Mutagenetix > Incidental Mutation

Incidental Mutation 'R3880:Abcg3'

312775

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

040794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3880 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 104938180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031239] [ENSMUST00000130644]

AlphaFold

Q99P81

Predicted Effect

probably benign
Transcript: ENSMUST00000031239

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	64	207	5.9e-9	PFAM
Pfam:ABC2_membrane	367	578	1.8e-29	PFAM
transmembrane domain	623	642	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130644

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	64	207	7.6e-9	PFAM
transmembrane domain	386	408	N/A	INTRINSIC
Pfam:ABC2_membrane	414	548	1.9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178720

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

92% (35/38)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It lacks several highly conserved residues found in other ATP-binding proteins; this suggests that this protein may not bind ATP and may require dimerization with another subunit to form a functional ATP-transporter. The function of this gene has not yet been determined; however, high levels of expression in the thymus and spleen suggest a potential role in the transport of specific peptides or hydrophobic compounds from lymphocytes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,639,233	W872R	probably damaging	Het
Adgrv1	T	A	13: 81,435,705	Q4627L	probably benign	Het
Armc2	T	C	10: 41,963,725	I415V	possibly damaging	Het
Atp1b1	C	T	1: 164,443,305	R35H	probably benign	Het
Bcas3	A	G	11: 85,371,122	M107V	probably benign	Het
Ccdc43	T	C	11: 102,692,203		probably null	Het
Dtx4	A	C	19: 12,486,456	S321A	probably benign	Het
Enox1	A	T	14: 77,611,386	H379L	possibly damaging	Het
Evx1	A	T	6: 52,313,861	D6V	probably damaging	Het
Fubp1	T	A	3: 152,220,496	V286E	probably damaging	Het
Itgav	T	C	2: 83,768,301	V234A	probably damaging	Het
Khdc3	T	C	9: 73,103,590	S241P	possibly damaging	Het
Lipc	T	A	9: 70,820,518	I16F	probably damaging	Het
Mael	T	C	1: 166,236,868		probably benign	Het
Myo7b	T	G	18: 31,969,514	E1487A	probably damaging	Het
Olfr622	T	G	7: 103,639,624	K172T	probably benign	Het
Osgin1	A	G	8: 119,441,452	H6R	probably benign	Het
Otog	C	T	7: 46,288,021	T1718I	possibly damaging	Het
Otogl	T	C	10: 107,827,704	E1002G	probably damaging	Het
Pkd1l1	T	C	11: 8,961,983	N241S	unknown	Het
Psmd9	C	T	5: 123,234,590		probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Slc6a2	C	A	8: 92,990,218	N337K	probably damaging	Het
Snx19	A	T	9: 30,462,392	Q917L	probably damaging	Het
Srsf3	T	C	17: 29,036,283	V14A	probably damaging	Het
Sspo	G	A	6: 48,494,940	V4729I	probably benign	Het
Syngap1	T	A	17: 26,953,064	I82N	probably damaging	Het
Telo2	A	T	17: 25,106,833	M407K	probably damaging	Het
Thsd7b	G	A	1: 129,595,370	G47D	probably damaging	Het
Tradd	A	T	8: 105,260,655	N6K	possibly damaging	Het
Trim30a	C	A	7: 104,411,189	C460F	probably benign	Het
Trip13	T	C	13: 73,918,478	Y318C	probably damaging	Het
Ubfd1	T	A	7: 122,068,776		probably benign	Het
Uggt1	A	G	1: 36,176,804		probably benign	Het
Wdr7	T	A	18: 63,724,155	C101S	possibly damaging	Het
Zfp345	T	C	2: 150,472,155	I487M	possibly damaging	Het

