Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Adarb1'

284785

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adarb1

Ensembl Gene

ENSMUSG00000020262

Gene Name

adenosine deaminase, RNA-specific, B1

Synonyms

RED1, D10Bwg0447e, ADAR2, 1700057H01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

77290726-77418270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77322301 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 104 (V104E)

Ref Sequence

ENSEMBL: ENSMUSP00000101046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020496] [ENSMUST00000098374] [ENSMUST00000105404] [ENSMUST00000105406] [ENSMUST00000126073] [ENSMUST00000144547]

AlphaFold

Q91ZS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020496
AA Change: V104E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020496
Gene: ENSMUSG00000020262
AA Change: V104E

Domain	Start	End	E-Value	Type
DSRM	79	143	1.9e-22	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	5.8e-21	SMART
ADEAMc	322	698	2.1e-196	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098374
AA Change: V104E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095976
Gene: ENSMUSG00000020262
AA Change: V104E

Domain	Start	End	E-Value	Type
DSRM	79	143	3.31e-20	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	9.87e-19	SMART
ADEAMc	322	708	1.32e-191	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105404

Predicted Effect

probably damaging
Transcript: ENSMUST00000105406
AA Change: V104E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101046
Gene: ENSMUSG00000020262
AA Change: V104E

Domain	Start	End	E-Value	Type
DSRM	79	143	3.31e-20	SMART
low complexity region	192	213	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC
DSRM	236	297	9.87e-19	SMART
ADEAMc	322	708	1.32e-191	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126073

Predicted Effect

probably benign
Transcript: ENSMUST00000144547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156583

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in progressive seizure susceptibility and death within 20 days of age. Mice homozygous for a conditional allele activated in neurons exhibit motor neuron degeneration, motor function abnormalities, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,574,724		probably benign	Het
A330008L17Rik	T	A	8: 99,421,758		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,027,256	L17P	unknown	Het
Abca14	A	T	7: 120,294,175	M1283L	probably benign	Het
Ano1	T	A	7: 144,655,708	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 101,039,840	S498G	probably benign	Het
Bdp1	A	G	13: 100,041,535	V1942A	probably benign	Het
Carf	T	A	1: 60,148,081	D579E	probably damaging	Het
Cltc	A	T	11: 86,732,586	S200R	probably benign	Het
Cpeb1	T	C	7: 81,372,057	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ehd3	T	A	17: 73,820,546	L158H	probably damaging	Het
Etfa	C	A	9: 55,464,811	G289W	probably damaging	Het
Fndc3c1	G	A	X: 106,425,829	T1029I	probably benign	Het
Gipr	C	A	7: 19,157,546	G402V	possibly damaging	Het
Gm5724	T	A	6: 141,723,185	D507V	possibly damaging	Het
Hacd1	C	T	2: 14,026,947	V242M	probably damaging	Het
Hecw1	A	G	13: 14,300,393	L520P	probably damaging	Het
Ibtk	A	T	9: 85,714,179		probably benign	Het
Igkv16-104	A	C	6: 68,425,794	I24L	probably benign	Het
Kcnh8	A	T	17: 52,877,911	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,610,360	V285M	probably benign	Het
Mindy4	A	G	6: 55,216,651	R110G	possibly damaging	Het
Morn1	C	T	4: 155,092,319	H100Y	probably damaging	Het
Naip6	A	T	13: 100,316,059	S165T	probably damaging	Het
Olfr1110	T	G	2: 87,135,505	K272T	probably damaging	Het
Olfr538	A	T	7: 140,574,557	R135*	probably null	Het
Prx	G	T	7: 27,518,912	R946M	probably damaging	Het
Ptchd1	A	G	X: 155,573,710	V833A	possibly damaging	Het
Rgl2	A	G	17: 33,935,189	D481G	probably benign	Het
Serpinb3a	A	G	1: 107,048,488		probably null	Het
Shtn1	T	C	19: 58,999,886		probably benign	Het
Sult1b1	C	T	5: 87,535,090		probably benign	Het
Tbl3	T	C	17: 24,704,132		probably benign	Het
Trappc9	C	T	15: 73,012,882	W416*	probably null	Het
Ubr4	G	A	4: 139,461,827		probably null	Het
Ubr4	T	C	4: 139,428,583	Y2240H	possibly damaging	Het
Vmn2r76	A	C	7: 86,229,930	F387L	probably benign	Het
Vps8	G	A	16: 21,517,285	C729Y	probably damaging	Het

Other mutations in Adarb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Adarb1	APN	10	77322490	missense	probably damaging	1.00
IGL01996:Adarb1	APN	10	77322217	missense	probably damaging	1.00
IGL02173:Adarb1	APN	10	77321825	missense	probably damaging	1.00
IGL02399:Adarb1	APN	10	77295754	missense	probably benign	0.02
IGL02699:Adarb1	APN	10	77322019	missense	probably benign
IGL02867:Adarb1	APN	10	77313541	missense	probably benign	0.01
IGL02889:Adarb1	APN	10	77313541	missense	probably benign	0.01
IGL03133:Adarb1	APN	10	77325896	start gained	probably benign
R1806:Adarb1	UTSW	10	77322265	missense	probably damaging	0.98
R1834:Adarb1	UTSW	10	77317231	splice site	probably benign
R2174:Adarb1	UTSW	10	77295798	missense	probably benign	0.35
R2233:Adarb1	UTSW	10	77317349	missense	probably damaging	1.00
R2234:Adarb1	UTSW	10	77317349	missense	probably damaging	1.00
R2908:Adarb1	UTSW	10	77313403	critical splice donor site	probably null
R3106:Adarb1	UTSW	10	77321757	missense	probably damaging	1.00
R5104:Adarb1	UTSW	10	77322287	missense	probably damaging	1.00
R5134:Adarb1	UTSW	10	77325845	intron	probably benign
R5497:Adarb1	UTSW	10	77325889	missense	probably damaging	0.96
R5869:Adarb1	UTSW	10	77325616	intron	probably benign
R6168:Adarb1	UTSW	10	77322319	missense	probably damaging	1.00
R7372:Adarb1	UTSW	10	77295878	critical splice acceptor site	probably null
R7575:Adarb1	UTSW	10	77303295	missense	probably damaging	0.99
R7885:Adarb1	UTSW	10	77295708	missense	possibly damaging	0.50
R9227:Adarb1	UTSW	10	77321792	missense	probably damaging	1.00
R9230:Adarb1	UTSW	10	77321792	missense	probably damaging	1.00
R9350:Adarb1	UTSW	10	77322433	missense	possibly damaging	0.91
R9457:Adarb1	UTSW	10	77322148	missense	possibly damaging	0.46
R9688:Adarb1	UTSW	10	77311265	missense	probably damaging	1.00
R9716:Adarb1	UTSW	10	77295705	missense	possibly damaging	0.70

Posted On

2015-04-16