Mutagenetix > Incidental Mutation

Incidental Mutation 'R1717:Abcg3'

191104

Institutional Source

Beutler Lab

Gene Symbol

Abcg3

Ensembl Gene

ENSMUSG00000029299

Gene Name

ATP binding cassette subfamily G member 3

Synonyms

Mxr2, Abcp2

MMRRC Submission

039750-MU

Accession Numbers

Essential gene?

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

Stock #

R1717 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 104963555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 349 (Q349*)

Ref Sequence

ENSEMBL: ENSMUSP00000120179 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

probably null
Transcript: ENSMUST00000031239
AA Change: Q349*

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: Q349*

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 null
Transcript: ENSMUST00000130644
AA Change: Q349*

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: Q349*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (81/83)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,664	D616G	probably damaging	Het
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,793,779		probably null	Het
4930583I09Rik	T	C	17: 64,834,449	N53S	unknown	Het
4933434E20Rik	T	A	3: 90,056,237	S67T	probably benign	Het
9230019H11Rik	A	T	10: 3,125,050		noncoding transcript	Het
Abcc8	T	C	7: 46,115,815	I1127V	possibly damaging	Het
Adam2	A	G	14: 66,068,558	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Akap11	C	A	14: 78,513,348	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,293,671	N517I	probably damaging	Het
Aldh4a1	G	A	4: 139,633,994		probably null	Het
Aldh4a1	A	T	4: 139,638,529	H277L	possibly damaging	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Arhgef7	C	A	8: 11,808,712		probably benign	Het
Arvcf	A	G	16: 18,401,569	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,528,797	R521W	probably damaging	Het
Casp16-ps	A	G	17: 23,552,050	I127T	possibly damaging	Het
Cd163	A	G	6: 124,329,588		probably benign	Het
Cdh8	A	T	8: 99,030,705	S754T	probably damaging	Het
Cel	A	G	2: 28,556,777	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,657,320	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,948,392	M989V	unknown	Het
Cpsf1	A	T	15: 76,602,566	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,216,692	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 95,455,808		probably null	Het
Dact2	A	T	17: 14,197,913	W177R	probably benign	Het
Ddx10	A	G	9: 53,159,953	V680A	probably benign	Het
Eif5	T	A	12: 111,542,217	D215E	probably benign	Het
Evpl	C	T	11: 116,225,492	A817T	probably benign	Het
Fmo6	T	A	1: 162,926,252	R131*	probably null	Het
Fsd2	T	C	7: 81,535,109	T680A	probably benign	Het
Fsip2	T	C	2: 82,974,945	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,108,351		probably null	Het
Galnt9	T	G	5: 110,596,212	I304S	probably benign	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm5334	A	C	7: 68,618,977		noncoding transcript	Het
Grcc10	A	T	6: 124,740,513		probably benign	Het
Hmcn1	T	C	1: 150,859,186	T192A	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,220,635	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,671,449	C426S	probably damaging	Het
Lair1	A	G	7: 4,010,789	F153S	probably damaging	Het
Lrp1	T	C	10: 127,563,665	T2325A	probably damaging	Het
Lrp1	T	C	10: 127,556,269	H2835R	possibly damaging	Het
Lrrd1	T	C	5: 3,850,580	F295S	probably damaging	Het
Meis1	T	A	11: 19,010,608		probably benign	Het
Mkln1	T	A	6: 31,507,644	I156K	probably benign	Het
Mmd2	T	C	5: 142,575,350		probably benign	Het
Morc1	A	G	16: 48,452,477	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,512,670		probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Olfr1111	A	T	2: 87,149,806	L285*	probably null	Het
Olfr1112	A	T	2: 87,191,903	N72I	probably benign	Het
Olfr1509	T	C	14: 52,450,839	V142A	probably benign	Het
Olfr331	T	A	11: 58,502,059	M166L	probably benign	Het
Olfr933	C	T	9: 38,976,410	L245F	probably damaging	Het
Pcdha1	T	C	18: 36,932,184	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,436,788	V329E	probably damaging	Het
Pcf11	A	T	7: 92,663,585	D193E	probably benign	Het
Pcsk1	G	C	13: 75,110,828	M240I	probably damaging	Het
Pdc	T	A	1: 150,333,141	I125N	probably damaging	Het
Plch2	C	T	4: 154,998,272	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,953,913	Q231H	probably damaging	Het
Riok1	T	A	13: 38,052,950	I389N	probably damaging	Het
Ror1	T	A	4: 100,302,938	S50R	probably benign	Het
Samd13	T	C	3: 146,646,315	T75A	probably benign	Het
Siglec1	G	A	2: 131,073,956	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 131,084,012	N258S	probably damaging	Het
Slbp	G	A	5: 33,645,602	A126V	probably benign	Het
Slc12a4	A	T	8: 105,947,571		probably null	Het
Specc1	A	G	11: 62,128,392	I686V	possibly damaging	Het
Synpo2	C	A	3: 123,112,554	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,561,645	T374I	probably benign	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tmem190	T	C	7: 4,784,133	L112P	probably damaging	Het
Tsc2	C	T	17: 24,597,068	R1715Q	probably damaging	Het
Vmn1r46	T	C	6: 89,976,829	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,793,386	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,403,104	I2799T	probably benign	Het
Zfp105	T	C	9: 122,930,631	S456P	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
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
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'- TCCCACTTGAGCCTTTCACAGTACA -3'
(R):5'- tggccctcGTAGTTAGAAATGCTCT -3'

Sequencing Primer
(F):5'- TGACCCATGGAAAACCCTTG -3'
(R):5'- ggatgttagtcagccagcag -3'

Posted On

2014-05-14