Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02233:Abcc10'

285812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C member 10

Synonyms

Mrp7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL02233

Quality Score

Status

Chromosome

Chromosomal Location

46614146-46638954 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 46635085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000095261] [ENSMUST00000167360] [ENSMUST00000168490] [ENSMUST00000171584]

AlphaFold

Q8R4P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047970
AA Change: L306Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: L306Q

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	5.4e-24	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
Pfam:ABC_membrane	889	1203	1.7e-33	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1490	3.57e-13	SMART
low complexity region	1506	1517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095261
AA Change: L265Q

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: L265Q

Domain	Start	End	E-Value	Type
transmembrane domain	29	48	N/A	INTRINSIC
transmembrane domain	58	80	N/A	INTRINSIC
transmembrane domain	93	112	N/A	INTRINSIC
transmembrane domain	127	149	N/A	INTRINSIC
Pfam:ABC_membrane	245	511	2.1e-30	PFAM
AAA	585	768	5.76e-8	SMART
low complexity region	800	811	N/A	INTRINSIC
transmembrane domain	836	858	N/A	INTRINSIC
Pfam:ABC_membrane	896	1162	6.9e-26	PFAM
low complexity region	1190	1204	N/A	INTRINSIC
AAA	1240	1424	1.67e-13	SMART
low complexity region	1440	1451	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165733

Predicted Effect

probably damaging
Transcript: ENSMUST00000167360
AA Change: L306Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: L306Q

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	552	2.2e-30	PFAM
AAA	626	809	5.76e-8	SMART
low complexity region	841	852	N/A	INTRINSIC
transmembrane domain	877	899	N/A	INTRINSIC
Pfam:ABC_membrane	937	1203	7.2e-26	PFAM
low complexity region	1231	1245	N/A	INTRINSIC
AAA	1281	1465	1.67e-13	SMART
low complexity region	1481	1492	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168490

SMART Domains

Protein: ENSMUSP00000132760
Gene: ENSMUSG00000032842

Domain	Start	End	E-Value	Type
AAA	75	242	4.61e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170168

Predicted Effect

probably damaging
Transcript: ENSMUST00000171584
AA Change: L306Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842
AA Change: L306Q

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	70	89	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	134	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	286	462	8.3e-18	PFAM

