Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01150:Abcb1a'

51202

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcb1a

Ensembl Gene

ENSMUSG00000040584

Gene Name

ATP-binding cassette, sub-family B member 1A

Synonyms

Evi32, multiple drug resistant 1a, Pgp, MDR3, Pgy-3, Mdr1a, P-glycoprotein, P-gp, Pgy3, mdr-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL01150

Quality Score

Status

Chromosome

Chromosomal Location

8710077-8798575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8752550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 507 (D507G)

Ref Sequence

ENSEMBL: ENSMUSP00000041204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047753]

AlphaFold

P21447

PDB Structure

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047753
AA Change: D507G

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: D507G

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
Pfam:ABC_membrane	50	339	8.3e-97	PFAM
AAA	415	607	1.22e-20	SMART
Pfam:ABC_membrane	707	982	4.8e-79	PFAM
AAA	1058	1246	8.85e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a p-glycoprotein which actively transports a variety of hydrophobic amphipathic drugs and plays a major role in the blood-brain barrier permeability of certain drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine. Mice with a null allele develop spontanous colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	G	3: 32,766,313 (GRCm39)	I60V	probably benign	Het
Adra2c	T	C	5: 35,438,485 (GRCm39)	F419S	probably damaging	Het
Afap1l2	T	C	19: 56,918,618 (GRCm39)	Y105C	probably damaging	Het
Arid4b	C	T	13: 14,369,959 (GRCm39)	Q1152*	probably null	Het
Arsj	A	G	3: 126,232,433 (GRCm39)	D393G	probably benign	Het
Avp	T	C	2: 130,422,593 (GRCm39)		probably benign	Het
Cacna2d3	C	T	14: 28,905,598 (GRCm39)	V390I	possibly damaging	Het
Ccdc25	T	A	14: 66,097,651 (GRCm39)	M195K	possibly damaging	Het
Cdhr2	T	A	13: 54,878,931 (GRCm39)	S979T	probably benign	Het
Cog2	T	C	8: 125,269,630 (GRCm39)	F390S	possibly damaging	Het
Dennd5b	A	G	6: 148,969,583 (GRCm39)	V290A	probably benign	Het
Ebf1	T	C	11: 44,759,927 (GRCm39)	L188P	probably damaging	Het
Galt	T	C	4: 41,757,786 (GRCm39)		probably benign	Het
Gm12830	C	T	4: 114,702,261 (GRCm39)	T141I	unknown	Het
Herc2	T	A	7: 55,830,881 (GRCm39)	W2965R	probably damaging	Het
Hrg	A	G	16: 22,777,909 (GRCm39)		probably null	Het
Ighv8-5	T	C	12: 115,031,194 (GRCm39)	Y115C	probably damaging	Het
Igkv12-89	A	G	6: 68,812,127 (GRCm39)	V14A	probably benign	Het
Nav2	A	C	7: 49,102,269 (GRCm39)	T295P	probably benign	Het
Niban1	T	C	1: 151,593,472 (GRCm39)	V719A	probably benign	Het
Nrg1	G	A	8: 32,407,903 (GRCm39)	T110I	probably damaging	Het
Or4c31	T	C	2: 88,292,419 (GRCm39)	V264A	possibly damaging	Het
Or51h1	A	C	7: 102,308,699 (GRCm39)	K224Q	probably benign	Het
Or7g29	A	T	9: 19,286,535 (GRCm39)	I214N	probably damaging	Het
Pclo	T	C	5: 14,726,926 (GRCm39)		probably benign	Het
Polg2	T	C	11: 106,668,258 (GRCm39)		probably null	Het
Ptges	G	T	2: 30,782,720 (GRCm39)	R111S	probably damaging	Het
Rbbp4	T	C	4: 129,216,668 (GRCm39)		probably benign	Het
Rundc3a	T	C	11: 102,284,602 (GRCm39)	V34A	probably benign	Het
Scn3a	C	A	2: 65,327,709 (GRCm39)		probably null	Het
Sec14l3	T	C	11: 4,026,238 (GRCm39)		probably benign	Het
Strip1	C	T	3: 107,534,047 (GRCm39)		probably null	Het
Svep1	T	A	4: 58,070,302 (GRCm39)	I2495F	probably benign	Het
Syne1	A	G	10: 5,393,154 (GRCm39)	S71P	probably damaging	Het
Tedc1	C	T	12: 113,126,808 (GRCm39)	R357*	probably null	Het
Tmem161b	C	T	13: 84,440,526 (GRCm39)	R133*	probably null	Het
Tnnc2	A	T	2: 164,619,753 (GRCm39)	I71N	probably damaging	Het
Vps13d	T	C	4: 144,875,845 (GRCm39)	N1554S	probably benign	Het
Wfdc3	A	T	2: 164,574,123 (GRCm39)		probably benign	Het
Zfp648	A	T	1: 154,081,110 (GRCm39)	H423L	probably damaging	Het

