Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Abcc10'

206183

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

039880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1856 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

46303221-46328352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46306603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1128 (S1128C)

Ref Sequence

ENSEMBL: ENSMUSP00000092895 (fasta)

Gene Model

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

AlphaFold

Q8R4P9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047970
AA Change: S1169C

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: S1169C

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: S1128C

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

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: S1128C

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

possibly damaging
Transcript: ENSMUST00000167360
AA Change: S1169C

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: S1169C

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	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	splice site	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
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
R4778:Abcc10	UTSW	17	46304416	missense	probably damaging	1.00
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
R8316:Abcc10	UTSW	17	46327809	missense	probably damaging	0.99
R8354:Abcc10	UTSW	17	46324177	missense	possibly damaging	0.75
R8414:Abcc10	UTSW	17	46312347	missense	probably benign	0.28
R8454:Abcc10	UTSW	17	46324177	missense	possibly damaging	0.75
R8977:Abcc10	UTSW	17	46313667	missense	probably benign	0.19
R9432:Abcc10	UTSW	17	46323784	missense	possibly damaging	0.72
R9473:Abcc10	UTSW	17	46306683	missense	probably benign	0.10
R9790:Abcc10	UTSW	17	46322259	missense	probably damaging	1.00
R9791:Abcc10	UTSW	17	46322259	missense	probably damaging	1.00
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'- TGATGACACATCCTCTCAGGG -3'
(R):5'- TGGGTATGTAGGTCAGTCCCAG -3'

Sequencing Primer
(F):5'- ATCCTCTCAGGGATCACTGGTG -3'
(R):5'- TATGTAGGTCAGTCCCAGGGAAG -3'

Posted On

2014-06-23