Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Abcg3'

202361

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

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

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104939164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 534 (S534N)

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: S564N

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: S564N

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

possibly damaging
Transcript: ENSMUST00000130644
AA Change: S534N

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: S534N

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,198,459	K200E	possibly damaging	Het
5830473C10Rik	A	T	5: 90,579,601	E359D	probably damaging	Het
Abcc2	A	G	19: 43,814,786	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,833,987	Q1421H	probably damaging	Het
Acp1	A	G	12: 30,896,114		probably null	Het
Adam12	C	A	7: 133,967,861	R295L	probably benign	Het
Alg1	C	A	16: 5,239,143	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,818,833	W410R	possibly damaging	Het
As3mt	A	G	19: 46,724,934	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,322,194	I289V	probably damaging	Het
Cdk17	A	G	10: 93,208,252	I18V	possibly damaging	Het
Cep131	C	T	11: 120,073,736		probably null	Het
Clca3a2	A	G	3: 144,797,637	Y851H	probably benign	Het
Cnih2	T	C	19: 5,094,286	K66E	probably benign	Het
Cpsf3	T	A	12: 21,306,850	N491K	probably benign	Het
Cux1	C	T	5: 136,275,315	E1253K	probably benign	Het
Dcc	A	C	18: 71,367,161	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,012,807	M200K	probably damaging	Het
Ech1	A	G	7: 28,831,863	Y292C	probably damaging	Het
Edc4	G	T	8: 105,891,085	A1121S	probably benign	Het
Eml6	T	A	11: 29,882,041	I210F	probably benign	Het
Fam135b	T	C	15: 71,452,441	T1226A	probably benign	Het
Flg2	C	T	3: 93,200,976	R104C	probably damaging	Het
Frzb	T	C	2: 80,446,528	I105V	possibly damaging	Het
Gli3	A	G	13: 15,713,512	D504G	probably damaging	Het
Gm42669	A	T	5: 107,507,817	K1161*	probably null	Het
Gm6665	T	C	18: 31,820,133	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,309,763	V148A	probably benign	Het
Hoxc5	T	C	15: 103,014,434	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,169	I59F	probably damaging	Het
Iqch	G	A	9: 63,588,377	P111S	possibly damaging	Het
Itih1	G	T	14: 30,929,899	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,814,833	E632D	probably benign	Het
L2hgdh	C	T	12: 69,699,566	M373I	probably benign	Het
Map3k4	C	T	17: 12,264,019	E604K	probably benign	Het
Mok	T	A	12: 110,808,045	Y420F	probably benign	Het
Nedd1	G	A	10: 92,698,739	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,151,333	M174L	probably benign	Het
Olfr806	A	C	10: 129,738,709	I69M	probably benign	Het
Pag1	T	A	3: 9,693,886	T391S	probably benign	Het
Palm3	A	G	8: 84,028,803	R315G	probably benign	Het
Patj	C	T	4: 98,687,438	R1177W	probably damaging	Het
Pbld2	G	A	10: 63,075,124		probably null	Het
Phldb1	A	T	9: 44,716,545	M81K	probably damaging	Het
Pkn2	A	G	3: 142,809,528	F682L	probably damaging	Het
Plce1	T	C	19: 38,758,948		probably null	Het
Plekha8	T	A	6: 54,640,974	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,982	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,598,151	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,293,202	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743	V52A	probably damaging	Het
Rab27b	A	G	18: 69,989,546	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,340,711		probably null	Het
Rasa3	G	A	8: 13,582,372	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,502,808	R499*	probably null	Het
S1pr4	A	G	10: 81,499,190	M150T	probably damaging	Het
Scube2	T	C	7: 109,831,675	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,950,891	K173R	probably benign	Het
Serpina3m	T	A	12: 104,389,515	I147N	probably damaging	Het
Sh3rf3	G	T	10: 59,086,667	G522*	probably null	Het
Smad1	A	T	8: 79,343,844	V355E	probably damaging	Het
Srsf11	A	G	3: 158,019,428	V211A	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stt3a	C	T	9: 36,743,415		probably null	Het
Syne2	T	C	12: 75,963,783	V2488A	probably benign	Het
Tbc1d23	T	C	16: 57,173,100	T568A	possibly damaging	Het
Tnn	A	C	1: 160,140,688	V378G	probably damaging	Het
Trim50	T	C	5: 135,353,501	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,047,567	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,388,923	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,134,707	T196A	probably benign	Het
Wdr64	G	A	1: 175,812,019	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,462,575	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298	K216*	probably null	Het
Zfp39	T	C	11: 58,900,660	D67G	probably damaging	Het
Zfp40	A	G	17: 23,175,540	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,625,144	V716A	probably benign	Het
Zfp616	T	A	11: 74,085,279	C791*	probably null	Het
Zfp932	G	A	5: 109,996,623		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
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'- GGCAACTTACTGACCATAGGC -3'
(R):5'- GATCTGATCTGAAGTAGAAGGTCAG -3'

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

Posted On

2014-06-23