Mutagenetix > Incidental Mutation

Incidental Mutation 'R0365:Epb41l2'

36356

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

038571-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

R0365 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

25235696-25399417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25345119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 286 (N286K)

Ref Sequence

ENSEMBL: ENSMUSP00000151332 (fasta)

Gene Model

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

AlphaFold

O70318

Predicted Effect

probably damaging
Transcript: ENSMUST00000053748
AA Change: N286K

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

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: N286K

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: N286K

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

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: N286K

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: N286K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218903
AA Change: N286K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219138

Predicted Effect

probably damaging
Transcript: ENSMUST00000219805
AA Change: N286K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219900
AA Change: N286K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220121

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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
9130401M01Rik	A	T	15: 57,892,088 (GRCm39)	M173K	probably benign	Het
Abcb1b	T	A	5: 8,856,009 (GRCm39)	F39Y	probably damaging	Het
Acbd3	A	G	1: 180,566,177 (GRCm39)	Y290C	probably damaging	Het
Alg12	A	C	15: 88,700,352 (GRCm39)	I28R	possibly damaging	Het
Amer2	A	T	14: 60,616,984 (GRCm39)	D393V	probably damaging	Het
Anxa5	A	T	3: 36,511,618 (GRCm39)	V153D	probably damaging	Het
Arl5a	T	C	2: 52,306,141 (GRCm39)	M64V	probably benign	Het
Astn1	T	C	1: 158,516,118 (GRCm39)	L1236P	probably damaging	Het
Atg2a	T	C	19: 6,297,713 (GRCm39)	S424P	possibly damaging	Het
AW551984	A	T	9: 39,510,617 (GRCm39)	S239R	probably benign	Het
Baz1b	T	C	5: 135,268,985 (GRCm39)	V1278A	probably benign	Het
Cbfa2t3	G	T	8: 123,361,799 (GRCm39)	L408I	probably benign	Het
Cdc27	A	T	11: 104,419,250 (GRCm39)	N227K	possibly damaging	Het
Cdh20	A	T	1: 110,036,486 (GRCm39)	Q555H	probably damaging	Het
Cdh23	T	A	10: 60,215,094 (GRCm39)	N1412I	probably damaging	Het
Cdhr2	T	C	13: 54,866,105 (GRCm39)	S302P	probably benign	Het
Cep350	C	A	1: 155,782,317 (GRCm39)	E1563D	probably benign	Het
Cfap221	T	A	1: 119,912,753 (GRCm39)	E107V	probably benign	Het
Col6a3	C	A	1: 90,715,938 (GRCm39)	R1641L	unknown	Het
Coro6	A	T	11: 77,354,916 (GRCm39)	I60F	probably benign	Het
Dennd2b	A	T	7: 109,138,156 (GRCm39)	V753E	probably damaging	Het
Dock10	G	T	1: 80,573,400 (GRCm39)	N245K	probably damaging	Het
Fam83g	G	T	11: 61,593,935 (GRCm39)	E490*	probably null	Het
Gnb1l	T	C	16: 18,371,211 (GRCm39)	I234T	possibly damaging	Het
Gtf3a	T	A	5: 146,885,747 (GRCm39)	W53R	probably damaging	Het
