Mutagenetix > Incidental Mutations

Incidental Mutation 'R2866:Epb42'

253204

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

040455-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121017891-121037072 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121025921 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 381 (A381T)

Ref Sequence

ENSEMBL: ENSMUSP00000023987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000102490]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023987
AA Change: A381T

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: A381T

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	5	126	8.9e-35	PFAM
TGc	260	353	3.52e-27	SMART
low complexity region	442	458	N/A	INTRINSIC
Pfam:Transglut_C	475	552	5.1e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102490
AA Change: A381T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: A381T

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	6	124	5.8e-34	PFAM
TGc	260	353	3.52e-27	SMART
low complexity region	442	458	N/A	INTRINSIC
Pfam:Transglut_C	475	580	8e-23	PFAM
Pfam:Transglut_C	588	686	8.8e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147444

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is the key component of a macromolecular complex involved in the structure of erythrocytes. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit erythrocytic abnormalities including mild spherocytosis, altered ion transport, and dehydration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atmin	T	A	8: 116,956,373	D257E	probably benign	Het
Best1	T	C	19: 9,986,221	E532G	probably benign	Het
Cenpj	T	C	14: 56,552,180	H804R	probably benign	Het
Clec2g	T	C	6: 128,948,756	S43P	probably benign	Het
Col8a2	A	G	4: 126,311,199		probably benign	Het
Cpz	T	C	5: 35,502,361	K647E	probably benign	Het
Csmd2	T	C	4: 128,414,392		probably null	Het
Ctss	A	G	3: 95,545,406	K166R	probably benign	Het
Cyp2c23	T	C	19: 44,005,446	R494G	probably damaging	Het
Cyp2c68	A	G	19: 39,689,145	I467T	probably damaging	Het
Dcaf11	A	T	14: 55,565,745	T299S	possibly damaging	Het
Dennd1b	A	G	1: 139,170,281	S762G	possibly damaging	Het
Fhad1	A	G	4: 141,920,788	Y256H	probably benign	Het
Gfra1	C	T	19: 58,239,307	A395T	possibly damaging	Het
Gm10323	C	A	13: 66,854,510	C55F	probably benign	Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Greb1	T	C	12: 16,699,550	S1092G	probably damaging	Het
Grid1	A	T	14: 35,562,559	D753V	probably damaging	Het
Grin2b	A	G	6: 135,733,639	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,373,207	N682K	probably benign	Het
Lat2	T	A	5: 134,605,944	D114V	probably damaging	Het
Lcat	C	T	8: 105,939,879	C337Y	probably damaging	Het
Mapk10	C	T	5: 103,038,682	D25N	probably benign	Het
Mroh7	C	T	4: 106,691,090	G1064R	probably damaging	Het
Olfr1089	A	T	2: 86,733,429	F61Y	possibly damaging	Het
Olfr1564	T	A	17: 33,216,278	H22L	probably benign	Het
Olfr467	T	A	7: 107,814,919	C112S	probably benign	Het
Olfr615	A	T	7: 103,560,857	I127F	probably damaging	Het
Psg27	T	A	7: 18,561,893	D209V	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Pzp	A	G	6: 128,525,264	S41P	possibly damaging	Het
Rab23	A	T	1: 33,738,295	K163N	possibly damaging	Het
Rilpl2	T	C	5: 124,477,835	D84G	probably damaging	Het
Sorl1	A	G	9: 41,969,781	I2148T	probably benign	Het
Tead1	A	G	7: 112,759,487	E2G	probably damaging	Het
Tigd4	A	G	3: 84,593,952	N59D	possibly damaging	Het
Tmprss15	T	A	16: 79,035,233	D345V	possibly damaging	Het
Togaram2	T	C	17: 71,709,597	S649P	probably benign	Het
Ucp2	T	C	7: 100,497,252	V95A	probably benign	Het
Usp17lb	T	C	7: 104,840,748	D323G	probably damaging	Het
Zfp677	A	T	17: 21,397,256	K192*	probably null	Het
Zmym2	T	A	14: 56,928,248	I676K	probably damaging	Het
Znrd1as	A	T	17: 36,965,160	R211S	possibly damaging	Het

Other mutations in Epb42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Epb42	APN	2	121027688	missense	probably damaging	1.00
IGL01627:Epb42	APN	2	121025843	missense	probably benign	0.06
IGL02059:Epb42	APN	2	121024707	missense	probably damaging	0.96
IGL02869:Epb42	APN	2	121025746	missense	probably benign
R0279:Epb42	UTSW	2	121029044	splice site	probably benign
R0521:Epb42	UTSW	2	121029150	nonsense	probably null
R1457:Epb42	UTSW	2	121029967	critical splice donor site	probably null
R2157:Epb42	UTSW	2	121021762	missense	probably benign
R2392:Epb42	UTSW	2	121029987	missense	possibly damaging	0.85
R2407:Epb42	UTSW	2	121024752	missense	probably damaging	1.00
R2993:Epb42	UTSW	2	121029044	splice site	probably benign
R3426:Epb42	UTSW	2	121030039	missense	probably damaging	1.00
R3427:Epb42	UTSW	2	121030039	missense	probably damaging	1.00
R4192:Epb42	UTSW	2	121030089	splice site	probably null
R4940:Epb42	UTSW	2	121034451	missense	probably damaging	1.00
R5368:Epb42	UTSW	2	121019462	missense	probably benign	0.22
R5771:Epb42	UTSW	2	121021820	missense	probably damaging	0.99
R6048:Epb42	UTSW	2	121024408	missense	probably benign	0.00
R6362:Epb42	UTSW	2	121025779	missense	possibly damaging	0.72
R6475:Epb42	UTSW	2	121027133	missense	possibly damaging	0.53
R6711:Epb42	UTSW	2	121024108	intron	probably benign
R6843:Epb42	UTSW	2	121027685	missense	possibly damaging	0.85
R6895:Epb42	UTSW	2	121036623	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGCTATCTCAGGTGGACAG -3'
(R):5'- CGACCTTGATTCCTGAGAAGG -3'

Sequencing Primer
(F):5'- TGGACAGGCCAGTTCCCATG -3'
(R):5'- TTCCTGAGAAGGAAAAATGATTACAG -3'

Posted On

2014-12-04