Coding Region Coverage

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, and White). This ABC transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homzozygous for a knock-out allele exhibit increased sensitivity to paclitaxel-induced mortality associated with weight loss, decreased white blood cell, and small spleen and thymus cortex due to apoptosis and/or depopulation of lymphoid cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,165,170 (GRCm39)	Q1581*	probably null	Het
Adam25	A	G	8: 41,208,423 (GRCm39)	Y563C	probably damaging	Het
Cnr2	T	A	4: 135,644,522 (GRCm39)	I200N	possibly damaging	Het
Col5a2	T	C	1: 45,422,747 (GRCm39)		probably null	Het
Cpa2	T	C	6: 30,557,666 (GRCm39)		probably benign	Het
Dis3l2	T	C	1: 86,917,953 (GRCm39)	V534A	probably damaging	Het
Dlg2	A	T	7: 92,093,746 (GRCm39)	D845V	probably damaging	Het
Dnah8	T	C	17: 30,925,487 (GRCm39)		probably null	Het
Ephb4	T	A	5: 137,352,763 (GRCm39)	Y115*	probably null	Het
Evc2	A	G	5: 37,535,681 (GRCm39)	Y452C	probably damaging	Het
Fbn1	A	G	2: 125,163,530 (GRCm39)		probably benign	Het
Gm5134	A	T	10: 75,844,334 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,184 (GRCm39)	T249A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,308 (GRCm39)	T91A	probably benign	Het
Lin9	C	A	1: 180,516,865 (GRCm39)	A535E	probably damaging	Het
Muc1	G	A	3: 89,138,935 (GRCm39)	V515I	probably benign	Het
Mup3	A	G	4: 62,003,016 (GRCm39)	I170T	probably damaging	Het
Myo1e	T	C	9: 70,291,081 (GRCm39)		probably benign	Het
Or3a1d	A	G	11: 74,238,254 (GRCm39)	V52A	possibly damaging	Het
Or8b50	A	G	9: 38,518,538 (GRCm39)	Y259C	probably damaging	Het
Pde4d	T	C	13: 109,877,084 (GRCm39)	S202P	probably damaging	Het
Pomt2	A	G	12: 87,158,185 (GRCm39)	V676A	probably benign	Het
Rasl10a	C	A	11: 5,008,333 (GRCm39)	L10M	probably damaging	Het
Rilp	T	C	11: 75,403,538 (GRCm39)	Y327H	probably damaging	Het
Sec23ip	A	G	7: 128,380,903 (GRCm39)	S957G	probably damaging	Het
Srbd1	T	C	17: 86,406,050 (GRCm39)		probably null	Het
Thsd7a	T	C	6: 12,555,257 (GRCm39)	H209R	probably benign	Het
Trav14-3	T	C	14: 54,000,643 (GRCm39)		probably benign	Het
Vipr2	A	G	12: 116,058,356 (GRCm39)	N91S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Abcc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Abcc10	APN	17	46,634,671 (GRCm39)	missense	probably damaging	1.00
IGL01115:Abcc10	APN	17	46,621,352 (GRCm39)	missense	probably benign
IGL01380:Abcc10	APN	17	46,634,948 (GRCm39)	missense	possibly damaging	0.90
IGL01476:Abcc10	APN	17	46,638,863 (GRCm39)	utr 5 prime	probably benign
IGL01723:Abcc10	APN	17	46,624,671 (GRCm39)	missense	probably damaging	1.00
IGL01867:Abcc10	APN	17	46,635,364 (GRCm39)	missense	probably benign	0.07
IGL02065:Abcc10	APN	17	46,623,827 (GRCm39)	missense	possibly damaging	0.60
IGL03394:Abcc10	APN	17	46,635,277 (GRCm39)	missense	probably damaging	1.00
Decrepit	UTSW	17	46,635,317 (GRCm39)	missense	probably damaging	1.00
Shrivelled	UTSW	17	46,623,345 (GRCm39)	missense	probably benign
PIT4514001:Abcc10	UTSW	17	46,616,574 (GRCm39)	missense	probably benign
R0366:Abcc10	UTSW	17	46,635,724 (GRCm39)	nonsense	probably null
R0437:Abcc10	UTSW	17	46,623,846 (GRCm39)	splice site	probably benign
R0437:Abcc10	UTSW	17	46,623,845 (GRCm39)	splice site	probably null
R0549:Abcc10	UTSW	17	46,633,216 (GRCm39)	missense	probably damaging	1.00
R0580:Abcc10	UTSW	17	46,616,882 (GRCm39)	splice site	probably null
R1056:Abcc10	UTSW	17	46,614,880 (GRCm39)	missense	possibly damaging	0.60
R1426:Abcc10	UTSW	17	46,635,361 (GRCm39)	missense	probably damaging	0.97
R1595:Abcc10	UTSW	17	46,633,164 (GRCm39)	missense	probably damaging	1.00
