Mutagenetix > Incidental Mutation

Incidental Mutation 'R4473:Elavl2'

330450

Institutional Source

Beutler Lab

Gene Symbol

Elavl2

Ensembl Gene

ENSMUSG00000008489

Gene Name

ELAV like RNA binding protein 1

Synonyms

mel-N1, Hub

MMRRC Submission

041730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

R4473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91139000-91289022 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 91149246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008633] [ENSMUST00000102799] [ENSMUST00000107109] [ENSMUST00000107109] [ENSMUST00000107110] [ENSMUST00000107111] [ENSMUST00000107111] [ENSMUST00000107116] [ENSMUST00000107116] [ENSMUST00000107118] [ENSMUST00000107118] [ENSMUST00000107120] [ENSMUST00000107120] [ENSMUST00000107124] [ENSMUST00000177109]

AlphaFold

Q60899

Predicted Effect

probably null
Transcript: ENSMUST00000008633

SMART Domains

Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	278	351	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000102799

SMART Domains

Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	54	127	1.44e-24	SMART
RRM	140	215	2.35e-20	SMART
RRM	291	364	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107109

SMART Domains

Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	277	350	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107109

SMART Domains

Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	277	350	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107110

SMART Domains

Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	265	338	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107111

SMART Domains

Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	264	337	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107111

SMART Domains

Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	264	337	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107116

SMART Domains

Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	307	380	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107116

SMART Domains

Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	307	380	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107118

SMART Domains

Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	294	367	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107118

SMART Domains

Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	294	367	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107120

SMART Domains

Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	306	379	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107120

SMART Domains

Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	306	379	5.15e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000107124

SMART Domains

Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	277	350	5.15e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176469

Predicted Effect

probably benign
Transcript: ENSMUST00000177109

SMART Domains

Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,291,313 (GRCm39)	T93K	probably damaging	Het
Actg1	G	A	11: 120,239,085 (GRCm39)	R2C	probably benign	Het
Alb	T	C	5: 90,611,912 (GRCm39)	C114R	probably damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Atp2a2	A	T	5: 122,595,327 (GRCm39)	S1008T	probably benign	Het
Corin	T	C	5: 72,496,400 (GRCm39)	S510G	probably damaging	Het
D630003M21Rik	G	A	2: 158,055,382 (GRCm39)	P585L	probably damaging	Het
Eddm3b	A	G	14: 51,354,236 (GRCm39)	T75A	probably benign	Het
Erc1	G	T	6: 119,825,417 (GRCm39)		probably null	Het
Fancf	A	G	7: 51,511,948 (GRCm39)	C19R	probably benign	Het
Fastkd2	T	C	1: 63,770,833 (GRCm39)	L63P	probably damaging	Het
Fmo1	A	G	1: 162,677,732 (GRCm39)	V128A	possibly damaging	Het
Ifnar1	T	C	16: 91,292,058 (GRCm39)	V133A	probably damaging	Het
Ighv1-49	A	T	12: 115,018,959 (GRCm39)	Y79N	probably damaging	Het
Klhl23	A	G	2: 69,654,151 (GRCm39)	E7G	possibly damaging	Het
Mthfd2	A	G	6: 83,287,517 (GRCm39)		probably benign	Het
Or5d35	T	A	2: 87,855,464 (GRCm39)	Y133N	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Podnl1	A	T	8: 84,858,614 (GRCm39)	I505F	possibly damaging	Het
Ppp6r3	G	T	19: 3,561,978 (GRCm39)	Q228K	probably damaging	Het
Pramel38	A	G	5: 94,366,029 (GRCm39)	N49S	probably benign	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Skor2	C	T	18: 76,947,156 (GRCm39)	P293S	unknown	Het
Sox18	T	C	2: 181,312,669 (GRCm39)	K154R	probably damaging	Het
Tfpi	A	T	2: 84,288,426 (GRCm39)	L10Q	probably null	Het
Trim66	A	T	7: 109,081,202 (GRCm39)	I239N	probably damaging	Het
Ttll1	T	A	15: 83,376,810 (GRCm39)	K304N	probably damaging	Het
Vmn1r5	G	A	6: 56,962,633 (GRCm39)	V103I	probably benign	Het
Vnn1	T	C	10: 23,770,789 (GRCm39)	W6R	probably benign	Het
Wdr35	A	G	12: 9,065,995 (GRCm39)	Y651C	probably benign	Het

Other mutations in Elavl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Elavl2	APN	4	91,152,309 (GRCm39)	missense	probably damaging	1.00
IGL01886:Elavl2	APN	4	91,152,330 (GRCm39)	missense	probably damaging	1.00
IGL02016:Elavl2	APN	4	91,149,172 (GRCm39)	missense	probably damaging	1.00
IGL02024:Elavl2	APN	4	91,141,776 (GRCm39)	missense	probably benign	0.02
IGL02860:Elavl2	APN	4	91,149,190 (GRCm39)	missense	probably damaging	1.00
R0458:Elavl2	UTSW	4	91,197,104 (GRCm39)	splice site	probably benign
R1294:Elavl2	UTSW	4	91,199,826 (GRCm39)	missense	probably benign	0.02
R1778:Elavl2	UTSW	4	91,141,715 (GRCm39)	missense	probably damaging	1.00
R2063:Elavl2	UTSW	4	91,141,687 (GRCm39)	missense	possibly damaging	0.81
R2190:Elavl2	UTSW	4	91,152,331 (GRCm39)	missense	probably benign	0.22
R3773:Elavl2	UTSW	4	91,152,325 (GRCm39)	missense	probably damaging	1.00
R4784:Elavl2	UTSW	4	91,142,379 (GRCm39)	missense	probably null	0.97
R4911:Elavl2	UTSW	4	91,196,915 (GRCm39)	missense	possibly damaging	0.91
R5396:Elavl2	UTSW	4	91,149,055 (GRCm39)	missense	probably damaging	1.00
R6708:Elavl2	UTSW	4	91,141,634 (GRCm39)	missense	probably damaging	1.00
R6882:Elavl2	UTSW	4	91,196,952 (GRCm39)	missense	probably damaging	1.00
R7592:Elavl2	UTSW	4	91,199,808 (GRCm39)	critical splice donor site	probably null
R7849:Elavl2	UTSW	4	91,260,280 (GRCm39)	unclassified	probably benign
R9051:Elavl2	UTSW	4	91,199,847 (GRCm39)	missense	probably benign	0.36
R9381:Elavl2	UTSW	4	91,197,009 (GRCm39)	missense	probably benign
R9727:Elavl2	UTSW	4	91,169,495 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGGGAAAGGATGGCCTGATTG -3'
(R):5'- GGTTTCTTGACAAGCACACGG -3'

Sequencing Primer
(F):5'- TCTGGCCATTTAGGCCTT -3'
(R):5'- GTAACCAGTGAGACCTCGCATTG -3'

Posted On

2015-07-21