Mutagenetix > Incidental Mutation

Incidental Mutation 'R7729:Epb41l4a'

595740

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

045785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33929380-34140019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33987326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 350 (K350N)

Ref Sequence

ENSEMBL: ENSMUSP00000025234 (fasta)

Gene Model

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

AlphaFold

P52963

Predicted Effect

probably damaging
Transcript: ENSMUST00000025234
AA Change: K350N

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

SMART Domains

Protein: ENSMUSP00000025234
Gene: ENSMUSG00000024376
AA Change: K350N

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: 98.7%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	G	2: 127,028,710 (GRCm39)	D163A	possibly damaging	Het
Abce1	A	T	8: 80,414,537 (GRCm39)	I454N	probably damaging	Het
Acaca	A	G	11: 84,262,339 (GRCm39)	I1980M	probably damaging	Het
Adgrb2	C	T	4: 129,885,917 (GRCm39)	T19M	probably benign	Het
Agmo	T	A	12: 37,464,974 (GRCm39)	S417T	probably benign	Het
Akap8l	T	C	17: 32,552,068 (GRCm39)	E403G	probably damaging	Het
Art5	C	T	7: 101,747,711 (GRCm39)	A23T	possibly damaging	Het
Atg9a	T	C	1: 75,161,204 (GRCm39)	T681A	probably benign	Het
Atp11b	A	G	3: 35,832,256 (GRCm39)	Q37R	probably damaging	Het
Atp2a2	T	C	5: 122,629,829 (GRCm39)	E80G	probably benign	Het
AW551984	G	A	9: 39,511,071 (GRCm39)	P172L	possibly damaging	Het
Bace1	C	T	9: 45,769,743 (GRCm39)	R296C	probably damaging	Het
Ccser1	T	A	6: 61,288,840 (GRCm39)	H334Q	probably benign	Het
Chtf18	C	T	17: 25,942,491 (GRCm39)	R449H	probably damaging	Het
Cit	A	G	5: 116,122,881 (GRCm39)	H1384R	possibly damaging	Het
Cltc	A	G	11: 86,612,474 (GRCm39)	I524T	probably benign	Het
Dctn1	T	A	6: 83,160,042 (GRCm39)	I94N	probably damaging	Het
Dnhd1	A	T	7: 105,354,472 (GRCm39)	D3078V	probably damaging	Het
Dock7	G	A	4: 98,943,683 (GRCm39)	P520S		Het
Eprs1	T	A	1: 185,145,366 (GRCm39)	Y1130N	probably damaging	Het
Fcgrt	T	C	7: 44,744,797 (GRCm39)	T224A	probably damaging	Het
Flt1	T	A	5: 147,637,177 (GRCm39)	T39S	probably benign	Het
Fxyd1	T	C	7: 30,752,896 (GRCm39)	Y33C	probably damaging	Het
Gab2	T	A	7: 96,950,633 (GRCm39)	V442E	probably damaging	Het
Ganab	A	G	19: 8,892,076 (GRCm39)	D800G	probably benign	Het
Gata4	C	A	14: 63,478,186 (GRCm39)	A138S	probably benign	Het
Golga4	A	G	9: 118,385,131 (GRCm39)	H751R	possibly damaging	Het
H1f6	A	G	13: 23,880,455 (GRCm39)	R203G	possibly damaging	Het
Htra4	A	G	8: 25,527,093 (GRCm39)	V234A	possibly damaging	Het
Igkv4-74	A	T	6: 69,161,954 (GRCm39)	Y72N	probably damaging	Het
Iqsec3	T	C	6: 121,360,940 (GRCm39)	K973E	probably damaging	Het
Khdc1b	C	A	1: 21,455,065 (GRCm39)	T108K	probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,432,066 (GRCm39)		probably null	Het
Lrba	T	A	3: 86,225,474 (GRCm39)	V666E	probably damaging	Het
Mettl25	T	A	10: 105,601,871 (GRCm39)	Y528F	probably benign	Het
Mms19	A	T	19: 41,940,904 (GRCm39)	Y619*	probably null	Het
Nlrp12	A	C	7: 3,277,020 (GRCm39)		probably null	Het
Nol10	C	T	12: 17,474,676 (GRCm39)	L623F	possibly damaging	Het
Oas1g	A	G	5: 121,024,063 (GRCm39)	F82S	probably damaging	Het
Or1j8	T	G	2: 36,191,772 (GRCm39)	S74A	probably benign	Het
Or5k3	C	T	16: 58,969,570 (GRCm39)	A119V	probably damaging	Het
Or8g18	G	A	9: 39,149,546 (GRCm39)	P58L	probably benign	Het
Oxr1	G	A	15: 41,686,863 (GRCm39)	E582K	probably damaging	Het
Pdia3	A	G	2: 121,262,838 (GRCm39)	D268G	possibly damaging	Het
Pramel13	T	C	4: 144,119,434 (GRCm39)	S378G	probably damaging	Het
Rcor3	A	G	1: 191,786,078 (GRCm39)	Y387H	probably damaging	Het
Rigi	T	A	4: 40,206,034 (GRCm39)	I853F	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Rsl1	T	C	13: 67,330,284 (GRCm39)	L244P	possibly damaging	Het
Scn5a	G	T	9: 119,324,606 (GRCm39)	N1407K	probably damaging	Het
Sdcbp	C	T	4: 6,378,985 (GRCm39)	A24V	probably benign	Het
Slc22a8	A	G	19: 8,571,323 (GRCm39)	Y18C	possibly damaging	Het
Slc35d1	C	T	4: 103,072,044 (GRCm39)	R7H	probably damaging	Het
Slco6d1	A	T	1: 98,425,248 (GRCm39)	T599S	probably damaging	Het
Spata31d1e	C	T	13: 59,889,437 (GRCm39)	M794I	not run	Het
St18	T	A	1: 6,872,761 (GRCm39)	H165Q	probably benign	Het
Sub1	C	T	15: 11,986,589 (GRCm39)	R86K	probably damaging	Het
Tectb	G	A	19: 55,181,104 (GRCm39)	V148M		Het
Tgfb2	C	A	1: 186,362,954 (GRCm39)	G290V	possibly damaging	Het
Tgm7	T	C	2: 120,924,191 (GRCm39)	H577R	probably benign	Het
Tle2	T	C	10: 81,422,981 (GRCm39)	S460P	probably damaging	Het
Tmem221	C	A	8: 72,011,446 (GRCm39)	R3L	possibly damaging	Het
Tnfrsf19	C	A	14: 61,212,183 (GRCm39)	V156L	possibly damaging	Het
Trav6-5	A	G	14: 53,728,964 (GRCm39)	K75E	probably benign	Het
Trip10	G	A	17: 57,569,442 (GRCm39)	G488S	probably damaging	Het
Usp34	A	C	11: 23,399,268 (GRCm39)	K2419T		Het
Vps13d	T	C	4: 144,801,622 (GRCm39)	Q3532R		Het
Vps4a	A	T	8: 107,767,529 (GRCm39)	I163L	probably damaging	Het
Wrn	T	C	8: 33,814,454 (GRCm39)	H330R	probably benign	Het
Xpr1	T	C	1: 155,188,618 (GRCm39)	I341V	probably benign	Het
Zfyve9	T	C	4: 108,548,973 (GRCm39)	E105G	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
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
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'- ATTGCCATGTGTGTACCCTC -3'
(R):5'- AAGCCTGTATGGTTATGGCC -3'

Sequencing Primer
(F):5'- ACACATACAAACATGCGTATCACGTG -3'
(R):5'- GCAAATGAGCCGAGATCT -3'

Posted On

2019-11-12