Mutagenetix > Incidental Mutation

Incidental Mutation 'R9641:Abcg3'

725972

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: 0.061) question?

Stock #

R9641 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104936617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 571 (S571A)

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
AA Change: S571A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: S571A

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: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,594,636	F52L	possibly damaging	Het
2010300C02Rik	C	T	1: 37,624,511	A769T	possibly damaging	Het
Abca16	T	C	7: 120,527,085	C1156R	possibly damaging	Het
Abi3	C	A	11: 95,833,677	L259F	unknown	Het
Adam19	A	T	11: 46,136,322	D594V	probably damaging	Het
Adam34	C	T	8: 43,651,039	S523N	probably damaging	Het
Adam6b	G	T	12: 113,490,556	C331F	probably benign	Het
Adamts14	A	T	10: 61,271,050	V97E	probably damaging	Het
Adipor1	T	C	1: 134,428,140	Y226H	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Ankrd53	A	G	6: 83,763,710	D160G	possibly damaging	Het
Ap1m1	A	T	8: 72,249,762	Y94F	probably damaging	Het
Arhgef28	A	C	13: 97,942,475	D1314E	probably benign	Het
Bicc1	A	G	10: 71,027,942	I90T	probably benign	Het
Celf6	A	G	9: 59,578,550	D58G	probably damaging	Het
Cfap74	T	C	4: 155,464,597	S38P	unknown	Het
Cps1	A	G	1: 67,195,183	I910V	probably benign	Het
Crybg2	C	T	4: 134,089,309	Q1353*	probably null	Het
Cyp4f39	T	C	17: 32,487,008	Y358H	probably damaging	Het
Dcp1a	T	A	14: 30,519,175	I314N	probably damaging	Het
Dgki	A	C	6: 37,149,554	W164G	probably damaging	Het
Dnah8	A	G	17: 30,713,055	I1466V	probably benign	Het
Efcab6	T	A	15: 83,879,475	R1219W	probably damaging	Het
Faap24	A	T	7: 35,395,069	F102Y	probably damaging	Het
Fam186a	T	C	15: 99,940,363	T2667A	probably benign	Het
Frem1	C	T	4: 82,959,416	G1308D	probably damaging	Het
Hectd1	T	C	12: 51,769,264	T1347A	probably benign	Het
Hipk3	A	T	2: 104,437,031	H620Q	probably benign	Het
Hpd	A	G	5: 123,171,989	S391P	probably benign	Het
Ino80	A	G	2: 119,445,484	V437A	probably benign	Het
Itgax	G	T	7: 128,141,980	G785C	probably damaging	Het
Kcnk18	C	T	19: 59,234,834	T137I	probably damaging	Het
Kif16b	A	G	2: 142,700,669	F236L	probably benign	Het
Lamb1	T	C	12: 31,287,458	M396T	probably damaging	Het
Lrfn5	C	A	12: 61,839,754	N109K	probably damaging	Het
Lrrc15	T	A	16: 30,274,188	N111I	probably damaging	Het
Lrrk2	A	T	15: 91,787,048	I2011F	possibly damaging	Het
Lsr	A	G	7: 30,958,860	I336T	probably damaging	Het
Mettl21e	T	A	1: 44,211,191	R18S	probably benign	Het
Mrpl22	T	C	11: 58,177,221	L115P	probably damaging	Het
N4bp2	T	A	5: 65,790,692	S222T	probably benign	Het
Nat2	A	G	8: 67,501,870	T211A	probably benign	Het
Nbeal1	T	A	1: 60,311,088	I2432N	probably damaging	Het
Neb	A	G	2: 52,222,771	I1158T		Het
Nrip3	C	T	7: 109,763,586	E164K	probably damaging	Het
Obox6	G	A	7: 15,834,817	Q45*	probably null	Het
Ola1	T	C	2: 73,203,440	N44D	probably benign	Het
Olfr1167	A	T	2: 88,149,911	I36N	possibly damaging	Het
Olfr1375	C	T	11: 51,048,380	T91M	probably benign	Het
Olfr1386	T	C	11: 49,470,682	F177S	probably damaging	Het
Olfr1465	A	T	19: 13,313,736	M183K	probably damaging	Het
Olfr510	A	T	7: 108,668,309	N298Y	probably damaging	Het
Olfr522	A	G	7: 140,162,858	F31L	probably benign	Het
Olfr916	T	A	9: 38,657,619	M258L	probably benign	Het
Pde10a	A	G	17: 8,978,984	K753R		Het
Phldb1	T	C	9: 44,716,542	D202G	probably damaging	Het
Pik3cb	T	C	9: 99,073,736	N376S	probably benign	Het
Plekhh2	A	G	17: 84,566,702	N472D	probably damaging	Het
Ppp4r4	T	A	12: 103,601,552	F708Y	probably benign	Het
Rnf157	A	G	11: 116,412,750	V12A	probably benign	Het
Saa3	T	C	7: 46,715,070	I11V	probably benign	Het
Sall2	T	C	14: 52,313,425	E771G	probably damaging	Het
Sar1b	C	T	11: 51,779,746	T39I	probably damaging	Het
Scn10a	A	T	9: 119,616,803	L1428Q	possibly damaging	Het
Sema3f	A	G	9: 107,688,255	I213T	unknown	Het
Serpina3m	C	T	12: 104,393,826	Q386*	probably null	Het
Sh3gl3	G	A	7: 82,260,162	G26R	probably damaging	Het
Shq1	T	C	6: 100,573,672	E435G	probably damaging	Het
Sidt2	G	T	9: 45,953,197	A78E	probably benign	Het
Sin3b	A	G	8: 72,750,559	Y818C	probably damaging	Het
Smarca2	C	T	19: 26,679,098	L825F	possibly damaging	Het
Srgn	T	A	10: 62,495,105	M74L	probably benign	Het
Tbc1d22b	A	C	17: 29,594,773	D360A	possibly damaging	Het
Tbx4	A	G	11: 85,912,302	R335G	probably damaging	Het
Tmem144	T	C	3: 79,826,893	N168D	probably benign	Het
Trip11	G	A	12: 101,893,698	Q307*	probably null	Het
Ttyh2	T	C	11: 114,707,690	Y296H	probably damaging	Het
Vmn1r236	G	T	17: 21,286,781	V54F	probably benign	Het
Xrra1	A	C	7: 99,911,881	H443P	probably benign	Het
Zc3h12a	T	C	4: 125,121,059	T211A	probably damaging	Het
Zfp386	T	G	12: 116,059,710	D349E	probably benign	Het
Zkscan16	T	A	4: 58,956,577	H286Q	probably benign	Het
Znrf2	C	T	6: 54,884,803	P233L	probably 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
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
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'- ATGCTGCTCTCTTCAACAGG -3'
(R):5'- CAGGAATAGACTCCCAGCTG -3'

Sequencing Primer
(F):5'- CTCTTCAACAGGCAAAAGCATGTTTC -3'
(R):5'- CTGGCATTCCCCTATGTTGGG -3'

Posted On

2022-09-12