Incidental Mutation 'R1786:Abcc4'
ID |
202854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcc4
|
Ensembl Gene |
ENSMUSG00000032849 |
Gene Name |
ATP-binding cassette, sub-family C member 4 |
Synonyms |
MOAT-B, MRP4, D630049P08Rik |
MMRRC Submission |
039817-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1786 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118790761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 749
(R749C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
AlphaFold |
E9Q236 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036554
AA Change: R824C
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849 AA Change: R824C
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
92 |
365 |
4.5e-37 |
PFAM |
AAA
|
437 |
610 |
5.71e-12 |
SMART |
Pfam:ABC_membrane
|
714 |
993 |
4.2e-47 |
PFAM |
AAA
|
1067 |
1251 |
2.02e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166646
AA Change: R749C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849 AA Change: R749C
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
98 |
290 |
4.1e-22 |
PFAM |
AAA
|
362 |
535 |
5.71e-12 |
SMART |
Pfam:ABC_membrane
|
638 |
922 |
4.6e-39 |
PFAM |
AAA
|
992 |
1176 |
2.02e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226703
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228848
|
Meta Mutation Damage Score |
0.9654 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
Validation Efficiency |
97% (98/101) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014] PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]
|
Allele List at MGI |
All alleles(143) : Targeted, knock-out(2) Gene trapped(141)
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
T |
A |
6: 128,553,223 (GRCm39) |
N178I |
probably damaging |
Het |
Acot11 |
T |
C |
4: 106,619,232 (GRCm39) |
E201G |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
Aldh4a1 |
T |
C |
4: 139,371,439 (GRCm39) |
V451A |
probably benign |
Het |
Aopep |
T |
A |
13: 63,357,963 (GRCm39) |
C656S |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
Asb6 |
G |
A |
2: 30,717,088 (GRCm39) |
R46W |
probably damaging |
Het |
Bpifb6 |
T |
C |
2: 153,748,781 (GRCm39) |
F259S |
probably damaging |
Het |
Cad |
T |
A |
5: 31,215,416 (GRCm39) |
F76I |
probably damaging |
Het |
Camk2b |
T |
C |
11: 5,927,880 (GRCm39) |
E390G |
probably benign |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Ccdc170 |
T |
G |
10: 4,469,043 (GRCm39) |
I197S |
probably benign |
Het |
Ccn4 |
G |
A |
15: 66,778,338 (GRCm39) |
C53Y |
probably damaging |
Het |
Cdc20b |
A |
T |
13: 113,217,668 (GRCm39) |
K362N |
probably damaging |
Het |
Cntrl |
CAGAG |
CAG |
2: 35,012,818 (GRCm39) |
|
probably null |
Het |
Cpd |
T |
C |
11: 76,683,624 (GRCm39) |
D1045G |
probably benign |
Het |
Crocc |
T |
C |
4: 140,749,113 (GRCm39) |
D1564G |
probably damaging |
Het |
Csf1r |
A |
T |
18: 61,262,149 (GRCm39) |
M802L |
probably damaging |
Het |
Dctn4 |
T |
C |
18: 60,679,407 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,313,932 (GRCm39) |
Q1916R |
probably damaging |
Het |
Dpysl2 |
A |
G |
14: 67,100,114 (GRCm39) |
|
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,081,084 (GRCm39) |
Y2871H |
probably damaging |
Het |
Fam221b |
T |
A |
4: 43,665,537 (GRCm39) |
H307L |
probably damaging |
Het |
Foxn4 |
C |
T |
5: 114,401,193 (GRCm39) |
D37N |
probably damaging |
Het |
Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
Gm9797 |
T |
C |
10: 11,485,069 (GRCm39) |