Other mutations in Abcb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Abcb1a	APN	5	8,736,257 (GRCm39)	missense	probably benign	0.01
IGL00898:Abcb1a	APN	5	8,783,690 (GRCm39)	missense	probably damaging	0.97
IGL01064:Abcb1a	APN	5	8,782,388 (GRCm39)	missense	possibly damaging	0.65
IGL01118:Abcb1a	APN	5	8,724,687 (GRCm39)	missense	probably damaging	1.00
IGL01584:Abcb1a	APN	5	8,748,637 (GRCm39)	missense	possibly damaging	0.95
IGL01654:Abcb1a	APN	5	8,765,065 (GRCm39)	critical splice donor site	probably null
IGL01820:Abcb1a	APN	5	8,765,896 (GRCm39)	splice site	probably benign
IGL02499:Abcb1a	APN	5	8,776,807 (GRCm39)	missense	possibly damaging	0.67
IGL02711:Abcb1a	APN	5	8,773,245 (GRCm39)	splice site	probably null
IGL02954:Abcb1a	APN	5	8,782,341 (GRCm39)	missense	probably benign	0.00
IGL03018:Abcb1a	APN	5	8,752,451 (GRCm39)	missense	probably damaging	0.99
IGL03119:Abcb1a	APN	5	8,764,887 (GRCm39)	missense	probably benign	0.00
IGL03292:Abcb1a	APN	5	8,765,827 (GRCm39)	missense	possibly damaging	0.93
IGL03338:Abcb1a	APN	5	8,744,153 (GRCm39)	missense	probably damaging	1.00
R0418:Abcb1a	UTSW	5	8,763,281 (GRCm39)	missense	probably damaging	0.96
R0559:Abcb1a	UTSW	5	8,748,535 (GRCm39)	missense	probably benign	0.01
R0595:Abcb1a	UTSW	5	8,790,417 (GRCm39)	missense	probably damaging	1.00
R0599:Abcb1a	UTSW	5	8,748,539 (GRCm39)	missense	probably benign	0.13
R0811:Abcb1a	UTSW	5	8,763,229 (GRCm39)	missense	probably damaging	1.00
R0812:Abcb1a	UTSW	5	8,763,229 (GRCm39)	missense	probably damaging	1.00
R0894:Abcb1a	UTSW	5	8,724,856 (GRCm39)	splice site	probably benign
R0948:Abcb1a	UTSW	5	8,790,621 (GRCm39)	splice site	probably null
R1292:Abcb1a	UTSW	5	8,763,343 (GRCm39)	missense	probably benign	0.00
R1318:Abcb1a	UTSW	5	8,751,621 (GRCm39)	missense	probably benign	0.31
R1459:Abcb1a	UTSW	5	8,752,920 (GRCm39)	missense	probably damaging	1.00
R1489:Abcb1a	UTSW	5	8,736,300 (GRCm39)	critical splice donor site	probably null
R1514:Abcb1a	UTSW	5	8,724,791 (GRCm39)	missense	possibly damaging	0.88
R2100:Abcb1a	UTSW	5	8,763,202 (GRCm39)	missense	probably damaging	1.00
R2409:Abcb1a	UTSW	5	8,788,747 (GRCm39)	missense	probably benign	0.30
R2844:Abcb1a	UTSW	5	8,736,164 (GRCm39)	missense	probably benign	0.02
R3709:Abcb1a	UTSW	5	8,788,738 (GRCm39)	missense	probably benign	0.03
R3755:Abcb1a	UTSW	5	8,797,403 (GRCm39)	missense	possibly damaging	0.95
R4193:Abcb1a	UTSW	5	8,765,068 (GRCm39)	splice site	probably null
R4401:Abcb1a	UTSW	5	8,752,390 (GRCm39)	missense	possibly damaging	0.54
R4463:Abcb1a	UTSW	5	8,769,981 (GRCm39)	splice site	probably benign
R4539:Abcb1a	UTSW	5	8,765,793 (GRCm39)	missense	probably benign
R4635:Abcb1a	UTSW	5	8,764,927 (GRCm39)	missense	probably benign
R4740:Abcb1a	UTSW	5	8,752,280 (GRCm39)	critical splice donor site	probably null
R4757:Abcb1a	UTSW	5	8,787,632 (GRCm39)	missense	probably damaging	0.99
R4764:Abcb1a	UTSW	5	8,765,732 (GRCm39)	splice site	probably null
R4792:Abcb1a	UTSW	5	8,796,657 (GRCm39)	critical splice donor site	probably null
R4829:Abcb1a	UTSW	5	8,773,214 (GRCm39)	missense	probably damaging	1.00
R4935:Abcb1a	UTSW	5	8,787,773 (GRCm39)	critical splice donor site	probably null
