Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Epb41l4a'

486717

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

044208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33929380-34140019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33987388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 330 (S330G)

Ref Sequence

ENSEMBL: ENSMUSP00000025234 (fasta)

Gene Model

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

AlphaFold

P52963

Predicted Effect

probably benign
Transcript: ENSMUST00000025234
AA Change: S330G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: S330G

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

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Akirin1	A	G	4: 123,643,956 (GRCm39)	M1T	probably null	Het
Antxr1	C	A	6: 87,263,982 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gm29587	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Larp1	A	G	11: 57,932,431 (GRCm39)	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Nrm	T	C	17: 36,172,397 (GRCm39)	S41P	possibly damaging	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,913,095 (GRCm39)		probably null	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Tas2r114	A	T	6: 131,666,444 (GRCm39)	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	probably benign	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
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
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'- TTCAGTCACCACCTGAACGC -3'
(R):5'- AGTTTAGTGCCGCCTTCTTG -3'

Sequencing Primer
(F):5'- GTCACCACCTGAACGCACTTC -3'
(R):5'- TGGCCATCTGGTTCTACT -3'

Posted On

2017-08-16