Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Epb41l2'

158376

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

039367-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R1301 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

25359798-25523519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25443902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 211 (V211D)

Ref Sequence

ENSEMBL: ENSMUSP00000151875 (fasta)

Gene Model

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

AlphaFold

O70318

Predicted Effect

probably damaging
Transcript: ENSMUST00000053748
AA Change: V211D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: V211D

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 damaging
Transcript: ENSMUST00000092645
AA Change: V211D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: V211D

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 damaging
Transcript: ENSMUST00000217929
AA Change: V211D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218903
AA Change: V211D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000219166

Predicted Effect

probably benign
Transcript: ENSMUST00000219224

Predicted Effect

probably damaging
Transcript: ENSMUST00000219805
AA Change: V211D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219900
AA Change: V211D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220121

Meta Mutation Damage Score

0.3813

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	G	7: 144,633,689	W447R	possibly damaging	Het
Blm	T	A	7: 80,455,417	K103*	probably null	Het
Camta2	A	G	11: 70,676,404	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648		probably benign	Het
Corin	C	A	5: 72,304,933	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,102,586	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,208,545		probably null	Het
Emilin2	T	C	17: 71,255,965		probably benign	Het
Fbxo47	C	T	11: 97,868,601	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059		probably null	Het
Hmgcr	G	A	13: 96,659,020	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,961,205		probably benign	Het
Klhl7	T	G	5: 24,159,491	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658		probably benign	Het
Mroh7	T	C	4: 106,720,495	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983		probably null	Het
Mta2	A	G	19: 8,949,186		probably benign	Het
Myo3a	A	T	2: 22,267,095		probably benign	Het
Nrip2	A	G	6: 128,407,389	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417		probably benign	Het
Nup210	C	T	6: 91,042,347	V259M	possibly damaging	Het
Olfr1338	C	T	4: 118,753,619	M308I	probably benign	Het
Olfr1466	A	T	19: 13,341,847	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831		probably null	Het
Plpp1	A	G	13: 112,834,943	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960	R47*	probably null	Het
Sis	T	C	3: 72,946,582	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881	V325A	probably benign	Het
Speg	T	A	1: 75,401,501	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115	F309I	probably damaging	Het
Tmem206	T	C	1: 191,348,435	V284A	probably damaging	Het
Tmem67	T	C	4: 12,089,400		probably benign	Het
Trpm1	T	A	7: 64,203,053		probably null	Het
Wrn	T	C	8: 33,292,686	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100	S260T	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
R1560:Epb41l2	UTSW	10	25495436	splice site	probably null
R1752:Epb41l2	UTSW	10	25460792	missense	probably damaging	1.00
R1813:Epb41l2	UTSW	10	25441568	splice site	probably null
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'- CCAGTCTGCTTAGAAAAGTGGGGTC -3'
(R):5'- AGGCATTTTCTCGCCAAACGAAAC -3'

Sequencing Primer
(F):5'- AAAAGTGGGGTCTGATCTTTTTTTC -3'
(R):5'- GGTATCAAAGCAGATCTTTCAGACC -3'

Posted On

2014-02-18