Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Epb41l2'

265966

Institutional Source

Beutler Lab

Gene Symbol

Epb41l2

Ensembl Gene

ENSMUSG00000019978

Gene Name

erythrocyte membrane protein band 4.1 like 2

Synonyms

NBL2, 4.1G, Epb4.1l2, D10Ertd398e

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R1813 (G1)

Quality Score

175

Status

Validated

Chromosome

Chromosomal Location

25359798-25523519 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 25441568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053748] [ENSMUST00000053748] [ENSMUST00000092645] [ENSMUST00000092645] [ENSMUST00000092645] [ENSMUST00000092645] [ENSMUST00000217929] [ENSMUST00000217929] [ENSMUST00000218903] [ENSMUST00000218903] [ENSMUST00000219166] [ENSMUST00000219166] [ENSMUST00000219224] [ENSMUST00000219224] [ENSMUST00000219805] [ENSMUST00000219805] [ENSMUST00000219900] [ENSMUST00000219900] [ENSMUST00000219967] [ENSMUST00000219967]

AlphaFold

O70318

Predicted Effect

probably null
Transcript: ENSMUST00000053748

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	1.8e-23	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	875	981	1.1e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000053748

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	1.8e-23	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	875	981	1.1e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092645

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	6.1e-27	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	869	982	8.2e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092645

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	6.1e-27	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	869	982	8.2e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092645

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	6.1e-27	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	869	982	8.2e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092645

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978

Domain	Start	End	E-Value	Type
B41	207	402	3.22e-76	SMART
FERM_C	406	496	2.15e-39	SMART
FA	499	545	1.93e-18	SMART
low complexity region	555	567	N/A	INTRINSIC
Pfam:SAB	613	661	6.1e-27	PFAM
low complexity region	717	733	N/A	INTRINSIC
low complexity region	751	763	N/A	INTRINSIC
Pfam:4_1_CTD	869	982	8.2e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000217929

Predicted Effect

probably null
Transcript: ENSMUST00000217929

Predicted Effect

probably null
Transcript: ENSMUST00000218903

Predicted Effect

probably null
Transcript: ENSMUST00000218903

Predicted Effect

probably null
Transcript: ENSMUST00000219166

Predicted Effect

probably null
Transcript: ENSMUST00000219166

Predicted Effect

probably null
Transcript: ENSMUST00000219224

Predicted Effect

probably null
Transcript: ENSMUST00000219224

Predicted Effect

probably null
Transcript: ENSMUST00000219805

Predicted Effect

probably null
Transcript: ENSMUST00000219805

Predicted Effect

probably null
Transcript: ENSMUST00000219900

Predicted Effect

probably null
Transcript: ENSMUST00000219900

Predicted Effect

probably null
Transcript: ENSMUST00000219967

Predicted Effect

probably null
Transcript: ENSMUST00000219967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220121

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glutamatergic synapse formation, AMPAR responses and long-term potentiation. Male mice homozygous for a knock-out allele exhibit normal fertility. Male mice homozygous for a gene trap allele on a mixed background are infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly damaging	Het

Other mutations in Epb41l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Epb41l2	APN	10	25501836	missense	probably damaging	1.00
IGL00826:Epb41l2	APN	10	25441722	missense	probably benign	0.07
IGL01312:Epb41l2	APN	10	25441587	start codon destroyed	probably null	1.00
IGL02123:Epb41l2	APN	10	25460844	missense	probably damaging	1.00
IGL02448:Epb41l2	APN	10	25493595	missense	possibly damaging	0.66
R0365:Epb41l2	UTSW	10	25469221	missense	probably damaging	1.00
R0594:Epb41l2	UTSW	10	25443770	missense	possibly damaging	0.53
R0826:Epb41l2	UTSW	10	25504192	missense	probably damaging	1.00
R0837:Epb41l2	UTSW	10	25507816	missense	probably damaging	1.00
R1243:Epb41l2	UTSW	10	25489043	missense	possibly damaging	0.81
R1301:Epb41l2	UTSW	10	25443902	missense	probably damaging	1.00
R1560:Epb41l2	UTSW	10	25495436	splice site	probably null
R1752:Epb41l2	UTSW	10	25460792	missense	probably damaging	1.00
R1966:Epb41l2	UTSW	10	25441768	missense	probably benign	0.01
R2276:Epb41l2	UTSW	10	25488944	unclassified	probably benign
R4425:Epb41l2	UTSW	10	25506180	missense	possibly damaging	0.81
R4445:Epb41l2	UTSW	10	25443803	missense	possibly damaging	0.92
R4621:Epb41l2	UTSW	10	25502140	critical splice donor site	probably null
R4720:Epb41l2	UTSW	10	25471626	missense	probably damaging	1.00
R5026:Epb41l2	UTSW	10	25484308	missense	possibly damaging	0.94
R5408:Epb41l2	UTSW	10	25468094	critical splice acceptor site	probably null
R5703:Epb41l2	UTSW	10	25441767	missense	probably damaging	1.00
R5896:Epb41l2	UTSW	10	25493596	missense	probably damaging	0.96
R5974:Epb41l2	UTSW	10	25441815	missense	possibly damaging	0.79
R6073:Epb41l2	UTSW	10	25501832	missense	probably damaging	1.00
R6182:Epb41l2	UTSW	10	25507817	missense	probably damaging	1.00
R6229:Epb41l2	UTSW	10	25499836	missense	possibly damaging	0.73
R6276:Epb41l2	UTSW	10	25502124	missense	probably damaging	0.98
R6321:Epb41l2	UTSW	10	25468128	missense	probably damaging	0.98
R6737:Epb41l2	UTSW	10	25489018	splice site	probably null
R6766:Epb41l2	UTSW	10	25473092	nonsense	probably null
R6834:Epb41l2	UTSW	10	25493604	missense	possibly damaging	0.92
R7023:Epb41l2	UTSW	10	25512977	missense	probably damaging	1.00
R7258:Epb41l2	UTSW	10	25484287	missense	probably damaging	1.00
R7688:Epb41l2	UTSW	10	25479138	missense	probably damaging	0.97
R7769:Epb41l2	UTSW	10	25493573	missense	probably benign
R7796:Epb41l2	UTSW	10	25443829	missense	probably benign	0.15
R8365:Epb41l2	UTSW	10	25441686	missense	probably benign	0.21
R8490:Epb41l2	UTSW	10	25504230	missense	probably damaging	1.00
R8676:Epb41l2	UTSW	10	25443776	missense	probably benign	0.03
R8744:Epb41l2	UTSW	10	25441827	missense	probably damaging	1.00
R9288:Epb41l2	UTSW	10	25479755	missense	possibly damaging	0.85
R9650:Epb41l2	UTSW	10	25493597	missense	probably benign	0.28
R9665:Epb41l2	UTSW	10	25441900	missense	probably benign
R9707:Epb41l2	UTSW	10	25502337	missense	probably damaging	1.00
Z1176:Epb41l2	UTSW	10	25441720	missense	probably benign	0.03
Z1176:Epb41l2	UTSW	10	25499902	nonsense	probably null
Z1177:Epb41l2	UTSW	10	25479741	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGTTCTGAGAGTTCTAATAGAGC -3'
(R):5'- GTTCTCAGACGGATCCTTCC -3'

Sequencing Primer
(F):5'- TCTGAGAGTTCTAATAGAGCAAGTG -3'
(R):5'- GGGAGTGCTTTGCCTCTCAAC -3'

Posted On

2015-02-05