Mutagenetix > Incidental Mutation

Incidental Mutation 'R2138:Epb41l3'

236006

Institutional Source

Beutler Lab

Gene Symbol

Epb41l3

Ensembl Gene

ENSMUSG00000024044

Gene Name

erythrocyte membrane protein band 4.1 like 3

Synonyms

4.1B, NBL3, Epb4.1l3, DAL1P

MMRRC Submission

040141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2138 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69382678-69596984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69514875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 4 (E4G)

Ref Sequence

ENSEMBL: ENSMUSP00000153228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080208] [ENSMUST00000112680] [ENSMUST00000223610] [ENSMUST00000225062] [ENSMUST00000225740] [ENSMUST00000225977]

AlphaFold

Q9WV92

Predicted Effect

probably damaging
Transcript: ENSMUST00000080208
AA Change: E4G

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

SMART Domains

Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: E4G

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
B41	114	309	1.13e-80	SMART
FERM_C	313	403	3.96e-38	SMART
FA	405	451	2.34e-17	SMART
low complexity region	497	517	N/A	INTRINSIC
Pfam:SAB	556	604	2.1e-29	PFAM
low complexity region	789	802	N/A	INTRINSIC
Pfam:4_1_CTD	809	922	1.9e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112680
AA Change: E4G

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

SMART Domains

Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: E4G

Domain	Start	End	E-Value	Type
low complexity region	15	40	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC
B41	114	309	1.13e-80	SMART
FERM_C	313	403	3.96e-38	SMART
FA	405	451	2.34e-17	SMART
low complexity region	497	517	N/A	INTRINSIC
Pfam:SAB	566	614	3.2e-28	PFAM
low complexity region	799	812	N/A	INTRINSIC
Pfam:4_1_CTD	825	931	2.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223610

Predicted Effect

probably benign
Transcript: ENSMUST00000225062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225316

Predicted Effect

probably damaging
Transcript: ENSMUST00000225740
AA Change: E4G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000225977
AA Change: E4G

