Mutagenetix > Incidental Mutation

Incidental Mutation 'R6623:Abcc10'

524630

Institutional Source

Beutler Lab

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C member 10

Synonyms

Mrp7

MMRRC Submission

044745-MU

Accession Numbers

Essential gene?

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

Stock #

R6623 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46614146-46638954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46634388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 460 (K460E)

Ref Sequence

ENSEMBL: ENSMUSP00000092895 (fasta)

Gene Model

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

AlphaFold

Q8R4P9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047970
AA Change: K501E

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: K501E

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 damaging
Transcript: ENSMUST00000095261
AA Change: K460E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: K460E

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

possibly damaging
Transcript: ENSMUST00000167360
AA Change: K501E

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: K501E

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 benign
Transcript: ENSMUST00000168490
AA Change: K39E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132760
Gene: ENSMUSG00000032842
AA Change: K39E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170168

Predicted Effect

probably benign
Transcript: ENSMUST00000171584

SMART Domains

Protein: ENSMUSP00000132561
Gene: ENSMUSG00000032842

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

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (29/29)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	C	11: 84,262,325 (GRCm39)		probably null	Het
Adamts1	A	G	16: 85,592,525 (GRCm39)	S628P	probably benign	Het
Ankrd13a	A	G	5: 114,924,818 (GRCm39)	N101S	probably benign	Het
Asic5	G	A	3: 81,915,892 (GRCm39)	V281M	probably damaging	Het
Atxn7	T	C	14: 14,099,972 (GRCm38)	S553P	probably damaging	Het
Cstdc2	A	T	2: 148,692,682 (GRCm39)	I40K	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Homo
Hmcn1	A	G	1: 150,634,057 (GRCm39)	F843S	probably benign	Het
Igkv10-96	T	G	6: 68,609,158 (GRCm39)	S46R	probably damaging	Het
Itfg2	G	T	6: 128,388,620 (GRCm39)	A289D	probably damaging	Het
Klc1	C	A	12: 111,772,475 (GRCm39)	N597K	probably damaging	Het
Lnx2	A	G	5: 146,961,297 (GRCm39)	V545A	probably damaging	Het
Map3k11	A	G	19: 5,745,631 (GRCm39)	I344V	probably damaging	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,200,723 (GRCm39)	A317S	probably benign	Het
Ncoa2	A	T	1: 13,251,521 (GRCm39)	C251S	probably damaging	Het
Or52i2	T	G	7: 102,319,241 (GRCm39)	M38R	possibly damaging	Het
Pcdhb12	C	T	18: 37,570,711 (GRCm39)	T619I	possibly damaging	Het
Plxna1	A	T	6: 89,299,753 (GRCm39)	M1672K	probably damaging	Het
Prl	G	T	13: 27,245,492 (GRCm39)	V72L	probably benign	Het
Prokr2	G	T	2: 132,215,494 (GRCm39)	N161K	probably damaging	Het
Ryr2	T	C	13: 11,724,951 (GRCm39)	D2454G	probably damaging	Het
Slc2a12	T	A	10: 22,540,799 (GRCm39)	M218K	probably damaging	Het
Sorcs3	C	T	19: 48,776,944 (GRCm39)	A992V	probably benign	Het
Stxbp2	T	C	8: 3,682,561 (GRCm39)	I50T	probably damaging	Het
Supt20	A	G	3: 54,625,715 (GRCm39)	I570M	possibly damaging	Het
Sv2b	T	A	7: 74,856,132 (GRCm39)	I53F	probably damaging	Het
Vmn1r113	T	A	7: 20,521,991 (GRCm39)	M261K	probably benign	Het
Vmn1r217	T	A	13: 23,298,846 (GRCm39)	I19F	possibly damaging	Het
Vmn2r45	T	C	7: 8,474,500 (GRCm39)	T843A	probably benign	Het
Vmn2r69	T	A	7: 85,056,309 (GRCm39)	I610L	possibly damaging	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
IGL02233:Abcc10	APN	17	46,635,085 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCCTCTTAGCTGGGAAAGGAC -3'
(R):5'- TACGGCACAAGGATGCACG -3'

Sequencing Primer
(F):5'- GCGAGTGAAATCAGCCCTTC -3'
(R):5'- CCTTCGGCCATTTGGGG -3'

Posted On

2018-06-22