Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Epb41l4b'

281578

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epb41l4b

Ensembl Gene

ENSMUSG00000028434

Gene Name

erythrocyte membrane protein band 4.1 like 4b

Synonyms

6430543G08Rik, D4Ertd346e, Lulu2, Epb4.1l4b, Ehm2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

56991972-57143437 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 57103422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030142] [ENSMUST00000095076]

AlphaFold

Q9JMC8

Predicted Effect

probably null
Transcript: ENSMUST00000030142

SMART Domains

Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434

Domain	Start	End	E-Value	Type
low complexity region	18	57	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
B41	81	277	4.09e-69	SMART
FERM_C	281	373	1.76e-35	SMART
FA	378	422	2.86e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000095076

SMART Domains

Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434

Domain	Start	End	E-Value	Type
low complexity region	18	57	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
B41	81	277	4.09e-69	SMART
FERM_C	281	373	1.76e-35	SMART
FA	378	422	2.86e-12	SMART
low complexity region	504	513	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136337

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149109

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably damaging	Het

Other mutations in Epb41l4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02311:Epb41l4b	APN	4	57,076,456 (GRCm38)	missense	probably damaging	1.00
Episode	UTSW	4	57,142,866 (GRCm38)	missense	probably benign	0.00
R0456:Epb41l4b	UTSW	4	57,142,843 (GRCm38)	splice site	probably null
R0799:Epb41l4b	UTSW	4	57,086,003 (GRCm38)	missense	probably damaging	1.00
R0905:Epb41l4b	UTSW	4	57,103,528 (GRCm38)	missense	probably damaging	1.00
R1208:Epb41l4b	UTSW	4	57,077,252 (GRCm38)	critical splice acceptor site	probably null
R1208:Epb41l4b	UTSW	4	57,077,252 (GRCm38)	critical splice acceptor site	probably null
R1506:Epb41l4b	UTSW	4	57,088,824 (GRCm38)	missense	probably damaging	1.00
R1618:Epb41l4b	UTSW	4	57,032,204 (GRCm38)	missense	probably benign	0.00
R1919:Epb41l4b	UTSW	4	57,040,993 (GRCm38)	missense	probably damaging	0.99
R1956:Epb41l4b	UTSW	4	57,038,553 (GRCm38)	missense	possibly damaging	0.94
R2041:Epb41l4b	UTSW	4	57,084,070 (GRCm38)	missense	probably damaging	0.98
R2048:Epb41l4b	UTSW	4	57,142,866 (GRCm38)	missense	probably benign	0.00
R3434:Epb41l4b	UTSW	4	57,040,865 (GRCm38)	missense	probably benign	0.41
R4059:Epb41l4b	UTSW	4	57,024,337 (GRCm38)	critical splice donor site	probably null
R4175:Epb41l4b	UTSW	4	57,076,556 (GRCm38)	missense	probably damaging	1.00
R4694:Epb41l4b	UTSW	4	57,019,875 (GRCm38)	missense	probably benign	0.01
R4817:Epb41l4b	UTSW	4	57,103,428 (GRCm38)	missense	probably damaging	1.00
R5076:Epb41l4b	UTSW	4	57,040,984 (GRCm38)	missense	probably damaging	1.00
R5179:Epb41l4b	UTSW	4	57,063,181 (GRCm38)	missense	probably benign	0.01
R5246:Epb41l4b	UTSW	4	57,040,989 (GRCm38)	missense	probably damaging	0.99
R5530:Epb41l4b	UTSW	4	57,086,003 (GRCm38)	missense	probably damaging	1.00
R5579:Epb41l4b	UTSW	4	57,064,802 (GRCm38)	missense	possibly damaging	0.62
R5784:Epb41l4b	UTSW	4	57,086,003 (GRCm38)	missense	probably damaging	1.00
R6772:Epb41l4b	UTSW	4	57,063,140 (GRCm38)	missense	probably benign
R6965:Epb41l4b	UTSW	4	57,040,915 (GRCm38)	missense	probably damaging	1.00
R7045:Epb41l4b	UTSW	4	57,103,522 (GRCm38)	missense	possibly damaging	0.94
R7316:Epb41l4b	UTSW	4	57,019,867 (GRCm38)	missense	probably benign	0.01
R7750:Epb41l4b	UTSW	4	57,076,913 (GRCm38)	critical splice donor site	probably null
R7954:Epb41l4b	UTSW	4	57,088,034 (GRCm38)	missense	probably damaging	1.00
R9032:Epb41l4b	UTSW	4	57,041,064 (GRCm38)	splice site	probably null
R9085:Epb41l4b	UTSW	4	57,041,064 (GRCm38)	splice site	probably null
R9130:Epb41l4b	UTSW	4	57,103,447 (GRCm38)	missense	possibly damaging	0.82
R9386:Epb41l4b	UTSW	4	57,076,553 (GRCm38)	missense	probably damaging	1.00
Z1177:Epb41l4b	UTSW	4	57,063,191 (GRCm38)	missense	probably benign	0.00

Posted On

2015-04-16