Incidental Mutation 'R4601:Abcc4'
ID |
345664 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4601 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118869575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 186
(M186L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
AlphaFold |
E9Q236 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036554
AA Change: M186L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849 AA Change: M186L
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 benign
Transcript: ENSMUST00000166646
AA Change: M111L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849 AA Change: M111L
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
A |
17: 45,827,847 (GRCm39) |
D555E |
probably damaging |
Het |
Abca16 |
T |
G |
7: 120,035,920 (GRCm39) |
F334L |
probably damaging |
Het |
Agap3 |
T |
C |
5: 24,681,406 (GRCm39) |
L120P |
probably damaging |
Het |
Ak7 |
G |
A |
12: 105,679,834 (GRCm39) |
V123M |
probably benign |
Het |
Aldh1a7 |
A |
T |
19: 20,693,343 (GRCm39) |
V192D |
probably damaging |
Het |
Ankrd36 |
A |
G |
11: 5,520,102 (GRCm39) |
D59G |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,347,359 (GRCm39) |
V936A |
probably benign |
Het |
Camkv |
T |
C |
9: 107,823,295 (GRCm39) |
V107A |
probably damaging |
Het |
Camp |
T |
C |
9: 109,677,730 (GRCm39) |
E80G |
probably damaging |
Het |
Cblif |
A |
C |
19: 11,729,554 (GRCm39) |
D171A |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,222,377 (GRCm39) |
N122S |
probably damaging |
Het |
Cd101 |
G |
A |
3: 100,901,204 (GRCm39) |
T960M |
possibly damaging |
Het |
Cdk18 |
A |
G |
1: 132,044,657 (GRCm39) |
V323A |
possibly damaging |
Het |
Celf2 |
G |
T |
2: 6,590,831 (GRCm39) |
N279K |
possibly damaging |
Het |
Cemip |
T |
C |
7: 83,600,826 (GRCm39) |
I932V |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,803,973 (GRCm39) |
Q28K |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,676,596 (GRCm39) |
C97R |
probably damaging |
Het |
Cfap126 |
G |
T |
1: 170,941,627 (GRCm39) |
G41C |
possibly damaging |
Het |
Cfap96 |
A |
T |
8: 46,423,505 (GRCm39) |
I69N |
probably damaging |
Het |
Chat |
T |
C |
14: 32,146,112 (GRCm39) |
M354V |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,632,945 (GRCm39) |
D168E |
possibly damaging |
Het |
Cpxm1 |
T |
A |
2: 130,235,496 (GRCm39) |
M499L |
possibly damaging |
Het |
Dennd3 |
T |
A |
15: 73,439,009 (GRCm39) |
W1126R |
probably damaging |
Het |
Dgkb |
T |
C |
12: 38,652,819 (GRCm39) |
S735P |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,976,202 (GRCm39) |
|
probably null |
Het |
Dnajc6 |
T |
C |
4: 101,468,461 (GRCm39) |
F166L |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,693,426 (GRCm39) |
N115D |
possibly damaging |
Het |
Ercc3 |
G |
A |
18: 32,378,624 (GRCm39) |
A202T |
probably benign |
Het |
Erich3 |
A |
T |
3: 154,470,375 (GRCm39) |
D136V |
unknown |
Het |
Exoc2 |
T |
C |
13: 31,066,251 (GRCm39) |
N475S |
probably benign |
Het |
Fam217a |
T |
C |
13: 35,095,285 (GRCm39) |
D310G |
probably damaging |
Het |
Fam53a |
C |
T |
5: 33,758,007 (GRCm39) |
S372N |
probably benign |
Het |
Fbn2 |
C |
G |
18: 58,186,805 (GRCm39) |
G1699R |
probably damaging |
Het |
Fbxo46 |
T |
C |
7: 18,869,489 (GRCm39) |
V36A |
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,648,487 (GRCm39) |
M26V |
probably damaging |
Het |
G6pc1 |
A |
G |
11: 101,263,567 (GRCm39) |
Y127C |
probably damaging |
Het |
Gba2 |
A |
G |
4: 43,573,810 (GRCm39) |
F161L |
probably damaging |
Het |
Gja1 |
T |
C |
10: 56,264,325 (GRCm39) |
L228P |
probably damaging |
Het |
Gm20834 |
A |
G |
Y: 10,323,178 (GRCm39) |
V86A |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,614,396 (GRCm39) |
C1337S |
probably damaging |
Het |
Il1rl1 |
T |
A |
1: 40,480,460 (GRCm39) |
