Incidental Mutation 'IGL02708:Abcc4'
| ID |
304434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02708
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118738213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1104
(V1104D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036554
AA Change: V1179D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: V1179D
| 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: V1104D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: V1104D
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,516,982 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
| Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
| Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
| Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
| Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
| Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
| Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
| Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
| Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
| Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
| Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
T |
C |
13: 76,065,843 (GRCm39) |
D180G |
probably damaging |
Het |
| Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
| Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
| Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,287,590 (GRCm39) |
E331G |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,215,485 (GRCm39) |
C161R |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
Het |
| Ypel1 |
A |
T |
16: 16,923,872 (GRCm39) |
V59D |
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation