Mutagenetix > Incidental Mutation

Incidental Mutation 'R1401:Epb41l5'

160086

Institutional Source

Beutler Lab

Gene Symbol

Epb41l5

Ensembl Gene

ENSMUSG00000026383

Gene Name

erythrocyte membrane protein band 4.1 like 5

Synonyms

E230025E14Rik, 1700030C16Rik, Epb4.1l5, NBL5, Lulu1

MMRRC Submission

039463-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119545037-119649000 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 119578904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052404] [ENSMUST00000163147]

AlphaFold

Q8BGS1

Predicted Effect

probably benign
Transcript: ENSMUST00000052404

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	412	421	N/A	INTRINSIC
coiled coil region	482	512	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163147

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383

Domain	Start	End	E-Value	Type
B41	39	235	8.64e-68	SMART
FERM_C	239	331	1.07e-34	SMART
FA	336	380	1.16e-12	SMART
low complexity region	420	429	N/A	INTRINSIC
coiled coil region	490	520	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191162

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

MGI Phenotype

PHENOTYPE: Mice homozygous for a number of different mutations exhibit prenatal lethality and mesodermal and epithelial-mesenchymal transition defects during gastrulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abcg1	T	A	17: 31,114,158	I625N	possibly damaging	Het
Adam33	C	A	2: 131,051,471		probably benign	Het
Adgrl2	A	T	3: 148,822,981	I1185N	probably damaging	Het
Afp	A	T	5: 90,501,627		probably benign	Het
Aggf1	A	G	13: 95,364,848	V342A	probably benign	Het
Ankrd11	A	T	8: 122,893,050	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,733,469	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,548,641	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,323,093		probably null	Het
Barx2	A	G	9: 31,859,031	L67P	probably damaging	Het
Bbs7	G	A	3: 36,573,557	P694S	probably benign	Het
Btbd10	A	T	7: 113,347,059	V33E	probably benign	Het
C2	T	C	17: 34,872,481	T69A	possibly damaging	Het
C8b	T	G	4: 104,784,482	L205R	possibly damaging	Het
Cct4	T	G	11: 22,994,333	N72K	probably damaging	Het
Cd300lg	C	A	11: 102,054,155	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,947,497	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,811,019	H268L	probably benign	Het
Chia1	T	A	3: 106,128,939	D278E	probably benign	Het
Cntn6	A	G	6: 104,804,398	T482A	possibly damaging	Het
Cst13	T	A	2: 148,823,096	F4I	probably benign	Het
Ctsc	T	A	7: 88,281,498	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,605,051		probably null	Het
Dmxl2	A	T	9: 54,415,428		probably null	Het
Dnah5	A	C	15: 28,401,913	T3407P	probably damaging	Het
Dock1	T	A	7: 135,133,936	Y1344*	probably null	Het
Eif4g3	T	C	4: 138,206,084	V1740A	probably damaging	Het
Fam159b	A	T	13: 104,863,605	C37S	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fnbp1l	C	T	3: 122,546,306	R499Q	probably damaging	Het
Gm12790	A	G	4: 101,968,199	L6P	probably benign	Het
Gramd4	A	G	15: 86,125,196	D210G	probably damaging	Het
Hectd3	T	C	4: 117,002,269	S697P	possibly damaging	Het
Hsf4	T	C	8: 105,275,603	V399A	probably benign	Het
Hyal6	T	A	6: 24,743,435	C377S	probably damaging	Het
Myb	C	T	10: 21,152,945	V85M	probably damaging	Het
Mypn	A	G	10: 63,152,857	V463A	probably damaging	Het
Nav1	T	A	1: 135,460,425	I1144L	probably benign	Het
Nckap5	A	G	1: 126,014,661		probably benign	Het
Nipbl	A	T	15: 8,372,173	S30T	probably damaging	Het
Nmt1	T	C	11: 103,057,481	F277S	probably damaging	Het
Nploc4	A	C	11: 120,383,289		probably benign	Het
Nup54	C	A	5: 92,428,221	R137I	probably damaging	Het
Olfr667	T	C	7: 104,916,756	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,854,487	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,363,109	T763A	probably damaging	Het
Pmepa1	C	T	2: 173,228,575		probably null	Het
Ppfia2	A	G	10: 106,830,657	E408G	possibly damaging	Het
Pramef12	G	A	4: 144,395,088	T122M	probably benign	Het
Prl8a2	G	A	13: 27,353,996	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
RP23-114B10.6	T	C	8: 69,373,370		noncoding transcript	Het
Slc13a1	A	T	6: 24,118,083		probably null	Het
Slc17a8	T	A	10: 89,591,214	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,352,662	E519G	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc39a5	G	A	10: 128,397,741	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,929,885		noncoding transcript	Het
Slco6d1	G	A	1: 98,490,616	G509D	probably damaging	Het
Spen	A	G	4: 141,471,821	V3142A	probably damaging	Het
Spta1	T	A	1: 174,222,684	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,559,952		probably benign	Het
Stard9	T	C	2: 120,712,847		probably benign	Het
Stat4	A	G	1: 52,071,947		probably benign	Het
Svbp	T	A	4: 119,196,028		probably benign	Het
Tm2d1	A	T	4: 98,370,596		probably benign	Het
Trpv1	C	A	11: 73,240,126		probably null	Het
Trrap	A	G	5: 144,857,422	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,955,644	D165V	probably benign	Het
Utrn	C	A	10: 12,649,153	M2195I	probably benign	Het
Vmn1r229	G	A	17: 20,814,642	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,893,650	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,386,596		probably benign	Het
Vmn2r27	A	C	6: 124,191,632	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,391,990	S126C	possibly damaging	Het
Xylb	T	A	9: 119,368,067		probably benign	Het
Zfp282	A	T	6: 47,890,174	K232*	probably null	Het
Zfp39	C	A	11: 58,890,323	V538L	probably benign	Het
Zfp560	T	C	9: 20,351,853	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,911,169	V433I	probably benign	Het
Zscan5b	A	G	7: 6,230,426	E83G	probably damaging	Het