S30T |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,896,548 (GRCm39) |
T1436A |
probably damaging |
Het |
Itk |
T |
A |
11: 46,227,342 (GRCm39) |
Q427L |
probably benign |
Het |
Klhdc4 |
T |
C |
8: 122,526,266 (GRCm39) |
E291G |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,881,887 (GRCm39) |
S250R |
possibly damaging |
Het |
Mnt |
T |
A |
11: 74,727,285 (GRCm39) |
V57E |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,881,844 (GRCm39) |
K736R |
probably benign |
Het |
Musk |
A |
T |
4: 58,301,625 (GRCm39) |
I128F |
probably damaging |
Het |
Myh4 |
G |
A |
11: 67,141,136 (GRCm39) |
A733T |
possibly damaging |
Het |
Myo5a |
T |
A |
9: 75,043,670 (GRCm39) |
F220I |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,091,361 (GRCm39) |
H305R |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,637,839 (GRCm39) |
Y1132F |
probably damaging |
Het |
Nt5c3b |
A |
C |
11: 100,323,744 (GRCm39) |
D189E |
probably benign |
Het |
Nuf2 |
A |
G |
1: 169,333,683 (GRCm39) |
L331P |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,887,977 (GRCm39) |
T646I |
probably benign |
Het |
Or14j9 |
T |
C |
17: 37,875,076 (GRCm39) |
N42S |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,699,174 (GRCm39) |
E1096G |
probably damaging |
Het |
Pgm2 |
T |
A |
5: 64,265,070 (GRCm39) |
F364I |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,273,421 (GRCm39) |
N612S |
probably damaging |
Het |
Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
Ppp3cb |
T |
C |
14: 20,570,714 (GRCm39) |
N339S |
possibly damaging |
Het |
Prkd2 |
G |
T |
7: 16,577,573 (GRCm39) |
|
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,041 (GRCm39) |
E296G |
possibly damaging |
Het |
Sav1 |
A |
T |
12: 70,031,095 (GRCm39) |
D142E |
probably benign |
Het |
Scn3b |
C |
A |
9: 40,199,719 (GRCm39) |
P212T |
probably damaging |
Het |
Sel1l |
A |
T |
12: 91,799,827 (GRCm39) |
|
probably null |
Het |
Septin9 |
A |
G |
11: 117,251,310 (GRCm39) |
K543E |
probably damaging |
Het |
Serpinb12 |
T |
A |
1: 106,876,883 (GRCm39) |
D66E |
probably benign |
Het |
Slc35e2 |
T |
C |
4: 155,702,106 (GRCm39) |
F290S |
probably benign |
Het |
Snrpa |
A |
G |
7: 26,894,958 (GRCm39) |
M1T |
probably null |
Het |
Sptlc3 |
G |
A |
2: 139,478,600 (GRCm39) |
V520I |
probably benign |
Het |
Srpk3 |
A |
G |
X: 72,818,547 (GRCm39) |
H79R |
possibly damaging |
Het |
Stox2 |
A |
G |
8: 47,645,970 (GRCm39) |
S497P |
probably damaging |
Het |
Stradb |
G |
A |
1: 59,032,731 (GRCm39) |
S361N |
probably damaging |
Het |
Sult3a2 |
T |
C |
10: 33,658,083 (GRCm39) |
K10R |
probably benign |
Het |
Susd4 |
A |
G |
1: 182,686,025 (GRCm39) |
N192D |
probably damaging |
Het |
Tcp10a |
T |
A |
17: 7,593,374 (GRCm39) |
D32E |
probably benign |
Het |
Tdpoz4 |
T |
A |
3: 93,704,339 (GRCm39) |
V212D |
probably damaging |
Het |
Tdrd5 |
T |
A |
1: 156,111,944 (GRCm39) |
T479S |
probably benign |
Het |
Tex10 |
T |
C |
4: 48,452,946 (GRCm39) |
D671G |
probably benign |
Het |
Tex55 |
A |
G |
16: 38,648,380 (GRCm39) |
V243A |
probably benign |
Het |
Traj37 |
T |
C |
14: 54,418,996 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,373 (GRCm39) |
L420Q |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,047,181 (GRCm39) |
|
probably null |
Het |
Wdr81 |
T |
A |
11: 75,336,484 (GRCm39) |
Q516L |
probably damaging |
Het |
Zfp516 |
A |
G |
18: 82,974,164 (GRCm39) |
T121A |
probably benign |
Het |
Zmat1 |
A |
T |
X: 133,873,694 (GRCm39) |
S566T |
probably damaging |
Homo |
|
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 |
R1786: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 |
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'- ATGGGGTCAACACATCTTACCAC -3'
(R):5'- ATTGCTGTTGGTGCCAGAC -3'
Sequencing Primer
(F):5'- GGCTTTAAAGTGCCTATGTCAC -3'
(R):5'- CAGACATTAGGGCTGTCGTC -3'
|
Posted On |
2015-09-25 |