Incidental Mutation 'R4052:Abcc6'
| ID |
314200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcc6
|
| Ensembl Gene |
ENSMUSG00000030834 |
| Gene Name |
ATP-binding cassette, sub-family C member 6 |
| Synonyms |
DCC, Mrp6, Dyscalc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
R4052 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45625804-45679915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 45635987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1020
(L1020R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002850]
|
| AlphaFold |
Q9R1S7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002850
AA Change: L1020R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: L1020R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
44 |
61 |
N/A |
INTRINSIC |
|
transmembrane domain
|
81 |
100 |
N/A |
INTRINSIC |
|
transmembrane domain
|
110 |
129 |
N/A |
INTRINSIC |
|
transmembrane domain
|
142 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
309 |
580 |
3.5e-29 |
PFAM |
|
AAA
|
653 |
828 |
1.19e-9 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
942 |
1211 |
2.5e-32 |
PFAM |
|
AAA
|
1286 |
1473 |
1.71e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.9464 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
| 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, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
| Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
| Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
| Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,885,533 (GRCm39) |
W429R |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,803,963 (GRCm39) |
F89L |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Rnf207 |
C |
A |
4: 152,395,894 (GRCm39) |
Q533H |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,685 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
| Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly damaging |
Het |
|
| Other mutations in Abcc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Abcc6
|
APN |
7 |
45,652,096 (GRCm39) |
splice site |
probably benign |
|
|
IGL01731:Abcc6
|
APN |
7 |
45,652,034 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01743:Abcc6
|
APN |
7 |
45,646,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01757:Abcc6
|
APN |
7 |
45,639,705 (GRCm39) |
splice site |
probably benign |
|
|
IGL01895:Abcc6
|
APN |
7 |
45,678,482 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01942:Abcc6
|
APN |
7 |
45,635,997 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02251:Abcc6
|
APN |
7 |
45,626,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02277:Abcc6
|
APN |
7 |
45,650,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02548:Abcc6
|
APN |
7 |
45,654,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03063:Abcc6
|
APN |
7 |
45,665,856 (GRCm39) |
missense |
probably benign |
|
|
IGL03092:Abcc6
|
APN |
7 |
45,635,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Abcc6
|
APN |
7 |
45,631,661 (GRCm39) |
unclassified |
probably benign |
|
|
R0057:Abcc6
|
UTSW |
7 |
45,669,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0944:Abcc6
|
UTSW |
7 |
45,664,929 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1019:Abcc6
|
UTSW |
7 |
45,663,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1183:Abcc6
|
UTSW |
7 |
45,634,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1543:Abcc6
|
UTSW |
7 |
45,665,928 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1550:Abcc6
|
UTSW |
7 |
45,654,668 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1725:Abcc6
|
UTSW |
7 |
45,641,781 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1907:Abcc6
|
UTSW |
7 |
45,663,593 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1908:Abcc6
|
UTSW |
7 |
45,669,558 (GRCm39) |
splice site |
probably null |
|
|
R1909:Abcc6
|
UTSW |
7 |
45,669,558 (GRCm39) |
splice site |
probably null |
|
|
R2138:Abcc6
|
UTSW |
7 |
45,630,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Abcc6
|
UTSW |
7 |
45,648,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2402:Abcc6
|
UTSW |
7 |
45,664,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3983:Abcc6
|
UTSW |
7 |
45,644,713 (GRCm39) |
missense |
probably benign |
|
|
R4013:Abcc6
|
UTSW |
7 |
45,668,104 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4051:Abcc6
|
UTSW |
7 |
45,635,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Abcc6
|
UTSW |
7 |
45,635,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4362:Abcc6
|
UTSW |
7 |
45,648,256 (GRCm39) |
splice site |
probably benign |
|
|
R4385:Abcc6
|
UTSW |
7 |
45,644,752 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4399:Abcc6
|
UTSW |
7 |
45,652,031 (GRCm39) |
missense |
probably benign |
|
|
R4479:Abcc6
|
UTSW |
7 |
45,654,663 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4480:Abcc6
|
UTSW |
7 |
45,654,663 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4780:Abcc6
|
UTSW |
7 |
45,646,115 (GRCm39) |
missense |
probably benign |
|
|
R4791:Abcc6
|
UTSW |
7 |
45,631,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Abcc6
|
UTSW |
7 |
45,630,414 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4898:Abcc6
|
UTSW |
7 |
45,639,111 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4905:Abcc6
|
UTSW |
7 |
45,644,649 (GRCm39) |
missense |
probably benign |
|
|
R4941:Abcc6
|
UTSW |
7 |
45,661,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5040:Abcc6
|
UTSW |
7 |
45,669,578 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5128:Abcc6
|
UTSW |
7 |
45,639,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5284:Abcc6
|
UTSW |
7 |
45,630,483 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5328:Abcc6
|
UTSW |
7 |
45,641,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5459:Abcc6
|
UTSW |
7 |
45,631,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Abcc6
|
UTSW |
7 |
45,638,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6178:Abcc6
|
UTSW |
7 |
45,678,468 (GRCm39) |
missense |
probably benign |
|
|
R6228:Abcc6
|
UTSW |
7 |
45,679,680 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6532:Abcc6
|
UTSW |
7 |
45,626,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Abcc6
|
UTSW |
7 |
45,630,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Abcc6
|
UTSW |
7 |
45,654,946 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7067:Abcc6
|
UTSW |
7 |
45,668,114 (GRCm39) |
missense |
probably benign |
|
|
R7553:Abcc6
|
UTSW |
7 |
45,648,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Abcc6
|
UTSW |
7 |
45,644,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Abcc6
|
UTSW |
7 |
45,626,816 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7781:Abcc6
|
UTSW |
7 |
45,655,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Abcc6
|
UTSW |
7 |
45,626,277 (GRCm39) |
nonsense |
probably null |
|
|
R7896:Abcc6
|
UTSW |
7 |
45,626,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Abcc6
|
UTSW |
7 |
45,646,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Abcc6
|
UTSW |
7 |
45,629,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Abcc6
|
UTSW |
7 |
45,634,569 (GRCm39) |
missense |
probably benign |
|
|
R8784:Abcc6
|
UTSW |
7 |
45,652,025 (GRCm39) |
missense |
probably benign |
|
|
R8802:Abcc6
|
UTSW |
7 |
45,658,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8807:Abcc6
|
UTSW |
7 |
45,648,431 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9006:Abcc6
|
UTSW |
7 |
45,665,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9127:Abcc6
|
UTSW |
7 |
45,629,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Abcc6
|
UTSW |
7 |
45,665,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Abcc6
|
UTSW |
7 |
45,629,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Abcc6
|
UTSW |
7 |
45,626,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Abcc6
|
UTSW |
7 |
45,639,765 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9715:Abcc6
|
UTSW |
7 |
45,629,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Abcc6
|
UTSW |
7 |
45,669,660 (GRCm39) |
nonsense |
probably null |
|
|
X0065:Abcc6
|
UTSW |
7 |
45,669,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Abcc6
|
UTSW |
7 |
45,641,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Abcc6
|
UTSW |
7 |
45,629,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAAACCCAGCATAGAGG -3'
(R):5'- CGGCAGTGCATCTATCACATCAC -3'
Sequencing Primer
(F):5'- CCCAGCATAGAGGACCATGAG -3'
(R):5'- ATCACATCACGGTCATCTGGGTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation