Mutagenetix > Incidental Mutations

Incidental Mutation 'R6987:Elavl4'

543016

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R6987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110203722-110351909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110251405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 55 (D55E)

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
AA Change: D47E

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

SMART Domains

Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: D47E

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: D42E

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

SMART Domains

Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: D42E

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: D47E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: D47E

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: D42E

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

SMART Domains

Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: D42E

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: D59E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: D59E

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: D42E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: D42E

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: D45E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: D45E

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
AA Change: D40E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123014
Gene: ENSMUSG00000028546
AA Change: D40E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142722
AA Change: D55E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546
AA Change: D55E

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
AA Change: D40E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120942
Gene: ENSMUSG00000028546
AA Change: D40E

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: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.9%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,722,696	I137V	probably benign	Het
Agtr1b	A	C	3: 20,316,421	I7S	probably benign	Het
Akt2	G	T	7: 27,633,241	V215L	probably damaging	Het
Ccdc148	C	A	2: 58,982,914	L294F	probably damaging	Het
Ccdc3	T	A	2: 5,138,304	V124E	possibly damaging	Het
Cldnd1	A	G	16: 58,731,371	D121G	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2c40	A	G	19: 39,812,767		probably benign	Het
Dnah8	A	G	17: 30,662,091	I601V	possibly damaging	Het
Dnhd1	C	A	7: 105,704,585	H2982N	probably damaging	Het
Enc1	T	C	13: 97,245,636	I218T	probably benign	Het
Fbln2	T	A	6: 91,234,229	V385D	probably benign	Het
Ffar2	A	G	7: 30,819,683	V144A	possibly damaging	Het
Fsip2	C	T	2: 82,948,286	Q159*	probably null	Het
Gm14548	A	G	7: 3,897,661	I30T	probably damaging	Het
Golga4	A	G	9: 118,558,532	H1574R	probably benign	Het
Herc2	G	A	7: 56,106,453	R747H	possibly damaging	Het
Lama4	A	G	10: 39,074,279	N985D	probably benign	Het
Lrp1	T	C	10: 127,575,005	N1438S	probably damaging	Het
Masp1	C	A	16: 23,513,915	V57F	probably damaging	Het
Mypn	T	C	10: 63,193,131	E51G	probably benign	Het
Nos1	C	T	5: 117,895,785	T324M	probably benign	Het
Npas3	A	G	12: 54,068,253	K635E	possibly damaging	Het
Olfr481	C	A	7: 108,081,131	C112*	probably null	Het
Olfr870	A	T	9: 20,170,834	S246T	probably benign	Het
Osbp2	T	C	11: 3,717,958	E13G	probably damaging	Het
Pkd1l1	A	G	11: 8,902,575	M636T	probably benign	Het
Pla2g4e	C	T	2: 120,186,380	A227T	probably benign	Het
Prex2	C	A	1: 11,170,752	A1028E	probably damaging	Het
Prr14	A	G	7: 127,473,805	D49G	possibly damaging	Het
Slc9a9	A	G	9: 94,669,990		probably benign	Het
Sptb	A	G	12: 76,613,247	C960R	probably benign	Het
Taf15	C	A	11: 83,484,695	T31K	possibly damaging	Het
Tdrd9	C	A	12: 112,025,593	Q601K	possibly damaging	Het
Tes	C	A	6: 17,086,155	Q16K	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem168	T	A	6: 13,591,477	M63L	possibly damaging	Het
Trav14-1	C	T	14: 53,554,459	R89*	probably null	Het
Trp53bp2	A	T	1: 182,446,635	Y615F	probably damaging	Het
Ttc27	T	C	17: 74,777,741		probably null	Het
Usp25	T	A	16: 77,077,180	V548E	probably damaging	Het
Vmn1r124	A	T	7: 21,259,818	I267K	probably benign	Het
Vmn1r69	A	G	7: 10,580,564	M1T	probably null	Het
Zfp729a	T	A	13: 67,619,939	K724*	probably null	Het
Zfp850	A	T	7: 27,990,001	C261S	probably damaging	Het
Zfp882	T	A	8: 71,914,673	V448E	probably benign	Het
Zzef1	A	G	11: 72,855,514	M881V	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
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'- TGAGATCTGCTGTGAATCCC -3'
(R):5'- TGTGTTCACAGCCCAGTCTC -3'

Sequencing Primer
(F):5'- TCCCTAGCCTGAATGTTGAAGAGC -3'
(R):5'- ACAGCCCAGTCTCTCTGC -3'

Posted On

2018-11-28