Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Epb41l5'

53378

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

038409-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119545037-119649000 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119633640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 64 (K64*)

Ref Sequence

ENSEMBL: ENSMUSP00000140227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027632] [ENSMUST00000052404] [ENSMUST00000163147] [ENSMUST00000187194] [ENSMUST00000191046]

AlphaFold

Q8BGS1

Predicted Effect

probably null
Transcript: ENSMUST00000027632
AA Change: K64*

SMART Domains

Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: K64*

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 null
Transcript: ENSMUST00000052404
AA Change: K64*

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: K64*

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 null
Transcript: ENSMUST00000163147
AA Change: K64*

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: K64*

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 null
Transcript: ENSMUST00000187194
AA Change: K64*

SMART Domains

Protein: ENSMUSP00000139683
Gene: ENSMUSG00000026383
AA Change: K64*

Domain	Start	End	E-Value	Type
Pfam:FERM_N	47	114	1.7e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189042

Predicted Effect

probably null
Transcript: ENSMUST00000191046
AA Change: K64*

SMART Domains

Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: K64*

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

noncoding transcript
Transcript: ENSMUST00000192036

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,674	T194A	probably benign	Het
Afap1	C	T	5: 35,945,209	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,727,741	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,339,330	T1717I	probably damaging	Het
Atad2b	A	G	12: 4,952,676	K348R	probably benign	Het
B020004J07Rik	A	G	4: 101,835,373	*477Q	probably null	Het
Bcl3	C	T	7: 19,809,651	V5M	probably damaging	Het
C2cd3	A	G	7: 100,469,518	E2321G	probably benign	Het
Casq1	C	T	1: 172,210,425	V380M	probably damaging	Het
Cd209e	T	A	8: 3,851,274	T127S	probably benign	Het
Cdh23	G	T	10: 60,308,056	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,324	L750P	probably damaging	Het
Cdk12	T	C	11: 98,211,247		probably benign	Het
Ces5a	T	C	8: 93,528,555	E170G	probably damaging	Het
Clec4f	A	G	6: 83,652,353		probably null	Het
Col19a1	T	C	1: 24,526,458	N264S	unknown	Het
Col2a1	T	A	15: 97,998,862	I43F	unknown	Het
Col4a2	A	G	8: 11,408,871		probably benign	Het
Csmd3	T	A	15: 47,590,716	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,994,102	L128P	probably damaging	Het
Dysf	A	G	6: 84,065,102		probably benign	Het
Eml1	T	C	12: 108,506,608	V225A	probably benign	Het
Eml1	A	G	12: 108,509,178	Y256C	probably damaging	Het
Fat2	A	G	11: 55,283,678	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,691,515	H259N	probably benign	Het
Gm10764	A	T	10: 87,290,748	T6S	unknown	Het
Gm14412	A	G	2: 177,315,912		probably benign	Het
Heatr5b	A	T	17: 78,826,217		probably benign	Het
Hid1	T	C	11: 115,356,823	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,643,082		probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Lrriq1	C	T	10: 103,170,420		probably null	Het
Map3k13	A	G	16: 21,903,756	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,151		probably benign	Het
Myo6	A	G	9: 80,307,774	E1253G	probably damaging	Het
Nomo1	G	T	7: 46,083,228		probably benign	Het
Olfr1221	A	T	2: 89,111,744	I256K	possibly damaging	Het
Olfr160	A	G	9: 37,711,463	V272A	possibly damaging	Het
Olfr356	A	T	2: 36,937,256	I46F	possibly damaging	Het
Papolg	C	T	11: 23,867,535	A582T	probably benign	Het
Plekhm3	C	T	1: 64,921,751	E449K	probably damaging	Het
Pole	T	G	5: 110,303,992	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,483,478		probably benign	Het
Pros1	A	G	16: 62,913,946	T372A	possibly damaging	Het
Scara3	A	T	14: 65,931,221	S316T	probably benign	Het
St5	A	G	7: 109,542,511	S132P	possibly damaging	Het
Stau2	C	T	1: 16,463,128	A61T	probably damaging	Het
Stx3	T	C	19: 11,791,799	E54G	possibly damaging	Het
Sun1	T	C	5: 139,246,679		probably benign	Het
Swt1	A	T	1: 151,391,529	C634S	probably damaging	Het
Syt6	A	G	3: 103,587,526	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,717,411		probably benign	Het
Tmx4	A	T	2: 134,639,720		probably null	Het
Ttc39d	T	C	17: 80,216,946	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,215,248	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,528		probably null	Het
Wdr17	A	G	8: 54,635,491	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,363,758	F63L	probably benign	Het
Zfp142	A	G	1: 74,568,623	Y1561H	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
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
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'- AGTCCATGATCTGAAATTTGCCACTTCT -3'
(R):5'- TGCAACGAGCTAAATGAAGCAGTCATA -3'

Sequencing Primer
(F):5'- TGCAGTCATAATCGAACTTCCAAAAG -3'
(R):5'- TAGGGCAGTGACCCTACTGAAA -3'

Posted On

2013-06-26