Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Epb41l5'

29849

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

038563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0357 (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 119536934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 319 (H319R)

Ref Sequence

ENSEMBL: ENSMUSP00000140227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027632] [ENSMUST00000052404] [ENSMUST00000163147] [ENSMUST00000191046]

AlphaFold

Q8BGS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027632
AA Change: H319R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: H319R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000052404
AA Change: H319R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: H319R

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 damaging
Transcript: ENSMUST00000163147
AA Change: H319R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: H319R

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

probably damaging
Transcript: ENSMUST00000191046
AA Change: H319R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: H319R

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

Meta Mutation Damage Score

0.7794

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,778,463 (GRCm39)	K232E	probably benign	Het
AI837181	C	T	19: 5,476,731 (GRCm39)	T298I	possibly damaging	Het
Alox12	T	C	11: 70,133,362 (GRCm39)	Y614C	probably damaging	Het
Amn	A	T	12: 111,240,575 (GRCm39)		probably null	Het
Ankrd33b	A	G	15: 31,305,272 (GRCm39)	S121P	probably benign	Het
Aox1	A	G	1: 58,131,675 (GRCm39)	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314 (GRCm39)	R736L	probably benign	Het
Atp2a3	G	A	11: 72,861,757 (GRCm39)		probably null	Het
Cables2	T	C	2: 179,904,025 (GRCm39)		probably benign	Het
Catsperg2	A	T	7: 29,414,326 (GRCm39)	Y360N	possibly damaging	Het
Cdh4	T	C	2: 179,489,133 (GRCm39)	S282P	probably damaging	Het
Col5a3	C	T	9: 20,719,064 (GRCm39)		probably benign	Het
Ctso	A	T	3: 81,858,850 (GRCm39)		probably benign	Het
Cyp4f13	A	T	17: 33,151,625 (GRCm39)	Y125*	probably null	Het
Dapk1	T	A	13: 60,877,372 (GRCm39)	L537*	probably null	Het
Ddit4l	G	A	3: 137,331,946 (GRCm39)	R104Q	probably benign	Het
Def6	C	T	17: 28,442,909 (GRCm39)	H322Y	probably damaging	Het
Dnaaf9	A	T	2: 130,554,866 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,165,342 (GRCm39)	N588D	probably benign	Het
Dzip1	T	A	14: 119,146,950 (GRCm39)	I320F	probably damaging	Het
Erc2	A	G	14: 27,498,979 (GRCm39)	E285G	probably damaging	Het
Fat4	G	A	3: 38,945,376 (GRCm39)	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,839 (GRCm39)	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,762 (GRCm39)	A126T	probably damaging	Het
Gbp5	G	A	3: 142,211,172 (GRCm39)	D301N	probably benign	Het
Gm10360	T	C	6: 70,401,297 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,387,604 (GRCm39)		noncoding transcript	Het
Gm8674	T	A	13: 50,056,149 (GRCm39)		noncoding transcript	Het
H2bc18	A	C	3: 96,177,104 (GRCm39)	K13Q	probably null	Het
Ift172	A	G	5: 31,415,244 (GRCm39)	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Insrr	A	C	3: 87,715,953 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,945,019 (GRCm39)	M580K	probably benign	Het
Krt87	C	T	15: 101,384,900 (GRCm39)	V399M	probably benign	Het
Macf1	T	C	4: 123,351,776 (GRCm39)	N3708S	probably damaging	Het
Matcap1	A	T	8: 106,011,699 (GRCm39)	V222E	probably damaging	Het
Mogat1	T	C	1: 78,488,677 (GRCm39)	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,631,574 (GRCm39)	M9K	probably benign	Het
Mtus1	A	T	8: 41,536,563 (GRCm39)	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,546,771 (GRCm39)	M306K	probably benign	Het
Noxa1	G	T	2: 24,975,862 (GRCm39)	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or10ak12	A	C	4: 118,666,614 (GRCm39)	L149R	probably damaging	Het
Or2y1f	A	G	11: 49,184,613 (GRCm39)	N155S	probably damaging	Het
Or6k4	T	A	1: 173,964,865 (GRCm39)	L185*	probably null	Het
Or6n1	T	C	1: 173,916,675 (GRCm39)	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,963,621 (GRCm39)		probably benign	Het
Paxx	T	A	2: 25,350,079 (GRCm39)	E145D	probably damaging	Het
Pde4d	T	C	13: 110,087,802 (GRCm39)	V560A	possibly damaging	Het
Pheta2	C	T	15: 82,227,517 (GRCm39)	A12V	probably damaging	Het
Plxnd1	C	T	6: 115,946,421 (GRCm39)	V847M	probably benign	Het
Polk	T	A	13: 96,641,105 (GRCm39)	M151L	probably damaging	Het
Ptprq	C	T	10: 107,522,060 (GRCm39)		probably benign	Het
Pum2	A	G	12: 8,771,785 (GRCm39)	Q371R	possibly damaging	Het
Reln	G	A	5: 22,155,820 (GRCm39)	A2224V	probably damaging	Het
Rmc1	T	C	18: 12,312,266 (GRCm39)	S169P	possibly damaging	Het
Scart1	T	G	7: 139,807,808 (GRCm39)	C660G	probably damaging	Het
Shroom1	A	G	11: 53,356,035 (GRCm39)	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,158,158 (GRCm39)		probably null	Het
Spg11	A	C	2: 121,896,713 (GRCm39)		probably benign	Het
Tcaf3	T	A	6: 42,566,761 (GRCm39)	Y776F	probably damaging	Het
Thada	A	G	17: 84,538,364 (GRCm39)	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,481,130 (GRCm39)	P410S	probably damaging	Het
Ube2u	G	T	4: 100,338,851 (GRCm39)	E39*	probably null	Het
Ulbp3	A	T	10: 3,070,307 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,075,788 (GRCm39)		noncoding transcript	Het
Vmn2r2	C	T	3: 64,041,320 (GRCm39)		probably null	Het
Vmn2r24	TCC	TC	6: 123,792,369 (GRCm39)		probably null	Het
Wdr87-ps	A	T	7: 29,235,007 (GRCm39)		noncoding transcript	Het
Zfp110	A	G	7: 12,570,302 (GRCm39)	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,272,245 (GRCm39)	T55A	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
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
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'- CCAACTGGCCTTCAGCCACAGTA -3'
(R):5'- AGGACCTTGGAAAGTGTCAGGTGTA -3'

Sequencing Primer
(F):5'- CTGTATGAGATAAACCTGTCAGATTG -3'
(R):5'- gccatctctccagcacc -3'

Posted On

2013-04-24