Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Abcg3'

561529

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 #

R7217 (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 104939228 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 543 (F543L)

Ref Sequence

ENSEMBL: ENSMUSP00000031239 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031239
AA Change: F543L

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: F543L

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: F513L

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: F513L

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

Meta Mutation Damage Score

0.5199

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,646,926	H358N	probably benign	Het
Asnsd1	T	C	1: 53,348,193	T92A	probably damaging	Het
Atg2a	G	T	19: 6,253,441		probably null	Het
Aven	T	A	2: 112,630,846	N327K	possibly damaging	Het
Brd9	T	C	13: 73,938,944	V116A	probably damaging	Het
Car14	A	G	3: 95,899,317	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,509,600	I138T	probably benign	Het
Cmya5	A	G	13: 93,090,430	Y2717H	probably damaging	Het
Eno1b	C	A	18: 48,047,679	T308K	probably damaging	Het
Epha3	T	C	16: 63,552,494	T949A	probably benign	Het
Fcrl5	C	T	3: 87,443,774	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,024	Q664L	unknown	Het
Fsip2	A	T	2: 82,989,068	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 96,946,310	L38P	probably damaging	Het
Gm11127	A	C	17: 36,056,343	M329R	probably benign	Het
Gpr68	A	G	12: 100,878,799	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741	M677K	possibly damaging	Het
Grm7	A	G	6: 111,358,824	Y732C	probably damaging	Het
Hoxb4	A	G	11: 96,319,080	E104G	probably benign	Het
Kat7	A	G	11: 95,291,564	S237P	possibly damaging	Het
Kif13b	T	C	14: 64,773,068	V1272A	probably damaging	Het
Kif20a	T	A	18: 34,629,560	H495Q	probably benign	Het
Lama1	A	T	17: 67,764,673	T852S		Het
Mep1b	T	A	18: 21,093,543	D487E	probably benign	Het
Mki67	T	C	7: 135,704,182	T656A	probably damaging	Het
Mlh3	A	G	12: 85,266,707	W902R	probably benign	Het
Muc16	A	T	9: 18,644,076	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Pkd1l2	A	G	8: 116,995,797	I2424T	probably benign	Het
Prl8a2	A	G	13: 27,351,015	E91G	possibly damaging	Het
Prpf18	A	G	2: 4,645,624	V65A	probably benign	Het
Pxmp2	A	G	5: 110,285,905	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,452,017	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,664,217	R368Q	unknown	Het
Rims2	C	A	15: 39,476,489	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Scn8a	A	T	15: 100,970,227	M318L	probably benign	Het
Slc35b2	A	G	17: 45,565,029	T55A	probably benign	Het
Trnp1	T	C	4: 133,498,105	E118G	possibly damaging	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Wdfy3	A	T	5: 101,901,919	H1680Q	probably damaging	Het
Zfp131	A	G	13: 119,775,841	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,595,248	V66A	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
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'- AAGGACATTTCTGGGCAGCAG -3'
(R):5'- GAACCTTGGCATTGACAAGAG -3'

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

Posted On

2019-06-26