Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Elavl4'

405281

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.486) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110203722-110351909 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110211430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 247 (F247L)

Ref Sequence

ENSEMBL: ENSMUSP00000102214 (fasta)

Gene Model

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

AlphaFold

Q61701

Predicted Effect

probably benign
Transcript: ENSMUST00000102722
AA Change: F249L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099783
Gene: ENSMUSG00000028546
AA Change: F249L

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: F244L

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

SMART Domains

Protein: ENSMUSP00000099784
Gene: ENSMUSG00000028546
AA Change: F244L

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

possibly damaging
Transcript: ENSMUST00000106597
AA Change: F249L

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102207
Gene: ENSMUSG00000028546
AA Change: F249L

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: F244L

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

SMART Domains

Protein: ENSMUSP00000102208
Gene: ENSMUSG00000028546
AA Change: F244L

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: F261L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102210
Gene: ENSMUSG00000028546
AA Change: F261L

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

possibly damaging
Transcript: ENSMUST00000106601
AA Change: F244L

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: F244L

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

possibly damaging
Transcript: ENSMUST00000106603
AA Change: F247L

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102214
Gene: ENSMUSG00000028546
AA Change: F247L

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

noncoding transcript
Transcript: ENSMUST00000153200

Meta Mutation Damage Score

0.1290

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,152,003 (GRCm38)		noncoding transcript	Het
Acaca	A	G	11: 84,391,519 (GRCm38)	E2154G	probably benign	Het
Acacb	T	C	5: 114,241,952 (GRCm38)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,811,157 (GRCm38)		probably benign	Het
Amn1	T	A	6: 149,185,124 (GRCm38)		probably benign	Het
Arid1a	C	A	4: 133,691,055 (GRCm38)		probably benign	Het
Aste1	T	A	9: 105,402,705 (GRCm38)		probably null	Het
Asxl3	T	A	18: 22,516,439 (GRCm38)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,988,048 (GRCm38)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,628,766 (GRCm38)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,978,602 (GRCm38)	H101R	probably benign	Het
Bicc1	G	A	10: 70,947,900 (GRCm38)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,878,981 (GRCm38)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,610,440 (GRCm38)	E523G	probably benign	Het
Cops6	G	C	5: 138,161,116 (GRCm38)		probably benign	Het
Cp	G	C	3: 19,966,316 (GRCm38)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,873,483 (GRCm38)	M52K	possibly damaging	Het
Dars	A	T	1: 128,364,302 (GRCm38)	F480I	probably benign	Het
Diaph1	T	C	18: 37,897,580 (GRCm38)	M274V	unknown	Het
Diaph1	C	A	18: 37,897,550 (GRCm38)	E284*	probably null	Het
Dock8	G	A	19: 25,061,153 (GRCm38)	V68M	probably benign	Het
Emc10	C	T	7: 44,496,439 (GRCm38)		probably benign	Het
Fbxw16	T	C	9: 109,436,644 (GRCm38)	D369G	probably benign	Het
Fgr	A	T	4: 132,997,500 (GRCm38)	D304V	probably benign	Het
Filip1l	G	A	16: 57,570,036 (GRCm38)	S91N	possibly damaging	Het
Gm884	A	G	11: 103,616,231 (GRCm38)		probably benign	Het
Haus8	A	G	8: 71,255,710 (GRCm38)	S103P	unknown	Het
Hscb	A	G	5: 110,834,792 (GRCm38)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 105,523,297 (GRCm38)	M347L	probably benign	Het
Jrk	C	A	15: 74,707,336 (GRCm38)	E33D	possibly damaging	Het
Kbtbd8	T	A	6: 95,121,832 (GRCm38)	Y123*	probably null	Het
Mis18bp1	A	C	12: 65,157,043 (GRCm38)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,409,873 (GRCm38)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,427,794 (GRCm38)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,400,800 (GRCm38)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,517,506 (GRCm38)		probably null	Het
Olfr248	A	T	1: 174,391,225 (GRCm38)	Y52F	probably benign	Het
Olfr692	C	T	7: 105,368,413 (GRCm38)	T20I	probably benign	Het
Olfr748	A	G	14: 50,710,443 (GRCm38)	T38A	possibly damaging	Het
Olfr748	A	G	14: 50,710,779 (GRCm38)	I150V	probably benign	Het
Otud4	A	T	8: 79,672,892 (GRCm38)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,115,568 (GRCm38)	I166N	possibly damaging	Het
Pak2	T	A	16: 32,021,830 (GRCm38)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,639,000 (GRCm38)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,728,111 (GRCm38)		probably null	Het
Peg3	C	A	7: 6,717,849 (GRCm38)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,668,893 (GRCm38)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,478,668 (GRCm38)	F1737L	probably benign	Het
Rex2	A	C	4: 147,057,985 (GRCm38)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003 (GRCm38)		probably null	Het
Rnf39	C	T	17: 36,947,200 (GRCm38)	A86V	probably damaging	Het
Ror1	A	T	4: 100,425,938 (GRCm38)	N400I	probably benign	Het
Slc38a8	C	T	8: 119,494,289 (GRCm38)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,956,310 (GRCm38)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,718,908 (GRCm38)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,008,218 (GRCm38)	F74L	probably benign	Het
Trappc11	G	C	8: 47,530,731 (GRCm38)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,472,488 (GRCm38)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,773,414 (GRCm38)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,777,190 (GRCm38)	V161A	probably benign	Het
Usp24	A	G	4: 106,362,357 (GRCm38)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,651,864 (GRCm38)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,455,113 (GRCm38)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,069,754 (GRCm38)	C517*	probably null	Het
Vps13a	A	T	19: 16,641,667 (GRCm38)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het
Xpo5	T	C	17: 46,236,922 (GRCm38)	V896A	probably benign	Het
Zfp2	T	C	11: 50,901,241 (GRCm38)		probably benign	Het
Zgrf1	G	A	3: 127,600,980 (GRCm38)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,979,577 (GRCm38)	D686G	possibly damaging	Het

