Mutagenetix > Incidental Mutation

Incidental Mutation 'R5798:Abcc10'

447326

Institutional Source

Beutler Lab

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C member 10

Synonyms

Mrp7

MMRRC Submission

043210-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5798 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

46614146-46638954 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 46616929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1226 (Y1226*)

Ref Sequence

ENSEMBL: ENSMUSP00000131843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000061722] [ENSMUST00000095261] [ENSMUST00000166280] [ENSMUST00000166617] [ENSMUST00000167360] [ENSMUST00000170271] [ENSMUST00000188223] [ENSMUST00000171584]

AlphaFold

Q8R4P9

Predicted Effect

probably null
Transcript: ENSMUST00000047970
AA Change: Y1226*

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: Y1226*

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: ENSMUST00000061722

SMART Domains

Protein: ENSMUSP00000058470
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
EGF_like	71	101	3.16e1	SMART
EGF	102	132	7.76e-3	SMART
EGF	137	172	2.14e-5	SMART
EGF	177	215	3.79e-6	SMART
EGF_CA	217	253	3.1e-11	SMART
EGF_CA	255	291	9.47e-7	SMART
transmembrane domain	349	371	N/A	INTRINSIC
low complexity region	383	394	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000095261
AA Change: Y1185*

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: Y1185*

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

probably benign
Transcript: ENSMUST00000166280

SMART Domains

Protein: ENSMUSP00000126993
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART
EGF	94	129	2.14e-5	SMART
EGF	134	172	3.79e-6	SMART
EGF_CA	174	210	3.1e-11	SMART
EGF_CA	212	248	9.47e-7	SMART
transmembrane domain	306	328	N/A	INTRINSIC
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166617

SMART Domains

Protein: ENSMUSP00000128897
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART
EGF	94	129	2.14e-5	SMART
EGF	134	172	3.79e-6	SMART
EGF_CA	174	210	3.1e-11	SMART
EGF_CA	212	248	9.47e-7	SMART
transmembrane domain	306	328	N/A	INTRINSIC
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167360
AA Change: Y1226*

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: Y1226*

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: ENSMUST00000170271

SMART Domains

Protein: ENSMUSP00000132349
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
EGF_like	28	58	3.16e1	SMART
EGF	59	89	7.76e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188223

SMART Domains

Protein: ENSMUSP00000141164
Gene: ENSMUSG00000047428

Domain	Start	End	E-Value	Type
Pfam:hEGF	88	100	7.9e-4	PFAM

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankle2	A	G	5: 110,399,401 (GRCm39)	Y587C	probably damaging	Het
Ankrd52	T	A	10: 128,223,479 (GRCm39)	M697K	probably benign	Het
Arhgef40	G	T	14: 52,234,489 (GRCm39)	A931S	probably damaging	Het
Atp9a	A	G	2: 168,532,884 (GRCm39)		probably null	Het
Ccdc169	T	C	3: 55,047,545 (GRCm39)	V12A	possibly damaging	Het
Ces3b	T	A	8: 105,815,072 (GRCm39)	C284S	probably damaging	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Ecel1	A	T	1: 87,079,205 (GRCm39)	M491K	probably damaging	Het
Gnaz	C	T	10: 74,850,703 (GRCm39)	R243W	probably damaging	Het
Homer1	C	A	13: 93,538,603 (GRCm39)	R311S	probably damaging	Het
Myo5c	A	G	9: 75,191,480 (GRCm39)	D1118G	probably benign	Het
Or14j10	A	G	17: 37,934,881 (GRCm39)	V215A	probably benign	Het
Or52e7	A	C	7: 104,685,344 (GRCm39)	K313T	probably benign	Het
Pecam1	C	T	11: 106,586,658 (GRCm39)	E185K	possibly damaging	Het
Rfx2	A	T	17: 57,111,362 (GRCm39)	V70E	possibly damaging	Het
Sdk2	G	A	11: 113,717,942 (GRCm39)	T1474M	probably damaging	Het
Slc39a12	G	A	2: 14,454,637 (GRCm39)	A516T	probably damaging	Het
Tanc2	TGCAGCAGCAGCAGCAGCAGCAGC	TGCAGCAGCAGCAGCAGCAGC	11: 105,812,681 (GRCm39)		probably benign	Het
Timd2	T	C	11: 46,568,064 (GRCm39)	I243M	probably benign	Het
Vmn2r108	A	T	17: 20,692,545 (GRCm39)	S104T	probably benign	Het
Vmn2r56	T	C	7: 12,446,892 (GRCm39)	N420S	probably benign	Het
Zfp148	T	C	16: 33,316,513 (GRCm39)	I353T	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AACAACAGGGCTGGACTGAC -3'
(R):5'- ACACTTCTCAGTACCCAGGGTC -3'

Sequencing Primer
(F):5'- CACAGTTAAGAATAGCAGCAGTC -3'
(R):5'- TCAGTACCCAGGGTCTCCTAG -3'

Posted On

2016-12-15