Ikzf4	T	C	10: 128,470,276 (GRCm39)	I415V	probably benign	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Il17ra	G	A	6: 120,455,410 (GRCm39)	V340M	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Kif24	A	T	4: 41,428,731 (GRCm39)	H76Q	probably benign	Het
Klhl25	T	C	7: 75,516,264 (GRCm39)	L390P	probably damaging	Het
Klhl26	T	C	8: 70,904,479 (GRCm39)	D443G	probably damaging	Het
Lama3	A	T	18: 12,640,064 (GRCm39)	R86S	probably damaging	Het
Lrrc24	G	A	15: 76,599,984 (GRCm39)	A385V	probably benign	Het
Maea	C	T	5: 33,517,787 (GRCm39)	A109V	probably benign	Het
Mtor	A	T	4: 148,570,507 (GRCm39)	Y1188F	probably benign	Het
Nccrp1	T	C	7: 28,243,977 (GRCm39)	D202G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Nup155	C	T	15: 8,161,027 (GRCm39)	R571W	probably damaging	Het
Nup160	T	A	2: 90,539,188 (GRCm39)	M789K	probably benign	Het
Odad2	T	A	18: 7,217,800 (GRCm39)	H638L	probably benign	Het
Or5an1c	A	G	19: 12,218,440 (GRCm39)	F195S	probably benign	Het
Or5p50	A	T	7: 107,422,124 (GRCm39)	L184*	probably null	Het
Or8d2b	A	T	9: 38,788,481 (GRCm39)	H3L	probably benign	Het
Pgpep1	G	T	8: 71,105,174 (GRCm39)		probably null	Het
Pkd1l2	C	T	8: 117,748,589 (GRCm39)	V1861M	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plin4	G	T	17: 56,411,667 (GRCm39)	T788K	possibly damaging	Het
Ppp3r2	T	C	4: 49,681,902 (GRCm39)	D16G	possibly damaging	Het
Pramel22	G	T	4: 143,382,071 (GRCm39)	Y208*	probably null	Het
Prdm16	A	T	4: 154,426,513 (GRCm39)	I424N	probably damaging	Het
Psen2	T	A	1: 180,056,410 (GRCm39)	I396F	probably damaging	Het
Psip1	C	T	4: 83,403,949 (GRCm39)		probably null	Het
Ptprd	G	A	4: 76,055,083 (GRCm39)	T215I	probably damaging	Het
Rec114	A	G	9: 58,648,822 (GRCm39)	S2P	probably benign	Het
Rexo1	A	G	10: 80,378,410 (GRCm39)	I1181T	probably damaging	Het
Rfx7	T	C	9: 72,527,118 (GRCm39)	M1436T	probably benign	Het
Rnf213	T	A	11: 119,316,937 (GRCm39)	V1020E	possibly damaging	Het
Rorc	G	A	3: 94,296,069 (GRCm39)	G83S	probably damaging	Het
Ryr2	T	G	13: 11,683,725 (GRCm39)	Q3113P	possibly damaging	Het
Shank1	T	C	7: 44,003,401 (GRCm39)	S1698P	possibly damaging	Het
Slc2a2	T	C	3: 28,762,828 (GRCm39)		probably null	Het
Slc5a9	A	T	4: 111,749,033 (GRCm39)	Y98*	probably null	Het
Smc6	T	C	12: 11,333,175 (GRCm39)		probably null	Het
Sptb	G	T	12: 76,647,157 (GRCm39)	F1959L	probably benign	Het
Srgap1	T	A	10: 121,621,610 (GRCm39)	H984L	possibly damaging	Het
Ssc5d	T	A	7: 4,931,466 (GRCm39)	C224*	probably null	Het
Ston2	A	T	12: 91,614,634 (GRCm39)	H591Q	probably benign	Het
Tbx3	C	T	5: 119,813,315 (GRCm39)	A222V	possibly damaging	Het
Thsd7a	A	G	6: 12,321,886 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,364,732 (GRCm39)	D1027G	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Zfpm2	A	G	15: 40,637,462 (GRCm39)	E74G	possibly damaging	Het
Zwint	C	A	10: 72,493,127 (GRCm39)	S223*	probably null	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
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
R5026:Epb41l2	UTSW	10	25,360,206 (GRCm39)	missense	possibly damaging	0.94
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'- cgcagcctcACGTTCCACC -3'
(R):5'- GCAAACAGACTCCACAAGTTACCTTCTT -3'

Sequencing Primer
(F):5'- Gtttgtttgtttgagacagagattc -3'
(R):5'- acccatctccctcttctcc -3'

Posted On

2013-05-09