Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Elavl4'

73127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

110203722-110351909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110206612 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 264 (N264S)

Ref Sequence

ENSEMBL: ENSMUSP00000102214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102722] [ENSMUST00000102723] [ENSMUST00000106597] [ENSMUST00000106598] [ENSMUST00000106600] [ENSMUST00000106601] [ENSMUST00000106603]

AlphaFold

Q61701

Predicted Effect

probably benign
Transcript: ENSMUST00000102722
AA Change: N279S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: N279S

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
RRM	52	125	7.57e-24	SMART
RRM	138	213	1.35e-20	SMART
low complexity region	219	233	N/A	INTRINSIC
RRM	289	362	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102723
AA Change: N288S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: N288S

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
RRM	47	120	7.57e-24	SMART
RRM	133	208	1.35e-20	SMART
low complexity region	214	228	N/A	INTRINSIC
RRM	298	371	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106597
AA Change: N293S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: N293S

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
RRM	52	125	7.57e-24	SMART
RRM	138	213	1.35e-20	SMART
low complexity region	219	233	N/A	INTRINSIC
RRM	303	376	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106598
AA Change: N274S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: N274S

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
RRM	47	120	7.57e-24	SMART
RRM	133	208	1.35e-20	SMART
low complexity region	214	228	N/A	INTRINSIC
RRM	284	357	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106600
AA Change: N291S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: N291S

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
RRM	64	137	7.57e-24	SMART
RRM	150	225	1.35e-20	SMART
low complexity region	231	245	N/A	INTRINSIC
RRM	301	374	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106601
AA Change: N274S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: N274S

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
RRM	47	120	7.57e-24	SMART
RRM	133	208	1.35e-20	SMART
low complexity region	214	228	N/A	INTRINSIC
RRM	284	357	2.37e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106603
AA Change: N264S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: N264S

Domain	Start	End	E-Value	Type
low complexity region	16	31	N/A	INTRINSIC
RRM	50	123	7.57e-24	SMART
RRM	136	211	1.35e-20	SMART
low complexity region	217	231	N/A	INTRINSIC
RRM	274	347	2.37e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153200

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display increased neural progenitor self-renewal and impaired neuronal differentiation, partial penetrance of hind limb clasping, and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Elavl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Elavl4	APN	4	110206661	critical splice acceptor site	probably null
IGL02212:Elavl4	APN	4	110206412	missense	probably damaging	1.00
IGL03053:Elavl4	APN	4	110251494	missense	possibly damaging	0.89
R0386:Elavl4	UTSW	4	110206705	intron	probably benign
R1141:Elavl4	UTSW	4	110251368	nonsense	probably null
R1826:Elavl4	UTSW	4	110251292	missense	probably damaging	1.00
R5155:Elavl4	UTSW	4	110292636	missense	probably null	0.22
R5294:Elavl4	UTSW	4	110211430	missense	possibly damaging	0.90
R5507:Elavl4	UTSW	4	110213206	missense	probably benign	0.17
R5558:Elavl4	UTSW	4	110206603	missense	probably benign	0.37
R5927:Elavl4	UTSW	4	110290243	unclassified	probably benign
R5987:Elavl4	UTSW	4	110290644	missense	probably benign	0.40
R6376:Elavl4	UTSW	4	110255454	start gained	probably benign
R6504:Elavl4	UTSW	4	110255382	splice site	probably null
R6987:Elavl4	UTSW	4	110251405	missense	possibly damaging	0.70
R7278:Elavl4	UTSW	4	110211425	critical splice donor site	probably null
R7431:Elavl4	UTSW	4	110226633	missense	probably damaging	1.00
R7717:Elavl4	UTSW	4	110206466	missense	probably damaging	1.00
R7979:Elavl4	UTSW	4	110211648	missense	probably benign	0.12
R8516:Elavl4	UTSW	4	110251379	missense	probably damaging	1.00
R8963:Elavl4	UTSW	4	110206579	missense	probably damaging	1.00
R9216:Elavl4	UTSW	4	110251349	missense	probably damaging	1.00

Posted On

2013-10-07