Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Epb41l4a'

706551

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33929380-34140019 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 33961261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 424 (Y424*)

Ref Sequence

ENSEMBL: ENSMUSP00000025234 (fasta)

Gene Model

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

AlphaFold

P52963

Predicted Effect

probably null
Transcript: ENSMUST00000025234
AA Change: Y424*

SMART Domains

Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: Y424*

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Exog	A	G	9: 119,291,554 (GRCm39)	N277S	probably damaging	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or5aq1	T	C	2: 86,966,647 (GRCm39)	H6R	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Sybu	A	G	15: 44,537,019 (GRCm39)	S436P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	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
R6177:Epb41l4a	UTSW	18	33,931,868 (GRCm39)	splice site	probably null
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
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'- TAAAACCGCATGGCCAGGAC -3'
(R):5'- TGCCTTTTAGTGTGACAGAAAGG -3'

Sequencing Primer
(F):5'- CAGGACAGGAAGCTTCTGGTC -3'
(R):5'- AGAGCAGTGGTTTCAGCC -3'

Posted On

2022-04-18