Incidental Mutation 'PIT4514001:Abcc10'
ID 556287
Institutional Source Beutler Lab
Gene Symbol Abcc10
Ensembl Gene ENSMUSG00000032842
Gene Name ATP-binding cassette, sub-family C member 10
Synonyms Mrp7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # PIT4514001 (G1)
Quality Score 115.008
Status Not validated
Chromosome 17
Chromosomal Location 46614146-46638954 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46616574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1247 (I1247F)
Ref Sequence ENSEMBL: ENSMUSP00000038041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047970] [ENSMUST00000061722] [ENSMUST00000095261] [ENSMUST00000166280] [ENSMUST00000166617] [ENSMUST00000167360] [ENSMUST00000170271] [ENSMUST00000171584] [ENSMUST00000188223]
AlphaFold Q8R4P9
Predicted Effect probably benign
Transcript: ENSMUST00000047970
AA Change: I1247F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038041
Gene: ENSMUSG00000032842
AA Change: I1247F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: I1206F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092895
Gene: ENSMUSG00000032842
AA Change: I1206F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: I1247F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131843
Gene: ENSMUSG00000032842
AA Change: I1247F

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:hEGF 88 100 7.9e-4 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,001,328 (GRCm39) probably null Het
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Acap3 G A 4: 155,987,835 (GRCm39) A524T probably benign Het
Adcy10 T A 1: 165,384,360 (GRCm39) N1040K probably benign Het
Adrb2 T C 18: 62,312,798 (GRCm39) D9G probably benign Het
Aldh1a7 T C 19: 20,679,604 (GRCm39) T391A probably benign Het
Bcam A G 7: 19,497,991 (GRCm39) V344A probably benign Het
Birc7 T A 2: 180,573,099 (GRCm39) I172N possibly damaging Het
Cfap126 G A 1: 170,952,881 (GRCm39) D45N probably damaging Het
Cfap299 T A 5: 98,949,730 (GRCm39) H221Q probably benign Het
Cit G A 5: 116,135,913 (GRCm39) probably null Het
Col26a1 A G 5: 136,780,579 (GRCm39) V295A probably benign Het
Efcab15 T C 11: 103,091,960 (GRCm39) D27G probably benign Het
Epha7 C T 4: 28,961,355 (GRCm39) Q867* probably null Het
Fn1 A G 1: 71,667,615 (GRCm39) S793P probably benign Het
Foxb1 T A 9: 69,667,503 (GRCm39) Y9F probably damaging Het
Gpc1 T A 1: 92,785,279 (GRCm39) M406K probably benign Het
Gsg1 T C 6: 135,214,574 (GRCm39) T312A probably benign Het
Hmcn1 T A 1: 150,545,238 (GRCm39) I2790F possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,372,979 (GRCm39) probably null Het
Mcph1 A G 8: 18,681,906 (GRCm39) K348E probably damaging Het
Or10al6 T A 17: 38,082,758 (GRCm39) N71K probably damaging Het
Or8d4 T C 9: 40,038,595 (GRCm39) I221V probably damaging Het
Pik3cg T A 12: 32,254,902 (GRCm39) R362W probably damaging Het
Pkp3 T C 7: 140,669,623 (GRCm39) L765P probably damaging Het
Plxna2 A T 1: 194,477,245 (GRCm39) I1252F probably benign Het
Prpf8 T C 11: 75,387,181 (GRCm39) F1154S possibly damaging Het
Scn7a A G 2: 66,514,523 (GRCm39) F1084L probably damaging Het
Shmt1 G A 11: 60,695,173 (GRCm39) S47L probably damaging Het
Snap91 T C 9: 86,761,486 (GRCm39) K40R possibly damaging Het
Spag17 A T 3: 99,920,527 (GRCm39) T421S possibly damaging Het
Speer4f1 T A 5: 17,683,754 (GRCm39) N139K possibly damaging Het
Syne2 T G 12: 76,151,789 (GRCm39) N1883K probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Tmem39b A C 4: 129,578,290 (GRCm39) N310K possibly damaging Het
Trim3 T C 7: 105,267,417 (GRCm39) T321A probably benign Het
Vmn2r124 T C 17: 18,293,974 (GRCm39) I687T probably benign Het
Zbtb8a T C 4: 129,251,523 (GRCm39) D316G probably benign Het
Zfp639 A G 3: 32,574,409 (GRCm39) I345V possibly damaging Het
Zfp764 T C 7: 127,003,913 (GRCm39) H406R probably benign Het
Other mutations in Abcc10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCCACATTGTCCAGGAGCAC -3'
(R):5'- GACTGCTGCTATTCTTAACTGTGC -3'

Sequencing Primer
(F):5'- ATTGTCCAGGAGCACTCGCC -3'
(R):5'- AACTGTGCCTCTCGCCAC -3'
Posted On 2019-06-07