Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02860:Elavl2'

362120

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elavl2

Ensembl Gene

ENSMUSG00000008489

Gene Name

ELAV like RNA binding protein 1

Synonyms

mel-N1, Hub

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

IGL02860

Quality Score

Status

Chromosome

Chromosomal Location

91139000-91289022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91149190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 174 (D174G)

Ref Sequence

ENSEMBL: ENSMUSP00000102728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008633] [ENSMUST00000102799] [ENSMUST00000107109] [ENSMUST00000107110] [ENSMUST00000107111] [ENSMUST00000107116] [ENSMUST00000107118] [ENSMUST00000107124] [ENSMUST00000107120] [ENSMUST00000177109]

AlphaFold

Q60899

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008633
AA Change: D174G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: D174G

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	278	351	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102799
AA Change: D188G

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: D188G

Domain	Start	End	E-Value	Type
RRM	54	127	1.44e-24	SMART
RRM	140	215	2.35e-20	SMART
RRM	291	364	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107109
AA Change: D174G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: D174G

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	277	350	5.15e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107110
AA Change: D174G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: D174G

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	265	338	5.15e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107111
AA Change: D174G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: D174G

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	264	337	5.15e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107116
AA Change: D203G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: D203G

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	307	380	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107118
AA Change: D203G

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: D203G

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	294	367	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107124
AA Change: D174G

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: D174G

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART
RRM	126	201	2.35e-20	SMART
RRM	277	350	5.15e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107120
AA Change: D203G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: D203G

Domain	Start	End	E-Value	Type
RRM	69	142	1.44e-24	SMART
RRM	155	230	2.35e-20	SMART
RRM	306	379	5.15e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176469

Predicted Effect

probably benign
Transcript: ENSMUST00000177109

SMART Domains

Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489

Domain	Start	End	E-Value	Type
RRM	40	113	1.44e-24	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	T	9: 90,073,915 (GRCm39)	M832L	probably benign	Het
Cars1	A	T	7: 143,140,158 (GRCm39)	D99E	probably damaging	Het
Ccdc112	A	G	18: 46,420,509 (GRCm39)	F414L	probably benign	Het
Chst15	C	T	7: 131,870,831 (GRCm39)	V235I	probably benign	Het
Dysf	G	T	6: 84,167,880 (GRCm39)		probably null	Het
Gapdhs	T	A	7: 30,429,308 (GRCm39)		probably null	Het
Gnb1l	G	A	16: 18,371,285 (GRCm39)	G259R	probably damaging	Het
Ighv9-2	T	G	12: 114,072,857 (GRCm39)	I39L	possibly damaging	Het
Kntc1	T	A	5: 123,907,936 (GRCm39)	N474K	possibly damaging	Het
Lrrc8c	T	C	5: 105,727,481 (GRCm39)		probably benign	Het
Lyn	C	T	4: 3,745,594 (GRCm39)	A131V	possibly damaging	Het
Mindy2	T	C	9: 70,563,826 (GRCm39)	E168G	probably damaging	Het
Morc2a	T	C	11: 3,611,821 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nell1	A	T	7: 50,498,233 (GRCm39)	I597F	probably damaging	Het
Nudt12	T	A	17: 59,317,430 (GRCm39)	R72S	probably benign	Het
Pan2	C	T	10: 128,146,604 (GRCm39)	R414*	probably null	Het
Rb1	T	C	14: 73,443,452 (GRCm39)	R768G	probably damaging	Het
Rps6ka2	A	G	17: 7,550,255 (GRCm39)	E440G	possibly damaging	Het
Serpinb3a	C	T	1: 106,977,183 (GRCm39)		probably benign	Het
Stx8	C	A	11: 67,875,391 (GRCm39)	T72K	probably damaging	Het
Tecrl	A	G	5: 83,502,844 (GRCm39)	F2L	probably benign	Het
Tmem263	C	T	10: 84,950,416 (GRCm39)	T69I	probably damaging	Het
Ttc39b	T	C	4: 83,181,983 (GRCm39)	N49D	probably benign	Het
Ttn	A	G	2: 76,547,359 (GRCm39)	L32229P	probably damaging	Het
Zfp358	T	C	8: 3,546,074 (GRCm39)	F219L	probably damaging	Het

Other mutations in Elavl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Elavl2	APN	4	91,152,309 (GRCm39)	missense	probably damaging	1.00
IGL01886:Elavl2	APN	4	91,152,330 (GRCm39)	missense	probably damaging	1.00
IGL02016:Elavl2	APN	4	91,149,172 (GRCm39)	missense	probably damaging	1.00
IGL02024:Elavl2	APN	4	91,141,776 (GRCm39)	missense	probably benign	0.02
R0458:Elavl2	UTSW	4	91,197,104 (GRCm39)	splice site	probably benign
R1294:Elavl2	UTSW	4	91,199,826 (GRCm39)	missense	probably benign	0.02
R1778:Elavl2	UTSW	4	91,141,715 (GRCm39)	missense	probably damaging	1.00
R2063:Elavl2	UTSW	4	91,141,687 (GRCm39)	missense	possibly damaging	0.81
R2190:Elavl2	UTSW	4	91,152,331 (GRCm39)	missense	probably benign	0.22
R3773:Elavl2	UTSW	4	91,152,325 (GRCm39)	missense	probably damaging	1.00
R4473:Elavl2	UTSW	4	91,149,246 (GRCm39)	splice site	probably null
R4784:Elavl2	UTSW	4	91,142,379 (GRCm39)	missense	probably null	0.97
R4911:Elavl2	UTSW	4	91,196,915 (GRCm39)	missense	possibly damaging	0.91
R5396:Elavl2	UTSW	4	91,149,055 (GRCm39)	missense	probably damaging	1.00
R6708:Elavl2	UTSW	4	91,141,634 (GRCm39)	missense	probably damaging	1.00
R6882:Elavl2	UTSW	4	91,196,952 (GRCm39)	missense	probably damaging	1.00
R7592:Elavl2	UTSW	4	91,199,808 (GRCm39)	critical splice donor site	probably null
R7849:Elavl2	UTSW	4	91,260,280 (GRCm39)	unclassified	probably benign
R9051:Elavl2	UTSW	4	91,199,847 (GRCm39)	missense	probably benign	0.36
R9381:Elavl2	UTSW	4	91,197,009 (GRCm39)	missense	probably benign
R9727:Elavl2	UTSW	4	91,169,495 (GRCm39)	missense	probably benign	0.03

Posted On

2015-12-18