Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Epb41l3'

99351

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

039243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69382678-69596984 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 69566175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 452 (L452*)

Ref Sequence

ENSEMBL: ENSMUSP00000153228 (fasta)

Gene Model

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

AlphaFold

Q9WV92

Predicted Effect

probably null
Transcript: ENSMUST00000080208
AA Change: L452*

SMART Domains

Protein: ENSMUSP00000079098
Gene: ENSMUSG00000024044
AA Change: L452*

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 null
Transcript: ENSMUST00000112680
AA Change: L452*

SMART Domains

Protein: ENSMUSP00000108300
Gene: ENSMUSG00000024044
AA Change: L452*

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 null
Transcript: ENSMUST00000223703
AA Change: L251*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223816

Predicted Effect

probably null
Transcript: ENSMUST00000224523
AA Change: L155*

Predicted Effect

probably benign
Transcript: ENSMUST00000224951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225209

Predicted Effect

probably null
Transcript: ENSMUST00000225977
AA Change: L452*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225316

Predicted Effect

probably benign
Transcript: ENSMUST00000225740

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,856,163 (GRCm39)		probably benign	Het
Akap9	G	A	5: 4,105,671 (GRCm39)	S2914N	probably benign	Het
Alk	T	C	17: 72,207,729 (GRCm39)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,568,674 (GRCm39)		probably benign	Het
Asb15	T	C	6: 24,562,486 (GRCm39)		probably benign	Het
Asxl3	C	A	18: 22,657,564 (GRCm39)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,098,780 (GRCm39)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,079,388 (GRCm39)		probably benign	Het
C1qtnf1	G	T	11: 118,339,095 (GRCm39)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cage1	C	T	13: 38,206,856 (GRCm39)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,902,317 (GRCm39)	N59I	probably benign	Het
Ccdc110	G	T	8: 46,394,922 (GRCm39)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,830,581 (GRCm39)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,623,119 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Cers4	T	A	8: 4,569,475 (GRCm39)	W161R	probably damaging	Het
Ces2f	T	A	8: 105,680,178 (GRCm39)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,361,669 (GRCm39)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,629,750 (GRCm39)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,366,761 (GRCm39)	R234G	unknown	Het
Col3a1	A	T	1: 45,386,884 (GRCm39)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,378,768 (GRCm39)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,495,941 (GRCm39)		probably null	Het
Dcdc2a	C	A	13: 25,240,290 (GRCm39)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,781,571 (GRCm39)	I240N	probably damaging	Het
Fam193b	C	T	13: 55,689,518 (GRCm39)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,713,781 (GRCm39)		probably benign	Het
Fastkd1	A	G	2: 69,538,993 (GRCm39)		probably benign	Het
Fmnl1	G	A	11: 103,088,196 (GRCm39)	G69D	probably benign	Het
Foxn2	A	G	17: 88,781,094 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,821,844 (GRCm39)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,912,820 (GRCm39)		noncoding transcript	Het
H2-T13	T	C	17: 36,391,983 (GRCm39)	N44S	possibly damaging	Het
Helz2	T	C	2: 180,871,608 (GRCm39)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,277,952 (GRCm39)	C93*	probably null	Het
Lig1	C	T	7: 13,026,079 (GRCm39)	A278V	probably benign	Het
Lipn	T	A	19: 34,049,158 (GRCm39)	I108K	probably benign	Het
Lsamp	A	G	16: 41,971,592 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,129,743 (GRCm39)		probably benign	Het
Mdm4	A	T	1: 132,919,558 (GRCm39)	C436S	probably damaging	Het
