Incidental Mutation 'IGL02391:Abcc4'
| ID |
293858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcc4
|
| Ensembl Gene |
ENSMUSG00000032849 |
| Gene Name |
ATP-binding cassette, sub-family C (CFTR/MRP), member 4 |
| Synonyms |
MRP4, D630049P08Rik, MOAT-B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
118482692-118706219 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118553352 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 748
(N748Y)
|
| 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: N823Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: N823Y
| 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: N748Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: N748Y
| 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 |
|---|
| Actbl2 |
A |
G |
13: 111,255,167 (GRCm38) |
D12G |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,528,811 (GRCm38) |
S74P |
probably benign |
Het |
| Adprhl2 |
C |
T |
4: 126,317,908 (GRCm38) |
|
probably benign |
Het |
| Amn1 |
A |
G |
6: 149,169,446 (GRCm38) |
|
probably null |
Het |
| Antxr1 |
A |
T |
6: 87,287,056 (GRCm38) |
I144N |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,975,339 (GRCm38) |
H262N |
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,398,344 (GRCm38) |
R13* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,421,113 (GRCm38) |
Y1669H |
probably damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,898,282 (GRCm38) |
E364G |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,136,052 (GRCm38) |
P74S |
probably damaging |
Het |
| Clec3a |
C |
T |
8: 114,425,500 (GRCm38) |
S82L |
probably benign |
Het |
| Cnih3 |
A |
G |
1: 181,406,513 (GRCm38) |
D43G |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,650,358 (GRCm38) |
T128M |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,628,581 (GRCm38) |
F79I |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,420,791 (GRCm38) |
H199Q |
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,941,951 (GRCm38) |
L46P |
probably damaging |
Het |
| Glipr1 |
A |
G |
10: 111,988,894 (GRCm38) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,803,579 (GRCm38) |
N129S |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,481,414 (GRCm38) |
S619P |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,850,805 (GRCm38) |
V262E |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,277,667 (GRCm38) |
R101* |
probably null |
Het |
| Mta1 |
T |
A |
12: 113,136,583 (GRCm38) |
I688N |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,752,076 (GRCm38) |
R651S |
probably benign |
Het |
| Olfr109 |
C |
T |
17: 37,466,586 (GRCm38) |
P127S |
probably damaging |
Het |
| Olfr1342 |
A |
G |
4: 118,690,341 (GRCm38) |
L37P |
probably damaging |
Het |
| Olfr824 |
A |
G |
10: 130,126,904 (GRCm38) |
V51A |
possibly damaging |
Het |
| Opcml |
A |
G |
9: 28,675,264 (GRCm38) |
I93V |
probably damaging |
Het |
| Parg |
T |
G |
14: 32,262,681 (GRCm38) |
|
probably null |
Het |
| Rps3a3 |
A |
G |
13: 108,670,883 (GRCm38) |
|
probably benign |
Het |
| Safb |
T |
A |
17: 56,600,813 (GRCm38) |
|
probably benign |
Het |
| Sat2 |
G |
T |
11: 69,622,749 (GRCm38) |
C54F |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,077,531 (GRCm38) |
Y420F |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,169,353 (GRCm38) |
S362T |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,431,259 (GRCm38) |
D537G |
probably null |
Het |
| Spred3 |
A |
G |
7: 29,166,405 (GRCm38) |
S126P |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 113,942,517 (GRCm38) |
E951K |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,512,442 (GRCm38) |
E28G |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,659,676 (GRCm38) |
|
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,064,906 (GRCm38) |
I373V |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,354,827 (GRCm38) |
F58L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,202,710 (GRCm38) |
N1655S |
possibly damaging |
Het |
| Usp2 |
G |
T |
9: 44,091,227 (GRCm38) |
Q147H |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,407,129 (GRCm38) |
N1751K |
possibly damaging |
Het |
| Wipf1 |
T |
A |
2: 73,434,143 (GRCm38) |
D438V |
probably damaging |
Het |
|
| Other mutations in Abcc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00768:Abcc4
|
APN |
14 |
118,528,997 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01152:Abcc4
|
APN |
14 |
118,599,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01511:Abcc4
|
APN |
14 |
118,599,341 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01604:Abcc4
|
APN |
14 |
118,527,994 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01725:Abcc4
|
APN |
14 |
118,500,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01828:Abcc4
|
APN |
14 |
118,553,279 (GRCm38) |
splice site |
probably benign |
|
|
IGL02174:Abcc4
|
APN |
14 |
118,500,742 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02500:Abcc4
|
APN |
14 |
118,618,926 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02598:Abcc4
|
APN |
14 |
118,668,369 (GRCm38) |
nonsense |
probably null |
|
|
IGL02668:Abcc4
|
APN |
14 |
118,611,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02708:Abcc4
|
APN |
14 |
118,500,801 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02859:Abcc4
|
APN |
14 |
118,516,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03249:Abcc4
