Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Abcg3'

359418

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

041964-MU

Accession Numbers

Essential gene?

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

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104973983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 176 (I176T)

Ref Sequence

ENSEMBL: ENSMUSP00000120179 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

probably benign
Transcript: ENSMUST00000031239
AA Change: I176T

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

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: I176T

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: I176T

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

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: I176T

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: ENSMUST00000197004

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr487	A	T	7: 108,211,994	N178K	probably damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,403,415	C821R	probably benign	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Pold1	G	A	7: 44,541,329	R304C	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,317,165	F345I	probably benign	Het
Zswim2	T	A	2: 83,915,395	R566S	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
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'- GATCACTCTCCATTCCCAGG -3'
(R):5'- GCCTAATTGAAATTCCATTCGCC -3'

Sequencing Primer
(F):5'- CCAGGCTCAACCATTATTAAGATGG -3'
(R):5'- ATTCGCCCTTAAGAATGATGTGG -3'

Posted On

2015-11-11