Mutagenetix > Incidental Mutation

Incidental Mutation 'R3715:Elavl3'

259855

Institutional Source

Beutler Lab

Gene Symbol

Elavl3

Ensembl Gene

ENSMUSG00000003410

Gene Name

ELAV like RNA binding protein 3

Synonyms

2600009P04Rik, Huc, mHuC

MMRRC Submission

040708-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R3715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21926301-21963319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21929895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 336 (D336E)

Ref Sequence

ENSEMBL: ENSMUSP00000003501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003493] [ENSMUST00000003501] [ENSMUST00000115331] [ENSMUST00000215901] [ENSMUST00000216344]

AlphaFold

Q60900

PDB Structure

SOLUTION STRUCTURE OF THE FIRST RNA-BINDING DOMAIN (RBD1) OF HU ANTIGEN C (HUC) [SOLUTION NMR]
SOLUTION STRUCTURE OF THE SECOND RNA-BINDING DOMAIN (RBD2) OF HU ANTIGEN C (HUC) [SOLUTION NMR]
SOLUTION STRUCTURE OF THE HUC RBD1-RBD2 COMPLEXED WITH THE AU-RICH ELEMENT [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000003493

SMART Domains

Protein: ENSMUSP00000003493
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	3.48e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	214	236	5.5e-5	PFAM
Pfam:EF-hand_5	239	257	4.4e-4	PFAM
low complexity region	290	341	N/A	INTRINSIC
Pfam:PRKCSH_1	366	512	4.3e-23	PFAM
Pfam:PRKCSH	406	464	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000003501
AA Change: D336E

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: D336E

Domain	Start	End	E-Value	Type
low complexity region	14	33	N/A	INTRINSIC
RRM	40	113	9.99e-24	SMART
RRM	126	201	2.81e-18	SMART
low complexity region	266	283	N/A	INTRINSIC
RRM	285	358	1.79e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115331

SMART Domains

Protein: ENSMUSP00000110987
Gene: ENSMUSG00000003402

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
LDLa	32	72	3.01e-2	SMART
internal_repeat_1	91	105	1.7e-7	PROSPERO
low complexity region	177	191	N/A	INTRINSIC
Pfam:EF-hand_5	215	236	3.2e-5	PFAM
Pfam:EF-hand_5	239	257	1.2e-3	PFAM
low complexity region	290	352	N/A	INTRINSIC
Pfam:PRKCSH_1	373	519	4.4e-23	PFAM
Pfam:PRKCSH	413	471	4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213700

Predicted Effect

probably benign
Transcript: ENSMUST00000215901

Predicted Effect

probably benign
Transcript: ENSMUST00000216344

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain-specific preweaning lethality, abnormal cortical hypersynchronization and non-convulsive electropgraphic seizure. Mice heterozygous for the allele exhibit abnormal brain wave pattern and spike wave discharge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Aaas	T	C	15: 102,248,771 (GRCm39)	I236V	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adamtsl1	T	A	4: 86,135,213 (GRCm39)	I246N	probably benign	Het
Ak9	A	G	10: 41,233,508 (GRCm39)	D582G	probably damaging	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Bmal2	A	G	6: 146,724,187 (GRCm39)	K360E	probably damaging	Het
Cacna2d3	T	C	14: 29,068,880 (GRCm39)	I282M	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dlat	A	G	9: 50,549,354 (GRCm39)	V510A	probably damaging	Het
Eaf1	T	C	14: 31,224,402 (GRCm39)	I173T	possibly damaging	Het
Epm2a	A	G	10: 11,219,420 (GRCm39)	Y69C	probably benign	Het
Fam168a	A	G	7: 100,473,432 (GRCm39)	N107S	probably damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Glt8d2	C	A	10: 82,488,571 (GRCm39)	A300S	probably benign	Het
Hcn4	G	A	9: 58,751,319 (GRCm39)	R315H	unknown	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Lyg1	G	T	1: 37,989,759 (GRCm39)	R43S	probably damaging	Het
Marchf6	A	G	15: 31,465,405 (GRCm39)	L833P	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Med17	G	A	9: 15,175,062 (GRCm39)		probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Or2t26	T	C	11: 49,039,642 (GRCm39)	L186P	probably damaging	Het
Or4c15	A	G	2: 88,759,757 (GRCm39)	W301R	probably benign	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Otof	T	A	5: 30,534,215 (GRCm39)	K1397*	probably null	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Rbfox2	A	G	15: 76,983,451 (GRCm39)	I270T	probably damaging	Het
Rnf217	G	T	10: 31,410,728 (GRCm39)	C322*	probably null	Het
Sbk1	A	G	7: 125,889,183 (GRCm39)	T50A	probably benign	Het
Shmt1	T	C	11: 60,688,402 (GRCm39)	T248A	probably damaging	Het
Smim29	G	A	17: 27,785,043 (GRCm39)		probably benign	Het
Sox30	C	T	11: 45,875,619 (GRCm39)	T457I	probably damaging	Het
Stox2	T	A	8: 47,866,187 (GRCm39)	I52F	possibly damaging	Het
Syncrip	A	T	9: 88,361,738 (GRCm39)		probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,204,405 (GRCm39)	E235G	probably benign	Het
Tmem82	A	T	4: 141,344,945 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,230 (GRCm39)	T476A	probably damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn2r100	A	G	17: 19,752,272 (GRCm39)	R772G	probably damaging	Het
Xkr5	T	C	8: 18,984,474 (GRCm39)	E190G	probably benign	Het
Zfp236	A	G	18: 82,651,095 (GRCm39)		probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zp2	A	T	7: 119,741,057 (GRCm39)	S156T	possibly damaging	Het
Zswim5	A	G	4: 116,819,755 (GRCm39)	T387A	probably benign	Het

