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, NBL5, Epb4.1l5, Lulu1

MMRRC Submission

039027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119472767-119576730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119477684 bp (GRCm39)

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: 23,114,984 (GRCm39)	H181Q	probably damaging	Het
Abca13	T	A	11: 9,632,011 (GRCm39)	L4977*	probably null	Het
Abca8a	T	A	11: 109,919,016 (GRCm39)	Y1550F	probably damaging	Het
Actr2	C	T	11: 20,022,584 (GRCm39)	E296K	probably benign	Het
Agtpbp1	A	T	13: 59,681,753 (GRCm39)		probably benign	Het
Anks1b	A	C	10: 89,906,987 (GRCm39)	E268A	probably damaging	Het
C1rl	A	G	6: 124,485,465 (GRCm39)	T279A	probably benign	Het
C5ar2	T	C	7: 15,971,526 (GRCm39)	T134A	probably benign	Het
Cdkl3	G	A	11: 51,902,094 (GRCm39)	R101Q	probably damaging	Het
Celsr2	A	T	3: 108,321,654 (GRCm39)	F386Y	probably benign	Het
Chd1	C	T	17: 15,990,503 (GRCm39)	P1685L	probably damaging	Het
Chrne	G	T	11: 70,506,239 (GRCm39)	H402Q	probably benign	Het
Clvs1	A	G	4: 9,282,003 (GRCm39)	D149G	possibly damaging	Het
Cntnap5b	T	C	1: 100,182,888 (GRCm39)	Y620H	probably benign	Het
Col6a1	A	G	10: 76,549,458 (GRCm39)		probably null	Het
Cyp2d26	T	A	15: 82,674,434 (GRCm39)	I483F	probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dmac2l	A	T	12: 69,788,584 (GRCm39)	H161L	probably benign	Het
Eif1a	T	A	18: 46,741,114 (GRCm39)	N116K	possibly damaging	Het
Exoc7	A	G	11: 116,186,074 (GRCm39)	S376P	possibly damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gimap7	T	C	6: 48,700,657 (GRCm39)	I81T	probably damaging	Het
Gtf2a1l	T	C	17: 89,001,657 (GRCm39)	V171A	probably damaging	Het
Hax1	A	G	3: 89,902,940 (GRCm39)	S253P	probably damaging	Het
Hsd3b5	A	T	3: 98,526,671 (GRCm39)	D258E	probably damaging	Het
Kcnb1	G	T	2: 166,948,187 (GRCm39)	F220L	probably damaging	Het
Kif1a	T	A	1: 92,947,620 (GRCm39)	Y1708F	probably damaging	Het
Krt14	A	T	11: 100,095,090 (GRCm39)	I379N	probably damaging	Het
Lpxn	A	G	19: 12,781,401 (GRCm39)	I40V	probably benign	Het
Lrp1	C	T	10: 127,389,231 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,515 (GRCm39)	R395H	probably benign	Het
Mindy4	G	A	6: 55,295,271 (GRCm39)	W737*	probably null	Het
Mki67	C	A	7: 135,302,772 (GRCm39)	R754L	probably benign	Het
Morf4l1	A	G	9: 89,982,502 (GRCm39)	V144A	probably benign	Het
Mvb12a	T	C	8: 71,998,422 (GRCm39)	S186P	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nipal1	A	G	5: 72,825,183 (GRCm39)	N292S	probably damaging	Het
Nqo2	T	G	13: 34,156,461 (GRCm39)		probably null	Het
Or14a256	T	C	7: 86,264,848 (GRCm39)	Y335C	probably damaging	Het
Or2d3b	A	G	7: 106,514,200 (GRCm39)	K265R	probably benign	Het
Or5ak24	A	T	2: 85,260,365 (GRCm39)	N269K	probably benign	Het
Or6c214	C	T	10: 129,591,077 (GRCm39)	V81I	probably benign	Het
Osbpl7	C	A	11: 96,951,350 (GRCm39)	P507Q	probably damaging	Het
Pcdhb1	G	A	18: 37,400,475 (GRCm39)	G809S	probably benign	Het
Pcm1	T	C	8: 41,735,720 (GRCm39)	V846A	probably damaging	Het
Phf3	A	G	1: 30,902,253 (GRCm39)	L20P	probably damaging	Het
Pih1d1	A	G	7: 44,807,041 (GRCm39)	T58A	probably damaging	Het
Plekhn1	A	G	4: 156,308,021 (GRCm39)		probably null	Het
Plvap	A	T	8: 71,959,526 (GRCm39)	L422Q	probably damaging	Het
Polq	C	T	16: 36,882,492 (GRCm39)	A1273V	probably benign	Het
Prelid2	T	A	18: 42,068,289 (GRCm39)	I51F	probably damaging	Het
Ptpn18	G	A	1: 34,501,783 (GRCm39)	D8N	probably damaging	Het
Ptpra	T	A	2: 130,360,911 (GRCm39)	F190Y	probably damaging	Het
Pus7l	A	G	15: 94,438,393 (GRCm39)	S151P	probably benign	Het
Rsph6a	G	A	7: 18,791,595 (GRCm39)	D255N	probably benign	Het
Serpinb6c	A	T	13: 34,083,288 (GRCm39)	V42D	probably damaging	Het
Slc7a13	A	G	4: 19,818,866 (GRCm39)	N22S	probably benign	Het
Snx5	G	A	2: 144,095,726 (GRCm39)	R312C	probably damaging	Het
Stard9	T	C	2: 120,526,304 (GRCm39)	S854P	probably damaging	Het
Syne2	AAGAG	AAGAGAGAG	12: 76,144,733 (GRCm39)		probably null	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tlr12	A	G	4: 128,510,084 (GRCm39)	I722T	probably benign	Het
Tmem101	A	T	11: 102,046,692 (GRCm39)	M59K	possibly damaging	Het
Trim34a	C	T	7: 103,910,331 (GRCm39)	R378C	probably benign	Het
Trim35	T	A	14: 66,546,574 (GRCm39)	M447K	probably benign	Het
Trps1	C	A	15: 50,524,945 (GRCm39)	S704I	possibly damaging	Het
Vmn1r231	T	A	17: 21,110,433 (GRCm39)	S161C	probably damaging	Het
Vps13a	A	C	19: 16,676,261 (GRCm39)	N1237K	probably damaging	Het
Zfp619	G	T	7: 39,185,983 (GRCm39)	C671F	probably damaging	Het