|
APN |
14 |
118,627,706 (GRCm38) |
splice site |
probably benign |
|
|
IGL03257:Abcc4
|
APN |
14 |
118,615,211 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03298:Abcc4
|
APN |
14 |
118,611,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
1mM(1):Abcc4
|
UTSW |
14 |
118,629,656 (GRCm38) |
nonsense |
probably null |
|
|
R0743:Abcc4
|
UTSW |
14 |
118,553,288 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0884:Abcc4
|
UTSW |
14 |
118,553,288 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1139:Abcc4
|
UTSW |
14 |
118,500,840 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1238:Abcc4
|
UTSW |
14 |
118,597,639 (GRCm38) |
splice site |
probably benign |
|
|
R1588:Abcc4
|
UTSW |
14 |
118,534,072 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1678:Abcc4
|
UTSW |
14 |
118,594,894 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1785:Abcc4
|
UTSW |
14 |
118,553,349 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1786:Abcc4
|
UTSW |
14 |
118,553,349 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1961:Abcc4
|
UTSW |
14 |
118,611,459 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1961:Abcc4
|
UTSW |
14 |
118,611,456 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1993:Abcc4
|
UTSW |
14 |
118,526,282 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2025:Abcc4
|
UTSW |
14 |
118,553,325 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3613:Abcc4
|
UTSW |
14 |
118,627,451 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3864:Abcc4
|
UTSW |
14 |
118,616,415 (GRCm38) |
missense |
probably benign |
|
|
R4274:Abcc4
|
UTSW |
14 |
118,629,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4459:Abcc4
|
UTSW |
14 |
118,599,393 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4601:Abcc4
|
UTSW |
14 |
118,632,163 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4665:Abcc4
|
UTSW |
14 |
118,529,002 (GRCm38) |
missense |
probably benign |
|
|
R4678:Abcc4
|
UTSW |
14 |
118,627,691 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4771:Abcc4
|
UTSW |
14 |
118,484,384 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4962:Abcc4
|
UTSW |
14 |
118,668,399 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4997:Abcc4
|
UTSW |
14 |
118,516,503 (GRCm38) |
nonsense |
probably null |
|
|
R5273:Abcc4
|
UTSW |
14 |
118,594,821 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5526:Abcc4
|
UTSW |
14 |
118,631,037 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5652:Abcc4
|
UTSW |
14 |
118,618,927 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5820:Abcc4
|
UTSW |
14 |
118,604,195 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5873:Abcc4
|
UTSW |
14 |
118,526,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6008:Abcc4
|
UTSW |
14 |
118,490,566 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6080:Abcc4
|
UTSW |
14 |
118,669,050 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6222:Abcc4
|
UTSW |
14 |
118,529,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6919:Abcc4
|
UTSW |
14 |
118,594,894 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6931:Abcc4
|
UTSW |
14 |
118,527,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7013:Abcc4
|
UTSW |
14 |
118,526,343 (GRCm38) |
missense |
probably benign |
|
|
R7055:Abcc4
|
UTSW |
14 |
118,594,785 (GRCm38) |
nonsense |
probably null |
|
|
R7146:Abcc4
|
UTSW |
14 |
118,615,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7365:Abcc4
|
UTSW |
14 |
118,627,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7402:Abcc4
|
UTSW |
14 |
118,706,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7438:Abcc4
|
UTSW |
14 |
118,616,446 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7528:Abcc4
|
UTSW |
14 |
118,529,905 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7674:Abcc4
|
UTSW |
14 |
118,611,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7769:Abcc4
|
UTSW |
14 |
118,615,270 (GRCm38) |
frame shift |
probably null |
|
|
R7823:Abcc4
|
UTSW |
14 |
118,534,072 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7847:Abcc4
|
UTSW |
14 |
118,627,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7989:Abcc4
|
UTSW |
14 |
118,599,360 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8044:Abcc4
|
UTSW |
14 |
118,615,270 (GRCm38) |
frame shift |
probably null |
|
|
R8214:Abcc4
|
UTSW |
14 |
118,500,841 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8264:Abcc4
|
UTSW |
14 |
118,594,842 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8309:Abcc4
|
UTSW |
14 |
118,616,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8369:Abcc4
|
UTSW |
14 |
118,627,457 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8701:Abcc4
|
UTSW |
14 |
118,599,373 (GRCm38) |
missense |
probably benign |
|
|
R8942:Abcc4
|
UTSW |
14 |
118,553,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8994:Abcc4
|
UTSW |
14 |
118,534,144 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9008:Abcc4
|
UTSW |
14 |
118,611,750 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9100:Abcc4
|
UTSW |
14 |
118,616,388 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9119:Abcc4
|
UTSW |
14 |
118,631,030 (GRCm38) |
missense |
probably benign |
0.16 |
|
R9267:Abcc4
|
UTSW |
14 |
118,632,245 (GRCm38) |
intron |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation