Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Epb42'

680351

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120848372-120867358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120854767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 606 (D606G)

Ref Sequence

ENSEMBL: ENSMUSP00000023987 (fasta)

Gene Model

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

AlphaFold

P49222

Predicted Effect

probably benign
Transcript: ENSMUST00000023987
AA Change: D606G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: D606G

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: ENSMUST00000102490

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Rbm12b1	C	T	4: 12,145,689 (GRCm39)	R554C	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Vps33b	T	C	7: 79,932,241 (GRCm39)	C138R	possibly damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly damaging	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
R2157:Epb42	UTSW	2	120,852,243 (GRCm39)	missense	probably benign
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
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'- CTCTGTCTGGAATGCTTGGTAC -3'
(R):5'- GCAGTTGTTCATGCTCAAACC -3'

Sequencing Primer
(F):5'- GGTACATTTTTCTAGCTGGCCC -3'
(R):5'- AACCAGGGTAACTCTCTCTGG -3'

Posted On

2021-08-31