Mutagenetix > Incidental Mutation

Incidental Mutation 'R5026:Epb41l2'

391367

Institutional Source

Beutler Lab

Gene Symbol

Epb41l2

Ensembl Gene

ENSMUSG00000019978

Gene Name

erythrocyte membrane protein band 4.1 like 2

Synonyms

Epb4.1l2, 4.1G, D10Ertd398e, NBL2

MMRRC Submission

042617-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R5026 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25235696-25399417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25360206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 523 (T523A)

Ref Sequence

ENSEMBL: ENSMUSP00000151685 (fasta)

Gene Model

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

AlphaFold

O70318

Predicted Effect

probably benign
Transcript: ENSMUST00000053748
AA Change: T523A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: T523A

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 benign
Transcript: ENSMUST00000092645
AA Change: T523A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: T523A

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 benign
Transcript: ENSMUST00000217929
AA Change: T523A

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218903
AA Change: T523A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219390

Predicted Effect

probably benign
Transcript: ENSMUST00000219805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220121

Predicted Effect

probably benign
Transcript: ENSMUST00000219900

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.7%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,356,383 (GRCm39)	N608S	probably benign	Het
Actg1	T	C	11: 120,237,784 (GRCm39)	N7S	probably damaging	Het
Adamtsl3	T	A	7: 82,225,262 (GRCm39)	L357Q	probably benign	Het
Ahnak	A	T	19: 8,987,995 (GRCm39)	Q3093L	possibly damaging	Het
Ankrd16	T	A	2: 11,794,692 (GRCm39)	V359E	probably benign	Het
Ankrd40	T	C	11: 94,230,550 (GRCm39)		probably benign	Het
Ano10	G	A	9: 122,101,625 (GRCm39)	Q49*	probably null	Het
Aoah	A	T	13: 21,099,129 (GRCm39)	D236V	probably damaging	Het
Bin1	T	C	18: 32,552,983 (GRCm39)		probably null	Het
Braf	T	C	6: 39,665,221 (GRCm39)	D49G	probably benign	Het
Brsk1	A	T	7: 4,707,265 (GRCm39)	R273W	probably damaging	Het
C2cd3	T	A	7: 100,109,049 (GRCm39)	M2259K	possibly damaging	Het
Cabp1	T	C	5: 115,313,531 (GRCm39)	N43D	possibly damaging	Het
Ccar2	T	A	14: 70,379,951 (GRCm39)	Q412L	possibly damaging	Het
Cd4	T	C	6: 124,843,583 (GRCm39)	T443A	possibly damaging	Het
Cdh23	T	A	10: 60,140,627 (GRCm39)	I3206F	possibly damaging	Het
Ceacam9	A	T	7: 16,459,122 (GRCm39)		probably null	Het
Chid1	T	C	7: 141,093,749 (GRCm39)	D289G	probably damaging	Het
Chmp6	T	A	11: 119,809,469 (GRCm39)	L196Q	probably damaging	Het
Cog8	A	G	8: 107,775,757 (GRCm39)	S536P	probably benign	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah7a	T	G	1: 53,701,657 (GRCm39)	Y166S	probably damaging	Het
Dnah7b	G	T	1: 46,226,523 (GRCm39)	W1318L	probably damaging	Het
Ecd	A	G	14: 20,387,098 (GRCm39)	F212S	probably damaging	Het
Entpd6	A	T	2: 150,605,564 (GRCm39)	S265C	probably damaging	Het
Focad	T	C	4: 88,262,819 (GRCm39)	S939P	unknown	Het
Gjb3	A	T	4: 127,220,280 (GRCm39)	V84D	probably damaging	Het
