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

Abcp2, Mxr2

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

105082923-105130584 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 105111421 bp (GRCm39)

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
4732465J04Rik	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	10: 95,629,641 (GRCm39)		probably null	Het
4930583I09Rik	T	C	17: 65,141,444 (GRCm39)	N53S	unknown	Het
4933434E20Rik	T	A	3: 89,963,544 (GRCm39)	S67T	probably benign	Het
Abcc8	T	C	7: 45,765,239 (GRCm39)	I1127V	possibly damaging	Het
Adam2	A	G	14: 66,306,007 (GRCm39)	L158P	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap11	C	A	14: 78,750,788 (GRCm39)	S533I	probably benign	Het
Aldh1a2	A	T	9: 71,200,953 (GRCm39)	N517I	probably damaging	Het
Aldh4a1	A	T	4: 139,365,840 (GRCm39)	H277L	possibly damaging	Het
Aldh4a1	G	A	4: 139,361,305 (GRCm39)		probably null	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,712 (GRCm39)		probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,989,121 (GRCm39)	D616G	probably damaging	Het
Arvcf	A	G	16: 18,220,319 (GRCm39)	K568E	possibly damaging	Het
Atp8b3	G	A	10: 80,364,631 (GRCm39)	R521W	probably damaging	Het
Casp16	A	G	17: 23,771,024 (GRCm39)	I127T	possibly damaging	Het
Cd163	A	G	6: 124,306,547 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,757,337 (GRCm39)	S754T	probably damaging	Het
Cel	A	G	2: 28,446,789 (GRCm39)	Y461H	probably damaging	Het
Chmp4b	A	G	2: 154,499,240 (GRCm39)	I47V	possibly damaging	Het
Col1a1	A	G	11: 94,839,218 (GRCm39)	M989V	unknown	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Csmd1	A	T	8: 17,266,708 (GRCm39)	S73T	possibly damaging	Het
Csnk2a2	T	C	8: 96,182,436 (GRCm39)		probably null	Het
Dact2	A	T	17: 14,418,175 (GRCm39)	W177R	probably benign	Het
Ddx10	A	G	9: 53,071,253 (GRCm39)	V680A	probably benign	Het
Eif5	T	A	12: 111,508,651 (GRCm39)	D215E	probably benign	Het
Evpl	C	T	11: 116,116,318 (GRCm39)	A817T	probably benign	Het
Fmo6	T	A	1: 162,753,821 (GRCm39)	R131*	probably null	Het
Fsd2	T	C	7: 81,184,857 (GRCm39)	T680A	probably benign	Het
Fsip2	T	C	2: 82,805,289 (GRCm39)	V536A	possibly damaging	Het
Fzd8	T	C	18: 9,214,364 (GRCm39)	F482S	probably damaging	Het
Gabrb1	A	T	5: 72,265,694 (GRCm39)		probably null	Het
Galnt9	T	G	5: 110,744,078 (GRCm39)	I304S	probably benign	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm5334	A	C	7: 68,268,725 (GRCm39)		noncoding transcript	Het
Grcc10	A	T	6: 124,717,476 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,734,937 (GRCm39)	T192A	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irgm2	T	A	11: 58,111,461 (GRCm39)	L396Q	probably damaging	Het
Ksr2	T	A	5: 117,809,514 (GRCm39)	C426S	probably damaging	Het
Lair1	A	G	7: 4,013,788 (GRCm39)	F153S	probably damaging	Het
Lrp1	T	C	10: 127,392,138 (GRCm39)	H2835R	possibly damaging	Het
Lrp1	T	C	10: 127,399,534 (GRCm39)	T2325A	probably damaging	Het
Lrrd1	T	C	5: 3,900,580 (GRCm39)	F295S	probably damaging	Het
Meis1	T	A	11: 18,960,608 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,484,579 (GRCm39)	I156K	probably benign	Het
Mmd2	T	C	5: 142,561,105 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,272,840 (GRCm39)	I156V	probably benign	Het
Muc4	A	G	16: 32,753,405 (GRCm38)	T1094A	possibly damaging	Het
Nckap1	A	G	2: 80,343,014 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Or12e1	A	T	2: 87,022,247 (GRCm39)	N72I	probably benign	Het
Or2t49	T	A	11: 58,392,885 (GRCm39)	M166L	probably benign	Het
Or4e2	T	C	14: 52,688,296 (GRCm39)	V142A	probably benign	Het
Or5as1	A	T	2: 86,980,150 (GRCm39)	L285*	probably null	Het
Or8d1b	C	T	9: 38,887,706 (GRCm39)	L245F	probably damaging	Het
Pcdha1	T	C	18: 37,065,237 (GRCm39)	S634P	probably benign	Het
Pcdhb12	T	A	18: 37,569,841 (GRCm39)	V329E	probably damaging	Het
Pcf11	A	T	7: 92,312,793 (GRCm39)	D193E	probably benign	Het
Pcsk1	G	C	13: 75,258,947 (GRCm39)	M240I	probably damaging	Het
Pdc	T	A	1: 150,208,892 (GRCm39)	I125N	probably damaging	Het
Plch2	C	T	4: 155,082,729 (GRCm39)	G564S	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Riok1	T	A	13: 38,236,926 (GRCm39)	I389N	probably damaging	Het
Ror1	T	A	4: 100,160,135 (GRCm39)	S50R	probably benign	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Siglec1	G	A	2: 130,915,876 (GRCm39)	H1329Y	possibly damaging	Het
Siglec1	T	C	2: 130,925,932 (GRCm39)	N258S	probably damaging	Het
Slbp	G	A	5: 33,802,946 (GRCm39)	A126V	probably benign	Het
Slc12a4	A	T	8: 106,674,203 (GRCm39)		probably null	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Synpo2	C	A	3: 122,906,203 (GRCm39)	V1038F	probably damaging	Het
Tbk1	G	A	10: 121,397,550 (GRCm39)	T374I	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tmem190	T	C	7: 4,787,132 (GRCm39)	L112P	probably damaging	Het
Tsc2	C	T	17: 24,816,042 (GRCm39)	R1715Q	probably damaging	Het
Ulbp3	A	T	10: 3,075,050 (GRCm39)		noncoding transcript	Het
Vmn1r46	T	C	6: 89,953,811 (GRCm39)	L220P	probably damaging	Het
Vwa3a	A	G	7: 120,392,609 (GRCm39)	Q816R	probably benign	Het
Zfhx4	T	C	3: 5,468,164 (GRCm39)	I2799T	probably benign	Het
Zfp105	T	C	9: 122,759,696 (GRCm39)	S456P	probably damaging	Het