Other mutations in Elavl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Elavl4	APN	4	110,206,612 (GRCm38)	missense	probably benign	0.03
IGL01777:Elavl4	APN	4	110,206,661 (GRCm38)	critical splice acceptor site	probably null
IGL02212:Elavl4	APN	4	110,206,412 (GRCm38)	missense	probably damaging	1.00
IGL03053:Elavl4	APN	4	110,251,494 (GRCm38)	missense	possibly damaging	0.89
R0386:Elavl4	UTSW	4	110,206,705 (GRCm38)	intron	probably benign
R1141:Elavl4	UTSW	4	110,251,368 (GRCm38)	nonsense	probably null
R1826:Elavl4	UTSW	4	110,251,292 (GRCm38)	missense	probably damaging	1.00
R5155:Elavl4	UTSW	4	110,292,636 (GRCm38)	missense	probably null	0.22
R5507:Elavl4	UTSW	4	110,213,206 (GRCm38)	missense	probably benign	0.17
R5558:Elavl4	UTSW	4	110,206,603 (GRCm38)	missense	probably benign	0.37
R5927:Elavl4	UTSW	4	110,290,243 (GRCm38)	unclassified	probably benign
R5987:Elavl4	UTSW	4	110,290,644 (GRCm38)	missense	probably benign	0.40
R6376:Elavl4	UTSW	4	110,255,454 (GRCm38)	start gained	probably benign
R6504:Elavl4	UTSW	4	110,255,382 (GRCm38)	splice site	probably null
R6987:Elavl4	UTSW	4	110,251,405 (GRCm38)	missense	possibly damaging	0.70
R7278:Elavl4	UTSW	4	110,211,425 (GRCm38)	critical splice donor site	probably null
R7431:Elavl4	UTSW	4	110,226,633 (GRCm38)	missense	probably damaging	1.00
R7717:Elavl4	UTSW	4	110,206,466 (GRCm38)	missense	probably damaging	1.00
R7979:Elavl4	UTSW	4	110,211,648 (GRCm38)	missense	probably benign	0.12
R8516:Elavl4	UTSW	4	110,251,379 (GRCm38)	missense	probably damaging	1.00
R8963:Elavl4	UTSW	4	110,206,579 (GRCm38)	missense	probably damaging	1.00
R9216:Elavl4	UTSW	4	110,251,349 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGGGCTAGGAAGTGCATTTTG -3'
(R):5'- CGCTTTGATAAGAGGATTGAGGC -3'

Sequencing Primer
(F):5'- CTAGGAAGTGCATTTTGTCTGATTGC -3'
(R):5'- CTTTGATAAGAGGATTGAGGCAGAAG -3'

Posted On

2016-07-22