Mutagenetix > Incidental Mutations

Incidental Mutation 'R6321:Epb41l2'

510354

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.394) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25359798-25523519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25468128 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 274 (R274S)

Ref Sequence

ENSEMBL: ENSMUSP00000151875 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053748
AA Change: R274S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: R274S

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

possibly damaging
Transcript: ENSMUST00000092645
AA Change: R274S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: R274S

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: R274S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218903
AA Change: R274S

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219138

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219805
AA Change: R274S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219900
AA Change: R274S

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220121

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,257,006		probably null	Het
Actbl2	G	T	13: 111,255,381	M83I	probably damaging	Het
Adgra2	T	A	8: 27,114,162	M460K	probably benign	Het
Aldh16a1	G	A	7: 45,149,765	A31V	probably damaging	Het
Ank2	T	C	3: 126,946,938		probably benign	Het
Arrdc4	C	A	7: 68,749,045	D8Y	probably benign	Het
Auts2	A	G	5: 131,466,115	Y110H	probably damaging	Het
Blnk	A	T	19: 40,934,459	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,769	F84L	probably damaging	Het
Cenpl	T	C	1: 161,074,895	S46P	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Chrnd	C	T	1: 87,192,229	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,291,520	M37K	probably benign	Het
Dnah11	T	C	12: 118,142,292	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,411	V2936G	probably damaging	Het
Dock9	A	G	14: 121,546,021	M2055T	probably damaging	Het
Erich3	A	T	3: 154,727,502	H371L	probably damaging	Het
Evi5l	C	A	8: 4,203,080	P454T	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Golgb1	T	A	16: 36,918,197	C2299*	probably null	Het
Heca	G	C	10: 17,915,243		probably null	Het
Hecw1	C	T	13: 14,522,829	A9T	probably benign	Het
Hs3st6	T	A	17: 24,758,568	W341R	probably damaging	Het
Kidins220	C	T	12: 25,057,534	S1571L	probably benign	Het
Klk9	A	G	7: 43,794,308	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,745,657	H180Q	probably benign	Het
Mecom	A	G	3: 29,980,592	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,949,372	V372A	probably benign	Het
Mrgprd	A	G	7: 145,322,142	D250G	probably benign	Het
Muc2	A	G	7: 141,700,828	D191G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	C	A	13: 100,300,401	S538I	probably benign	Het
Olfr1312	A	G	2: 112,042,768	V88A	probably benign	Het
Olfr692	A	G	7: 105,368,902	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,544,015	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151	E789G	probably damaging	Het
Prkdc	A	G	16: 15,714,919	T1471A	probably benign	Het
Scarb1	T	A	5: 125,304,331	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,789,164	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814	D601E	probably benign	Het
Snx6	C	A	12: 54,752,013	V221F	probably damaging	Het
Spag17	A	C	3: 100,088,427	K1794T	probably benign	Het
Tpo	A	G	12: 30,103,108	W416R	probably damaging	Het
Ttc13	C	A	8: 124,683,191	K427N	probably damaging	Het
Upf3a	A	T	8: 13,787,466	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,849,046	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,463,383	G171S	probably benign	Het
Zfp451	A	G	1: 33,813,735	F33L	probably damaging	Het
Zfp454	A	G	11: 50,873,049	F408L	probably damaging	Het
Zfp639	T	C	3: 32,517,088	Y40H	probably 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
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
R6737:Epb41l2	UTSW	10	25489018	unclassified	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
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'- CACTCAGGAGAATGCTAACAAGTG -3'
(R):5'- TTGCCTCCTCAAAGGGAAGG -3'

Sequencing Primer
(F):5'- TCAGGAGAATGCTAACAAGTGAAAGC -3'
(R):5'- TGTTAGGACTGCAAGCTCCTGAC -3'

Posted On

2018-04-02