Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Epb41l5'

209789

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

039910-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119472767-119576730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119476902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 718 (D718G)

Ref Sequence

ENSEMBL: ENSMUSP00000058966 (fasta)

Gene Model

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

AlphaFold

Q8BGS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052404
AA Change: D718G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: D718G

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: D726G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: D726G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,034,815 (GRCm39)		noncoding transcript	Het
9130008F23Rik	T	C	17: 41,191,193 (GRCm39)	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607 (GRCm39)		probably null	Het
Acp6	C	T	3: 97,073,201 (GRCm39)	R81W	probably damaging	Het
Agbl1	A	C	7: 76,239,129 (GRCm39)	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,571,539 (GRCm39)	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,338,886 (GRCm39)	M532L	probably damaging	Het
Appl1	A	G	14: 26,647,470 (GRCm39)		probably benign	Het
Arhgef19	T	C	4: 140,976,624 (GRCm39)	F462S	probably damaging	Het
Astn1	A	G	1: 158,332,886 (GRCm39)		probably null	Het
AU015836	T	C	X: 93,012,985 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cadm2	T	C	16: 66,679,683 (GRCm39)	D50G	probably damaging	Het
Ccdc81	G	A	7: 89,531,502 (GRCm39)	Q324*	probably null	Het
Cd300lf	A	G	11: 115,011,206 (GRCm39)	V178A	probably benign	Het
Cdt1	T	C	8: 123,298,791 (GRCm39)	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,796,182 (GRCm39)	V225A	probably benign	Het
Cep295	T	C	9: 15,243,399 (GRCm39)	T1686A	possibly damaging	Het
Cfap54	A	G	10: 92,870,572 (GRCm39)	S684P	possibly damaging	Het
Clip1	C	A	5: 123,791,559 (GRCm39)	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,191,102 (GRCm39)	E226G	probably benign	Het
Col6a3	T	A	1: 90,731,433 (GRCm39)	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,486,356 (GRCm39)	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,518,679 (GRCm39)	A614E	probably benign	Het
Dpm1	C	T	2: 168,059,655 (GRCm39)	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,243,691 (GRCm39)		probably null	Het
Engase	T	C	11: 118,369,759 (GRCm39)	F57S	probably damaging	Het
Fam20a	T	C	11: 109,564,380 (GRCm39)	K458E	probably benign	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Gkn2	T	A	6: 87,355,137 (GRCm39)	Y115*	probably null	Het
Gtdc1	A	G	2: 44,481,926 (GRCm39)	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,564,152 (GRCm39)	D302G	probably benign	Het
Herc2	C	T	7: 55,839,561 (GRCm39)	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,639,060 (GRCm39)	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,211,472 (GRCm39)		probably benign	Het
Ift122	T	C	6: 115,871,382 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,316,063 (GRCm39)		probably benign	Het
Itgb2	A	T	10: 77,384,457 (GRCm39)	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,730,839 (GRCm39)	I65S	probably damaging	Het
Jpt2	T	C	17: 25,179,585 (GRCm39)	M1V	probably null	Het
Kcnt2	A	T	1: 140,512,031 (GRCm39)	H995L	probably damaging	Het
Kif20b	T	C	19: 34,918,608 (GRCm39)		probably benign	Het
Kif7	T	C	7: 79,360,211 (GRCm39)	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,099,877 (GRCm39)	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,904,383 (GRCm39)	D475G	probably damaging	Het
Lcor	T	C	19: 41,547,567 (GRCm39)	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,809,179 (GRCm39)	C2463*	probably null	Het
Marchf6	T	C	15: 31,459,339 (GRCm39)	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,313,488 (GRCm39)		probably null	Het
Mtrex	T	C	13: 113,024,024 (GRCm39)	N707S	probably benign	Het
Nipal4	T	A	11: 46,041,560 (GRCm39)	I212F	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Nwd2	A	G	5: 63,965,009 (GRCm39)	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Oosp1	C	T	19: 11,645,158 (GRCm39)	V169I	possibly damaging	Het
Opa1	T	C	16: 29,444,403 (GRCm39)	V863A	possibly damaging	Het
Or5ac22	T	G	16: 59,135,326 (GRCm39)	Y148S	probably damaging	Het
Pabpc4l	A	T	3: 46,400,798 (GRCm39)	M282K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcnx3	T	C	19: 5,722,684 (GRCm39)	D1336G	probably damaging	Het
Phlpp1	T	C	1: 106,246,580 (GRCm39)	V590A	possibly damaging	Het
Rbck1	T	A	2: 152,160,276 (GRCm39)	T468S	probably damaging	Het
Ripor2	T	A	13: 24,877,870 (GRCm39)	I290N	probably damaging	Het
Rnf139	T	C	15: 58,771,346 (GRCm39)	L457P	probably damaging	Het
Rtn1	C	A	12: 72,351,184 (GRCm39)	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,534,988 (GRCm39)		probably null	Het
Serpinb2	T	A	1: 107,452,337 (GRCm39)	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,552,668 (GRCm39)	V148A	probably damaging	Het
Shank2	C	A	7: 143,740,595 (GRCm39)	S568*	probably null	Het
Slc10a4	T	C	5: 73,169,490 (GRCm39)	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,400,550 (GRCm39)	T37A	probably benign	Het
Slc14a1	T	C	18: 78,152,912 (GRCm39)	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,461,269 (GRCm39)	D52E	probably benign	Het
Slc6a5	T	C	7: 49,601,182 (GRCm39)	M661T	probably benign	Het
Ssh2	C	G	11: 77,340,571 (GRCm39)	D574E	probably damaging	Het
Steap4	G	T	5: 8,025,892 (GRCm39)	R151L	probably damaging	Het
Sun5	T	A	2: 153,707,915 (GRCm39)	I107L	probably benign	Het
Tacc1	C	T	8: 25,665,269 (GRCm39)	V488M	probably damaging	Het
Tgs1	A	G	4: 3,614,928 (GRCm39)	T829A	probably benign	Het
Tnxb	A	G	17: 34,914,799 (GRCm39)	E1929G	probably damaging	Het
Tssc4	A	C	7: 142,624,292 (GRCm39)	Q200P	probably damaging	Het
Ttn	A	G	2: 76,588,876 (GRCm39)	W21398R	probably damaging	Het
Usp50	C	T	2: 126,619,818 (GRCm39)		probably null	Het
Usp9y	A	T	Y: 1,448,829 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,632 (GRCm39)	F33I	probably benign	Het
Zfat	T	C	15: 67,973,388 (GRCm39)	T1118A	probably benign	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
R0848:Epb41l5	UTSW	1	119,477,684 (GRCm39)	missense	probably benign	0.01
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
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'- GACTTCCAGTTGGACGGAAAATG -3'
(R):5'- AAGTGTACTTTAGCCTGGAGTCAG -3'

Sequencing Primer
(F):5'- GTTGGACGGAAAATGTAGCTACTCTC -3'
(R):5'- AGCAGGAGCATCAACTATGTAG -3'

Posted On

2014-06-30