Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Epb42'

234885

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120848372-120867358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120852243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 583 (M583I)

Ref Sequence

ENSEMBL: ENSMUSP00000099548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023987] [ENSMUST00000060455] [ENSMUST00000099489] [ENSMUST00000102490]

AlphaFold

P49222

Predicted Effect

probably benign
Transcript: ENSMUST00000023987

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216

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

probably benign
Transcript: ENSMUST00000060455

SMART Domains

Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	50	318	4.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099489

SMART Domains

Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572

Domain	Start	End	E-Value	Type
Pfam:GCIP	3	271	3.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102490
AA Change: M583I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: M583I

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: ENSMUST00000145812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147444

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	Het

Other mutations in Epb42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01535:Epb42	APN	2	120,858,169 (GRCm39)	missense	probably damaging	1.00
IGL01627:Epb42	APN	2	120,856,324 (GRCm39)	missense	probably benign	0.06
IGL02059:Epb42	APN	2	120,855,188 (GRCm39)	missense	probably damaging	0.96
IGL02869:Epb42	APN	2	120,856,227 (GRCm39)	missense	probably benign
R0279:Epb42	UTSW	2	120,859,525 (GRCm39)	splice site	probably benign
R0521:Epb42	UTSW	2	120,859,631 (GRCm39)	nonsense	probably null
R1457:Epb42	UTSW	2	120,860,448 (GRCm39)	critical splice donor site	probably null
R2392:Epb42	UTSW	2	120,860,468 (GRCm39)	missense	possibly damaging	0.85
R2407:Epb42	UTSW	2	120,855,233 (GRCm39)	missense	probably damaging	1.00
R2866:Epb42	UTSW	2	120,856,402 (GRCm39)	missense	possibly damaging	0.93
R2993:Epb42	UTSW	2	120,859,525 (GRCm39)	splice site	probably benign
R3426:Epb42	UTSW	2	120,860,520 (GRCm39)	missense	probably damaging	1.00
R3427:Epb42	UTSW	2	120,860,520 (GRCm39)	missense	probably damaging	1.00
R4192:Epb42	UTSW	2	120,860,570 (GRCm39)	splice site	probably null
R4940:Epb42	UTSW	2	120,864,932 (GRCm39)	missense	probably damaging	1.00
R5368:Epb42	UTSW	2	120,849,943 (GRCm39)	missense	probably benign	0.22
R5771:Epb42	UTSW	2	120,852,301 (GRCm39)	missense	probably damaging	0.99
R6048:Epb42	UTSW	2	120,854,889 (GRCm39)	missense	probably benign	0.00
R6362:Epb42	UTSW	2	120,856,260 (GRCm39)	missense	possibly damaging	0.72
R6475:Epb42	UTSW	2	120,857,614 (GRCm39)	missense	possibly damaging	0.53
R6711:Epb42	UTSW	2	120,854,589 (GRCm39)	intron	probably benign
R6843:Epb42	UTSW	2	120,858,166 (GRCm39)	missense	possibly damaging	0.85
R6895:Epb42	UTSW	2	120,867,104 (GRCm39)	start gained	probably benign
R7154:Epb42	UTSW	2	120,863,843 (GRCm39)	missense	probably benign	0.01
R7192:Epb42	UTSW	2	120,854,578 (GRCm39)	missense	unknown
R7600:Epb42	UTSW	2	120,852,307 (GRCm39)	missense	probably damaging	1.00
R7757:Epb42	UTSW	2	120,858,200 (GRCm39)	missense	possibly damaging	0.91
R7779:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7781:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7782:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7783:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R7784:Epb42	UTSW	2	120,864,916 (GRCm39)	missense	probably benign	0.14
R8737:Epb42	UTSW	2	120,856,324 (GRCm39)	missense	possibly damaging	0.75
R8915:Epb42	UTSW	2	120,849,987 (GRCm39)	missense	possibly damaging	0.92
R8930:Epb42	UTSW	2	120,854,767 (GRCm39)	missense	probably benign	0.00
R8932:Epb42	UTSW	2	120,854,767 (GRCm39)	missense	probably benign	0.00
R9746:Epb42	UTSW	2	120,855,091 (GRCm39)	missense	probably benign	0.00
Z1177:Epb42	UTSW	2	120,858,206 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTAGGGAGAGGCAACAC -3'
(R):5'- ACTCCGTGCTTTGTACTGAC -3'

Sequencing Primer
(F):5'- AGGGACAGTCATCGATTTCAAGTGTC -3'
(R):5'- ACTGACTTGCCTATTGAATGTTGCAG -3'

Posted On

2014-10-01