Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Elavl3'

307228

Institutional Source

Beutler Lab

Gene Symbol

Elavl3

Ensembl Gene

ENSMUSG00000003410

Gene Name

ELAV like RNA binding protein 3

Synonyms

2600009P04Rik, Huc, mHuC

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21926301-21963319 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21930040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 288 (V288A)

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 damaging
Transcript: ENSMUST00000003501
AA Change: V288A

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

SMART Domains

Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: V288A

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

0.4906

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hps6	A	G	19: 45,992,492 (GRCm39)	E143G	probably damaging	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably damaging	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
R3715:Elavl3	UTSW	9	21,929,895 (GRCm39)	missense	probably benign	0.11
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'- CTGGTCTTGAAGGACACCTG -3'
(R):5'- CATTGTATGAAGATCTCCCAGTGG -3'

Sequencing Primer
(F):5'- TGAAGGACACCTGCAGCACG -3'
(R):5'- CCAGTGGGGGAGTCGGAG -3'

Posted On

2015-04-17