Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Epb41l5'

540742

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119545037-119649000 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119609129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 344 (R344Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128374 (fasta)

Gene Model

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

AlphaFold

Q8BGS1

Predicted Effect

probably damaging
Transcript: ENSMUST00000027632
AA Change: R344Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027632
Gene: ENSMUSG00000026383
AA Change: R344Q

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: R344Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058966
Gene: ENSMUSG00000026383
AA Change: R344Q

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: R344Q

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

SMART Domains

Protein: ENSMUSP00000128374
Gene: ENSMUSG00000026383
AA Change: R344Q

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: R344Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140227
Gene: ENSMUSG00000026383
AA Change: R344Q

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

0.3255

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	C	10: 82,296,222	I318R	probably benign	Het
Abcb1b	T	G	5: 8,813,693	V216G	probably damaging	Het
Abcb5	T	C	12: 118,911,530	R636G	probably benign	Het
Ago1	G	T	4: 126,460,422	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,619,547		probably null	Het
Anxa11	T	A	14: 25,874,752	F274I	probably damaging	Het
Ascc1	T	C	10: 60,013,653	L122P	probably damaging	Het
Bptf	T	C	11: 107,080,823	S953G	probably damaging	Het
Chml	T	A	1: 175,688,161	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,670,968	K262E	probably damaging	Het
Clhc1	T	G	11: 29,569,346	D384E	probably damaging	Het
Cnot2	G	A	10: 116,537,223		probably benign	Het
Cntnap1	T	C	11: 101,182,904	V627A	probably damaging	Het
Col6a4	A	G	9: 106,072,171	V755A	probably damaging	Het
Cyp4f18	T	A	8: 71,989,894	I406F	probably benign	Het
Dclre1a	T	C	19: 56,545,019	E381G	possibly damaging	Het
Dnah1	A	G	14: 31,268,904	Y3153H	probably damaging	Het
Dnah8	C	A	17: 30,794,659	D3791E	probably benign	Het
Dnah9	T	C	11: 66,085,149	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,968,292	R30H	probably benign	Het
Egln3	A	T	12: 54,183,952	I181N	probably benign	Het
Entpd6	A	G	2: 150,763,599	T250A	probably damaging	Het
Fam20b	T	C	1: 156,687,521	D258G	probably benign	Het
Fbxw18	A	T	9: 109,702,587	D21E	probably damaging	Het
Fbxw21	T	C	9: 109,157,535	E92G	probably damaging	Het
Fzd6	T	A	15: 39,025,817	M110K	possibly damaging	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Gm9268	T	C	7: 43,047,969	F817L	possibly damaging	Het
Golgb1	C	T	16: 36,912,113	P574L	probably benign	Het
Gpr153	A	G	4: 152,279,363	E80G	probably damaging	Het
Kcnt1	T	C	2: 25,877,828		probably benign	Het
Kcnt2	T	G	1: 140,584,065	V962G	probably benign	Het
Malt1	T	C	18: 65,437,920	V109A	probably benign	Het
March7	A	G	2: 60,234,243	I288V	probably benign	Het
Mief1	C	T	15: 80,249,443	R234C	probably damaging	Het
Morc3	A	G	16: 93,870,572	S613G	probably benign	Het
Myt1	A	G	2: 181,797,594	E345G	possibly damaging	Het
Napb	T	C	2: 148,706,969	T133A	probably benign	Het
Nwd1	T	C	8: 72,653,534	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,848,184	E67K	probably benign	Het
Obscn	T	C	11: 59,038,930	K5153R	probably damaging	Het
Olfr1441	G	T	19: 12,423,264	M318I	probably benign	Het
Olfr154	C	T	2: 85,663,851	M194I	probably benign	Het
Olfr212	T	C	6: 116,515,830	F18L	possibly damaging	Het
Olfr317	T	A	11: 58,732,242	S308C	possibly damaging	Het
Pdcd2	T	C	17: 15,525,370	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,530,161	W349R	probably damaging	Het
Prpf39	T	A	12: 65,042,680	V64E	probably benign	Het
Ptpn13	T	A	5: 103,476,991	W54R	probably null	Het
Rbms3	G	T	9: 117,110,105	P29Q	probably damaging	Het
Rnf123	A	G	9: 108,063,623	L679P	probably benign	Het
Samd4	T	A	14: 47,016,635	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,522,206	V426A	probably benign	Het
Slc12a1	A	G	2: 125,160,534	N145D	probably damaging	Het
Slc2a6	A	T	2: 27,026,064	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,064,883	I306L	probably benign	Het
Slx4ip	A	G	2: 137,068,275	K397E	probably damaging	Het
Smr3a	C	T	5: 88,008,090		probably benign	Het
Spef2	T	C	15: 9,592,749	E1502G	probably damaging	Het
Sri	A	T	5: 8,063,365	T119S	probably benign	Het
Synrg	T	A	11: 84,025,086	L1085H	probably damaging	Het
Taf7	A	T	18: 37,642,857	L219H	probably damaging	Het
Tmco3	T	A	8: 13,303,729	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,248,991	V239A	probably damaging	Het
Trpm1	T	A	7: 64,243,433	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,965,806	Y153N	probably benign	Het
Ttll11	T	C	2: 35,752,294	H675R	probably benign	Het
Unc50	C	T	1: 37,432,662	T131M	probably damaging	Het
Vgf	T	A	5: 137,032,352	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,249,313	I26V	unknown	Het
Vmn1r39	T	C	6: 66,805,221	M1V	probably null	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,216,059	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,216,274	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,597,629	F489L	probably benign	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
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
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'- GCCTTCAGCCACAGTATTGTTC -3'
(R):5'- TTCGTCTTTCAGGGCAAAGAAC -3'

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

Posted On

2018-11-28