Mutagenetix > Incidental Mutation

Incidental Mutation 'R5225:Abcg3'

402547

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

042798-MU

Accession Numbers

Essential gene?

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

Stock #

R5225 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104966783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 289 (D289E)

Ref Sequence

ENSEMBL: ENSMUSP00000120179 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

probably damaging
Transcript: ENSMUST00000031239
AA Change: D289E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: D289E

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: D289E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: D289E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,008,007	R465*	probably null	Het
Ablim2	G	T	5: 35,866,771		probably null	Het
Acp1	A	T	12: 30,905,079	V36D	probably benign	Het
Adgrb1	T	A	15: 74,577,499		probably benign	Het
Akap6	G	A	12: 52,886,546	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,725,515		probably benign	Het
Bmp1	G	A	14: 70,480,165	R789W	probably damaging	Het
Cfhr2	T	A	1: 139,821,782	Y154F	possibly damaging	Het
Cilp2	T	C	8: 69,883,365	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,677,233	K513*	probably null	Het
Dennd4a	G	T	9: 64,888,928	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,836,267	S542T	probably benign	Het
Dmbt1	A	T	7: 131,094,735	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,703,923	E2761V	possibly damaging	Het
F11	T	C	8: 45,255,304	T40A	probably benign	Het
Fam227a	T	C	15: 79,636,735	D296G	possibly damaging	Het
Fance	C	T	17: 28,315,615		probably benign	Het
Gaa	A	G	11: 119,276,843	D149G	probably damaging	Het
Gapt	A	G	13: 110,353,988	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,902,478	N202D	probably damaging	Het
Gm16432	A	T	1: 178,148,908		probably benign	Het
Gm7535	T	C	17: 17,911,547		probably benign	Het
Gm973	T	A	1: 59,562,700	M491K	probably benign	Het
Gmnc	A	G	16: 26,963,945	V27A	probably benign	Het
Kif27	T	C	13: 58,293,101	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Lime1	T	A	2: 181,382,847	M98K	probably benign	Het
Lrp1	C	A	10: 127,556,096	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,858,735	S669N	probably benign	Het
Mmel1	A	G	4: 154,891,999	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,549,328	L206V	probably damaging	Het
Nagpa	C	T	16: 5,203,732	A52T	probably benign	Het
Olfr1264	T	G	2: 90,021,184	D294A	probably benign	Het
Olfr98	A	G	17: 37,263,028	V212A	probably benign	Het
Orai2	A	G	5: 136,161,501	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,525,227	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,303,154	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,479,958	V657A	probably benign	Het
Prdm15	G	T	16: 97,808,675	H590N	probably damaging	Het
Psg18	T	C	7: 18,345,949	I442M	probably damaging	Het
Pygm	C	A	19: 6,389,464	D279E	probably benign	Het
Rrn3	T	A	16: 13,792,934		probably null	Het
Sass6	T	C	3: 116,614,053	S273P	possibly damaging	Het
Schip1	A	G	3: 68,494,937	M116V	probably benign	Het
Sdc3	G	A	4: 130,818,776	V55I	unknown	Het
Serpinb8	T	A	1: 107,597,471	M1K	probably null	Het
Slc24a5	T	C	2: 125,085,819	I346T	probably damaging	Het
Slc35f3	T	A	8: 126,391,107	I335N	probably damaging	Het
Snapc2	T	A	8: 4,255,299	V147E	probably damaging	Het
Snx2	T	C	18: 53,189,712	S56P	possibly damaging	Het
Sptbn5	A	G	2: 120,085,331		probably benign	Het
Stk19	A	T	17: 34,821,424		probably benign	Het
Sulf1	A	G	1: 12,841,478	E692G	probably benign	Het
Tet1	C	T	10: 62,838,671	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406	T1639A	probably benign	Het
Tmem135	G	T	7: 89,196,127	Y165*	probably null	Het
Tmprss6	T	C	15: 78,452,507	T398A	probably damaging	Het
Ube4a	C	T	9: 44,939,960		probably null	Het
Vmn1r227	T	C	17: 20,735,237		noncoding transcript	Het
Wdhd1	T	C	14: 47,250,816	S745G	probably benign	Het
Xylt1	A	G	7: 117,592,036	H353R	probably damaging	Het
Zfp788	A	G	7: 41,649,556	T539A	probably benign	Het
Zfp866	A	T	8: 69,765,441	F510I	possibly 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
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'- TCATAAGCACCCGGAACTG -3'
(R):5'- AATTTGGGCTGAGTTCAAGTGC -3'

Sequencing Primer
(F):5'- ACAAAGTCTACCAGCTAATTTTAGG -3'
(R):5'- GGCCTGCATTCTTTGTAG -3'

Posted On

2016-07-22