Other mutations in Epb41l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Epb41l5	APN	1	119,495,577 (GRCm39)	missense	probably benign	0.03
IGL01983:Epb41l5	APN	1	119,506,814 (GRCm39)	splice site	probably benign
IGL02085:Epb41l5	APN	1	119,500,586 (GRCm39)	missense	probably benign
IGL02834:Epb41l5	APN	1	119,551,685 (GRCm39)	missense	probably benign	0.22
IGL02975:Epb41l5	APN	1	119,506,811 (GRCm39)	splice site	probably benign
IGL03001:Epb41l5	APN	1	119,545,374 (GRCm39)	missense	probably damaging	1.00
IGL03331:Epb41l5	APN	1	119,545,149 (GRCm39)	missense	probably damaging	1.00
R0096:Epb41l5	UTSW	1	119,551,641 (GRCm39)	splice site	probably benign
R0124:Epb41l5	UTSW	1	119,561,370 (GRCm39)	nonsense	probably null
R0128:Epb41l5	UTSW	1	119,477,632 (GRCm39)	missense	possibly damaging	0.81
R0130:Epb41l5	UTSW	1	119,477,632 (GRCm39)	missense	possibly damaging	0.81
R0241:Epb41l5	UTSW	1	119,495,509 (GRCm39)	splice site	probably null
R0357:Epb41l5	UTSW	1	119,536,934 (GRCm39)	missense	probably damaging	1.00
R0624:Epb41l5	UTSW	1	119,551,688 (GRCm39)	missense	probably damaging	1.00
R0711:Epb41l5	UTSW	1	119,551,641 (GRCm39)	splice site	probably benign
R1340:Epb41l5	UTSW	1	119,476,861 (GRCm39)	makesense	probably null
R1401:Epb41l5	UTSW	1	119,506,634 (GRCm39)	splice site	probably benign
R1416:Epb41l5	UTSW	1	119,477,606 (GRCm39)	splice site	probably benign
R1452:Epb41l5	UTSW	1	119,476,896 (GRCm39)	missense	probably damaging	1.00
R1646:Epb41l5	UTSW	1	119,477,752 (GRCm39)	splice site	probably benign
R1889:Epb41l5	UTSW	1	119,476,902 (GRCm39)	missense	possibly damaging	0.82
R1895:Epb41l5	UTSW	1	119,476,902 (GRCm39)	missense	possibly damaging	0.82
R3082:Epb41l5	UTSW	1	119,536,992 (GRCm39)	missense	probably damaging	1.00
R3742:Epb41l5	UTSW	1	119,532,973 (GRCm39)	missense	probably benign
R4194:Epb41l5	UTSW	1	119,535,823 (GRCm39)	missense	probably damaging	1.00
R4787:Epb41l5	UTSW	1	119,523,725 (GRCm39)	missense	probably benign	0.00
R4983:Epb41l5	UTSW	1	119,482,801 (GRCm39)	missense	probably benign	0.00
R6825:Epb41l5	UTSW	1	119,547,931 (GRCm39)	missense	possibly damaging	0.54
R6943:Epb41l5	UTSW	1	119,536,859 (GRCm39)	missense	probably damaging	1.00
R6944:Epb41l5	UTSW	1	119,536,859 (GRCm39)	missense	probably damaging	1.00
R7334:Epb41l5	UTSW	1	119,551,679 (GRCm39)	missense	probably damaging	1.00
R8553:Epb41l5	UTSW	1	119,477,671 (GRCm39)	missense	possibly damaging	0.88
R8904:Epb41l5	UTSW	1	119,547,936 (GRCm39)	missense	probably damaging	1.00
R8955:Epb41l5	UTSW	1	119,570,292 (GRCm39)	missense	probably damaging	1.00
R9147:Epb41l5	UTSW	1	119,570,319 (GRCm39)	missense	probably damaging	1.00
R9258:Epb41l5	UTSW	1	119,506,701 (GRCm39)	missense	probably benign
R9351:Epb41l5	UTSW	1	119,477,639 (GRCm39)	missense	probably benign	0.01
R9366:Epb41l5	UTSW	1	119,548,448 (GRCm39)	missense	probably damaging	1.00
R9370:Epb41l5	UTSW	1	119,561,312 (GRCm39)	missense	probably damaging	1.00
R9680:Epb41l5	UTSW	1	119,535,804 (GRCm39)	missense	probably damaging	1.00
R9779:Epb41l5	UTSW	1	119,545,093 (GRCm39)	critical splice donor site	probably null
Z1177:Epb41l5	UTSW	1	119,536,941 (GRCm39)	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