Mutagenetix > Incidental Mutation

Incidental Mutation 'R7343:Abcg3'

570000

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: 0.060) question?

Stock #

R7343 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104968234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 245 (F245I)

Ref Sequence

ENSEMBL: ENSMUSP00000031239 (fasta)

Gene Model

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

AlphaFold

Q99P81

Predicted Effect

probably benign
Transcript: ENSMUST00000031239
AA Change: F245I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: F245I

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: F245I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: F245I

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

Coding Region Coverage

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

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	C	6: 83,162,371	N426T	probably benign	Het
6430548M08Rik	A	G	8: 120,145,588	D85G	probably benign	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Abhd17a	G	T	10: 80,584,157	F231L	possibly damaging	Het
Adgra1	A	T	7: 139,876,142	D562V	probably damaging	Het
Akap7	C	A	10: 25,289,669		probably benign	Het
Akap9	A	G	5: 4,046,364	D2413G	probably damaging	Het
Akr1c18	A	T	13: 4,137,237	C193S	probably damaging	Het
Aloxe3	A	T	11: 69,132,743	M231L	probably benign	Het
Apoh	A	G	11: 108,395,848	T33A	probably benign	Het
Atp13a5	T	C	16: 29,321,749	N330D	probably benign	Het
C1ql3	T	G	2: 13,010,778	M24L	probably benign	Het
Cacna1d	T	C	14: 30,123,057	N712S	probably benign	Het
Cbs	T	C	17: 31,619,139	M379V	possibly damaging	Het
Ccdc167	T	C	17: 29,705,543	D28G	probably damaging	Het
Ccp110	A	T	7: 118,724,575	Q679L	probably benign	Het
Ccz1	A	T	5: 143,998,182	L310H	probably damaging	Het
Cerkl	A	T	2: 79,428,760	D44E	probably damaging	Het
Cfap221	T	A	1: 119,995,098	E38V	possibly damaging	Het
Chia1	T	A	3: 106,132,015	*474R	probably null	Het
Clint1	C	T	11: 45,883,763	T32M	probably damaging	Het
Clk3	A	T	9: 57,760,956	F227L	probably damaging	Het
Col5a3	C	T	9: 20,793,946		probably null	Het
Cul2	T	C	18: 3,426,873	I501T	probably benign	Het
Dag1	G	A	9: 108,209,093	A283V	possibly damaging	Het
Ddr2	A	T	1: 169,982,078	W777R	probably damaging	Het
Deaf1	A	T	7: 141,322,958	V151D	probably damaging	Het
Dido1	A	T	2: 180,675,121	V631E	possibly damaging	Het
Dpp4	G	A	2: 62,358,901	Q429*	probably null	Het
Dscaml1	A	G	9: 45,752,916	R2030G	probably benign	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
E2f8	T	A	7: 48,867,965	M697L	probably damaging	Het
Eef2kmt	C	A	16: 5,247,435	G303W	probably damaging	Het
Eif2ak1	A	G	5: 143,877,671	Y182C	probably damaging	Het
Epha6	G	T	16: 59,960,430	A636E	probably damaging	Het
Fancd2	G	A	6: 113,536,939	V95I	probably benign	Het
Fbln5	A	T	12: 101,760,816	C292S	probably damaging	Het
Fgfr4	A	G	13: 55,159,155	Y219C	probably damaging	Het
Frem1	T	G	4: 82,994,122	K670T	probably damaging	Het
Fsip2	A	T	2: 82,979,367	H2010L	probably benign	Het
Gas2l2	A	T	11: 83,421,990	L832*	probably null	Het
