Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Epb41l4a'

501837

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

044319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33929380-34140019 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 33931868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025234 (fasta)

Gene Model

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

AlphaFold

P52963

Predicted Effect

probably null
Transcript: ENSMUST00000025234

SMART Domains

Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179138

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,074,896 (GRCm39)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,652,316 (GRCm39)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ano1	T	A	7: 144,232,478 (GRCm39)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,469,987 (GRCm39)	D63E	possibly damaging	Het
Atp6v1c1	C	A	15: 38,674,172 (GRCm39)	S55*	probably null	Het
C1s2	T	G	6: 124,606,960 (GRCm39)	D296A	probably damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,202,186 (GRCm39)	V342M	possibly damaging	Het
Cat	T	C	2: 103,303,420 (GRCm39)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,328,654 (GRCm39)	S37I	probably damaging	Het
Cdhr18	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Cdk5rap2	G	A	4: 70,199,719 (GRCm39)	R802C	probably damaging	Het
Clip1	A	G	5: 123,751,897 (GRCm39)		probably benign	Het
Dhx57	T	C	17: 80,580,395 (GRCm39)	N519S	possibly damaging	Het
Dpep2	T	C	8: 106,712,831 (GRCm39)	D260G	probably damaging	Het
Edem1	T	A	6: 108,828,159 (GRCm39)		probably null	Het
Esp1	T	C	17: 41,039,723 (GRCm39)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,564,746 (GRCm39)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,059,031 (GRCm39)	T497A	probably benign	Het
Gstcd	T	C	3: 132,787,834 (GRCm39)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,310,118 (GRCm39)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,089 (GRCm39)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,771,055 (GRCm39)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,685,614 (GRCm39)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,013,748 (GRCm39)		probably null	Het
Lrp2	AC	A	2: 69,340,763 (GRCm39)		probably null	Het
Marveld2	C	T	13: 100,733,886 (GRCm39)	D250N	probably damaging	Het
Mast3	A	G	8: 71,242,662 (GRCm39)	S53P	probably damaging	Het
Ms4a20	A	G	19: 11,083,114 (GRCm39)	I102T	possibly damaging	Het
Myo3b	T	C	2: 70,143,707 (GRCm39)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,257,009 (GRCm39)	F113I	probably damaging	Het
Obscn	A	G	11: 58,923,490 (GRCm39)	S6470P	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a73	T	C	2: 89,420,661 (GRCm39)	D266G	possibly damaging	Het
Or9g4b	C	T	2: 85,616,004 (GRCm39)	R50C	probably damaging	Het
Pdcd11	G	T	19: 47,108,722 (GRCm39)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,996,714 (GRCm39)	S219T	probably damaging	Het
Plxnb1	C	T	9: 108,931,993 (GRCm39)		probably null	Het
Polh	T	C	17: 46,495,670 (GRCm39)	D276G	possibly damaging	Het
Polq	T	A	16: 36,892,071 (GRCm39)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,771,541 (GRCm39)	R144C	probably damaging	Het
Pramel16	G	A	4: 143,675,576 (GRCm39)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,207,001 (GRCm39)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,386,279 (GRCm39)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,520,836 (GRCm39)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,510,842 (GRCm39)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,279,658 (GRCm39)	V524I	probably benign	Het
Sde2	T	C	1: 180,685,784 (GRCm39)	V112A	probably damaging	Het
Septin7	T	C	9: 25,205,100 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,727,618 (GRCm39)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,333 (GRCm39)		probably null	Het
Tmcc3	A	T	10: 94,418,249 (GRCm39)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,792,083 (GRCm39)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,624 (GRCm39)		probably benign	Het
Trim43c	T	C	9: 88,722,600 (GRCm39)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,945,466 (GRCm39)	D237G	probably benign	Het
Vmn1r91	T	A	7: 19,835,404 (GRCm39)	C108S	possibly damaging	Het
Vtn	A	T	11: 78,390,836 (GRCm39)	D165V	probably damaging	Het
Wdr3	A	T	3: 100,068,468 (GRCm39)	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,926,198 (GRCm39)	Y31C	probably benign	Het
Zfp39	A	T	11: 58,781,887 (GRCm39)	W292R	probably benign	Het
Zfp612	A	T	8: 110,816,606 (GRCm39)	L604F	probably damaging	Het

