Mutagenetix > Incidental Mutation

Incidental Mutation 'R7685:Abcg3'

592997

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7685 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104968215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 251 (L251S)

Ref Sequence

ENSEMBL: ENSMUSP00000031239 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

probably damaging
Transcript: ENSMUST00000031239
AA Change: L251S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: L251S

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: L251S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: L251S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (79/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029I15Rik	C	A	2: 92,383,472	P68Q	probably damaging	Het
Acsbg1	C	T	9: 54,628,559	S53N	unknown	Het
Adamts18	A	G	8: 113,713,223	C913R	probably damaging	Het
Adck5	C	A	15: 76,595,388	Y524*	probably null	Het
Adgrv1	G	T	13: 81,103,324	Q6225K	possibly damaging	Het
Ahr	T	C	12: 35,504,017	N701S	probably damaging	Het
Apc	T	C	18: 34,314,208	C1386R	probably damaging	Het
Bbs1	A	G	19: 4,906,154	S38P	probably benign	Het
Celsr1	G	T	15: 85,978,732	C1366*	probably null	Het
Cep290	A	C	10: 100,540,057	H1424P	probably benign	Het
Clcn3	C	T	8: 60,933,085	R311K	possibly damaging	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Dhx9	A	G	1: 153,458,406	Y1002H	probably damaging	Het
Dnah8	C	T	17: 30,657,973	T533I	probably damaging	Het
Ermard	T	C	17: 15,059,462	S505P	probably benign	Het
Fbxw17	G	A	13: 50,425,644	D166N	probably damaging	Het
Fmo3	T	C	1: 162,958,332	K363R	possibly damaging	Het
Gadd45gip1	A	T	8: 84,832,351	R21W	probably damaging	Het
Galnt4	A	G	10: 99,109,964	N517S	probably benign	Het
Ganc	T	A	2: 120,433,792	W409R	probably damaging	Het
Glrx3	T	C	7: 137,459,191	S185P	probably damaging	Het
Gm49368	T	C	7: 128,113,242	S853P	probably damaging	Het
Gtf3c2	A	C	5: 31,168,267	L443V	probably damaging	Het
Gxylt2	A	T	6: 100,804,528	Q388L	probably benign	Het
Hcar2	C	T	5: 123,865,333	V36M	possibly damaging	Het
Ifit3b	A	T	19: 34,612,555	D377V	possibly damaging	Het
Ints5	A	G	19: 8,896,804	D709G	probably benign	Het
Lyst	A	G	13: 13,669,865	E1880G	probably benign	Het
Mep1a	C	T	17: 43,479,174	S428N	probably benign	Het
Mllt6	T	C	11: 97,676,964	L739P	probably damaging	Het
Mlst8	T	C	17: 24,476,057	Y284C	probably damaging	Het
Mmel1	T	C	4: 154,871,654	M1T	probably null	Het
Muc5ac	C	T	7: 141,809,383	P2144S	unknown	Het
Myh4	T	C	11: 67,240,930	V72A	probably benign	Het
Naa15	T	A	3: 51,469,974		probably null	Het
Nlrc5	A	G	8: 94,521,400		probably null	Het
Nme8	T	A	13: 19,650,975	M514L	probably benign	Het
Nudt9	C	A	5: 104,047,080	S14*	probably null	Het
Olfr538	T	C	7: 140,574,246	F31S	probably damaging	Het
Olfr748	A	T	14: 50,710,758	I143F	possibly damaging	Het
Optn	G	A	2: 5,054,650	T19I	probably benign	Het
Osbpl8	T	A	10: 111,276,509	L495*	probably null	Het
Panx2	T	C	15: 89,067,770	S147P	possibly damaging	Het
Pclo	T	A	5: 14,680,616	V3044D	unknown	Het
Pcnt	T	C	10: 76,422,808	K608E	probably benign	Het
Pde7a	T	A	3: 19,227,745	N447I	probably damaging	Het
Peli2	G	T	14: 48,280,034	C186F	not run	Het
Pgm5	A	G	19: 24,727,851	F433L	probably benign	Het
Plce1	G	A	19: 38,748,433	V1588I	probably benign	Het
Plin4	T	A	17: 56,102,413	H1295L	probably benign	Het
Poli	T	C	18: 70,525,519	E134G	probably benign	Het
Pramef6	T	A	4: 143,897,801	D42V	probably benign	Het
Ptprq	T	A	10: 107,643,978	I1144F	probably damaging	Het
Ptprz1	A	T	6: 23,024,978	T1738S	probably damaging	Het
Pxdc1	A	G	13: 34,652,284	L51P	probably damaging	Het
Rabepk	C	T	2: 34,779,296	G362S	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rhd	T	A	4: 134,884,509		probably null	Het
Rpp14	T	C	14: 8,090,453	S126P	probably damaging	Het
Scn7a	C	T	2: 66,676,192	C1451Y	probably damaging	Het
Sdr39u1	G	A	14: 55,897,734	R251*	probably null	Het
Sephs2	G	T	7: 127,273,334	P196T	possibly damaging	Het
Slc22a16	T	C	10: 40,574,089	Y195H	possibly damaging	Het
Spg11	C	A	2: 122,068,880	V1575F	probably damaging	Het
Sqle	C	T	15: 59,316,041	S66L	probably benign	Het
Tas2r124	T	G	6: 132,755,093	W122G	probably damaging	Het
Tex52	A	T	6: 128,384,958		probably null	Het
Thoc1	T	A	18: 9,993,454	C604*	probably null	Het
Tmc3	T	C	7: 83,597,458	S136P	probably damaging	Het
Tmem212	T	A	3: 27,896,313	T11S	probably benign	Het
Ubn2	A	G	6: 38,491,792	N1147S	probably benign	Het
Uggt2	A	G	14: 119,075,347	I350T	probably damaging	Het
Ust	A	T	10: 8,207,575	Y346N	probably damaging	Het
Vwa8	A	G	14: 79,098,300	T1399A	probably benign	Het
Zc3h18	G	A	8: 122,413,876	R850Q	unknown	Het
Zfp800	C	A	6: 28,244,194	K257N	probably damaging	Het
Zfp985	T	A	4: 147,582,874	D66E	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
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
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
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'- TGTCCTCAAAGTAACCACGG -3'
(R):5'- TGTGGAAAATTCAACCTGAAATGGG -3'

Sequencing Primer
(F):5'- CGGGTATTTAAAGTGAAGAAACCCAC -3'
(R):5'- ATTCAACCTGAAATGGGAACAAAG -3'

Posted On

2019-11-12