Incidental Mutation 'R8942:Abcc4'
ID |
681070 |
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 # |
R8942 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 118790732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 833
(D833E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
AlphaFold |
E9Q236 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036554
AA Change: D833E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849 AA Change: D833E
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: D758E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849 AA Change: D758E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
T |
5: 81,796,568 (GRCm39) |
I626L |
probably benign |
Het |
AI182371 |
A |
C |
2: 34,990,622 (GRCm39) |
L25R |
probably damaging |
Het |
Atp2b2 |
G |
T |
6: 113,790,991 (GRCm39) |
Q138K |
probably benign |
Het |
Atp8b5 |
T |
C |
4: 43,353,658 (GRCm39) |
F491L |
probably damaging |
Het |
Bcap29 |
T |
A |
12: 31,684,353 (GRCm39) |
M1L |
probably damaging |
Het |
C1qtnf7 |
A |
G |
5: 43,773,583 (GRCm39) |
D294G |
probably benign |
Het |
Ccdc170 |
C |
T |
10: 4,484,044 (GRCm39) |
A290V |
probably benign |
Het |
Cfhr2 |
A |
T |
1: 139,741,292 (GRCm39) |
L228I |
probably benign |
Het |
Clip4 |
T |
A |
17: 72,170,768 (GRCm39) |
V645D |
probably benign |
Het |
Cyp4a31 |
C |
T |
4: 115,426,918 (GRCm39) |
R173W |
possibly damaging |
Het |
Dis3l |
T |
C |
9: 64,214,875 (GRCm39) |
K898R |
probably benign |
Het |
Efr3b |
G |
T |
12: 4,032,091 (GRCm39) |
H172Q |
possibly damaging |
Het |
Eipr1 |
A |
T |
12: 28,917,053 (GRCm39) |
N374Y |
probably damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,392,002 (GRCm39) |
E414D |
possibly damaging |
Het |
Exoc3l4 |
G |
T |
12: 111,392,003 (GRCm39) |
V415L |
probably benign |
Het |
Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,619,134 (GRCm39) |
T80A |
probably benign |
Het |
Gen1 |
A |
G |
12: 11,292,287 (GRCm39) |
S501P |
probably benign |
Het |
Gm10643 |
A |
G |
8: 84,790,799 (GRCm39) |
|
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,481,395 (GRCm39) |
V445D |
probably benign |
Het |
Hells |
CT |
C |
19: 38,942,045 (GRCm39) |
|
probably null |
Het |
Hnrnpr |
T |
G |
4: 136,059,791 (GRCm39) |
D197E |
possibly damaging |
Het |
Hspb1 |
G |
A |
5: 135,916,928 (GRCm39) |
V6M |
probably damaging |
Het |
Iglon5 |
A |
G |
7: 43,126,315 (GRCm39) |
V196A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,103,720 (GRCm39) |
T1142A |
probably benign |
Het |
Katnip |
T |
G |
7: 125,449,975 (GRCm39) |
L1013R |
probably damaging |
Het |
Kcnq2 |
T |
A |
2: 180,724,244 (GRCm39) |
D587V |
probably damaging |
Het |
Lmln |
C |
T |
16: 32,901,330 (GRCm39) |
P242L |
probably damaging |
Het |
Mapt |
G |
A |
11: 104,173,307 (GRCm39) |
|
probably null |
Het |
Mrgpre |
T |
C |
7: 143,335,002 (GRCm39) |
Y167C |
|
Het |
Mtx2 |
A |
T |
2: 74,699,696 (GRCm39) |
I156F |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,381,104 (GRCm39) |
S563T |
probably benign |
Het |
Nmbr |
C |
T |
10: 14,646,197 (GRCm39) |
S357L |
probably benign |
Het |
Or10ak14 |
A |
T |
4: 118,611,594 (GRCm39) |
I49N |
possibly damaging |
Het |
Or4e1 |
A |
C |
14: 52,700,692 (GRCm39) |
I258S |
probably damaging |
Het |
Or4f14 |
T |
A |
2: 111,743,207 (GRCm39) |
I23F |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,802 (GRCm39) |
N42S |
probably damaging |
Het |
Or4k15b |
A |
C |
14: 50,272,602 (GRCm39) |
L86R |
probably damaging |
Het |
Or4p4 |
C |
T |
2: 88,483,308 (GRCm39) |
L271F |
possibly damaging |
Het |
Pctp |
A |
G |
11: 89,875,554 (GRCm39) |
M203T |
possibly damaging |
Het |
Pip4k2c |
A |
G |
10: 127,036,084 (GRCm39) |
V261A |
probably benign |
Het |
Pm20d1 |
G |
T |
1: 131,739,785 (GRCm39) |
V378F |
possibly damaging |
Het |
Ppcdc |
C |
T |
9: 57,342,265 (GRCm39) |
R19H |
probably benign |
Het |
Pramel26 |
T |
C |
4: 143,536,861 (GRCm39) |
N490S |
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,082,598 (GRCm39) |
E1332G |
probably damaging |
Het |
Sgce |
G |
T |
6: 4,730,027 (GRCm39) |
L66M |
probably benign |
Het |
Sycp2l |
G |
T |
13: 41,277,522 (GRCm39) |
|
probably null |
Het |
Tars1 |
G |
T |
15: 11,384,183 (GRCm39) |
H695N |
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,876,851 (GRCm39) |
V107A |
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,805,793 (GRCm39) |
M1550K |
possibly damaging |
Het |
Ttf2 |
A |
C |
3: 100,869,042 (GRCm39) |
S431R |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,512,468 (GRCm39) |
D126G |
possibly damaging |
Het |
Usp17lb |
C |
T |
7: 104,490,583 (GRCm39) |
V115I |
possibly damaging |
Het |
Vezf1 |
A |
G |
11: 87,972,553 (GRCm39) |
T305A |
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,876 (GRCm39) |
N31K |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,211,808 (GRCm39) |
K380E |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,233,971 (GRCm39) |
Y499* |
probably null |
Het |
Zfp777 |
T |
C |
6: 48,006,125 (GRCm39) |
E467G |
probably benign |
Het |
Zkscan4 |
C |
A |
13: 21,668,680 (GRCm39) |
P406Q |
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 |
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 |
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 |
|
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'- ACACGGCCTTTTGTTGAGG -3'
(R):5'- TGTCCGGCAGCATTCAGTAC -3'
Sequencing Primer
(F):5'- TGTTGAGGTAACATCACGCATCC -3'
(R):5'- TTTCCGTTGCCATTGACATG -3'
|
Posted On |
2021-08-31 |