Mutagenetix > Incidental Mutations

Incidental Mutation 'R5987:Elavl4'

481711

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

MMRRC Submission

044167-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R5987 (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 110290644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 13 (L13S)

Ref Sequence

ENSEMBL: ENSMUSP00000121828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102722] [ENSMUST00000102723] [ENSMUST00000106597] [ENSMUST00000106598] [ENSMUST00000106600] [ENSMUST00000106601] [ENSMUST00000106603] [ENSMUST00000138972] [ENSMUST00000142722] [ENSMUST00000153906]

AlphaFold

Q61701

Predicted Effect

probably benign
Transcript: ENSMUST00000102722

SMART Domains

Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546

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

SMART Domains

Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546

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

probably benign
Transcript: ENSMUST00000138972

SMART Domains

Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
RRM	45	118	7.57e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142722
AA Change: L13S

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
AA Change: L13S

Domain	Start	End	E-Value	Type
low complexity region	26	41	N/A	INTRINSIC
Pfam:RRM_1	61	92	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153906

SMART Domains

Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
Pfam:RRM_1	46	95	1.3e-14	PFAM
Pfam:RRM_6	46	95	1.5e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,258,098	L2411R	probably damaging	Het
Als2	A	G	1: 59,206,587	W577R	probably damaging	Het
Aox2	C	A	1: 58,307,359	R551S	probably benign	Het
Areg	A	T	5: 91,146,718	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,563,467	T558A	possibly damaging	Het
Arhgef28	A	T	13: 97,936,860	C1322*	probably null	Het
Arhgef38	T	C	3: 133,206,958	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,571,502	F695L	probably damaging	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Bche	T	G	3: 73,648,678	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,929,289	F417L	possibly damaging	Het
Bloc1s1	T	G	10: 128,923,386	K17T	probably damaging	Het
C330018D20Rik	G	T	18: 56,957,896	T65K	probably damaging	Het
Cers1	T	A	8: 70,321,578	S162T	possibly damaging	Het
Cgn	T	C	3: 94,779,522	K157E	probably benign	Het
Cldn7	G	A	11: 69,967,668	R196Q	probably benign	Het
Clrn2	C	A	5: 45,454,027	Q73K	probably benign	Het
Cmss1	A	G	16: 57,302,245	V262A	probably benign	Het
Cpb2	T	A	14: 75,260,688	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,241	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476	S416R	probably benign	Het
Dip2b	C	T	15: 100,190,079	R965C	probably damaging	Het
Dkk3	T	C	7: 112,150,658	T102A	probably benign	Het
Dmap1	C	A	4: 117,680,842		probably null	Het
Dnah12	C	A	14: 26,886,871	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,119,398		probably null	Het
Dnaic1	C	T	4: 41,632,391	T575I	probably benign	Het
Dsg1a	T	A	18: 20,331,542	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,959,233	K18*	probably null	Het
E2f2	A	T	4: 136,172,934	T52S	probably benign	Het
Epor	T	C	9: 21,962,276	D59G	possibly damaging	Het
Eral1	A	G	11: 78,080,233	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,490,848	V228A	probably benign	Het
Gba	T	C	3: 89,205,822	S187P	probably damaging	Het
Gcc2	G	T	10: 58,255,847		probably benign	Het
Gdap2	C	A	3: 100,202,256		probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,663,807		probably null	Het
Gm8251	A	T	1: 44,057,257	N1560K	probably benign	Het
Gpr160	T	C	3: 30,896,463	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,830,866	V184G	probably benign	Het
Gtf2e2	A	T	8: 33,776,052	K252M	probably damaging	Het
Gtf2e2	G	T	8: 33,776,053	K252N	probably benign	Het
Gys1	T	C	7: 45,438,105	Y102H	probably benign	Het
Hist1h4b	A	G	13: 23,757,226	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,612,198	D258A	probably damaging	Het
Itpr3	T	A	17: 27,104,601	M1200K	probably damaging	Het
Kcng4	A	T	8: 119,626,359	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,303,613	S144L	possibly damaging	Het
Lhcgr	A	G	17: 88,755,578	F222S	probably damaging	Het
Lrp5	C	G	19: 3,628,299	G519R	probably damaging	Het
Magel2	T	C	7: 62,378,767	V473A	probably benign	Het
Map1a	T	C	2: 121,304,295	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,758,734	Q760H	probably damaging	Het
Mertk	A	G	2: 128,771,374	N437D	probably benign	Het
Mettl18	G	A	1: 163,996,775	V222I	probably benign	Het
Mical2	C	T	7: 112,334,948	T782M	probably benign	Het
Mocos	T	A	18: 24,686,693	V664E	probably damaging	Het
Neb	G	T	2: 52,295,294	N975K	probably benign	Het
Nectin3	A	T	16: 46,464,145	S59T	probably benign	Het
Nelfb	A	T	2: 25,203,888	M11K	probably damaging	Het
Nrp1	A	G	8: 128,476,169	N545S	probably damaging	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1333	T	C	4: 118,830,281	D53G	probably damaging	Het
Olfr1472	A	T	19: 13,453,960	S186T	possibly damaging	Het
Olfr492	T	A	7: 108,323,047	T210S	probably benign	Het
Olfr66	T	A	7: 103,881,700	D181V	probably damaging	Het
Olfr814	A	T	10: 129,874,521	F79I	probably damaging	Het
Olfr968	T	C	9: 39,772,540	T87A	probably benign	Het
P3h1	A	G	4: 119,246,665	H587R	probably damaging	Het
Paqr4	A	G	17: 23,739,858		probably null	Het
Pde12	A	G	14: 26,669,098	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,350,491	E45*	probably null	Het
Ptch2	C	T	4: 117,110,057	A677V	probably benign	Het
Rgs12	A	G	5: 35,020,345	N93S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnf32	T	C	5: 29,203,147	S125P	probably damaging	Het
Robo4	A	G	9: 37,411,400	I850V	probably damaging	Het
Scap	T	A	9: 110,381,151	I876N	probably damaging	Het
Sin3a	A	G	9: 57,127,200	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,885,808	E354G	unknown	Het
Spg20	A	G	3: 55,126,541	D396G	probably benign	Het
Spindoc	G	A	19: 7,373,659	S311L	probably benign	Het
Spta1	G	T	1: 174,223,328	R1791L	probably damaging	Het
Tbck	T	C	3: 132,801,517	I750T	possibly damaging	Het
Tcrg-V1	A	T	13: 19,340,304	Y66F	probably benign	Het
Tmem191c	T	C	16: 17,276,470		probably null	Het
Vmn2r125	A	G	4: 156,349,997	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,464,817	C358R	possibly damaging	Het
Zfp180	G	A	7: 24,105,434	G426E	probably damaging	Het
Zfp445	A	G	9: 122,853,886	V330A	probably benign	Het
Zfp595	A	G	13: 67,317,624	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,484,453	H387R	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGGAGAAGCCTTACGTG -3'
(R):5'- TTAATGTGCGAACTCTGGGG -3'

Sequencing Primer
(F):5'- CTTACGTGGCACAATGGGCTAG -3'
(R):5'- GCGAACTCTGGGGAAATAATATATTG -3'

Posted On

2017-06-26