Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Epb42'

557128

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120848372-120867358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120863843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 111 (D111G)

Ref Sequence

ENSEMBL: ENSMUSP00000099548 (fasta)

Gene Model

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

AlphaFold

P49222

Predicted Effect

probably benign
Transcript: ENSMUST00000023987
AA Change: D111G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: D111G

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
AA Change: D111G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: D111G

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

Coding Region Coverage

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

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 123,364,883 (GRCm39)	Q300*	probably null	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,350,050 (GRCm39)	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Entpd1	T	C	19: 40,713,430 (GRCm39)	Y188H	probably damaging	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 126,195,078 (GRCm39)	K887E	probably benign	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		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
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'- ATGCTGGTGTTACCCACAGG -3'
(R):5'- AGACCTTGATTTATACCTCTGACC -3'

Sequencing Primer
(F):5'- CAGGGCTGCCTGTTGGAG -3'
(R):5'- TCTGACCTGTGACCTGGAAGTC -3'

Posted On

2019-06-26