Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:Elavl3'

649057

Institutional Source

Beutler Lab

Gene Symbol

Elavl3

Ensembl Gene

ENSMUSG00000003410

Gene Name

ELAV like RNA binding protein 3

Synonyms

2600009P04Rik, Huc, mHuC

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22015005-22052023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22036316 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 110 (I110T)

Ref Sequence

ENSEMBL: ENSMUSP00000003501 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000003501
AA Change: I110T

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: I110T

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: ENSMUST00000213738

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215901
AA Change: I109T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.7472

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
Gad1	T	A	2: 70,594,585		probably null	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	Het

Other mutations in Elavl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02019:Elavl3	APN	9	22036718	missense	probably damaging	1.00
IGL02740:Elavl3	APN	9	22036379	missense	probably benign	0.06
IGL03011:Elavl3	APN	9	22036316	missense	probably damaging	1.00
IGL03211:Elavl3	APN	9	22018678	missense	probably damaging	1.00
R0022:Elavl3	UTSW	9	22036871	splice site	probably benign
R0105:Elavl3	UTSW	9	22036833	missense	possibly damaging	0.84
R0850:Elavl3	UTSW	9	22036763	missense	probably damaging	0.96
R1496:Elavl3	UTSW	9	22026165	splice site	probably benign
R1499:Elavl3	UTSW	9	22018579	missense	probably damaging	0.97
R3500:Elavl3	UTSW	9	22018744	missense	probably damaging	1.00
R3714:Elavl3	UTSW	9	22018599	missense	probably benign	0.11
R3715:Elavl3	UTSW	9	22018599	missense	probably benign	0.11
R3937:Elavl3	UTSW	9	22018744	missense	probably damaging	1.00
R3938:Elavl3	UTSW	9	22018744	missense	probably damaging	1.00
R4791:Elavl3	UTSW	9	22024678	missense	probably damaging	0.99
R4856:Elavl3	UTSW	9	22026318	missense	possibly damaging	0.64
R4886:Elavl3	UTSW	9	22026318	missense	possibly damaging	0.64
R4962:Elavl3	UTSW	9	22036811	missense	probably benign	0.06
R5526:Elavl3	UTSW	9	22036326	missense	probably benign
R5643:Elavl3	UTSW	9	22018733	missense	probably benign	0.12
R6593:Elavl3	UTSW	9	22018547	missense	possibly damaging	0.58
R7102:Elavl3	UTSW	9	22018729	missense	possibly damaging	0.72
R7897:Elavl3	UTSW	9	22018550	missense	probably damaging	1.00
R8710:Elavl3	UTSW	9	22026553	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCTGGCAGATTCTCTATG -3'
(R):5'- ACAAGTGTGACCTTGGTGGG -3'

Sequencing Primer
(F):5'- TGATAGTGCATTCTCCAGCCAGG -3'
(R):5'- AAGTGGCTCTCTGGGGAACAC -3'

Posted On

2020-09-15