Mutagenetix > Incidental Mutation

Incidental Mutation 'R1237:Abcg3'

152454

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

039304-MU

Accession Numbers

Essential gene?

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

Stock #

R1237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104948357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 500 (T500A)

Ref Sequence

ENSEMBL: ENSMUSP00000120179 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031239
AA Change: T530A

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: T530A

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 damaging
Transcript: ENSMUST00000130644
AA Change: T500A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: T500A

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

Meta Mutation Damage Score

0.2108

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amz1	A	T	5: 140,741,284	M1L	probably damaging	Het
Angptl1	T	A	1: 156,858,584	N413K	probably damaging	Het
Ankrd13b	T	C	11: 77,474,574	T70A	probably damaging	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccdc174	C	T	6: 91,890,787		probably benign	Het
Ccnc	T	A	4: 21,730,457	F31L	probably benign	Het
Celsr1	A	C	15: 85,903,974	S2692R	probably benign	Het
Chd1l	C	T	3: 97,582,731	E503K	probably benign	Het
Ddhd1	A	T	14: 45,601,650	D65E	probably benign	Het
Dync1h1	A	G	12: 110,665,959	N4504S	probably benign	Het
Enthd1	A	G	15: 80,534,598	S167P	probably damaging	Het
Fat1	A	T	8: 45,044,279	Y4267F	probably damaging	Het
Hectd4	C	T	5: 121,321,507	A813V	possibly damaging	Het
Ibtk	T	C	9: 85,720,748	S735G	probably benign	Het
Itga4	A	G	2: 79,279,146	I230V	probably null	Het
Kcnh8	A	T	17: 52,893,960	Q474L	probably damaging	Het
Kcnh8	G	T	17: 52,893,961	Q474H	probably damaging	Het
Mib1	C	T	18: 10,768,149	T466I	probably damaging	Het
Olfr101	T	A	17: 37,300,265	R52S	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr167	A	C	16: 19,515,625	Y4D	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Prdx6b	A	G	2: 80,293,176	I110V	probably benign	Het
Prf1	A	C	10: 61,303,649	D462A	probably benign	Het
Rps6ka5	T	C	12: 100,575,705	D391G	possibly damaging	Het
Scn7a	A	T	2: 66,680,295	N1254K	probably damaging	Het
Skor2	A	T	18: 76,876,132	K924*	probably null	Het
Slc22a21	A	G	11: 53,979,772	I29T	probably benign	Het
Tas2r140	T	C	6: 133,055,208	T196A	probably benign	Het
Thrap3	A	G	4: 126,180,069	S295P	probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,582,989		probably benign	Het
Ubtd2	C	T	11: 32,516,125	R115W	probably damaging	Het
Unc93b1	A	G	19: 3,935,228	E12G	possibly damaging	Het
Vgll3	T	A	16: 65,839,573	Y203*	probably null	Het
Vmn1r212	G	A	13: 22,883,468	Q232*	probably null	Het
Vmn2r107	T	A	17: 20,356,685	L315*	probably null	Het
Vmn2r84	T	A	10: 130,387,856		probably null	Het
Washc5	A	G	15: 59,338,908		probably benign	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
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
R3880:Abcg3	UTSW	5	104938180	splice site	probably benign
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'- AGAACCCACTAGAAACGGCCTGTTA -3'
(R):5'- AGACCCAGAGTAGTTGGATGGCTT -3'

Sequencing Primer
(F):5'- TACTGACATTGGAGCGATAGTCAC -3'
(R):5'- CATCATGGTGCTGGCCTATT -3'

Posted On

2014-01-29