|
noncoding transcript |
Het |
Golim4 |
A |
T |
3: 75,815,456 (GRCm39) |
V116D |
probably damaging |
Het |
Gper1 |
C |
T |
5: 139,412,477 (GRCm39) |
P274L |
probably damaging |
Het |
Gpr132 |
A |
G |
12: 112,816,023 (GRCm39) |
S268P |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,337,262 (GRCm39) |
A2447V |
possibly damaging |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
Insrr |
G |
A |
3: 87,717,879 (GRCm39) |
|
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,648,817 (GRCm39) |
|
probably benign |
Het |
Kmt2a |
G |
A |
9: 44,730,972 (GRCm39) |
|
probably benign |
Het |
Lhx6 |
G |
T |
2: 35,977,470 (GRCm39) |
C327* |
probably null |
Het |
Lifr |
A |
G |
15: 7,211,337 (GRCm39) |
D625G |
possibly damaging |
Het |
Llgl1 |
T |
C |
11: 60,598,066 (GRCm39) |
V370A |
probably benign |
Het |
Lman1 |
A |
T |
18: 66,124,653 (GRCm39) |
M362K |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
Lpin3 |
T |
A |
2: 160,738,729 (GRCm39) |
L227* |
probably null |
Het |
Ltv1 |
C |
G |
10: 13,058,280 (GRCm39) |
|
probably benign |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Mettl17 |
A |
T |
14: 52,126,192 (GRCm39) |
|
probably benign |
Het |
Mnx1 |
T |
A |
5: 29,679,187 (GRCm39) |
S299C |
unknown |
Het |
Mov10 |
A |
T |
3: 104,725,432 (GRCm39) |
I59N |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,127,950 (GRCm39) |
I581V |
probably benign |
Het |
Ncdn |
T |
A |
4: 126,639,066 (GRCm39) |
|
probably null |
Het |
Ndufa4 |
A |
T |
6: 11,900,574 (GRCm39) |
V37E |
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,400,412 (GRCm39) |
L546R |
probably benign |
Het |
Nop9 |
T |
C |
14: 55,988,599 (GRCm39) |
L347P |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
Ntrk3 |
G |
A |
7: 78,127,683 (GRCm39) |
|
probably benign |
Het |
Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2z8 |
A |
G |
8: 72,812,280 (GRCm39) |
Y252C |
probably damaging |
Het |
Or8g53 |
A |
T |
9: 39,683,791 (GRCm39) |
C102S |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
Pknox2 |
A |
G |
9: 36,820,980 (GRCm39) |
V294A |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,493,983 (GRCm39) |
V106A |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,207,103 (GRCm39) |
|
probably null |
Het |
Ptgdr |
A |
T |
14: 45,096,036 (GRCm39) |
Y225* |
probably null |
Het |
Ptpn22 |
A |
G |
3: 103,781,368 (GRCm39) |
I90V |
probably damaging |
Het |
Pygb |
C |
T |
2: 150,658,692 (GRCm39) |
T372I |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,468,124 (GRCm39) |
|
probably null |
Het |
Qrich2 |
C |
T |
11: 116,332,275 (GRCm39) |
G2307D |
probably damaging |
Het |
Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
Slfn9 |
T |
A |
11: 82,872,133 (GRCm39) |
I868F |
probably damaging |
Het |
St3gal6 |
T |
C |
16: 58,296,234 (GRCm39) |
D137G |
probably damaging |
Het |
Synj1 |
G |
T |
16: 90,761,405 (GRCm39) |
A687D |
probably damaging |
Het |
Syt4 |
A |
G |
18: 31,576,496 (GRCm39) |
|
probably benign |
Het |
Tacc1 |
A |
T |
8: 25,654,509 (GRCm39) |
N271K |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
Tmem200a |
T |
A |
10: 25,869,825 (GRCm39) |
H148L |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,967,997 (GRCm39) |
|
probably null |
Het |
Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,151,256 (GRCm39) |
M1897K |
probably damaging |
Het |
Uggt2 |
A |
G |
14: 119,298,788 (GRCm39) |
L391P |
probably damaging |
Het |
Uncx |
T |
C |
5: 139,533,302 (GRCm39) |