Other mutations in Abcg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Abcg3	APN	5	105,083,878 (GRCm39)	missense	probably benign	0.02
IGL01363:Abcg3	APN	5	105,096,228 (GRCm39)	missense	possibly damaging	0.55
IGL02097:Abcg3	APN	5	105,109,052 (GRCm39)	missense	possibly damaging	0.77
IGL02554:Abcg3	APN	5	105,117,318 (GRCm39)	missense	possibly damaging	0.48
IGL02561:Abcg3	APN	5	105,125,536 (GRCm39)	missense	probably benign	0.18
IGL02974:Abcg3	APN	5	105,116,129 (GRCm39)	missense	probably damaging	1.00
IGL03058:Abcg3	APN	5	105,109,112 (GRCm39)	missense	probably benign	0.00
IGL03153:Abcg3	APN	5	105,122,631 (GRCm39)	splice site	probably benign
IGL03377:Abcg3	APN	5	105,096,256 (GRCm39)	missense	probably benign	0.01
R0110:Abcg3	UTSW	5	105,125,482 (GRCm39)	missense	probably damaging	0.97
R0469:Abcg3	UTSW	5	105,125,482 (GRCm39)	missense	probably damaging	0.97
R0510:Abcg3	UTSW	5	105,125,482 (GRCm39)	missense	probably damaging	0.97
R0530:Abcg3	UTSW	5	105,083,920 (GRCm39)	missense	probably damaging	1.00
R0579:Abcg3	UTSW	5	105,121,969 (GRCm39)	missense	probably damaging	1.00
R1237:Abcg3	UTSW	5	105,096,223 (GRCm39)	missense	probably damaging	0.96
R1505:Abcg3	UTSW	5	105,099,431 (GRCm39)	missense	probably damaging	1.00
R1627:Abcg3	UTSW	5	105,083,880 (GRCm39)	missense	probably benign	0.00
R1797:Abcg3	UTSW	5	105,087,030 (GRCm39)	missense	possibly damaging	0.66
R1899:Abcg3	UTSW	5	105,086,065 (GRCm39)	missense	probably damaging	0.99
R1974:Abcg3	UTSW	5	105,111,504 (GRCm39)	missense	probably benign	0.01
R2136:Abcg3	UTSW	5	105,114,680 (GRCm39)	missense	probably benign	0.04
R2285:Abcg3	UTSW	5	105,087,037 (GRCm39)	missense	probably damaging	1.00
R3880:Abcg3	UTSW	5	105,086,046 (GRCm39)	splice site	probably benign
R4242:Abcg3	UTSW	5	105,109,079 (GRCm39)	missense	probably benign
R4738:Abcg3	UTSW	5	105,121,849 (GRCm39)	missense	probably benign
R5225:Abcg3	UTSW	5	105,114,649 (GRCm39)	missense	probably damaging	1.00
R5309:Abcg3	UTSW	5	105,084,465 (GRCm39)	missense	possibly damaging	0.53
R5704:Abcg3	UTSW	5	105,116,036 (GRCm39)	missense	probably damaging	0.96
R5705:Abcg3	UTSW	5	105,116,036 (GRCm39)	missense	probably damaging	0.96
R5785:Abcg3	UTSW	5	105,116,036 (GRCm39)	missense	probably damaging	0.96
R6155:Abcg3	UTSW	5	105,111,510 (GRCm39)	missense	probably benign	0.00
R6309:Abcg3	UTSW	5	105,117,259 (GRCm39)	critical splice donor site	probably null
R6814:Abcg3	UTSW	5	105,083,860 (GRCm39)	missense	probably benign
R6872:Abcg3	UTSW	5	105,083,860 (GRCm39)	missense	probably benign
R6916:Abcg3	UTSW	5	105,122,601 (GRCm39)	missense	probably benign	0.16
R7217:Abcg3	UTSW	5	105,087,094 (GRCm39)	missense	possibly damaging	0.75
R7310:Abcg3	UTSW	5	105,114,632 (GRCm39)	missense	probably benign	0.01
R7343:Abcg3	UTSW	5	105,116,100 (GRCm39)	missense	probably benign	0.00
R7401:Abcg3	UTSW	5	105,114,640 (GRCm39)	missense	probably damaging	0.99
R7531:Abcg3	UTSW	5	105,125,507 (GRCm39)	missense	probably benign
R7685:Abcg3	UTSW	5	105,116,081 (GRCm39)	missense	probably damaging	1.00
R7728:Abcg3	UTSW	5	105,083,944 (GRCm39)	missense	probably benign	0.00
R7819:Abcg3	UTSW	5	105,125,594 (GRCm39)	missense	probably benign	0.05
R7942:Abcg3	UTSW	5	105,087,027 (GRCm39)	missense	probably damaging	1.00
R8059:Abcg3	UTSW	5	105,100,948 (GRCm39)	critical splice donor site	probably null
R9181:Abcg3	UTSW	5	105,121,962 (GRCm39)	missense	probably benign
R9529:Abcg3	UTSW	5	105,121,973 (GRCm39)	missense	probably damaging	1.00
R9641:Abcg3	UTSW	5	105,084,483 (GRCm39)	missense	probably benign
X0022:Abcg3	UTSW	5	105,096,282 (GRCm39)	missense	probably benign	0.02
X0026:Abcg3	UTSW	5	105,086,055 (GRCm39)	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