R5140:Abcb1a	UTSW	5	8,752,154 (GRCm39)	missense	probably damaging	0.99
R5181:Abcb1a	UTSW	5	8,764,937 (GRCm39)	missense	probably benign
R5355:Abcb1a	UTSW	5	8,776,873 (GRCm39)	missense	probably damaging	1.00
R5406:Abcb1a	UTSW	5	8,752,946 (GRCm39)	missense	probably damaging	0.99
R5496:Abcb1a	UTSW	5	8,724,818 (GRCm39)	missense	probably benign
R5557:Abcb1a	UTSW	5	8,764,949 (GRCm39)	missense	probably benign	0.01
R5572:Abcb1a	UTSW	5	8,765,108 (GRCm39)	splice site	probably null
R5702:Abcb1a	UTSW	5	8,787,752 (GRCm39)	missense	probably benign	0.15
R5753:Abcb1a	UTSW	5	8,773,160 (GRCm39)	missense	probably damaging	0.98
R5769:Abcb1a	UTSW	5	8,733,426 (GRCm39)	missense	probably benign	0.01
R5895:Abcb1a	UTSW	5	8,752,216 (GRCm39)	missense	probably damaging	1.00
R6536:Abcb1a	UTSW	5	8,769,030 (GRCm39)	missense	probably benign	0.01
R6555:Abcb1a	UTSW	5	8,752,468 (GRCm39)	missense	probably damaging	0.97
R6798:Abcb1a	UTSW	5	8,782,364 (GRCm39)	missense	probably damaging	1.00
R6875:Abcb1a	UTSW	5	8,751,628 (GRCm39)	missense	probably benign	0.28
R7000:Abcb1a	UTSW	5	8,752,823 (GRCm39)	missense	probably benign	0.19
R7102:Abcb1a	UTSW	5	8,744,072 (GRCm39)	missense	probably benign	0.01
R7172:Abcb1a	UTSW	5	8,752,399 (GRCm39)	missense	probably benign	0.00
R7313:Abcb1a	UTSW	5	8,773,187 (GRCm39)	missense	probably damaging	1.00
R7513:Abcb1a	UTSW	5	8,765,771 (GRCm39)	nonsense	probably null
R7718:Abcb1a	UTSW	5	8,765,788 (GRCm39)	missense	probably damaging	1.00
R7816:Abcb1a	UTSW	5	8,736,132 (GRCm39)	missense	possibly damaging	0.56
R7829:Abcb1a	UTSW	5	8,748,623 (GRCm39)	missense	probably benign	0.06
R7943:Abcb1a	UTSW	5	8,736,222 (GRCm39)	missense	probably benign
R8040:Abcb1a	UTSW	5	8,765,035 (GRCm39)	missense	probably benign	0.00
R8086:Abcb1a	UTSW	5	8,724,833 (GRCm39)	missense	probably benign
R8271:Abcb1a	UTSW	5	8,736,212 (GRCm39)	missense	probably benign	0.41
R8367:Abcb1a	UTSW	5	8,736,221 (GRCm39)	missense	probably benign	0.00
R8520:Abcb1a	UTSW	5	8,735,346 (GRCm39)	missense	possibly damaging	0.67
R8680:Abcb1a	UTSW	5	8,735,371 (GRCm39)	missense	probably damaging	0.99
R8820:Abcb1a	UTSW	5	8,773,204 (GRCm39)	missense	possibly damaging	0.69
R8996:Abcb1a	UTSW	5	8,769,069 (GRCm39)	missense	probably benign	0.00
R9114:Abcb1a	UTSW	5	8,788,702 (GRCm39)	nonsense	probably null
R9127:Abcb1a	UTSW	5	8,724,707 (GRCm39)	missense	probably benign
R9187:Abcb1a	UTSW	5	8,765,016 (GRCm39)	missense	probably benign
R9294:Abcb1a	UTSW	5	8,736,171 (GRCm39)	missense	probably benign	0.02
R9459:Abcb1a	UTSW	5	8,735,414 (GRCm39)	critical splice donor site	probably null
R9581:Abcb1a	UTSW	5	8,790,428 (GRCm39)	missense	possibly damaging	0.66
R9617:Abcb1a	UTSW	5	8,797,353 (GRCm39)	critical splice acceptor site	probably null
R9676:Abcb1a	UTSW	5	8,714,548 (GRCm39)	missense	possibly damaging	0.87
R9682:Abcb1a	UTSW	5	8,752,507 (GRCm39)	missense	probably benign	0.44
R9790:Abcb1a	UTSW	5	8,748,604 (GRCm39)	missense	probably damaging	1.00
R9791:Abcb1a	UTSW	5	8,748,604 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcb1a	UTSW	5	8,796,544 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-06-21