Mdm4	A	G	1: 132,940,430 (GRCm39)	L33P	probably damaging	Het
Meiob	T	C	17: 25,055,458 (GRCm39)	W422R	probably damaging	Het
Mppe1	T	C	18: 67,360,777 (GRCm39)	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,940,964 (GRCm39)	N301K	probably benign	Het
Muc6	C	T	7: 141,230,500 (GRCm39)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,437,588 (GRCm39)	Y2091*	probably null	Het
Mylk	G	A	16: 34,694,409 (GRCm39)	R156H	probably benign	Het
Myo15a	G	T	11: 60,370,233 (GRCm39)	D998Y	probably benign	Het
Neb	A	T	2: 52,086,369 (GRCm39)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,743,370 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,083,324 (GRCm39)	K619R	probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm39)	H135R	probably damaging	Het
Nrg1	T	C	8: 32,327,695 (GRCm39)		probably benign	Het
Odr4	T	A	1: 150,262,142 (GRCm39)	E99D	probably benign	Het
Or4f59	A	T	2: 111,872,560 (GRCm39)	D272E	probably benign	Het
Or5b122	T	C	19: 13,563,577 (GRCm39)	V260A	probably benign	Het
Or5m8	A	T	2: 85,823,040 (GRCm39)	N293I	probably damaging	Het
Or8g24	T	A	9: 38,989,525 (GRCm39)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,353,204 (GRCm39)		probably benign	Het
Pde2a	A	G	7: 101,133,750 (GRCm39)	E103G	probably benign	Het
Pds5a	A	T	5: 65,792,645 (GRCm39)		probably benign	Het
Pip4k2c	A	G	10: 127,047,262 (GRCm39)	V40A	unknown	Het
Pitrm1	T	C	13: 6,602,780 (GRCm39)		probably benign	Het
Plk4	A	G	3: 40,756,282 (GRCm39)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 21,171,593 (GRCm39)		probably benign	Het
Ppp4r3b	T	A	11: 29,159,426 (GRCm39)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,368,177 (GRCm39)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,498,295 (GRCm39)		probably null	Het
Prx	T	A	7: 27,217,432 (GRCm39)	C644*	probably null	Het
Ptpru	A	G	4: 131,535,838 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,619,696 (GRCm39)	D738E	probably damaging	Het
Recql5	A	T	11: 115,788,060 (GRCm39)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,663,088 (GRCm39)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,846,917 (GRCm39)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,777,332 (GRCm39)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,441,735 (GRCm39)	Y222*	probably null	Het
Shld2	A	T	14: 33,990,448 (GRCm39)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,483,347 (GRCm39)	G584V	probably damaging	Het
Slc35b3	T	A	13: 39,121,307 (GRCm39)	Y311F	probably benign	Het
Slc44a5	A	G	3: 153,963,357 (GRCm39)		probably null	Het
Slc6a9	A	G	4: 117,722,003 (GRCm39)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,364,728 (GRCm39)		probably null	Het
Spast	A	G	17: 74,688,963 (GRCm39)		probably null	Het
Spink5	A	T	18: 44,116,630 (GRCm39)	E208V	probably benign	Het
Stag1	T	C	9: 100,770,506 (GRCm39)		probably benign	Het
Stambp	A	G	6: 83,540,803 (GRCm39)		probably null	Het
Sult3a2	A	T	10: 33,653,188 (GRCm39)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,290,636 (GRCm39)	D162G	probably damaging	Het
Themis	A	C	10: 28,544,744 (GRCm39)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem131	A	T	1: 36,873,979 (GRCm39)	Y271*	probably null	Het
Trim35	T	A	14: 66,546,248 (GRCm39)	S338R	probably benign	Het
Trim42	C	A	9: 97,245,673 (GRCm39)	V376F	probably benign	Het
Tshr	A	T	12: 91,504,871 (GRCm39)	K11M	probably damaging	Het
Vps8	A	G	16: 21,278,570 (GRCm39)		probably benign	Het
Wdr11	T	C	7: 129,208,831 (GRCm39)		probably benign	Het
Wdr26	A	T	1: 181,008,859 (GRCm39)		probably benign	Het
Wdtc1	A	G	4: 133,024,857 (GRCm39)	Y447H	probably damaging	Het
Zfp687	C	T	3: 94,915,784 (GRCm39)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,840,446 (GRCm39)	V135E	probably benign	Het
Zranb2	T	C	3: 157,247,502 (GRCm39)		probably benign	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
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
R2138:Epb41l3	UTSW	17	69,514,875 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-15