Gm572	A	T	4: 148,739,301 (GRCm39)	E43V	possibly damaging	Het
Gm6185	T	A	1: 161,052,178 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,201,522 (GRCm39)	C787S	probably damaging	Het
Grpel2	A	G	18: 61,849,024 (GRCm39)	L162P	probably damaging	Het
Herc1	A	G	9: 66,393,408 (GRCm39)	T4096A	probably benign	Het
Hook3	A	T	8: 26,600,785 (GRCm39)	M41K	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,293 (GRCm39)	Y388C	probably damaging	Het
Ighv3-4	A	G	12: 114,217,382 (GRCm39)	Y70H	probably benign	Het
Itm2c	T	C	1: 85,834,213 (GRCm39)	L176P	probably damaging	Het
Lmtk3	G	A	7: 45,443,836 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,333,287 (GRCm39)	T2376I	possibly damaging	Het
Map1a	T	G	2: 121,138,019 (GRCm39)	S2660A	possibly damaging	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Nbeal1	A	T	1: 60,276,338 (GRCm39)	K693M	probably damaging	Het
Ndufa13	T	A	8: 70,347,920 (GRCm39)	R49*	probably null	Het
Neb	T	A	2: 52,094,892 (GRCm39)	T1115S	possibly damaging	Het
Nvl	C	T	1: 180,932,720 (GRCm39)	R699H	probably damaging	Het
Or10w1	A	G	19: 13,632,296 (GRCm39)	I163V	probably benign	Het
Or5d47	A	T	2: 87,804,364 (GRCm39)	I215N	probably damaging	Het
Or8b53	A	G	9: 38,667,041 (GRCm39)	D19G	probably benign	Het
Or8d2b	A	T	9: 38,789,195 (GRCm39)	H241L	possibly damaging	Het
Piezo1	G	T	8: 123,213,557 (GRCm39)	D1779E	probably benign	Het
Prl8a9	A	G	13: 27,745,560 (GRCm39)	S77P	probably damaging	Het
Prune2	A	T	19: 17,176,506 (GRCm39)	I2904F	probably damaging	Het
Retreg1	T	A	15: 25,970,214 (GRCm39)	S151T	probably damaging	Het
Rnf213	A	G	11: 119,327,590 (GRCm39)	D1859G	probably damaging	Het
Rnf39	T	C	17: 37,256,426 (GRCm39)	F173L	probably benign	Het
Rspry1	T	A	8: 95,376,931 (GRCm39)	N371K	probably damaging	Het
Samd9l	T	A	6: 3,375,284 (GRCm39)	D659V	possibly damaging	Het
Sez6	T	A	11: 77,859,815 (GRCm39)	F378Y	probably damaging	Het
Slc22a19	G	A	19: 7,651,737 (GRCm39)	T490M	probably benign	Het
Slit2	A	T	5: 48,414,147 (GRCm39)	N917I	probably damaging	Het
Smg1	T	A	7: 117,792,768 (GRCm39)		probably benign	Het
Tes	T	C	6: 17,096,339 (GRCm39)	V24A	probably benign	Het
Tial1	C	T	7: 128,050,120 (GRCm39)	E82K	probably damaging	Het
Tmem94	G	A	11: 115,683,930 (GRCm39)	C750Y	probably damaging	Het
Tmppe	T	A	9: 114,234,887 (GRCm39)	N395K	possibly damaging	Het
Tnn	T	C	1: 159,973,707 (GRCm39)	H220R	probably benign	Het
Trappc10	T	C	10: 78,040,122 (GRCm39)	T610A	possibly damaging	Het
Trmt1l	T	A	1: 151,316,627 (GRCm39)	M196K	probably damaging	Het
Trpv4	T	C	5: 114,760,715 (GRCm39)	*872W	probably null	Het
Ttn	T	C	2: 76,579,353 (GRCm39)	T23847A	probably benign	Het
Ube4b	T	A	4: 149,445,022 (GRCm39)	L440F	probably damaging	Het
Ugt1a5	C	G	1: 88,093,963 (GRCm39)	R64G	probably benign	Het
Unc13c	T	A	9: 73,838,185 (GRCm39)	T889S	possibly damaging	Het
Vmn1r215	C	T	13: 23,260,449 (GRCm39)	T163I	probably benign	Het
Vmn2r16	T	A	5: 109,508,722 (GRCm39)	Y483*	probably null	Het
Wdr47	T	A	3: 108,525,838 (GRCm39)	C120*	probably null	Het
Zc3h6	G	A	2: 128,859,229 (GRCm39)	V1087I	probably benign	Het
Zfp423	T	C	8: 88,507,302 (GRCm39)	H889R	probably damaging	Het
Zfp825	G	T	13: 74,629,196 (GRCm39)	H107N	probably benign	Het
Zfp945	T	C	17: 23,069,859 (GRCm39)	H680R	probably damaging	Het

