Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Abcg3'

697019

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 #

R9181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104935057-104982718 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104974096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 138 (D138E)

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: D138E

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

SMART Domains

Protein: ENSMUSP00000031239
Gene: ENSMUSG00000029299
AA Change: D138E

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: D138E

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

SMART Domains

Protein: ENSMUSP00000120179
Gene: ENSMUSG00000029299
AA Change: D138E

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	T	A	2: 48,870,295	I21K	probably damaging	Het
Adam30	C	G	3: 98,162,878	P676A	probably benign	Het
AF529169	A	G	9: 89,603,341	M1T	probably null	Het
Ankrd28	A	C	14: 31,748,670	H145Q	probably damaging	Het
Ap3m2	A	G	8: 22,799,758	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,678,740	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,891,042	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,314,258	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,359,389		probably benign	Het
Col13a1	T	C	10: 61,867,833	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Dbf4	A	G	5: 8,412,206	V105A	possibly damaging	Het
Disp2	T	A	2: 118,786,912	V129E	probably benign	Het
Dnah7b	T	C	1: 46,142,034	V1027A	probably damaging	Het
Dst	T	A	1: 34,192,737	I3137N	probably benign	Het
F5	A	G	1: 164,192,326	D790G	probably benign	Het
Fan1	A	G	7: 64,366,652	S575P	probably damaging	Het
Gemin5	C	T	11: 58,130,209	A1051T	probably benign	Het
Gm10424	A	T	5: 95,270,555	V194D	probably benign	Het
Gsta4	A	G	9: 78,198,315	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,272,281	A211E	probably damaging	Het
Ifna1	A	T	4: 88,850,216	M44L	probably benign	Het
Ildr2	A	T	1: 166,294,714	D242V	probably damaging	Het
Kif27	G	T	13: 58,344,729	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,585,744	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,912,415	N173S	probably benign	Het
Mgat4c	A	T	10: 102,389,262	N446Y	probably benign	Het
Mocs1	T	A	17: 49,449,773	M261K	probably damaging	Het
Nlrp10	A	T	7: 108,924,901	F457L	probably damaging	Het
Nlrp4e	C	T	7: 23,361,845	R954*	probably null	Het
Olfr1191-ps1	T	C	2: 88,643,004	M79T	probably benign	Het
Pigu	T	C	2: 155,299,189	I261M	probably damaging	Het
Pkd1l3	T	A	8: 109,648,686	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,378,891		probably benign	Het
Pmpca	T	C	2: 26,393,353	L388P	probably damaging	Het
Polg	A	T	7: 79,454,673	I818N	probably damaging	Het
Radil	A	G	5: 142,494,967	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,818,721	D95G	probably damaging	Het
Rrnad1	A	G	3: 87,928,085		probably benign	Het
Rufy2	A	T	10: 63,000,387	Y365F	possibly damaging	Het
Ssc5d	A	G	7: 4,942,815	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,113,994	T7142A	probably damaging	Het
Tert	A	T	13: 73,637,175		probably benign	Het
Tpbgl	A	T	7: 99,625,569	D360E	probably damaging	Het
Traj13	G	A	14: 54,205,791	V17I	unknown	Het
Trim13	G	A	14: 61,604,597	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,848,329	V357A	possibly damaging	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Zfp971	T	C	2: 178,032,943	F112L	probably damaging	Het
Znfx1	C	T	2: 167,037,818	C1546Y	probably damaging	Het
Znfx1	T	A	2: 167,038,217	E1413V	probably benign	Het
Zscan4c	A	G	7: 11,009,814	M447V	probably benign	Het
Zyx	T	A	6: 42,357,884	D541E	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
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
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'- CTACAGGAAACAGCTTGTGGAG -3'
(R):5'- GGGAACATTTGGATCAGGCTC -3'

Sequencing Primer
(F):5'- AGGGGCATGTCATCCACAC -3'
(R):5'- AACATTTGGATCAGGCTCTGTGTTTG -3'

Posted On

2022-02-07