Other mutations in Epb41l4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Epb41l4a	APN	18	33,934,678 (GRCm39)	missense	possibly damaging	0.95
IGL02942:Epb41l4a	APN	18	34,007,254 (GRCm39)	missense	probably damaging	1.00
IGL03051:Epb41l4a	APN	18	34,007,825 (GRCm39)	missense	probably damaging	1.00
IGL03236:Epb41l4a	APN	18	33,943,272 (GRCm39)	missense	probably damaging	0.98
PIT1430001:Epb41l4a	UTSW	18	33,930,400 (GRCm39)	missense	probably damaging	1.00
R0147:Epb41l4a	UTSW	18	33,931,853 (GRCm39)	missense	probably damaging	0.98
R0148:Epb41l4a	UTSW	18	33,931,853 (GRCm39)	missense	probably damaging	0.98
R0437:Epb41l4a	UTSW	18	34,013,326 (GRCm39)	missense	probably damaging	1.00
R1511:Epb41l4a	UTSW	18	33,965,717 (GRCm39)	missense	probably benign	0.01
R1666:Epb41l4a	UTSW	18	34,054,962 (GRCm39)	missense	probably damaging	1.00
R1668:Epb41l4a	UTSW	18	34,054,962 (GRCm39)	missense	probably damaging	1.00
R1750:Epb41l4a	UTSW	18	33,961,261 (GRCm39)	nonsense	probably null
R2022:Epb41l4a	UTSW	18	34,054,893 (GRCm39)	missense	probably benign	0.00
R2047:Epb41l4a	UTSW	18	33,961,259 (GRCm39)	missense	probably benign	0.00
R2133:Epb41l4a	UTSW	18	34,007,248 (GRCm39)	missense	probably damaging	1.00
R3741:Epb41l4a	UTSW	18	33,961,155 (GRCm39)	critical splice donor site	probably null
R4393:Epb41l4a	UTSW	18	34,024,473 (GRCm39)	splice site	probably null
R4700:Epb41l4a	UTSW	18	33,935,560 (GRCm39)	splice site	probably null
R4878:Epb41l4a	UTSW	18	33,931,625 (GRCm39)	missense	probably damaging	1.00
R5226:Epb41l4a	UTSW	18	33,943,366 (GRCm39)	missense	probably damaging	1.00
R5284:Epb41l4a	UTSW	18	33,931,853 (GRCm39)	missense	probably damaging	0.98
R5584:Epb41l4a	UTSW	18	33,987,324 (GRCm39)	missense	probably damaging	1.00
R5945:Epb41l4a	UTSW	18	33,961,783 (GRCm39)	missense	possibly damaging	0.89
R6005:Epb41l4a	UTSW	18	33,961,196 (GRCm39)	missense	probably benign
R6038:Epb41l4a	UTSW	18	33,987,388 (GRCm39)	missense	probably benign
R6038:Epb41l4a	UTSW	18	33,987,388 (GRCm39)	missense	probably benign
R6188:Epb41l4a	UTSW	18	33,965,718 (GRCm39)	missense	probably benign
R6314:Epb41l4a	UTSW	18	34,007,208 (GRCm39)	missense	probably damaging	1.00
R6552:Epb41l4a	UTSW	18	34,012,032 (GRCm39)	missense	probably damaging	1.00
R7605:Epb41l4a	UTSW	18	33,930,504 (GRCm39)	missense	probably damaging	0.99
R7665:Epb41l4a	UTSW	18	34,139,069 (GRCm39)	missense	possibly damaging	0.92
R7727:Epb41l4a	UTSW	18	33,987,326 (GRCm39)	missense	probably damaging	1.00
R7729:Epb41l4a	UTSW	18	33,987,326 (GRCm39)	missense	probably damaging	1.00
R7802:Epb41l4a	UTSW	18	33,961,227 (GRCm39)	missense	probably benign	0.19
R7857:Epb41l4a	UTSW	18	34,139,098 (GRCm39)	nonsense	probably null
R8281:Epb41l4a	UTSW	18	34,011,998 (GRCm39)	missense	probably damaging	1.00
R9029:Epb41l4a	UTSW	18	34,012,042 (GRCm39)	nonsense	probably null
R9135:Epb41l4a	UTSW	18	33,965,729 (GRCm39)	missense	probably benign	0.17
R9326:Epb41l4a	UTSW	18	33,961,261 (GRCm39)	nonsense	probably null
R9405:Epb41l4a	UTSW	18	33,943,271 (GRCm39)	critical splice donor site	probably null
R9555:Epb41l4a	UTSW	18	34,009,966 (GRCm39)	missense	possibly damaging	0.90
X0028:Epb41l4a	UTSW	18	33,935,590 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AAGACAGAACTCAGGTCTTATGC -3'
(R):5'- GCTGTGAAATTTACTGCTTTCAGAG -3'

Sequencing Primer
(F):5'- AGAACTCAGGTCTTATGCGCCTC -3'
(R):5'- GCGGAGGAACATGCTTTTAATTCAG -3'

Posted On

2017-12-04