Mutagenetix > Incidental Mutation

Incidental Mutation 'R5155:Elavl4'

396643

Institutional Source

Beutler Lab

Gene Symbol

Elavl4

Ensembl Gene

ENSMUSG00000028546

Gene Name

ELAV like RNA binding protein 4

Synonyms

Hud

MMRRC Submission

042737-MU

Accession Numbers

Essential gene?

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

Stock #

R5155 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

110060919-110209106 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110149833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 3 (Q3R)

Ref Sequence

ENSEMBL: ENSMUSP00000102212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106600] [ENSMUST00000106601] [ENSMUST00000106603] [ENSMUST00000142722]

AlphaFold

Q61701

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 null
Transcript: ENSMUST00000106601
AA Change: Q3R

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102212
Gene: ENSMUSG00000028546
AA Change: Q3R

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: ENSMUST00000142722

SMART Domains

Protein: ENSMUSP00000121828
Gene: ENSMUSG00000028546

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,482,447 (GRCm39)	V4326A	probably damaging	Het
Actn4	A	G	7: 28,661,442 (GRCm39)		probably null	Het
Adamts8	A	G	9: 30,865,844 (GRCm39)	D464G	probably benign	Het
Adss1	T	C	12: 112,604,642 (GRCm39)	I366T	probably damaging	Het
Alox12e	T	C	11: 70,207,081 (GRCm39)	D575G	possibly damaging	Het
Ankrd44	A	T	1: 54,817,489 (GRCm39)	M73K	probably benign	Het
Ap4e1	A	G	2: 126,905,289 (GRCm39)	T987A	probably benign	Het
Banp	A	C	8: 122,727,759 (GRCm39)	S318R	probably damaging	Het
Bcas1	T	C	2: 170,260,538 (GRCm39)	H47R	probably damaging	Het
Brwd1	G	T	16: 95,803,993 (GRCm39)	S2524*	probably null	Het
Btbd8	T	C	5: 107,638,569 (GRCm39)	I323T	probably damaging	Het
Cand2	T	A	6: 115,769,219 (GRCm39)	D676E	probably benign	Het
Cc2d1a	A	T	8: 84,867,755 (GRCm39)	H224Q	probably benign	Het
Ccdc138	A	T	10: 58,343,394 (GRCm39)	Y83F	probably benign	Het
Ccdc162	A	T	10: 41,429,576 (GRCm39)		probably null	Het
Ccdc162	A	C	10: 41,455,147 (GRCm39)	S396A	probably damaging	Het
Ces1e	A	T	8: 93,928,034 (GRCm39)	*562R	probably null	Het
Clstn2	T	A	9: 97,338,484 (GRCm39)	M892L	probably benign	Het
Crybg3	T	C	16: 59,345,264 (GRCm39)	T2673A	possibly damaging	Het
Cstf3	A	G	2: 104,482,830 (GRCm39)	N326S	probably benign	Het
Cux1	G	A	5: 136,594,295 (GRCm39)		probably benign	Het
Cyb5r4	T	G	9: 86,922,456 (GRCm39)	M155R	probably benign	Het
D130043K22Rik	A	G	13: 25,056,273 (GRCm39)	D535G	probably damaging	Het
Dnah2	G	A	11: 69,313,362 (GRCm39)	P4266S	probably damaging	Het
Dnah7a	T	A	1: 53,682,654 (GRCm39)	N272I	probably benign	Het
Dsg2	A	G	18: 20,731,715 (GRCm39)	Y779C	possibly damaging	Het
Eif4g3	T	A	4: 137,854,054 (GRCm39)	N507K	probably benign	Het
Engase	T	G	11: 118,372,107 (GRCm39)	I133S	probably benign	Het
Ercc5	T	C	1: 44,219,782 (GRCm39)	V1018A	probably damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam8a1	G	A	13: 46,827,038 (GRCm39)	A270T	probably benign	Het
