Mutagenetix > Incidental Mutation

Incidental Mutation 'R0386:Elavl4'

31280

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

MMRRC Submission

038592-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R0386 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

110060919-110209106 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 110063902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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

noncoding transcript
Transcript: ENSMUST00000153200

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,308 (GRCm39)	V194A	probably damaging	Het
Adamts13	G	A	2: 26,876,691 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,988,508 (GRCm39)	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,906,335 (GRCm39)	C1409S	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,338,687 (GRCm39)	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,727 (GRCm39)	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,060,107 (GRCm39)	L2774F	probably damaging	Het
Dst	A	T	1: 34,256,917 (GRCm39)	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Efcab5	A	T	11: 77,063,204 (GRCm39)	M96K	probably benign	Het
Flt4	G	A	11: 49,535,213 (GRCm39)	A1214T	probably benign	Het
Fn1	G	T	1: 71,634,945 (GRCm39)	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,222,629 (GRCm39)	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,266,150 (GRCm39)	Y269F	probably damaging	Het
Ghitm	A	G	14: 36,847,868 (GRCm39)	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,851,928 (GRCm39)		noncoding transcript	Het
Gm16380	T	A	9: 53,791,727 (GRCm39)		noncoding transcript	Het
Gm9869	A	T	9: 60,745,344 (GRCm39)		probably benign	Het
Gm9936	G	A	5: 114,995,192 (GRCm39)	Q142*	probably null	Het
Hmbs	T	C	9: 44,248,305 (GRCm39)	Y260C	probably benign	Het
Hoxc5	T	A	15: 102,923,784 (GRCm39)	C193*	probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Lce1j	T	C	3: 92,696,695 (GRCm39)	K28E	unknown	Het
Lpgat1	C	T	1: 191,451,460 (GRCm39)		probably benign	Het
Lyst	T	C	13: 13,882,799 (GRCm39)		probably benign	Het
Megf11	A	G	9: 64,547,360 (GRCm39)	N235D	probably damaging	Het
Mst1r	T	A	9: 107,794,003 (GRCm39)		probably null	Het
Nr2c2ap	A	G	8: 70,584,237 (GRCm39)	D9G	probably benign	Het
Obscn	T	C	11: 59,027,165 (GRCm39)	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,367,950 (GRCm39)	L188*	probably null	Het
Oma1	A	T	4: 103,182,398 (GRCm39)		probably benign	Het
Or10aa3	A	T	1: 173,877,965 (GRCm39)	T9S	probably benign	Het
Or5m11	A	G	2: 85,782,217 (GRCm39)	E270G	probably damaging	Het
Pcm1	T	C	8: 41,769,060 (GRCm39)	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,639,836 (GRCm39)	M1T	probably null	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm10	C	A	9: 31,227,596 (GRCm39)	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,754,852 (GRCm39)	H1193Q	probably benign	Het
Sall1	A	G	8: 89,759,232 (GRCm39)	S291P	probably damaging	Het
Sdk2	T	C	11: 113,784,290 (GRCm39)	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,117,361 (GRCm39)	Y170F	probably benign	Het
Sema4a	C	T	3: 88,344,107 (GRCm39)	V715I	possibly damaging	Het
Smgc	G	A	15: 91,738,841 (GRCm39)	A500T	probably benign	Het
Spef2	A	G	15: 9,584,148 (GRCm39)	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,620,437 (GRCm39)		probably benign	Het
Tbc1d23	G	A	16: 57,009,636 (GRCm39)	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,420,159 (GRCm39)	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,042,621 (GRCm39)		probably null	Het
Trp53bp1	G	T	2: 121,035,424 (GRCm39)	T1609K	probably damaging	Het
Tut1	A	G	19: 8,932,919 (GRCm39)	N84S	probably benign	Het
Urb1	C	T	16: 90,593,287 (GRCm39)	G282R	probably damaging	Het
Usp19	A	T	9: 108,376,910 (GRCm39)	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933 (GRCm39)	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,986,242 (GRCm39)	Y386*	probably null	Het

Other mutations in Elavl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Elavl4	APN	4	110,063,809 (GRCm39)	missense	probably benign	0.03
IGL01777:Elavl4	APN	4	110,063,858 (GRCm39)	critical splice acceptor site	probably null
IGL02212:Elavl4	APN	4	110,063,609 (GRCm39)	missense	probably damaging	1.00
IGL03053:Elavl4	APN	4	110,108,691 (GRCm39)	missense	possibly damaging	0.89
R1141:Elavl4	UTSW	4	110,108,565 (GRCm39)	nonsense	probably null
R1826:Elavl4	UTSW	4	110,108,489 (GRCm39)	missense	probably damaging	1.00
R5155:Elavl4	UTSW	4	110,149,833 (GRCm39)	missense	probably null	0.22
R5294:Elavl4	UTSW	4	110,068,627 (GRCm39)	missense	possibly damaging	0.90
R5507:Elavl4	UTSW	4	110,070,403 (GRCm39)	missense	probably benign	0.17
R5558:Elavl4	UTSW	4	110,063,800 (GRCm39)	missense	probably benign	0.37
R5927:Elavl4	UTSW	4	110,147,440 (GRCm39)	unclassified	probably benign
R5987:Elavl4	UTSW	4	110,147,841 (GRCm39)	missense	probably benign	0.40
R6376:Elavl4	UTSW	4	110,112,651 (GRCm39)	start gained	probably benign
R6504:Elavl4	UTSW	4	110,112,579 (GRCm39)	splice site	probably null
R6987:Elavl4	UTSW	4	110,108,602 (GRCm39)	missense	possibly damaging	0.70
R7278:Elavl4	UTSW	4	110,068,622 (GRCm39)	critical splice donor site	probably null
R7431:Elavl4	UTSW	4	110,083,830 (GRCm39)	missense	probably damaging	1.00
R7717:Elavl4	UTSW	4	110,063,663 (GRCm39)	missense	probably damaging	1.00
R7979:Elavl4	UTSW	4	110,068,845 (GRCm39)	missense	probably benign	0.12
R8516:Elavl4	UTSW	4	110,108,576 (GRCm39)	missense	probably damaging	1.00
R8963:Elavl4	UTSW	4	110,063,776 (GRCm39)	missense	probably damaging	1.00
R9216:Elavl4	UTSW	4	110,108,546 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAAGTCACGGATGACCTTGACG -3'
(R):5'- TGAACCAGAGTCCCTTCCCCATAG -3'

Sequencing Primer
(F):5'- GTTGTTCACTGCGCCAAAG -3'
(R):5'- AATTCACAGTCTATGGCCGGG -3'

Posted On

2013-04-24