign	Het
Ggt1	T	G	10: 75,412,056 (GRCm39)	V100G	probably benign	Het
Gm45861	T	C	8: 28,032,531 (GRCm39)	M885T	unknown	Het
Grin2d	A	T	7: 45,483,425 (GRCm39)	Y917*	probably null	Het
Hectd4	T	A	5: 121,415,819 (GRCm39)	V540D	possibly damaging	Het
Helz	T	A	11: 107,495,079 (GRCm39)	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,759,980 (GRCm39)	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,106 (GRCm39)	I70N	probably damaging	Het
Il18	A	T	9: 50,489,178 (GRCm39)	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,552,209 (GRCm39)	E927D		Het
Kcnt2	T	A	1: 140,356,587 (GRCm39)	V342E	probably benign	Het
Khdc4	A	G	3: 88,607,286 (GRCm39)	N330S	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt18	C	G	15: 101,937,962 (GRCm39)	A153G	probably damaging	Het
Lmntd2	A	T	7: 140,791,977 (GRCm39)		probably benign	Het
Lrrc26	G	T	2: 25,180,286 (GRCm39)	A96S	probably benign	Het
Map3k11	A	T	19: 5,752,166 (GRCm39)	S783C	probably damaging	Het
Mib2	G	A	4: 155,740,729 (GRCm39)	L632F	possibly damaging	Het
Mical2	A	C	7: 111,910,661 (GRCm39)	D277A	possibly damaging	Het
Mtr	A	T	13: 12,250,365 (GRCm39)	F339L	probably benign	Het
Musk	T	C	4: 58,354,032 (GRCm39)	F362L	probably benign	Het
Ncor1	G	A	11: 62,233,871 (GRCm39)	Q444*	probably null	Het
Nek4	T	C	14: 30,685,924 (GRCm39)	S279P		Het
Nell1	C	T	7: 50,210,543 (GRCm39)	T348I	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,088,902 (GRCm39)	H885R	probably damaging	Het
Or13a19	G	A	7: 139,902,938 (GRCm39)	G109R	possibly damaging	Het
Or2a5	T	A	6: 42,874,201 (GRCm39)	V272D		Het
Or2y12	C	A	11: 49,426,028 (GRCm39)	N5K	probably damaging	Het
Or6c208	T	C	10: 129,224,240 (GRCm39)	V246A	probably damaging	Het
Or6c69c	T	A	10: 129,910,522 (GRCm39)	V81D	possibly damaging	Het
Or6d14	A	G	6: 116,534,255 (GRCm39)	T290A	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
P3h3	C	A	6: 124,834,564 (GRCm39)	Q29H	possibly damaging	Het
Parn	A	G	16: 13,466,281 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,407 (GRCm39)	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigb	A	G	9: 72,929,576 (GRCm39)	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,700,538 (GRCm39)	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,567,401 (GRCm39)	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,435,620 (GRCm39)	K50E	possibly damaging	Het
Psg21	A	G	7: 18,386,389 (GRCm39)	V199A	probably benign	Het
Reep3	T	C	10: 66,871,786 (GRCm39)		probably null	Het
Reln	T	C	5: 22,104,155 (GRCm39)	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,808,667 (GRCm39)	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,280,771 (GRCm39)	E911G	probably damaging	Het
Serpinb6b	C	A	13: 33,162,125 (GRCm39)	A308E	probably benign	Het
Slc26a4	A	G	12: 31,572,523 (GRCm39)	V746A	probably benign	Het
Slc4a3	T	G	1: 75,527,957 (GRCm39)	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,078,900 (GRCm39)	T186S	possibly damaging	Het
Slk	A	G	19: 47,608,712 (GRCm39)	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100 (GRCm39)	D925E	probably benign	Het
Stat5a	A	T	11: 100,774,764 (GRCm39)	T758S	unknown	Het
Sulf1	A	G	1: 12,906,499 (GRCm39)	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,536,853 (GRCm39)	N4I	probably damaging	Het
Tex2	A	T	11: 106,402,731 (GRCm39)	I1047K	unknown	Het
Tmem184b	A	G	15: 79,261,264 (GRCm39)	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,467,027 (GRCm39)	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,268,433 (GRCm39)	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,549,599 (GRCm39)	N264K	possibly damaging	Het
Uba2	A	C	7: 33,853,987 (GRCm39)	S318R	probably benign	Het
Wapl	T	A	14: 34,451,139 (GRCm39)	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,493,671 (GRCm39)	I5F	probably damaging	Het
Zan	C	T	5: 137,406,563 (GRCm39)	D3686N	unknown	Het
Zfp618	A	T	4: 63,012,708 (GRCm39)	Y140F	probably benign	Het
Zfp790	A	G	7: 29,527,593 (GRCm39)	T93A	probably benign	Het
Zfp979	A	C	4: 147,697,984 (GRCm39)	F242V	probably benign	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
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
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'- CAAGTACTCAGCAGCAAGGG -3'
(R):5'- AAGGGAGTCCTCAGAGTCTTTC -3'

Sequencing Primer
(F):5'- TTGCAAGTCCAGAAGGCTC -3'
(R):5'- CTTTCCGTAGTTCAGACAGAAGC -3'

Posted On

2021-10-11