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,122 (GRCm39)	V6A	probably benign	Het
Abcc6	A	G	7: 45,630,475 (GRCm39)	F1262L	probably damaging	Het
Acot13	A	T	13: 25,002,188 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,593,439 (GRCm39)	I4183V	probably benign	Het
Aff4	T	G	11: 53,263,339 (GRCm39)	S120A	possibly damaging	Het
Afp	A	G	5: 90,647,506 (GRCm39)	E250G	probably damaging	Het
Ankrd34b	A	T	13: 92,575,914 (GRCm39)	D382V	probably damaging	Het
Arhgef19	A	T	4: 140,978,111 (GRCm39)	I577F	probably damaging	Het
Arl6	A	G	16: 59,442,830 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,773,268 (GRCm39)	M333K	probably benign	Het
Atp8b3	C	A	10: 80,362,939 (GRCm39)	A635S	possibly damaging	Het
Baiap2	A	G	11: 119,847,928 (GRCm39)	T19A	possibly damaging	Het
Bcar3	A	G	3: 122,306,645 (GRCm39)	D206G	probably damaging	Het
Ccdc162	A	T	10: 41,457,293 (GRCm39)	M85K	probably benign	Het
Clec4a4	A	G	6: 123,000,937 (GRCm39)	N217D	probably damaging	Het
Csmd1	T	C	8: 15,979,088 (GRCm39)	Y2832C	probably damaging	Het
Cubn	A	G	2: 13,449,189 (GRCm39)	I962T	probably damaging	Het
Dennd4a	A	G	9: 64,796,619 (GRCm39)	Y852C	probably damaging	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dusp12	G	A	1: 170,708,166 (GRCm39)	Q114*	probably null	Het
Elfn2	G	T	15: 78,558,238 (GRCm39)	T103K	probably benign	Het
Eme1	A	T	11: 94,539,018 (GRCm39)	V314E	probably damaging	Het
Exoc6b	A	T	6: 84,966,464 (GRCm39)	L170Q	probably damaging	Het
Fbln5	C	T	12: 101,728,179 (GRCm39)	M261I	probably benign	Het
Fgf22	T	C	10: 79,592,435 (GRCm39)	V64A	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gatad2b	T	A	3: 90,259,420 (GRCm39)	S401R	probably damaging	Het
Gen1	A	T	12: 11,291,622 (GRCm39)	S722R	probably damaging	Het
Gm10754	A	T	10: 97,518,132 (GRCm39)		probably benign	Het
Grid2	G	A	6: 64,322,782 (GRCm39)	R594Q	probably damaging	Het
Grm7	C	A	6: 110,623,098 (GRCm39)	N90K	probably damaging	Het
Herc1	G	A	9: 66,377,589 (GRCm39)	V3452M	possibly damaging	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Klra3	A	T	6: 130,310,121 (GRCm39)	V133D	probably benign	Het
Lims2	A	G	18: 32,088,460 (GRCm39)	E220G	possibly damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mbl1	T	A	14: 40,875,648 (GRCm39)	I34K	possibly damaging	Het
Mgam	C	T	6: 40,733,384 (GRCm39)	P839S	probably damaging	Het
Mmp9	G	T	2: 164,794,387 (GRCm39)	E460*	probably null	Het
Mov10	T	C	3: 104,711,558 (GRCm39)	H316R	probably benign	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Myo15b	T	C	11: 115,774,633 (GRCm39)	S2082P	probably benign	Het
Myrfl	G	A	10: 116,631,443 (GRCm39)	T706I	probably benign	Het
Nampt	C	A	12: 32,888,421 (GRCm39)	H191N	possibly damaging	Het
Niban1	G	A	1: 151,572,002 (GRCm39)	V316M	probably damaging	Het
Nphp3	A	G	9: 103,903,102 (GRCm39)	E693G	possibly damaging	Het
Obscn	A	T	11: 58,894,491 (GRCm39)	Y1191*	probably null	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or1r1	A	T	11: 73,875,129 (GRCm39)	Y102N	probably damaging	Het
Or7a40	A	G	16: 16,491,069 (GRCm39)	Y259H	probably damaging	Het
Osbpl10	A	G	9: 115,061,202 (GRCm39)	N760S	probably benign	Het
Otof	A	G	5: 30,619,114 (GRCm39)	V10A	probably benign	Het
Pkhd1l1	A	C	15: 44,364,853 (GRCm39)	E664A	probably damaging	Het
Pnp2	T	C	14: 51,201,161 (GRCm39)	S178P	probably damaging	Het
Pvr	G	A	7: 19,650,927 (GRCm39)	T199I	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnaseh2b	T	C	14: 62,598,794 (GRCm39)	V173A	probably benign	Het
Septin12	C	T	16: 4,810,070 (GRCm39)	R155H	probably damaging	Het
Slco6d1	G	T	1: 98,371,385 (GRCm39)	R290L	probably benign	Het
Snx32	A	G	19: 5,546,157 (GRCm39)	V335A	probably damaging	Het
Son	T	C	16: 91,456,260 (GRCm39)	V1669A	possibly damaging	Het
Speer1f	A	T	5: 11,469,052 (GRCm39)	R68*	probably null	Het
Tbata	C	T	10: 61,015,063 (GRCm39)	T116I	probably benign	Het
Tdrd1	T	A	19: 56,831,021 (GRCm39)	S279T	probably benign	Het
Thsd7a	A	T	6: 12,471,072 (GRCm39)	Y515*	probably null	Het
Tmem102	T	G	11: 69,695,940 (GRCm39)	L40F	probably damaging	Het
Tmem169	A	G	1: 72,340,155 (GRCm39)	N195S	probably damaging	Het
Tmem201	A	T	4: 149,802,537 (GRCm39)	S613T	probably damaging	Het
Tnfaip6	A	T	2: 51,942,344 (GRCm39)	I218F	possibly damaging	Het
Tube1	C	A	10: 39,023,347 (GRCm39)	H331Q	probably benign	Het
Wwc1	G	A	11: 35,732,714 (GRCm39)	T998I	possibly damaging	Het
Xpc	A	T	6: 91,475,104 (GRCm39)	Y638*	probably null	Het
Zdhhc4	A	T	5: 143,310,017 (GRCm39)	Y80*	probably null	Het