Other mutations in Elavl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Elavl3	APN	9	21,948,014 (GRCm39)	missense	probably damaging	1.00
IGL02740:Elavl3	APN	9	21,947,675 (GRCm39)	missense	probably benign	0.06
IGL03011:Elavl3	APN	9	21,947,612 (GRCm39)	missense	probably damaging	1.00
IGL03211:Elavl3	APN	9	21,929,974 (GRCm39)	missense	probably damaging	1.00
R0022:Elavl3	UTSW	9	21,948,167 (GRCm39)	splice site	probably benign
R0105:Elavl3	UTSW	9	21,948,129 (GRCm39)	missense	possibly damaging	0.84
R0850:Elavl3	UTSW	9	21,948,059 (GRCm39)	missense	probably damaging	0.96
R1496:Elavl3	UTSW	9	21,937,461 (GRCm39)	splice site	probably benign
R1499:Elavl3	UTSW	9	21,929,875 (GRCm39)	missense	probably damaging	0.97
R3500:Elavl3	UTSW	9	21,930,040 (GRCm39)	missense	probably damaging	1.00
R3714:Elavl3	UTSW	9	21,929,895 (GRCm39)	missense	probably benign	0.11
R3937:Elavl3	UTSW	9	21,930,040 (GRCm39)	missense	probably damaging	1.00
R3938:Elavl3	UTSW	9	21,930,040 (GRCm39)	missense	probably damaging	1.00
R4791:Elavl3	UTSW	9	21,935,974 (GRCm39)	missense	probably damaging	0.99
R4856:Elavl3	UTSW	9	21,937,614 (GRCm39)	missense	possibly damaging	0.64
R4886:Elavl3	UTSW	9	21,937,614 (GRCm39)	missense	possibly damaging	0.64
R4962:Elavl3	UTSW	9	21,948,107 (GRCm39)	missense	probably benign	0.06
R5526:Elavl3	UTSW	9	21,947,622 (GRCm39)	missense	probably benign
R5643:Elavl3	UTSW	9	21,930,029 (GRCm39)	missense	probably benign	0.12
R6593:Elavl3	UTSW	9	21,929,843 (GRCm39)	missense	possibly damaging	0.58
R7102:Elavl3	UTSW	9	21,930,025 (GRCm39)	missense	possibly damaging	0.72
R7897:Elavl3	UTSW	9	21,929,846 (GRCm39)	missense	probably damaging	1.00
R7941:Elavl3	UTSW	9	21,947,612 (GRCm39)	missense	possibly damaging	0.94
R8710:Elavl3	UTSW	9	21,937,849 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTGTGGTGTTTATGCAG -3'
(R):5'- AAAGTAGTCCCCTGTCGCTCATC -3'

Sequencing Primer
(F):5'- TCGAGATTGCGCACACTC -3'
(R):5'- CCATCGATGGCATGAGTGG -3'

Posted On

2015-01-23