Other mutations in Epb41l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Epb41l5	APN	1	119567847	missense	probably benign	0.03
IGL01983:Epb41l5	APN	1	119579084	splice site	probably benign
IGL02085:Epb41l5	APN	1	119572856	missense	probably benign
IGL02834:Epb41l5	APN	1	119623955	missense	probably benign	0.22
IGL02975:Epb41l5	APN	1	119579081	splice site	probably benign
IGL03001:Epb41l5	APN	1	119617644	missense	probably damaging	1.00
IGL03331:Epb41l5	APN	1	119617419	missense	probably damaging	1.00
R0096:Epb41l5	UTSW	1	119623911	splice site	probably benign
R0124:Epb41l5	UTSW	1	119633640	nonsense	probably null
R0128:Epb41l5	UTSW	1	119549902	missense	possibly damaging	0.81
R0130:Epb41l5	UTSW	1	119549902	missense	possibly damaging	0.81
R0241:Epb41l5	UTSW	1	119567779	splice site	probably null
R0357:Epb41l5	UTSW	1	119609204	missense	probably damaging	1.00
R0624:Epb41l5	UTSW	1	119623958	missense	probably damaging	1.00
R0711:Epb41l5	UTSW	1	119623911	splice site	probably benign
R0848:Epb41l5	UTSW	1	119549954	missense	probably benign	0.01
R1340:Epb41l5	UTSW	1	119549131	makesense	probably null
R1416:Epb41l5	UTSW	1	119549876	splice site	probably benign
R1452:Epb41l5	UTSW	1	119549166	missense	probably damaging	1.00
R1646:Epb41l5	UTSW	1	119550022	splice site	probably benign
R1889:Epb41l5	UTSW	1	119549172	missense	possibly damaging	0.82
R1895:Epb41l5	UTSW	1	119549172	missense	possibly damaging	0.82
R3082:Epb41l5	UTSW	1	119609262	missense	probably damaging	1.00
R3742:Epb41l5	UTSW	1	119605243	missense	probably benign
R4194:Epb41l5	UTSW	1	119608093	missense	probably damaging	1.00
R4787:Epb41l5	UTSW	1	119595995	missense	probably benign	0.00
R4983:Epb41l5	UTSW	1	119555071	missense	probably benign	0.00
R6825:Epb41l5	UTSW	1	119620201	missense	possibly damaging	0.54
R6943:Epb41l5	UTSW	1	119609129	missense	probably damaging	1.00
R6944:Epb41l5	UTSW	1	119609129	missense	probably damaging	1.00
R7334:Epb41l5	UTSW	1	119623949	missense	probably damaging	1.00
R8553:Epb41l5	UTSW	1	119549941	missense	possibly damaging	0.88
R8904:Epb41l5	UTSW	1	119620206	missense	probably damaging	1.00
R8955:Epb41l5	UTSW	1	119642562	missense	probably damaging	1.00
R9147:Epb41l5	UTSW	1	119642589	missense	probably damaging	1.00
R9258:Epb41l5	UTSW	1	119578971	missense	probably benign
R9351:Epb41l5	UTSW	1	119549909	missense	probably benign	0.01
R9366:Epb41l5	UTSW	1	119620718	missense	probably damaging	1.00
R9370:Epb41l5	UTSW	1	119633582	missense	probably damaging	1.00
R9680:Epb41l5	UTSW	1	119608074	missense	probably damaging	1.00
R9779:Epb41l5	UTSW	1	119617363	critical splice donor site	probably null
Z1177:Epb41l5	UTSW	1	119609211	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCCATCTATCTTGTGCCCCAGAAG -3'
(R):5'- CGTTGATTTGCTCAACAGCCCAGAC -3'

Sequencing Primer
(F):5'- gcctgccctcttgcttc -3'
(R):5'- CAGACTTACTAGAAACAACCATTGG -3'

Posted On

2014-03-14