Gbe1	A	G	16: 70,361,015	T101A	probably benign	Het
Gm5114	T	A	7: 39,408,756	I480F	probably damaging	Het
Gm7145	A	T	1: 117,986,112	R241S	probably damaging	Het
Gnal	G	A	18: 67,135,525	V161I	probably benign	Het
Gtpbp1	T	C	15: 79,691,042	C46R	probably benign	Het
Gucy2c	A	T	6: 136,702,748	L971Q	probably damaging	Het
Hsp90b1	T	C	10: 86,692,183	E740G	probably damaging	Het
Lingo2	G	A	4: 35,709,450	L177F	possibly damaging	Het
Mfsd6l	A	G	11: 68,557,048	T242A	possibly damaging	Het
Mmadhc	C	T	2: 50,291,445	R71K	probably damaging	Het
Mrm3	G	T	11: 76,249,900	V245L	probably damaging	Het
Nav3	T	A	10: 109,903,758	I117F	probably damaging	Het
Noc3l	A	T	19: 38,795,024	V636D	probably damaging	Het
Nwd1	A	T	8: 72,711,782	Q1486L	probably damaging	Het
Olfr1205	T	G	2: 88,831,846	I243R	probably damaging	Het
Olfr1380	A	G	11: 49,564,502	T194A	possibly damaging	Het
Olfr139	G	T	11: 74,044,900	R125S	possibly damaging	Het
Olfr433	A	T	1: 174,042,853	K301M	probably damaging	Het
Olfr785	C	G	10: 129,409,983	L206V	possibly damaging	Het
Pax9	T	A	12: 56,695,862	M1K	probably null	Het
Pcdha1	T	C	18: 36,930,649	V122A	probably damaging	Het
Pgpep1l	A	T	7: 68,237,721	S44T	probably damaging	Het
Pla2g3	C	T	11: 3,493,022	L452F	possibly damaging	Het
Plbd2	G	A	5: 120,493,149	R188W	probably damaging	Het
Ppp1r42	G	A	1: 9,968,857	P346L	probably benign	Het
Prdm8	T	A	5: 98,184,516	V92D	probably damaging	Het
Ripor2	C	A	13: 24,701,444	S554*	probably null	Het
Rps19	T	C	7: 24,885,146	V4A	probably damaging	Het
Rrm2b	T	A	15: 37,944,573	I159F	probably benign	Het
Rusc1	C	A	3: 89,091,750	G242W	probably damaging	Het
Sarm1	A	G	11: 78,497,257	S68P	possibly damaging	Het
Sctr	G	A	1: 120,022,225	R48Q	probably benign	Het
Slc22a4	A	G	11: 53,986,538	F509S	possibly damaging	Het
Slc39a12	G	A	2: 14,452,000	A600T	probably damaging	Het
Spta1	A	T	1: 174,223,349	H1798L	probably damaging	Het
Sulf2	T	G	2: 166,077,616	D804A	possibly damaging	Het
Suz12	A	T	11: 80,019,703	E316D	probably benign	Het
Tbrg4	A	G	11: 6,620,065	S270P	probably benign	Het
Tecta	T	C	9: 42,337,332	T1925A	probably damaging	Het
Thrap3	A	T	4: 126,178,430	F390I	probably damaging	Het
Tpr	C	A	1: 150,393,494	A70E	unknown	Het
Trpv4	G	C	5: 114,636,459	P188R	probably benign	Het
Txlna	A	C	4: 129,632,160	L298R	probably damaging	Het
Ubr4	T	C	4: 139,413,438	S1223P	probably benign	Het
Ucp1	A	T	8: 83,295,252	T238S	probably damaging	Het
Ush2a	A	G	1: 188,415,746	S957G	probably benign	Het
Usp34	A	G	11: 23,488,868	N3496D		Het
Vmn2r50	T	C	7: 10,050,350		probably null	Het
Wdr54	A	G	6: 83,154,939	V130A	probably benign	Het
Zfp692	A	T	11: 58,311,505	E362V	probably damaging	Het
Zfp811	A	G	17: 32,797,513	Y518H	probably damaging	Het
Zfp994	A	C	17: 22,200,068	C633W	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
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
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'- TCCTGTCCTCAAAGTAACCACG -3'
(R):5'- TGTGGAAAATTCAACCTGAAATGGG -3'

Sequencing Primer
(F):5'- TTAAGTCTGCACAAGAGTCAAACAG -3'
(R):5'- ATTCAACCTGAAATGGGAACAAAG -3'

Posted On

2019-09-13