Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Epb41l4b'

395754

Institutional Source

Beutler Lab

Gene Symbol

Epb41l4b

Ensembl Gene

ENSMUSG00000028434

Gene Name

erythrocyte membrane protein band 4.1 like 4b

Synonyms

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

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5076 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

56991972-57143437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57040984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 493 (G493D)

Ref Sequence

ENSEMBL: ENSMUSP00000092687 (fasta)

Gene Model

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

AlphaFold

Q9JMC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095076
AA Change: G493D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: G493D

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

Meta Mutation Damage Score

0.1491

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,681	F189S	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	probably damaging	Het

Other mutations in Epb41l4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Epb41l4b	APN	4	57103422	critical splice donor site	probably null
IGL02311:Epb41l4b	APN	4	57076456	missense	probably damaging	1.00
Episode	UTSW	4	57142866	missense	probably benign	0.00
R0456:Epb41l4b	UTSW	4	57142843	splice site	probably null
R0799:Epb41l4b	UTSW	4	57086003	missense	probably damaging	1.00
R0905:Epb41l4b	UTSW	4	57103528	missense	probably damaging	1.00
R1208:Epb41l4b	UTSW	4	57077252	critical splice acceptor site	probably null
R1208:Epb41l4b	UTSW	4	57077252	critical splice acceptor site	probably null
R1506:Epb41l4b	UTSW	4	57088824	missense	probably damaging	1.00
R1618:Epb41l4b	UTSW	4	57032204	missense	probably benign	0.00
R1919:Epb41l4b	UTSW	4	57040993	missense	probably damaging	0.99
R1956:Epb41l4b	UTSW	4	57038553	missense	possibly damaging	0.94
R2041:Epb41l4b	UTSW	4	57084070	missense	probably damaging	0.98
R2048:Epb41l4b	UTSW	4	57142866	missense	probably benign	0.00
R3434:Epb41l4b	UTSW	4	57040865	missense	probably benign	0.41
R4059:Epb41l4b	UTSW	4	57024337	critical splice donor site	probably null
R4175:Epb41l4b	UTSW	4	57076556	missense	probably damaging	1.00
R4694:Epb41l4b	UTSW	4	57019875	missense	probably benign	0.01
R4817:Epb41l4b	UTSW	4	57103428	missense	probably damaging	1.00
R5179:Epb41l4b	UTSW	4	57063181	missense	probably benign	0.01
R5246:Epb41l4b	UTSW	4	57040989	missense	probably damaging	0.99
R5530:Epb41l4b	UTSW	4	57086003	missense	probably damaging	1.00
R5579:Epb41l4b	UTSW	4	57064802	missense	possibly damaging	0.62
R5784:Epb41l4b	UTSW	4	57086003	missense	probably damaging	1.00
R6772:Epb41l4b	UTSW	4	57063140	missense	probably benign
R6965:Epb41l4b	UTSW	4	57040915	missense	probably damaging	1.00
R7045:Epb41l4b	UTSW	4	57103522	missense	possibly damaging	0.94
R7316:Epb41l4b	UTSW	4	57019867	missense	probably benign	0.01
R7750:Epb41l4b	UTSW	4	57076913	critical splice donor site	probably null
R7954:Epb41l4b	UTSW	4	57088034	missense	probably damaging	1.00
R9032:Epb41l4b	UTSW	4	57041064	splice site	probably null
R9085:Epb41l4b	UTSW	4	57041064	splice site	probably null
R9130:Epb41l4b	UTSW	4	57103447	missense	possibly damaging	0.82
R9386:Epb41l4b	UTSW	4	57076553	missense	probably damaging	1.00
Z1177:Epb41l4b	UTSW	4	57063191	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AATCCAGTAGCCATGGCAAC -3'
(R):5'- AGTGCCCTATTTTAAGAAGGGGTC -3'

Sequencing Primer
(F):5'- GTTCTTGACAGGCCCTCCG -3'
(R):5'- CCCTATTTTAAGAAGGGGTCTTTTG -3'

Posted On

2016-06-21