S456P |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,879,937 (GRCm39) |
Y3004C |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
Zbtb46 |
C |
T |
2: 181,033,224 (GRCm39) |
C479Y |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,968,469 (GRCm39) |
Y503* |
probably null |
Het |
Zdhhc13 |
T |
A |
7: 48,474,392 (GRCm39) |
L548Q |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
Zfp503 |
A |
T |
14: 22,035,588 (GRCm39) |
C443S |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
|
Other mutations in Abcc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00768:Abcc4
|
APN |
14 |
118,766,409 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01152:Abcc4
|
APN |
14 |
118,836,797 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01511:Abcc4
|
APN |
14 |
118,836,753 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01604:Abcc4
|
APN |
14 |
118,765,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01725:Abcc4
|
APN |
14 |
118,738,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01828:Abcc4
|
APN |
14 |
118,790,691 (GRCm39) |
splice site |
probably benign |
|
IGL02174:Abcc4
|
APN |
14 |
118,738,154 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02391:Abcc4
|
APN |
14 |
118,790,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02500:Abcc4
|
APN |
14 |
118,856,338 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02598:Abcc4
|
APN |
14 |
118,905,781 (GRCm39) |
nonsense |
probably null |
|
IGL02668:Abcc4
|
APN |
14 |
118,848,887 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02708:Abcc4
|
APN |
14 |
118,738,213 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02859:Abcc4
|
APN |
14 |
118,753,912 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03249:Abcc4
|
APN |
14 |
118,865,118 (GRCm39) |
splice site |
probably benign |
|
IGL03257:Abcc4
|
APN |
14 |
118,852,623 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03298:Abcc4
|
APN |
14 |
118,848,880 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):Abcc4
|
UTSW |
14 |
118,867,068 (GRCm39) |
nonsense |
probably null |
|
R0743:Abcc4
|
UTSW |
14 |
118,790,700 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0884:Abcc4
|
UTSW |
14 |
118,790,700 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1139:Abcc4
|
UTSW |
14 |
118,738,252 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1238:Abcc4
|
UTSW |
14 |
118,835,051 (GRCm39) |
splice site |
probably benign |
|
R1588:Abcc4
|
UTSW |
14 |
118,771,484 (GRCm39) |
missense |
probably benign |
0.01 |
R1678:Abcc4
|
UTSW |
14 |
118,832,306 (GRCm39) |
missense |
probably benign |
0.08 |
R1785:Abcc4
|
UTSW |
14 |
118,790,761 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Abcc4
|
UTSW |
14 |
118,848,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1961:Abcc4
|
UTSW |
14 |
118,848,868 (GRCm39) |
missense |
probably damaging |
0.98 |
R1993:Abcc4
|
UTSW |
14 |
118,763,694 (GRCm39) |
missense |
probably benign |
0.02 |
R2025:Abcc4
|
UTSW |
14 |
118,790,737 (GRCm39) |
missense |
probably benign |
0.13 |
R3613:Abcc4
|
UTSW |
14 |
118,864,863 (GRCm39) |
critical splice donor site |
probably null |
|
R3864:Abcc4
|
UTSW |
14 |
118,853,827 (GRCm39) |
missense |
probably benign |
|
R4274:Abcc4
|
UTSW |
14 |
118,867,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R4459:Abcc4
|
UTSW |
14 |
118,836,805 (GRCm39) |
missense |
probably benign |
0.11 |
R4601:Abcc4
|
UTSW |
14 |
118,869,575 (GRCm39) |
missense |
probably benign |
0.00 |
R4665:Abcc4
|
