Mutagenetix > Incidental Mutation

Incidental Mutation 'R7942:Abcg3'

649101

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

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7942 (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 104939161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 565 (I565T)

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: I565T

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

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: I565T

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: I535T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: I535T

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: 98.9%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	A	G	8: 11,655,615	I164T	unknown	Het
Adamts8	G	A	9: 30,953,482	C423Y	probably damaging	Het
Adamts8	G	A	9: 30,958,913		probably null	Het
Ahctf1	A	C	1: 179,786,095	V490G	possibly damaging	Het
Akap13	A	G	7: 75,611,470	T478A	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ano9	T	C	7: 141,104,076	S559G	probably damaging	Het
Aox2	A	G	1: 58,337,431	T924A	probably damaging	Het
Atp13a1	A	G	8: 69,807,220	E1126G	probably damaging	Het
Bcan	A	G	3: 87,993,075	V617A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cldnd1	A	T	16: 58,729,715	N87I	possibly damaging	Het
Enpp2	A	T	15: 54,845,879	V784E	probably damaging	Het
Eps8	T	A	6: 137,530,577	Y51F	possibly damaging	Het
Fam184b	T	C	5: 45,584,253	K212R	probably benign	Het
Fbn1	A	C	2: 125,412,786	C186G	possibly damaging	Het
Fsip1	G	A	2: 118,136,611	T411I	probably benign	Het
Glyr1	T	C	16: 5,018,921	T460A	probably benign	Het
Gm19410	G	A	8: 35,771,786	G70R	probably damaging	Het
Gna15	G	A	10: 81,523,911	T15I	probably damaging	Het
Heg1	T	C	16: 33,751,200	C1198R	probably damaging	Het
Hoxd1	A	G	2: 74,764,160	Y253C	probably damaging	Het
Il17re	G	T	6: 113,466,150	Q316H	probably damaging	Het
Jakmip1	C	A	5: 37,173,838	P621T	probably benign	Het
Krt71	T	C	15: 101,735,459	Y448C	probably damaging	Het
Lgals8	A	G	13: 12,453,256		probably null	Het
March11	A	G	15: 26,409,419	*401W	probably null	Het
Mctp1	A	T	13: 76,641,710		probably null	Het
Mms19	C	A	19: 41,955,961	V310F	probably damaging	Het
Mycbp2	A	T	14: 103,155,238	F3296I	probably damaging	Het
Myo7b	A	T	18: 32,013,369	I121N	probably damaging	Het
Nr0b2	T	C	4: 133,553,536	S38P	probably benign	Het
Nudt16l1	T	A	16: 4,939,379	M52K	probably benign	Het
Olfr1079	T	C	2: 86,538,222	N229S	probably benign	Het
Olfr399	A	G	11: 74,054,228	I177T	probably damaging	Het
Polr3gl	A	T	3: 96,582,236		probably null	Het
Ptch2	T	A	4: 117,106,001	F228L	probably benign	Het
Slc35d1	A	G	4: 103,213,163		probably null	Het
Slc41a1	G	A	1: 131,840,897	V198I	probably damaging	Het
Slc5a7	T	C	17: 54,276,681	D527G	possibly damaging	Het
Spag16	G	T	1: 69,827,088	A29S	probably benign	Het
Speer4f2	T	A	5: 17,377,632	D284E	unknown	Het
Sspo	A	G	6: 48,488,500		probably null	Het
Tdpoz1	T	C	3: 93,671,210	K89R	possibly damaging	Het
Tek	C	T	4: 94,851,874		probably null	Het
Tet3	C	T	6: 83,376,974	V902M	probably damaging	Het
Tpcn2	C	T	7: 145,257,191	V590M	probably damaging	Het
Trcg1	T	C	9: 57,242,216	V357A	probably benign	Het
Tspan18	A	G	2: 93,210,858	V133A	probably benign	Het
Unc5b	A	T	10: 60,777,543	W305R	probably damaging	Het
Vmn2r95	T	A	17: 18,440,267	L314I	possibly damaging	Het
Wdsub1	G	A	2: 59,876,717	A178V	probably damaging	Het
Zfp407	A	G	18: 84,559,629	S1120P	probably benign	Het
Zfp57	T	C	17: 37,009,674	F140S	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
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'- GGCAACTTACTGACCATAGGC -3'
(R):5'- GAACCTTGGCATTGACAAGAG -3'

Sequencing Primer
(F):5'- CTTACTGACCATAGGCTAAGTAAAAC -3'
(R):5'- CCTTGGCATTGACAAGAGTAAAGAC -3'

Posted On

2020-09-15