Other mutations in Epb41l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Epb41l2	APN	10	25,377,734 (GRCm39)	missense	probably damaging	1.00
IGL00826:Epb41l2	APN	10	25,317,620 (GRCm39)	missense	probably benign	0.07
IGL01312:Epb41l2	APN	10	25,317,485 (GRCm39)	start codon destroyed	probably null	1.00
IGL02123:Epb41l2	APN	10	25,336,742 (GRCm39)	missense	probably damaging	1.00
IGL02448:Epb41l2	APN	10	25,369,493 (GRCm39)	missense	possibly damaging	0.66
R0365:Epb41l2	UTSW	10	25,345,119 (GRCm39)	missense	probably damaging	1.00
R0594:Epb41l2	UTSW	10	25,319,668 (GRCm39)	missense	possibly damaging	0.53
R0826:Epb41l2	UTSW	10	25,380,090 (GRCm39)	missense	probably damaging	1.00
R0837:Epb41l2	UTSW	10	25,383,714 (GRCm39)	missense	probably damaging	1.00
R1243:Epb41l2	UTSW	10	25,364,941 (GRCm39)	missense	possibly damaging	0.81
R1301:Epb41l2	UTSW	10	25,319,800 (GRCm39)	missense	probably damaging	1.00
R1560:Epb41l2	UTSW	10	25,371,334 (GRCm39)	splice site	probably null
R1752:Epb41l2	UTSW	10	25,336,690 (GRCm39)	missense	probably damaging	1.00
R1813:Epb41l2	UTSW	10	25,317,466 (GRCm39)	splice site	probably null
R1966:Epb41l2	UTSW	10	25,317,666 (GRCm39)	missense	probably benign	0.01
R2276:Epb41l2	UTSW	10	25,364,842 (GRCm39)	unclassified	probably benign
R4425:Epb41l2	UTSW	10	25,382,078 (GRCm39)	missense	possibly damaging	0.81
R4445:Epb41l2	UTSW	10	25,319,701 (GRCm39)	missense	possibly damaging	0.92
R4621:Epb41l2	UTSW	10	25,378,038 (GRCm39)	critical splice donor site	probably null
R4720:Epb41l2	UTSW	10	25,347,524 (GRCm39)	missense	probably damaging	1.00
R5408:Epb41l2	UTSW	10	25,343,992 (GRCm39)	critical splice acceptor site	probably null
R5703:Epb41l2	UTSW	10	25,317,665 (GRCm39)	missense	probably damaging	1.00
R5896:Epb41l2	UTSW	10	25,369,494 (GRCm39)	missense	probably damaging	0.96
R5974:Epb41l2	UTSW	10	25,317,713 (GRCm39)	missense	possibly damaging	0.79
R6073:Epb41l2	UTSW	10	25,377,730 (GRCm39)	missense	probably damaging	1.00
R6182:Epb41l2	UTSW	10	25,383,715 (GRCm39)	missense	probably damaging	1.00
R6229:Epb41l2	UTSW	10	25,375,734 (GRCm39)	missense	possibly damaging	0.73
R6276:Epb41l2	UTSW	10	25,378,022 (GRCm39)	missense	probably damaging	0.98
R6321:Epb41l2	UTSW	10	25,344,026 (GRCm39)	missense	probably damaging	0.98
R6737:Epb41l2	UTSW	10	25,364,916 (GRCm39)	splice site	probably null
R6766:Epb41l2	UTSW	10	25,348,990 (GRCm39)	nonsense	probably null
R6834:Epb41l2	UTSW	10	25,369,502 (GRCm39)	missense	possibly damaging	0.92
R7023:Epb41l2	UTSW	10	25,388,875 (GRCm39)	missense	probably damaging	1.00
R7258:Epb41l2	UTSW	10	25,360,185 (GRCm39)	missense	probably damaging	1.00
R7688:Epb41l2	UTSW	10	25,355,036 (GRCm39)	missense	probably damaging	0.97
R7769:Epb41l2	UTSW	10	25,369,471 (GRCm39)	missense	probably benign
R7796:Epb41l2	UTSW	10	25,319,727 (GRCm39)	missense	probably benign	0.15
R8365:Epb41l2	UTSW	10	25,317,584 (GRCm39)	missense	probably benign	0.21
R8490:Epb41l2	UTSW	10	25,380,128 (GRCm39)	missense	probably damaging	1.00
R8676:Epb41l2	UTSW	10	25,319,674 (GRCm39)	missense	probably benign	0.03
R8744:Epb41l2	UTSW	10	25,317,725 (GRCm39)	missense	probably damaging	1.00
R9288:Epb41l2	UTSW	10	25,355,653 (GRCm39)	missense	possibly damaging	0.85
R9650:Epb41l2	UTSW	10	25,369,495 (GRCm39)	missense	probably benign	0.28
R9665:Epb41l2	UTSW	10	25,317,798 (GRCm39)	missense	probably benign
R9707:Epb41l2	UTSW	10	25,378,235 (GRCm39)	missense	probably damaging	1.00
Z1176:Epb41l2	UTSW	10	25,375,800 (GRCm39)	nonsense	probably null
Z1176:Epb41l2	UTSW	10	25,317,618 (GRCm39)	missense	probably benign	0.03
Z1177:Epb41l2	UTSW	10	25,355,639 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGGTGCTGCACTTCAG -3'
(R):5'- CTCTAGAGGGTGTCTCATGGTC -3'

Sequencing Primer
(F):5'- CCAGCACTTAGTGGACGAGTTG -3'
(R):5'- AGAGGGTGTCTCATGGTCTTATGAC -3'

Posted On

2016-06-06