R1745:Abcc10	UTSW	17	46,623,359 (GRCm39)	missense	probably benign
R1856:Abcc10	UTSW	17	46,617,529 (GRCm39)	missense	probably damaging	1.00
R1968:Abcc10	UTSW	17	46,633,125 (GRCm39)	missense	probably damaging	1.00
R2070:Abcc10	UTSW	17	46,614,491 (GRCm39)	missense	probably benign
R2071:Abcc10	UTSW	17	46,614,491 (GRCm39)	missense	probably benign
R2255:Abcc10	UTSW	17	46,616,561 (GRCm39)	missense	probably benign	0.18
R2425:Abcc10	UTSW	17	46,621,083 (GRCm39)	missense	probably damaging	1.00
R4116:Abcc10	UTSW	17	46,634,817 (GRCm39)	missense	possibly damaging	0.50
R4510:Abcc10	UTSW	17	46,618,136 (GRCm39)	missense	probably damaging	0.98
R4511:Abcc10	UTSW	17	46,618,136 (GRCm39)	missense	probably damaging	0.98
R4645:Abcc10	UTSW	17	46,635,700 (GRCm39)	missense	probably damaging	1.00
R4689:Abcc10	UTSW	17	46,634,996 (GRCm39)	missense	probably benign	0.00
R4778:Abcc10	UTSW	17	46,615,342 (GRCm39)	missense	probably damaging	1.00
R5364:Abcc10	UTSW	17	46,616,577 (GRCm39)	missense	probably benign	0.25
R5384:Abcc10	UTSW	17	46,615,361 (GRCm39)	missense	possibly damaging	0.83
R5509:Abcc10	UTSW	17	46,635,185 (GRCm39)	missense	probably benign	0.01
R5568:Abcc10	UTSW	17	46,614,834 (GRCm39)	splice site	probably null
R5798:Abcc10	UTSW	17	46,616,929 (GRCm39)	nonsense	probably null
R5906:Abcc10	UTSW	17	46,627,485 (GRCm39)	missense	probably benign	0.02
R5908:Abcc10	UTSW	17	46,624,730 (GRCm39)	missense	probably damaging	1.00
R5942:Abcc10	UTSW	17	46,623,333 (GRCm39)	missense	probably benign	0.02
R5968:Abcc10	UTSW	17	46,621,077 (GRCm39)	missense	probably benign
R6038:Abcc10	UTSW	17	46,615,286 (GRCm39)	missense	probably damaging	1.00
R6038:Abcc10	UTSW	17	46,615,286 (GRCm39)	missense	probably damaging	1.00
R6109:Abcc10	UTSW	17	46,621,303 (GRCm39)	missense	probably benign	0.00
R6623:Abcc10	UTSW	17	46,634,388 (GRCm39)	missense	probably damaging	1.00
R6851:Abcc10	UTSW	17	46,623,345 (GRCm39)	missense	probably benign
R6927:Abcc10	UTSW	17	46,635,317 (GRCm39)	missense	probably damaging	1.00
R7176:Abcc10	UTSW	17	46,635,203 (GRCm39)	missense	probably benign	0.02
R7314:Abcc10	UTSW	17	46,626,330 (GRCm39)	missense	probably damaging	0.98
R7463:Abcc10	UTSW	17	46,634,698 (GRCm39)	missense	probably damaging	1.00
R7527:Abcc10	UTSW	17	46,623,830 (GRCm39)	missense	possibly damaging	0.58
R7584:Abcc10	UTSW	17	46,626,304 (GRCm39)	splice site	probably null
R7862:Abcc10	UTSW	17	46,626,458 (GRCm39)	nonsense	probably null
R7883:Abcc10	UTSW	17	46,618,027 (GRCm39)	missense	probably benign	0.03
R7896:Abcc10	UTSW	17	46,635,235 (GRCm39)	missense	probably benign	0.08
R7897:Abcc10	UTSW	17	46,634,999 (GRCm39)	missense	probably benign	0.00
R8316:Abcc10	UTSW	17	46,638,735 (GRCm39)	missense	probably damaging	0.99
R8354:Abcc10	UTSW	17	46,635,103 (GRCm39)	missense	possibly damaging	0.75
R8414:Abcc10	UTSW	17	46,623,273 (GRCm39)	missense	probably benign	0.28
R8454:Abcc10	UTSW	17	46,635,103 (GRCm39)	missense	possibly damaging	0.75
R8977:Abcc10	UTSW	17	46,624,593 (GRCm39)	missense	probably benign	0.19
R9432:Abcc10	UTSW	17	46,634,710 (GRCm39)	missense	possibly damaging	0.72
R9473:Abcc10	UTSW	17	46,617,609 (GRCm39)	missense	probably benign	0.10
R9790:Abcc10	UTSW	17	46,633,185 (GRCm39)	missense	probably damaging	1.00
R9791:Abcc10	UTSW	17	46,633,185 (GRCm39)	missense	probably damaging	1.00
X0020:Abcc10	UTSW	17	46,635,046 (GRCm39)	missense	probably damaging	0.98
Z1176:Abcc10	UTSW	17	46,635,188 (GRCm39)	missense	probably benign	0.00
Z1176:Abcc10	UTSW	17	46,624,626 (GRCm39)	missense	probably damaging	0.97
Z1177:Abcc10	UTSW	17	46,617,988 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16