Mutagenetix > Incidental Mutation

Incidental Mutation 'R7717:Elavl4'

594965

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R7717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110203722-110351909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110206466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 342 (C342R)

Ref Sequence

ENSEMBL: ENSMUSP00000102207 (fasta)

Gene Model

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

AlphaFold

Q61701

Predicted Effect

probably damaging
Transcript: ENSMUST00000102722
AA Change: C328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: C328R

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 damaging
Transcript: ENSMUST00000102723
AA Change: C337R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: C337R

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 damaging
Transcript: ENSMUST00000106597
AA Change: C342R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: C342R

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 damaging
Transcript: ENSMUST00000106598
AA Change: C323R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: C323R

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 damaging
Transcript: ENSMUST00000106600
AA Change: C340R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: C340R

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 damaging
Transcript: ENSMUST00000106601
AA Change: C323R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: C323R

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 damaging
Transcript: ENSMUST00000106603
AA Change: C313R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: C313R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,606,757	C408G	probably benign	Het
Adgrf5	T	C	17: 43,450,753	L1113P	probably damaging	Het
Aldh3b3	T	C	19: 3,963,970	L57P	probably damaging	Het
Asb15	A	G	6: 24,559,252	D132G	probably benign	Het
Cep290	C	T	10: 100,492,681	R111W	probably benign	Het
Cfap44	A	G	16: 44,429,935	D792G	probably damaging	Het
Col20a1	C	T	2: 181,007,615	R1029W	probably damaging	Het
Csf3r	A	G	4: 126,037,610	Y462C	probably damaging	Het
Cthrc1	T	C	15: 39,077,116	V38A	probably benign	Het
Cxcr2	T	C	1: 74,158,839	V164A	probably benign	Het
D230025D16Rik	C	A	8: 105,251,604	Q397K	probably benign	Het
Efr3b	A	G	12: 3,984,574	S199P	probably damaging	Het
Gemin5	A	T	11: 58,151,530		probably null	Het
Gm14190	A	T	11: 99,690,650	C31S	unknown	Het
Golt1b	T	A	6: 142,394,043	V78D	probably damaging	Het
Gsdmc3	T	A	15: 63,869,212	D29V	probably damaging	Het
Itih1	T	A	14: 30,931,185	D766V	probably damaging	Het
Larp1b	C	T	3: 40,972,444	S251F	probably damaging	Het
Lrp8	A	G	4: 107,834,743	T115A	probably benign	Het
Lrrc37a	A	G	11: 103,504,300	S100P	probably benign	Het
Lss	T	C	10: 76,545,452	V424A	possibly damaging	Het
Ltbp1	T	C	17: 75,290,078	V568A	possibly damaging	Het
Myo10	A	T	15: 25,731,970	T311S	probably benign	Het
Nsd3	T	C	8: 25,682,562	V779A	probably benign	Het
Olfr1335	A	T	4: 118,808,933	S310R	probably damaging	Het
Olfr138	C	A	17: 38,275,580	Q270K	probably damaging	Het
Olfr1444	A	T	19: 12,861,795	I7F	probably benign	Het
Olfr624	T	C	7: 103,670,945	T29A	probably benign	Het
Olfr698	A	G	7: 106,752,636	W251R	possibly damaging	Het
Olfr748	T	A	14: 50,710,762	L144Q	probably damaging	Het
Pak1	T	A	7: 97,886,348	D215E	probably benign	Het
Pde7b	A	G	10: 20,407,191	F355L	probably benign	Het
Pi4ka	A	G	16: 17,376,923	S204P		Het
Pirb	T	C	7: 3,717,783	K239E	not run	Het
Pirb	C	T	7: 3,717,801	G233R	not run	Het
Pnp	G	A	14: 50,951,003	M211I	probably benign	Het
Pot1a	A	T	6: 25,758,823	L319Q	probably benign	Het
Rspry1	G	T	8: 94,623,122	C46F	probably damaging	Het
Sec11c	C	T	18: 65,812,712	T82M	possibly damaging	Het
Secisbp2	T	C	13: 51,673,098	V414A	probably benign	Het
Tenm2	A	G	11: 36,864,935	F79L	probably damaging	Het
Vmn2r2	A	G	3: 64,134,598	V232A	possibly damaging	Het
Zbtb17	T	C	4: 141,466,083	S593P	probably damaging	Het
Zfp143	T	G	7: 110,086,220	C419G	possibly damaging	Het
Zfp804b	T	C	5: 6,771,293	N590S	possibly damaging	Het

Other mutations in Elavl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Elavl4	APN	4	110206612	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCTTGGAAAGTTTGTCTCTC -3'
(R):5'- ACGGGATGACAAGTCTTGTGG -3'

Sequencing Primer
(F):5'- CTTGGAAAGTTTGTCTCTCTCTTTTG -3'
(R):5'- CAAGTCTTGTGGGAATGAACATCCC -3'

Posted On

2019-11-12