Mutagenetix > Incidental Mutation

Incidental Mutation 'R0848:Epb41l5'

77397

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

039027-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119545037-119649000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119549954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 696 (C696S)

Ref Sequence

ENSEMBL: ENSMUSP00000128374 (fasta)

Gene Model

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

AlphaFold

Q8BGS1

Predicted Effect

probably benign
Transcript: ENSMUST00000052404
AA Change: C688S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: C688S

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
AA Change: C696S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: C696S

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: ENSMUST00000191162

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,114,985	H181Q	probably damaging	Het
Abca13	T	A	11: 9,682,011	L4977*	probably null	Het
Abca8a	T	A	11: 110,028,190	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,072,584	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,533,939		probably benign	Het
Anks1b	A	C	10: 90,071,125	E268A	probably damaging	Het
Atp5s	A	T	12: 69,741,810	H161L	probably benign	Het
C1rl	A	G	6: 124,508,506	T279A	probably benign	Het
C5ar2	T	C	7: 16,237,601	T134A	probably benign	Het
Cdkl3	G	A	11: 52,011,267	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,414,338	F386Y	probably benign	Het
Chd1	C	T	17: 15,770,241	P1685L	probably damaging	Het
Chrne	G	T	11: 70,615,413	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,255,163	Y620H	probably benign	Het
Col6a1	A	G	10: 76,713,624		probably null	Het
Cyp2d26	T	A	15: 82,790,233	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Eif1a	T	A	18: 46,608,047	N116K	possibly damaging	Het
Exoc7	A	G	11: 116,295,248	S376P	possibly damaging	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gimap7	T	C	6: 48,723,723	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 88,694,229	V171A	probably damaging	Het
Hax1	A	G	3: 89,995,633	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,619,355	D258E	probably damaging	Het
Kcnb1	G	T	2: 167,106,267	F220L	probably damaging	Het
Kif1a	T	A	1: 93,019,898	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,204,264	I379N	probably damaging	Het
Lpxn	A	G	19: 12,804,037	I40V	probably benign	Het
Lrp1	C	T	10: 127,553,362		probably null	Het
Lyst	G	A	13: 13,634,930	R395H	probably benign	Het
Mindy4	G	A	6: 55,318,286	W737*	probably null	Het
Mki67	C	A	7: 135,701,043	R754L	probably benign	Het
Morf4l1	A	G	9: 90,100,449	V144A	probably benign	Het
Mvb12a	T	C	8: 71,545,778	S186P	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Nipal1	A	G	5: 72,667,840	N292S	probably damaging	Het
Nqo2	T	G	13: 33,972,478		probably null	Het
Olfr1532-ps1	A	G	7: 106,914,993	K265R	probably benign	Het
Olfr294	T	C	7: 86,615,640	Y335C	probably damaging	Het
Olfr807	C	T	10: 129,755,208	V81I	probably benign	Het
Olfr994	A	T	2: 85,430,021	N269K	probably benign	Het
Osbpl7	C	A	11: 97,060,524	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,267,422	G809S	probably benign	Het
Pcm1	T	C	8: 41,282,683	V846A	probably damaging	Het
Phf3	A	G	1: 30,863,172	L20P	probably damaging	Het
Pih1d1	A	G	7: 45,157,617	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,223,564		probably null	Het
Plvap	A	T	8: 71,506,882	L422Q	probably damaging	Het
Polq	C	T	16: 37,062,130	A1273V	probably benign	Het
Prelid2	T	A	18: 41,935,224	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,462,702	D8N	probably damaging	Het
Ptpra	T	A	2: 130,518,991	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,540,512	S151P	probably benign	Het
Rsph6a	G	A	7: 19,057,670	D255N	probably benign	Het
Serpinb6c	A	T	13: 33,899,305	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866	N22S	probably benign	Het
Snx5	G	A	2: 144,253,806	R312C	probably damaging	Het
Stard9	T	C	2: 120,695,823	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,097,959		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tlr12	A	G	4: 128,616,291	I722T	probably benign	Het
Tmem101	A	T	11: 102,155,866	M59K	possibly damaging	Het
Trim34a	C	T	7: 104,261,124	R378C	probably benign	Het
Trim35	T	A	14: 66,309,125	M447K	probably benign	Het
Trps1	C	A	15: 50,661,549	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 20,890,171	S161C	probably damaging	Het
Vps13a	A	C	19: 16,698,897	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,536,559	C671F	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
R1340:Epb41l5	UTSW	1	119549131	makesense	probably null
R1401:Epb41l5	UTSW	1	119578904	splice site	probably benign
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'- GCGTCACTACGATTGCAGGCAC -3'
(R):5'- CCTGGGGACATCAGAGCCTCTTTC -3'

Sequencing Primer
(F):5'- TACGATTGCAGGCACAATCAG -3'
(R):5'- CCTGCTCCAGTCAGTGACAC -3'

Posted On

2013-10-16