Fhdc1	T	G	3: 84,353,457 (GRCm39)	Q589H	probably benign	Het
Gatm	G	A	2: 122,440,334 (GRCm39)	T35I	probably benign	Het
Gcgr	T	C	11: 120,427,872 (GRCm39)	I271T	probably benign	Het
Gm527	T	A	12: 64,970,381 (GRCm39)	Y239N	probably damaging	Het
H2-Ab1	A	G	17: 34,486,358 (GRCm39)	H139R	possibly damaging	Het
Herc2	G	A	7: 55,877,574 (GRCm39)	R4547Q	possibly damaging	Het
Itga1	A	T	13: 115,171,839 (GRCm39)	S89T	probably benign	Het
Kash5	C	A	7: 44,839,078 (GRCm39)	E53*	probably null	Het
Katnip	A	G	7: 125,471,356 (GRCm39)	T1486A	probably damaging	Het
Lrba	A	G	3: 86,258,607 (GRCm39)	M1365V	probably benign	Het
Lrp1b	A	C	2: 41,618,634 (GRCm39)		probably null	Het
Map1a	G	A	2: 121,132,867 (GRCm39)	A990T	probably damaging	Het
Micall2	C	A	5: 139,695,986 (GRCm39)	L784F	probably damaging	Het
Mmp9	T	C	2: 164,790,986 (GRCm39)		probably null	Het
Mrps7	T	A	11: 115,495,655 (GRCm39)	Y64*	probably null	Het
Mslnl	C	T	17: 25,957,942 (GRCm39)	Q62*	probably null	Het
Nfil3	A	G	13: 53,122,616 (GRCm39)	L96P	probably damaging	Het
Or2f1	A	G	6: 42,721,748 (GRCm39)	Y259C	probably damaging	Het
Phf3	T	C	1: 30,863,457 (GRCm39)	D756G	possibly damaging	Het
Plxnd1	C	T	6: 115,935,949 (GRCm39)		probably null	Het
Prickle4	C	T	17: 48,000,982 (GRCm39)		probably null	Het
Prr9	T	A	3: 92,030,356 (GRCm39)	T95S	possibly damaging	Het
Prrc2a	A	G	17: 35,379,067 (GRCm39)		probably null	Het
Prrt3	A	G	6: 113,474,520 (GRCm39)		probably null	Het
Psme4	A	T	11: 30,826,806 (GRCm39)	Y1775F	probably damaging	Het
Pum2	T	C	12: 8,763,572 (GRCm39)	V243A	possibly damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Rnf8	A	G	17: 29,845,604 (GRCm39)	Y65C	probably damaging	Het
Rph3a	T	C	5: 121,086,833 (GRCm39)	T456A	possibly damaging	Het
Scaper	T	A	9: 55,463,370 (GRCm39)	Q854L	probably null	Het
Sez6l2	T	C	7: 126,561,545 (GRCm39)	S472P	probably damaging	Het
Spsb3	T	C	17: 25,105,969 (GRCm39)		probably benign	Het
Srebf2	A	G	15: 82,080,427 (GRCm39)	D40G	probably damaging	Het
Sspo	A	G	6: 48,437,408 (GRCm39)	N1389D	probably benign	Het
Taf4b	G	T	18: 14,963,152 (GRCm39)	A631S	probably benign	Het
Tcstv1b	T	C	13: 120,635,089 (GRCm39)	S124P	probably benign	Het
Tigd4	G	A	3: 84,501,970 (GRCm39)	V296M	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,737 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,315,194 (GRCm39)		probably null	Het
Vmn2r6	T	G	3: 64,445,935 (GRCm39)	N597H	probably benign	Het
Zfc3h1	T	A	10: 115,248,026 (GRCm39)	S1076R	possibly damaging	Het
Zfp64	T	A	2: 168,748,885 (GRCm39)	Q44L	probably benign	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
R0386:Elavl4	UTSW	4	110,063,902 (GRCm39)	intron	probably benign
R1141:Elavl4	UTSW	4	110,108,565 (GRCm39)	nonsense	probably null
R1826:Elavl4	UTSW	4	110,108,489 (GRCm39)	missense	probably damaging	1.00
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'- AATGCTAAGGGTCAGGGCTTTG -3'
(R):5'- GACAGAGCACGTGCAATTCC -3'

Sequencing Primer
(F):5'- TCAGGGCTTTGGGGCAG -3'
(R):5'- GAGCACGTGCAATTCCAGATTTC -3'

Posted On

2016-06-21