Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Epb41l4b'

541933

Institutional Source

Beutler Lab

Gene Symbol

Epb41l4b

Ensembl Gene

ENSMUSG00000028434

Gene Name

erythrocyte membrane protein band 4.1 like 4b

Synonyms

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

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56991972-57143437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57040915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 516 (Y516C)

Ref Sequence

ENSEMBL: ENSMUSP00000092687 (fasta)

Gene Model

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

AlphaFold

Q9JMC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095076
AA Change: Y516C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: Y516C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Bpifa1	G	A	2: 153,987,581 (GRCm39)	G144S	probably damaging	Het
Brf2	A	T	8: 27,614,586 (GRCm39)	M200K	probably benign	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Esr2	T	C	12: 76,168,631 (GRCm39)	D526G	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,300,305 (GRCm39)	C156R	probably damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Lta4h	G	T	10: 93,307,759 (GRCm39)	G331*	probably null	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	possibly damaging	Het

Other mutations in Epb41l4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Epb41l4b	APN	4	57,103,422 (GRCm39)	critical splice donor site	probably null
IGL02311:Epb41l4b	APN	4	57,076,456 (GRCm39)	missense	probably damaging	1.00
Episode	UTSW	4	57,142,866 (GRCm39)	missense	probably benign	0.00
R0456:Epb41l4b	UTSW	4	57,142,843 (GRCm39)	splice site	probably null
R0799:Epb41l4b	UTSW	4	57,086,003 (GRCm39)	missense	probably damaging	1.00
R0905:Epb41l4b	UTSW	4	57,103,528 (GRCm39)	missense	probably damaging	1.00
R1208:Epb41l4b	UTSW	4	57,077,252 (GRCm39)	critical splice acceptor site	probably null
R1208:Epb41l4b	UTSW	4	57,077,252 (GRCm39)	critical splice acceptor site	probably null
R1506:Epb41l4b	UTSW	4	57,088,824 (GRCm39)	missense	probably damaging	1.00
R1618:Epb41l4b	UTSW	4	57,032,204 (GRCm39)	missense	probably benign	0.00
R1919:Epb41l4b	UTSW	4	57,040,993 (GRCm39)	missense	probably damaging	0.99
R1956:Epb41l4b	UTSW	4	57,038,553 (GRCm39)	missense	possibly damaging	0.94
R2041:Epb41l4b	UTSW	4	57,084,070 (GRCm39)	missense	probably damaging	0.98
R2048:Epb41l4b	UTSW	4	57,142,866 (GRCm39)	missense	probably benign	0.00
R3434:Epb41l4b	UTSW	4	57,040,865 (GRCm39)	missense	probably benign	0.41
R4059:Epb41l4b	UTSW	4	57,024,337 (GRCm39)	critical splice donor site	probably null
R4175:Epb41l4b	UTSW	4	57,076,556 (GRCm39)	missense	probably damaging	1.00
R4694:Epb41l4b	UTSW	4	57,019,875 (GRCm39)	missense	probably benign	0.01
R4817:Epb41l4b	UTSW	4	57,103,428 (GRCm39)	missense	probably damaging	1.00
R5076:Epb41l4b	UTSW	4	57,040,984 (GRCm39)	missense	probably damaging	1.00
R5179:Epb41l4b	UTSW	4	57,063,181 (GRCm39)	missense	probably benign	0.01
R5246:Epb41l4b	UTSW	4	57,040,989 (GRCm39)	missense	probably damaging	0.99
R5530:Epb41l4b	UTSW	4	57,086,003 (GRCm39)	missense	probably damaging	1.00
R5579:Epb41l4b	UTSW	4	57,064,802 (GRCm39)	missense	possibly damaging	0.62
R5784:Epb41l4b	UTSW	4	57,086,003 (GRCm39)	missense	probably damaging	1.00
R6772:Epb41l4b	UTSW	4	57,063,140 (GRCm39)	missense	probably benign
R7045:Epb41l4b	UTSW	4	57,103,522 (GRCm39)	missense	possibly damaging	0.94
R7316:Epb41l4b	UTSW	4	57,019,867 (GRCm39)	missense	probably benign	0.01
R7750:Epb41l4b	UTSW	4	57,076,913 (GRCm39)	critical splice donor site	probably null
R7954:Epb41l4b	UTSW	4	57,088,034 (GRCm39)	missense	probably damaging	1.00
R9032:Epb41l4b	UTSW	4	57,041,064 (GRCm39)	splice site	probably null
R9085:Epb41l4b	UTSW	4	57,041,064 (GRCm39)	splice site	probably null
R9130:Epb41l4b	UTSW	4	57,103,447 (GRCm39)	missense	possibly damaging	0.82
R9386:Epb41l4b	UTSW	4	57,076,553 (GRCm39)	missense	probably damaging	1.00
Z1177:Epb41l4b	UTSW	4	57,063,191 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGTCTAGATCACCTTGCC -3'
(R):5'- TTGAGAGGTTAGCAGAACGTTG -3'

Sequencing Primer
(F):5'- GAGTCTAGATCACCTTGCCTCCAG -3'
(R):5'- ACGTTGTGTTGTTCTAAATCCTGAC -3'

Posted On

2018-11-28