Mutagenetix > Incidental Mutation

Incidental Mutation 'R1506:Epb41l4b'

167921

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

039554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56991972-57143437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57088824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 144 (K144N)

Ref Sequence

ENSEMBL: ENSMUSP00000092687 (fasta)

Gene Model

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

AlphaFold

Q9JMC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030142
AA Change: K144N

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

SMART Domains

Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: K144N

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 damaging
Transcript: ENSMUST00000095076
AA Change: K144N

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

SMART Domains

Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: K144N

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

Meta Mutation Damage Score

0.3174

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	T	11: 94,248,144 (GRCm39)	T1152K	possibly damaging	Het
Acp3	T	A	9: 104,201,373 (GRCm39)	T82S	probably damaging	Het
Adam23	C	T	1: 63,586,973 (GRCm39)	P445S	probably benign	Het
Ap3b1	T	A	13: 94,582,651 (GRCm39)		probably benign	Het
Artn	A	G	4: 117,784,058 (GRCm39)	V136A	probably damaging	Het
Ash1l	A	G	3: 88,965,806 (GRCm39)	T2403A	probably damaging	Het
Bbof1	G	T	12: 84,470,273 (GRCm39)	V120L	probably damaging	Het
Boc	A	G	16: 44,323,928 (GRCm39)	Y158H	probably damaging	Het
Casp8	A	G	1: 58,863,355 (GRCm39)	E105G	probably damaging	Het
Cers4	T	C	8: 4,570,557 (GRCm39)	F206L	probably benign	Het
Chrna9	A	G	5: 66,126,479 (GRCm39)	T78A	probably benign	Het
Creb3	A	T	4: 43,566,193 (GRCm39)	T263S	possibly damaging	Het
Cyp2c40	A	G	19: 39,766,443 (GRCm39)	V384A	probably damaging	Het
Dip2b	G	A	15: 100,080,994 (GRCm39)	V879M	probably damaging	Het
Dnah17	C	A	11: 118,016,213 (GRCm39)	V14F	possibly damaging	Het
Ercc6	A	T	14: 32,291,821 (GRCm39)	I1062F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	C	A	11: 55,175,090 (GRCm39)	E1874D	probably benign	Het
Fbxw21	T	A	9: 108,977,257 (GRCm39)	I151F	probably damaging	Het
Fhip2a	A	G	19: 57,357,007 (GRCm39)	I33V	probably benign	Het
Foxn1	A	G	11: 78,256,761 (GRCm39)		probably benign	Het
Gpr63	G	A	4: 25,008,227 (GRCm39)	R317H	probably damaging	Het
Grip1	C	A	10: 119,814,356 (GRCm39)	H296N	probably damaging	Het
Gtdc1	A	T	2: 44,465,506 (GRCm39)	M288K	possibly damaging	Het
Guf1	T	A	5: 69,724,509 (GRCm39)	D488E	possibly damaging	Het
Gvin3	C	T	7: 106,200,788 (GRCm39)	D819N	probably benign	Het
Heatr5b	C	A	17: 79,060,576 (GRCm39)	R2033L	probably damaging	Het
Hsd17b2	T	A	8: 118,429,004 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,255,746 (GRCm39)	L913*	probably null	Het
Inppl1	A	C	7: 101,473,174 (GRCm39)	S1159A	probably benign	Het
Kcnk7	G	A	19: 5,756,140 (GRCm39)	C122Y	probably damaging	Het
Mtor	A	G	4: 148,620,962 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,574,033 (GRCm39)	S704C	possibly damaging	Het
Nckap5	A	T	1: 125,953,650 (GRCm39)	C967*	probably null	Het
Nek10	T	C	14: 14,999,078 (GRCm38)		probably benign	Het
Oas1h	A	T	5: 121,009,951 (GRCm39)	D342V	possibly damaging	Het
Or10j2	A	G	1: 173,098,336 (GRCm39)	N198S	probably benign	Het
Or2ak7	T	A	11: 58,575,014 (GRCm39)	L105Q	probably benign	Het
Or2n1	A	T	17: 38,486,091 (GRCm39)	M39L	probably benign	Het
Or4m1	A	G	14: 50,557,941 (GRCm39)	V117A	probably benign	Het
Or8b1b	T	C	9: 38,375,439 (GRCm39)	M34T	probably benign	Het
Prex1	A	T	2: 166,429,001 (GRCm39)	V694E	probably damaging	Het
Rad50	G	A	11: 53,570,312 (GRCm39)	A810V	probably damaging	Het
Rcor1	T	C	12: 111,076,271 (GRCm39)	S410P	probably damaging	Het
Rps14	A	T	18: 60,909,551 (GRCm39)	N26I	probably benign	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc5a1	T	A	5: 33,312,052 (GRCm39)	N481K	possibly damaging	Het
Slco3a1	A	T	7: 74,009,683 (GRCm39)		probably null	Het
Spart	T	C	3: 55,024,992 (GRCm39)	S196P	probably damaging	Het
Speg	A	G	1: 75,394,307 (GRCm39)	T1701A	probably benign	Het
Sugt1	A	G	14: 79,862,365 (GRCm39)	N271S	probably benign	Het
Tbx15	A	T	3: 99,259,228 (GRCm39)	L366F	possibly damaging	Het
Tnc	G	A	4: 63,925,921 (GRCm39)	T953I	possibly damaging	Het
Uqcc1	A	G	2: 155,753,738 (GRCm39)	S46P	probably damaging	Het
Vmn2r18	T	C	5: 151,499,099 (GRCm39)		probably null	Het
Vmn2r7	T	A	3: 64,614,500 (GRCm39)	Y438F	probably benign	Het
Vmn2r72	T	A	7: 85,398,419 (GRCm39)	K520N	probably benign	Het
Vps52	T	C	17: 34,176,868 (GRCm39)	L74P	probably damaging	Het
Xpo5	G	T	17: 46,538,814 (GRCm39)	M673I	probably benign	Het
Zscan18	A	G	7: 12,508,129 (GRCm39)	V457A	probably 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
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
R6965:Epb41l4b	UTSW	4	57,040,915 (GRCm39)	missense	probably damaging	1.00
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'- GGGCGACAGCTTTCTGAATAGAACA -3'
(R):5'- gccTGAGCAACGGAGTTTTCAGTA -3'

Sequencing Primer
(F):5'- AGTCAGCTCTCATTGGCAG -3'
(R):5'- CGGAGTTTTCAGTATCATACTTAGC -3'

Posted On

2014-04-13