UTSW |
14 |
118,766,414 (GRCm39) |
missense |
probably benign |
|
R4678:Abcc4
|
UTSW |
14 |
118,865,103 (GRCm39) |
missense |
probably damaging |
0.97 |
R4771:Abcc4
|
UTSW |
14 |
118,721,796 (GRCm39) |
missense |
probably benign |
0.00 |
R4962:Abcc4
|
UTSW |
14 |
118,905,811 (GRCm39) |
missense |
probably benign |
0.33 |
R4997:Abcc4
|
UTSW |
14 |
118,753,915 (GRCm39) |
nonsense |
probably null |
|
R5273:Abcc4
|
UTSW |
14 |
118,832,233 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5526:Abcc4
|
UTSW |
14 |
118,868,449 (GRCm39) |
missense |
probably benign |
0.10 |
R5652:Abcc4
|
UTSW |
14 |
118,856,339 (GRCm39) |
missense |
probably benign |
0.00 |
R5820:Abcc4
|
UTSW |
14 |
118,841,607 (GRCm39) |
missense |
probably benign |
0.14 |
R5873:Abcc4
|
UTSW |
14 |
118,763,702 (GRCm39) |
missense |
probably benign |
0.00 |
R6008:Abcc4
|
UTSW |
14 |
118,727,978 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6080:Abcc4
|
UTSW |
14 |
118,906,462 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6222:Abcc4
|
UTSW |
14 |
118,767,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Abcc4
|
UTSW |
14 |
118,832,306 (GRCm39) |
missense |
probably benign |
0.08 |
R6931:Abcc4
|
UTSW |
14 |
118,765,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R7013:Abcc4
|
UTSW |
14 |
118,763,755 (GRCm39) |
missense |
probably benign |
|
R7055:Abcc4
|
UTSW |
14 |
118,832,197 (GRCm39) |
nonsense |
probably null |
|
R7146:Abcc4
|
UTSW |
14 |
118,852,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Abcc4
|
UTSW |
14 |
118,865,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Abcc4
|
UTSW |
14 |
118,943,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R7438:Abcc4
|
UTSW |
14 |
118,853,858 (GRCm39) |
missense |
probably benign |
0.01 |
R7528:Abcc4
|
UTSW |
14 |
118,767,317 (GRCm39) |
missense |
probably damaging |
0.99 |
R7674:Abcc4
|
UTSW |
14 |
118,848,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Abcc4
|
UTSW |
14 |
118,852,682 (GRCm39) |
frame shift |
probably null |
|
R7823:Abcc4
|
UTSW |
14 |
118,771,484 (GRCm39) |
missense |
probably benign |
0.01 |
R7847:Abcc4
|
UTSW |
14 |
118,864,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Abcc4
|
UTSW |
14 |
118,836,772 (GRCm39) |
missense |
probably benign |
0.05 |
R8044:Abcc4
|
UTSW |
14 |
118,852,682 (GRCm39) |
frame shift |
probably null |
|
R8214:Abcc4
|
UTSW |
14 |
118,738,253 (GRCm39) |
missense |
probably benign |
0.35 |
R8264:Abcc4
|
UTSW |
14 |
118,832,254 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8309:Abcc4
|
UTSW |
14 |
118,853,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R8369:Abcc4
|
UTSW |
14 |
118,864,869 (GRCm39) |
missense |
probably benign |
0.02 |
R8701:Abcc4
|
UTSW |
14 |
118,836,785 (GRCm39) |
missense |
probably benign |
|
R8942:Abcc4
|
UTSW |
14 |
118,790,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R8994:Abcc4
|
UTSW |
14 |
118,771,556 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9008:Abcc4
|
UTSW |
14 |
118,849,162 (GRCm39) |
missense |
probably damaging |
0.98 |
R9100:Abcc4
|
UTSW |
14 |
118,853,800 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9119:Abcc4
|
UTSW |
14 |
118,868,442 (GRCm39) |
missense |
probably benign |
0.16 |
R9267:Abcc4
|
UTSW |
14 |
118,869,657 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGGTAACATCACGCATCCC -3'
(R):5'- ACATTGCGGTTCTCTGTCCG -3'
Sequencing Primer
(F):5'- CGCATCCCCAGCCCATG -3'
(R):5'- TGTCCGGCAGCATTCAGTAC -3'
|
Posted On |
2014-06-23 |