Other mutations in Abcg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Abcg3	APN	5	104936012	missense	probably benign	0.02
IGL01363:Abcg3	APN	5	104948362	missense	possibly damaging	0.55
IGL02097:Abcg3	APN	5	104961186	missense	possibly damaging	0.77
IGL02554:Abcg3	APN	5	104969452	missense	possibly damaging	0.48
IGL02561:Abcg3	APN	5	104977670	missense	probably benign	0.18
IGL02974:Abcg3	APN	5	104968263	missense	probably damaging	1.00
IGL03058:Abcg3	APN	5	104961246	missense	probably benign	0.00
IGL03153:Abcg3	APN	5	104974765	splice site	probably benign
IGL03377:Abcg3	APN	5	104948390	missense	probably benign	0.01
R0110:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0469:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0510:Abcg3	UTSW	5	104977616	missense	probably damaging	0.97
R0530:Abcg3	UTSW	5	104936054	missense	probably damaging	1.00
R0579:Abcg3	UTSW	5	104974103	missense	probably damaging	1.00
R1237:Abcg3	UTSW	5	104948357	missense	probably damaging	0.96
R1505:Abcg3	UTSW	5	104951565	missense	probably damaging	1.00
R1627:Abcg3	UTSW	5	104936014	missense	probably benign	0.00
R1717:Abcg3	UTSW	5	104963555	nonsense	probably null
R1797:Abcg3	UTSW	5	104939164	missense	possibly damaging	0.66
R1899:Abcg3	UTSW	5	104938199	missense	probably damaging	0.99
R1974:Abcg3	UTSW	5	104963638	missense	probably benign	0.01
R2136:Abcg3	UTSW	5	104966814	missense	probably benign	0.04
R2285:Abcg3	UTSW	5	104939171	missense	probably damaging	1.00
R4242:Abcg3	UTSW	5	104961213	missense	probably benign
R4738:Abcg3	UTSW	5	104973983	missense	probably benign
R5225:Abcg3	UTSW	5	104966783	missense	probably damaging	1.00
R5309:Abcg3	UTSW	5	104936599	missense	possibly damaging	0.53
R5704:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R5705:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R5785:Abcg3	UTSW	5	104968170	missense	probably damaging	0.96
R6155:Abcg3	UTSW	5	104963644	missense	probably benign	0.00
R6309:Abcg3	UTSW	5	104969393	critical splice donor site	probably null
R6814:Abcg3	UTSW	5	104935994	missense	probably benign
R6872:Abcg3	UTSW	5	104935994	missense	probably benign
R6916:Abcg3	UTSW	5	104974735	missense	probably benign	0.16
R7217:Abcg3	UTSW	5	104939228	missense	possibly damaging	0.75
R7310:Abcg3	UTSW	5	104966766	missense	probably benign	0.01
R7343:Abcg3	UTSW	5	104968234	missense	probably benign	0.00
R7401:Abcg3	UTSW	5	104966774	missense	probably damaging	0.99
R7531:Abcg3	UTSW	5	104977641	missense	probably benign
R7685:Abcg3	UTSW	5	104968215	missense	probably damaging	1.00
R7728:Abcg3	UTSW	5	104936078	missense	probably benign	0.00
R7819:Abcg3	UTSW	5	104977728	missense	probably benign	0.05
R7942:Abcg3	UTSW	5	104939161	missense	probably damaging	1.00
R8059:Abcg3	UTSW	5	104953082	critical splice donor site	probably null
R9181:Abcg3	UTSW	5	104974096	missense	probably benign
R9529:Abcg3	UTSW	5	104974107	missense	probably damaging	1.00
R9641:Abcg3	UTSW	5	104936617	missense	probably benign
X0022:Abcg3	UTSW	5	104948416	missense	probably benign	0.02
X0026:Abcg3	UTSW	5	104938189	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCCTAAGAACCCCATTTC -3'
(R):5'- CTGAGAAGACTGTGAACTTGGTAGG -3'

Sequencing Primer
(F):5'- TCTACACATTCTCTACCCCATGAAG -3'
(R):5'- AAGATTGAACTTGAAGATACAGCTG -3'

Posted On

2015-04-30