Mutagenetix > Incidental Mutations

Incidental Mutation 'R4778:Abcc10'

368108

Institutional Source

Beutler Lab

Gene Symbol

Abcc10

Ensembl Gene

ENSMUSG00000032842

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 10

Synonyms

Mrp7

MMRRC Submission

042414-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46303221-46328352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46304416 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1349 (N1349S)

Ref Sequence

ENSEMBL: ENSMUSP00000131843 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000047970
AA Change: N1349S

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

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: N1349S

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 damaging
Transcript: ENSMUST00000095261
AA Change: N1308S

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

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: N1308S

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 damaging
Transcript: ENSMUST00000167360
AA Change: N1349S

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

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: N1349S

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: 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

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

Meta Mutation Damage Score

0.9413

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	C	4: 107,891,998	V64A	probably damaging	Het
4932438A13Rik	T	A	3: 36,937,065	M897K	possibly damaging	Het
AF529169	T	A	9: 89,603,102	I81F	probably damaging	Het
Ahnak	T	C	19: 9,011,975	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,532,093	T156S	probably benign	Het
Card11	G	T	5: 140,883,782		probably null	Het
Cdh3	T	A	8: 106,543,826	I445N	probably damaging	Het
Csrp3	T	G	7: 48,832,563	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Erc1	A	T	6: 119,797,337		probably null	Het
Fat1	T	C	8: 45,038,326	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,494,646	D87G	probably damaging	Het
Gm1123	T	C	9: 99,018,507	I99V	probably benign	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm5045	T	A	15: 59,211,403		noncoding transcript	Het
Hand1	T	C	11: 57,831,623	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,056,080	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583	R726*	probably null	Het
Myo16	T	A	8: 10,569,694	V1415E	probably damaging	Het
Myof	T	C	19: 37,949,563	D901G	probably damaging	Het
Naip1	A	G	13: 100,426,648	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,731,591	Y171*	probably null	Het
Notch4	C	T	17: 34,582,511	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,556,291	D1038E	probably benign	Het
Olfr484	A	T	7: 108,124,480	I261N	possibly damaging	Het
Olfr694	A	C	7: 106,689,667	S21R	probably damaging	Het
Osbpl10	C	T	9: 115,109,530	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,959,145	G252R	probably damaging	Het
Pole	T	G	5: 110,330,832	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,128,620	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,591,022	T1551A	probably benign	Het
Rasgrf2	A	G	13: 91,983,661	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,785	N394K	possibly damaging	Het
Rpp14	T	A	14: 8,090,203	D42E	probably benign	Het
Rrp8	T	A	7: 105,737,274		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Snx1	T	C	9: 66,101,416		probably benign	Het
Stau1	A	T	2: 166,963,522	N51K	probably benign	Het
Tdrd5	T	A	1: 156,255,587	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468	D750G	probably damaging	Het
Tmem43	T	C	6: 91,482,255	V236A	probably damaging	Het
Tmem89	T	C	9: 108,915,375	V112A	probably damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Vmn1r41	A	C	6: 89,747,275	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,943,593	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,646,807	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,537,655	S346T	probably benign	Het

Other mutations in Abcc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Abcc10	APN	17	46323745	missense	probably damaging	1.00
IGL01115:Abcc10	APN	17	46310426	missense	probably benign
IGL01380:Abcc10	APN	17	46324022	missense	possibly damaging	0.90
IGL01476:Abcc10	APN	17	46327937	utr 5 prime	probably benign
IGL01723:Abcc10	APN	17	46313745	missense	probably damaging	1.00
IGL01867:Abcc10	APN	17	46324438	missense	probably benign	0.07
IGL02065:Abcc10	APN	17	46312901	missense	possibly damaging	0.60
IGL02233:Abcc10	APN	17	46324159	unclassified	probably null
IGL03394:Abcc10	APN	17	46324351	missense	probably damaging	1.00
Decrepit	UTSW	17	46324391	missense	probably damaging	1.00
shrivelled	UTSW	17	46312419	missense	probably benign
PIT4514001:Abcc10	UTSW	17	46305648	missense	probably benign
R0366:Abcc10	UTSW	17	46324798	nonsense	probably null
R0437:Abcc10	UTSW	17	46312919	splice site	probably null
R0437:Abcc10	UTSW	17	46312920	splice site	probably benign
R0549:Abcc10	UTSW	17	46322290	missense	probably damaging	1.00
R0580:Abcc10	UTSW	17	46305956	splice site	probably null
R1056:Abcc10	UTSW	17	46303954	missense	possibly damaging	0.60
R1426:Abcc10	UTSW	17	46324435	missense	probably damaging	0.97
R1595:Abcc10	UTSW	17	46322238	missense	probably damaging	1.00
R1745:Abcc10	UTSW	17	46312433	missense	probably benign
R1856:Abcc10	UTSW	17	46306603	missense	probably damaging	1.00
R1968:Abcc10	UTSW	17	46322199	missense	probably damaging	1.00
R2070:Abcc10	UTSW	17	46303565	missense	probably benign
R2071:Abcc10	UTSW	17	46303565	missense	probably benign
R2255:Abcc10	UTSW	17	46305635	missense	probably benign	0.18
R2425:Abcc10	UTSW	17	46310157	missense	probably damaging	1.00
R4116:Abcc10	UTSW	17	46323891	missense	possibly damaging	0.50
R4510:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4511:Abcc10	UTSW	17	46307210	missense	probably damaging	0.98
R4645:Abcc10	UTSW	17	46324774	missense	probably damaging	1.00
R4689:Abcc10	UTSW	17	46324070	missense	probably benign	0.00
R5364:Abcc10	UTSW	17	46305651	missense	probably benign	0.25
R5384:Abcc10	UTSW	17	46304435	missense	possibly damaging	0.83
R5509:Abcc10	UTSW	17	46324259	missense	probably benign	0.01
R5568:Abcc10	UTSW	17	46303908	splice site	probably null
R5798:Abcc10	UTSW	17	46306003	nonsense	probably null
R5906:Abcc10	UTSW	17	46316559	missense	probably benign	0.02
R5908:Abcc10	UTSW	17	46313804	missense	probably damaging	1.00
R5942:Abcc10	UTSW	17	46312407	missense	probably benign	0.02
R5968:Abcc10	UTSW	17	46310151	missense	probably benign
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6038:Abcc10	UTSW	17	46304360	missense	probably damaging	1.00
R6109:Abcc10	UTSW	17	46310377	missense	probably benign	0.00
R6623:Abcc10	UTSW	17	46323462	missense	probably damaging	1.00
R6851:Abcc10	UTSW	17	46312419	missense	probably benign
R6927:Abcc10	UTSW	17	46324391	missense	probably damaging	1.00
R7176:Abcc10	UTSW	17	46324277	missense	probably benign	0.02
R7314:Abcc10	UTSW	17	46315404	missense	probably damaging	0.98
R7463:Abcc10	UTSW	17	46323772	missense	probably damaging	1.00
R7527:Abcc10	UTSW	17	46312904	missense	possibly damaging	0.58
R7584:Abcc10	UTSW	17	46315378	splice site	probably null
R7862:Abcc10	UTSW	17	46315532	nonsense	probably null
R7883:Abcc10	UTSW	17	46307101	missense	probably benign	0.03
R7896:Abcc10	UTSW	17	46324309	missense	probably benign	0.08
R7897:Abcc10	UTSW	17	46324073	missense	probably benign	0.00
R7945:Abcc10	UTSW	17	46315532	nonsense	probably null
R7966:Abcc10	UTSW	17	46307101	missense	probably benign	0.03
R7979:Abcc10	UTSW	17	46324309	missense	probably benign	0.08
R7980:Abcc10	UTSW	17	46324073	missense	probably benign	0.00
X0020:Abcc10	UTSW	17	46324120	missense	probably damaging	0.98
Z1176:Abcc10	UTSW	17	46313700	missense	probably damaging	0.97
Z1176:Abcc10	UTSW	17	46324262	missense	probably benign	0.00
Z1177:Abcc10	UTSW	17	46307062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAGCAGCTGTCTCTGTC -3'
(R):5'- TGACTCACTGAGGATTTAATGGATG -3'

Sequencing Primer
(F):5'- AGCAGCTGTCTCTGTCCTAGG -3'
(R):5'- CACTGAGGATTTAATGGATGTAGGG -3'

Posted On

2015-12-29