Mutagenetix > Incidental Mutation

Incidental Mutation 'G4846:Gm20518'

519

Institutional Source

Beutler Lab

Gene Symbol

Gm20518

Ensembl Gene

ENSMUSG00000092470

Gene Name

predicted gene 20518

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

G4846 (G3) of strain Worker

Quality Score

Status

Validated

Chromosome

Chromosomal Location

17653141-17709535 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 17654509 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000012152

SMART Domains

Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066127

SMART Domains

Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
transmembrane domain	274	296	N/A	INTRINSIC
low complexity region	298	306	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117082

SMART Domains

Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	5.86e-11	SMART
CLECT	113	264	1.06e-14	SMART
VWC	269	330	1.42e-9	SMART
transmembrane domain	344	366	N/A	INTRINSIC
low complexity region	368	376	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117945

SMART Domains

Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
VWC	267	328	1.42e-9	SMART
transmembrane domain	342	364	N/A	INTRINSIC
low complexity region	366	374	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118960

SMART Domains

Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	25	293	2.31e-106	SMART
low complexity region	307	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135229

Predicted Effect

probably benign
Transcript: ENSMUST00000150068

SMART Domains

Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	559	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232529

Coding Region Coverage

1x: 77.7%
3x: 53.3%

Het Detection Efficiency

29.1%

Validation Efficiency

90% (104/115)

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,184,683 (GRCm39)	I24V	probably benign	Het
Col4a2	T	C	8: 11,458,872 (GRCm39)		probably benign	Homo
Cyp3a13	C	T	5: 137,897,085 (GRCm39)	E410K	possibly damaging	Het
Nbea	T	A	3: 55,994,918 (GRCm39)	D166V	probably damaging	Het
Or5au1	T	A	14: 52,273,434 (GRCm39)	M45L	probably benign	Het
Or6c88	A	T	10: 129,407,039 (GRCm39)	I172F	probably damaging	Het
Plxna4	T	A	6: 32,169,207 (GRCm39)	D1330V	probably damaging	Het
Ppl	A	G	16: 4,905,070 (GRCm39)	S1742P	probably damaging	Homo
Samd4	T	A	14: 47,253,776 (GRCm39)	I80N	probably damaging	Het
Spinkl	T	A	18: 44,302,173 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 86,071,018 (GRCm39)	I1297N	probably damaging	Het

Other mutations in Gm20518

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Gm20518	APN	16	17,676,362 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at base pair 17836738 in the Genbank genomic region NC_000082 for the Car15 gene on chromosome 16 (TATCCCCTAG-> AATCCCCTAG). The mutation is located within intron 4 from the ATG exon, ten nucleotides to the next exon. The Car15 transcript contains 8 total exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Car15 gene encodes a 324 amino acid protein with evidence at the transcript level. The protein belongs to the alpha-carbonic anhydrase family. It is involved in the reversible hydration of carbon dioxide by removing a water molecule from carbonic acid. CAR15 may be secreted. Zinc binding residues are located at amino acids 122, 124, and 147 (Uniprot Q99N23).

Posted On

2010-11-02