Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Epb42'

597586

Institutional Source

Beutler Lab

Gene Symbol

Epb42

Ensembl Gene

ENSMUSG00000023216

Gene Name

erythrocyte membrane protein band 4.2

Synonyms

Epb4.2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121017891-121037072 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121027719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 253 (R253G)

Ref Sequence

ENSEMBL: ENSMUSP00000099548 (fasta)

Gene Model

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

AlphaFold

P49222

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023987
AA Change: R253G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023987
Gene: ENSMUSG00000023216
AA Change: R253G

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: R253G

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099548
Gene: ENSMUSG00000023216
AA Change: R253G

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

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disc1	A	G	8: 125,087,504	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	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
R2866:Epb42	UTSW	2	121025921	missense	possibly damaging	0.93
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
R7154:Epb42	UTSW	2	121033362	missense	probably benign	0.01
R7192:Epb42	UTSW	2	121024097	missense	unknown
R7600:Epb42	UTSW	2	121021826	missense	probably damaging	1.00
R7779:Epb42	UTSW	2	121034435	missense	probably benign	0.14
R7781:Epb42	UTSW	2	121034435	missense	probably benign	0.14
R7782:Epb42	UTSW	2	121034435	missense	probably benign	0.14
R7783:Epb42	UTSW	2	121034435	missense	probably benign	0.14
R7784:Epb42	UTSW	2	121034435	missense	probably benign	0.14
R8737:Epb42	UTSW	2	121025843	missense	possibly damaging	0.75
R8915:Epb42	UTSW	2	121019506	missense	possibly damaging	0.92
R8930:Epb42	UTSW	2	121024286	missense	probably benign	0.00
R8932:Epb42	UTSW	2	121024286	missense	probably benign	0.00
R9746:Epb42	UTSW	2	121024610	missense	probably benign	0.00
Z1177:Epb42	UTSW	2	121027725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTTAAGAGATGTCCCTCCC -3'
(R):5'- CAAAGCTCTGGAGATTGAGTCAC -3'

Sequencing Primer
(F):5'- TTAAGAGATGTCCCTCCCACATGG -3'
(R):5'- CTCTGGAGATTGAGTCACACACTTG -3'

Posted On

2019-11-26