Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Epb41l2'

661396

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

068531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25359798-25523519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25443776 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 169 (T169M)

Ref Sequence

ENSEMBL: ENSMUSP00000055122 (fasta)

Gene Model

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

AlphaFold

O70318

Predicted Effect

probably benign
Transcript: ENSMUST00000053748
AA Change: T169M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000055122
Gene: ENSMUSG00000019978
AA Change: T169M

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: T169M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000090314
Gene: ENSMUSG00000019978
AA Change: T169M

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: T169M

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000218903
AA Change: T169M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000219166

Predicted Effect

probably benign
Transcript: ENSMUST00000219224

Predicted Effect

probably benign
Transcript: ENSMUST00000219805
AA Change: T169M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000219900
AA Change: T169M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000219967

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Acsm3	T	A	7: 119,775,169	S281R	probably damaging	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	probably benign	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
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
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

Posted On

2021-03-08