Other mutations in Epb41l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Epb41l3	APN	17	69,514,856 (GRCm39)	splice site	probably benign
IGL01099:Epb41l3	APN	17	69,517,188 (GRCm39)	missense	possibly damaging	0.80
IGL01578:Epb41l3	APN	17	69,555,704 (GRCm39)	missense	probably damaging	1.00
IGL02269:Epb41l3	APN	17	69,554,568 (GRCm39)	missense	probably damaging	1.00
IGL02926:Epb41l3	APN	17	69,554,741 (GRCm39)	missense	probably damaging	1.00
IGL03397:Epb41l3	APN	17	69,555,687 (GRCm39)	missense	probably damaging	1.00
E0370:Epb41l3	UTSW	17	69,581,799 (GRCm39)	missense	possibly damaging	0.73
P0031:Epb41l3	UTSW	17	69,566,049 (GRCm39)	nonsense	probably null
R0032:Epb41l3	UTSW	17	69,517,379 (GRCm39)	critical splice donor site	probably null
R0056:Epb41l3	UTSW	17	69,560,392 (GRCm39)	missense	probably damaging	1.00
R0092:Epb41l3	UTSW	17	69,593,745 (GRCm39)	missense	probably damaging	1.00
R0499:Epb41l3	UTSW	17	69,554,654 (GRCm39)	missense	probably benign	0.00
R0560:Epb41l3	UTSW	17	69,581,892 (GRCm39)	critical splice donor site	probably null
R1164:Epb41l3	UTSW	17	69,581,762 (GRCm39)	missense	possibly damaging	0.93
R1170:Epb41l3	UTSW	17	69,566,175 (GRCm39)	nonsense	probably null
R1397:Epb41l3	UTSW	17	69,569,343 (GRCm39)	critical splice donor site	probably null
R2080:Epb41l3	UTSW	17	69,560,463 (GRCm39)	missense	possibly damaging	0.54
R2279:Epb41l3	UTSW	17	69,577,645 (GRCm39)	missense	possibly damaging	0.56
R2863:Epb41l3	UTSW	17	69,517,316 (GRCm39)	missense	probably benign	0.22
R3883:Epb41l3	UTSW	17	69,581,111 (GRCm39)	nonsense	probably null
R3884:Epb41l3	UTSW	17	69,581,111 (GRCm39)	nonsense	probably null
R4165:Epb41l3	UTSW	17	69,514,883 (GRCm39)	missense	probably damaging	1.00
R4795:Epb41l3	UTSW	17	69,555,714 (GRCm39)	critical splice donor site	probably null
R5286:Epb41l3	UTSW	17	69,569,268 (GRCm39)	missense	probably benign	0.00
R5303:Epb41l3	UTSW	17	69,564,444 (GRCm39)	missense	probably damaging	1.00
R5373:Epb41l3	UTSW	17	69,593,795 (GRCm39)	missense	probably damaging	1.00
R5374:Epb41l3	UTSW	17	69,593,795 (GRCm39)	missense	probably damaging	1.00
R5938:Epb41l3	UTSW	17	69,566,066 (GRCm39)	missense	probably damaging	1.00
R6014:Epb41l3	UTSW	17	69,590,955 (GRCm39)	missense	probably damaging	0.98
R6059:Epb41l3	UTSW	17	69,593,793 (GRCm39)	missense	probably damaging	1.00
R6059:Epb41l3	UTSW	17	69,591,637 (GRCm39)	missense	probably damaging	1.00
R7318:Epb41l3	UTSW	17	69,573,135 (GRCm39)	missense
R7480:Epb41l3	UTSW	17	69,568,867 (GRCm39)	splice site	probably null
R7548:Epb41l3	UTSW	17	69,517,271 (GRCm39)	missense	probably damaging	1.00
R7719:Epb41l3	UTSW	17	69,560,409 (GRCm39)	missense	possibly damaging	0.81
R7769:Epb41l3	UTSW	17	69,545,421 (GRCm39)	missense	probably damaging	0.98
R7903:Epb41l3	UTSW	17	69,581,332 (GRCm39)	splice site	probably null
R8099:Epb41l3	UTSW	17	69,554,683 (GRCm39)	missense	possibly damaging	0.79
R8175:Epb41l3	UTSW	17	69,517,361 (GRCm39)	missense	probably damaging	1.00
R8225:Epb41l3	UTSW	17	69,581,796 (GRCm39)	missense	possibly damaging	0.52
R8364:Epb41l3	UTSW	17	69,573,429 (GRCm39)	critical splice donor site	probably null
R8540:Epb41l3	UTSW	17	69,593,757 (GRCm39)	missense	probably damaging	1.00
R8859:Epb41l3	UTSW	17	69,591,575 (GRCm39)	missense	probably benign	0.28
R8984:Epb41l3	UTSW	17	69,554,641 (GRCm39)	missense	probably damaging	1.00
R9048:Epb41l3	UTSW	17	69,517,218 (GRCm39)	missense	probably benign	0.06
X0066:Epb41l3	UTSW	17	69,566,153 (GRCm39)	nonsense	probably null
Z1088:Epb41l3	UTSW	17	69,560,517 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACCGTTGTCTGGTTTTC -3'
(R):5'- GGAACGCTGCTCATTGGAAG -3'

Sequencing Primer
(F):5'- CCGTTGTCTGGTTTTCTGGGTAC -3'
(R):5'- GCTCATTGGAAGCCTTGAGC -3'

Posted On

2014-10-01