Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Epb41l4a'

591901

Institutional Source

Beutler Lab

Gene Symbol

Epb41l4a

Ensembl Gene

ENSMUSG00000024376

Gene Name

erythrocyte membrane protein band 4.1 like 4a

Synonyms

NBL4, Epb4.1l4a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33796327-34007206 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34006016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 23 (L23P)

Ref Sequence

ENSEMBL: ENSMUSP00000025234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025234]

AlphaFold

P52963

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025234
AA Change: L23P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: L23P

Domain	Start	End	E-Value	Type
B41	7	211	3.32e-78	SMART
FERM_C	215	303	1.48e-28	SMART
FA	310	357	2.25e-10	SMART
low complexity region	468	494	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	589	606	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Sipa1	A	T	19: 5,651,671	S979T	probably benign	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Epb41l4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Epb41l4a	APN	18	33801625	missense	possibly damaging	0.95
IGL02942:Epb41l4a	APN	18	33874201	missense	probably damaging	1.00
IGL03051:Epb41l4a	APN	18	33874772	missense	probably damaging	1.00
IGL03236:Epb41l4a	APN	18	33810219	missense	probably damaging	0.98
PIT1430001:Epb41l4a	UTSW	18	33797347	missense	probably damaging	1.00
R0147:Epb41l4a	UTSW	18	33798800	missense	probably damaging	0.98
R0148:Epb41l4a	UTSW	18	33798800	missense	probably damaging	0.98
R0437:Epb41l4a	UTSW	18	33880273	missense	probably damaging	1.00
R1511:Epb41l4a	UTSW	18	33832664	missense	probably benign	0.01
R1666:Epb41l4a	UTSW	18	33921909	missense	probably damaging	1.00
R1668:Epb41l4a	UTSW	18	33921909	missense	probably damaging	1.00
R1750:Epb41l4a	UTSW	18	33828208	nonsense	probably null
R2022:Epb41l4a	UTSW	18	33921840	missense	probably benign	0.00
R2047:Epb41l4a	UTSW	18	33828206	missense	probably benign	0.00
R2133:Epb41l4a	UTSW	18	33874195	missense	probably damaging	1.00
R3741:Epb41l4a	UTSW	18	33828102	critical splice donor site	probably null
R4393:Epb41l4a	UTSW	18	33891420	splice site	probably null
R4700:Epb41l4a	UTSW	18	33802507	splice site	probably null
R4878:Epb41l4a	UTSW	18	33798572	missense	probably damaging	1.00
R5226:Epb41l4a	UTSW	18	33810313	missense	probably damaging	1.00
R5284:Epb41l4a	UTSW	18	33798800	missense	probably damaging	0.98
R5584:Epb41l4a	UTSW	18	33854271	missense	probably damaging	1.00
R5945:Epb41l4a	UTSW	18	33828730	missense	possibly damaging	0.89
R6005:Epb41l4a	UTSW	18	33828143	missense	probably benign
R6038:Epb41l4a	UTSW	18	33854335	missense	probably benign
R6038:Epb41l4a	UTSW	18	33854335	missense	probably benign
R6177:Epb41l4a	UTSW	18	33798815	splice site	probably null
R6188:Epb41l4a	UTSW	18	33832665	missense	probably benign
R6314:Epb41l4a	UTSW	18	33874155	missense	probably damaging	1.00
R6552:Epb41l4a	UTSW	18	33878979	missense	probably damaging	1.00
R7605:Epb41l4a	UTSW	18	33797451	missense	probably damaging	0.99
R7727:Epb41l4a	UTSW	18	33854273	missense	probably damaging	1.00
R7729:Epb41l4a	UTSW	18	33854273	missense	probably damaging	1.00
R7802:Epb41l4a	UTSW	18	33828174	missense	probably benign	0.19
R7857:Epb41l4a	UTSW	18	34006045	nonsense	probably null
R8281:Epb41l4a	UTSW	18	33878945	missense	probably damaging	1.00
R9029:Epb41l4a	UTSW	18	33878989	nonsense	probably null
R9135:Epb41l4a	UTSW	18	33832676	missense	probably benign	0.17
R9326:Epb41l4a	UTSW	18	33828208	nonsense	probably null
R9405:Epb41l4a	UTSW	18	33810218	critical splice donor site	probably null
R9555:Epb41l4a	UTSW	18	33876913	missense	not run
X0028:Epb41l4a	UTSW	18	33802537	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AACTCCAAGTTAGCGCAGCC -3'
(R):5'- TAGCCAGGCGACTCTTGTTG -3'

Sequencing Primer
(F):5'- GCAGCCCGACAGATCCTC -3'
(R):5'- ACCCCTGTCTCCAGAAGAGG -3'

Posted On

2019-11-12