Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Abcc10'

608918

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46303221-46328352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46307101 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1082 (V1082A)

Ref Sequence

ENSEMBL: ENSMUSP00000038041 (fasta)

Gene Model

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

AlphaFold

Q8R4P9

Predicted Effect

probably benign
Transcript: ENSMUST00000047970
AA Change: V1082A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: V1082A

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 benign
Transcript: ENSMUST00000095261
AA Change: V1041A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: V1041A

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 benign
Transcript: ENSMUST00000167360
AA Change: V1082A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: V1082A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,850,647	W5R	unknown	Het
4430402I18Rik	A	C	19: 28,928,613	S297A	probably benign	Het
Abcb6	A	T	1: 75,178,016	S258R	possibly damaging	Het
Adrb2	A	G	18: 62,179,376	V126A	probably damaging	Het
Apol11a	A	G	15: 77,516,574	E87G	probably damaging	Het
Arhgap45	T	A	10: 80,027,589	C755*	probably null	Het
Arl13b	A	T	16: 62,827,266	I93K	probably damaging	Het
Aspm	A	G	1: 139,478,667	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471	I381V	probably damaging	Het
Atxn2	A	G	5: 121,802,117	H985R	possibly damaging	Het
Bms1	G	T	6: 118,388,774	N1150K	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camta2	T	C	11: 70,675,211	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cep152	G	A	2: 125,613,058	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,964,014		probably null	Het
Cttn	C	T	7: 144,445,818	V338I	probably benign	Het
Dab2ip	G	A	2: 35,720,206	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,140,397	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,561,382	D612E	probably damaging	Het
Fat2	T	C	11: 55,253,364		probably null	Het
Fat4	G	A	3: 38,981,819	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,688,406	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,733,891	S518T	probably damaging	Het
Fzr1	G	A	10: 81,368,635	T377M	probably damaging	Het
Gcnt3	T	A	9: 70,034,171	I372F	probably damaging	Het
Gm10577	A	T	4: 101,020,522	Y59N	unknown	Het
Gm826	A	G	2: 160,327,293	L32P	unknown	Het
Grid1	T	G	14: 35,450,302		probably null	Het
Hid1	T	A	11: 115,354,609	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,622,140	V58A	probably benign	Het
Iqcj	A	G	3: 68,047,308	K49E	probably damaging	Het
Itpk1	A	G	12: 102,606,175	V93A	probably benign	Het
Kcnt2	A	G	1: 140,523,150	I722M	probably damaging	Het
Klhl36	T	C	8: 119,874,478	V412A	possibly damaging	Het
Krt18	G	A	15: 102,028,450	V58M	possibly damaging	Het
Lats2	T	C	14: 57,697,200	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,665,129	I4095N		Het
Map1a	A	G	2: 121,305,372	E2223G	probably damaging	Het
Med25	A	G	7: 44,891,808	F94L	possibly damaging	Het
Mertk	A	G	2: 128,776,345	I499V	probably benign	Het
Mrps12	A	G	7: 28,740,143	L49P	probably benign	Het
Nwd1	T	A	8: 72,667,126	V339D	probably damaging	Het
Obscn	G	A	11: 59,070,009	Q3159*	probably null	Het
Patj	G	A	4: 98,611,135	V1349I	probably benign	Het
Pcdha8	T	A	18: 36,993,143	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939		probably null	Het
Pdzd7	A	C	19: 45,030,240	I600S	probably damaging	Het
Pgpep1l	G	A	7: 68,239,149	R45*	probably null	Het
Pik3c3	T	C	18: 30,274,363	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,529,126	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,884,903		probably null	Het
Ppan	T	A	9: 20,891,481	I311N	probably benign	Het
Ppih	C	A	4: 119,310,790	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,834,715	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,856,512	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,731,558	K53R	probably benign	Het
Ptprn	A	T	1: 75,262,363	F9L	probably damaging	Het
Rgl3	T	C	9: 21,981,427	I288V	probably benign	Het
Sds	A	G	5: 120,479,213	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,858,749		probably null	Het
Sis	A	T	3: 72,920,996	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,603,664	D577E	probably benign	Het
Slc25a10	T	A	11: 120,494,514	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,556,985	I440T	probably damaging	Het
St6galnac6	A	G	2: 32,614,929	N151S	probably benign	Het
Taf4	G	T	2: 179,929,295	L742M	probably damaging	Het
Tctn1	A	G	5: 122,264,312	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,595,030		probably null	Het
Tmem270	A	G	5: 134,902,827	V87A	possibly damaging	Het
Tpo	T	C	12: 30,103,170	H395R	probably damaging	Het
Tufm	T	C	7: 126,488,942	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,516,764		probably null	Het
Tulp3	G	A	6: 128,326,844	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,645,217	D194G	possibly damaging	Het
Vill	C	A	9: 119,065,521	C415*	probably null	Het
Zfp799	A	G	17: 32,820,282	C337R	probably damaging	Het
Zhx2	A	G	15: 57,821,874	E213G	possibly damaging	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
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
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
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'- AGACTGCACTCCTGTCCTTG -3'
(R):5'- GGTGACTTTCTATGACTCCACAC -3'

Sequencing Primer
(F):5'- GTGACCTGTTCTGTATGCTCC -3'
(R):5'- ATGACTCCACACCTTCCGG -3'

Posted On

2019-12-20