Incidental Mutation 'R1678:Abcc4'
| ID |
188304 |
| 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 |
039714-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1678 (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 118832306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 775
(T775S)
|
| 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: T775S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: T775S
| 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: T700S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: T700S
| 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: ENSMUST00000184391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228848
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,554,594 (GRCm39) |
I120S |
probably benign |
Het |
| Abcb5 |
A |
C |
12: 118,929,064 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
T |
A |
4: 49,380,568 (GRCm39) |
Y270F |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ankib1 |
A |
G |
5: 3,756,301 (GRCm39) |
I548T |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,764,892 (GRCm39) |
|
probably null |
Het |
| Asb17 |
C |
T |
3: 153,550,004 (GRCm39) |
S12F |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 5,015,899 (GRCm39) |
V542I |
possibly damaging |
Het |
| Atxn7 |
T |
C |
14: 14,096,239 (GRCm38) |
F515L |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,779,348 (GRCm39) |
L680P |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,750,562 (GRCm39) |
R351H |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,962,624 (GRCm39) |
F26S |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,517,802 (GRCm38) |
|
probably null |
Het |
| Capza1 |
G |
T |
3: 104,771,669 (GRCm39) |
S9* |
probably null |
Het |
| Ccl11 |
C |
T |
11: 81,948,866 (GRCm39) |
P25L |
probably damaging |
Het |
| Cdyl |
A |
T |
13: 36,040,872 (GRCm39) |
K306N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,579 (GRCm39) |
V471A |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,464,380 (GRCm39) |
K983E |
unknown |
Het |
| Cp |
A |
C |
3: 20,026,881 (GRCm39) |
K436N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,968,252 (GRCm39) |
D3125V |
possibly damaging |
Het |
| Daw1 |
A |
T |
1: 83,161,087 (GRCm39) |
N143I |
probably damaging |
Het |
| Dmd |
T |
A |
X: 84,018,368 (GRCm39) |
I3067N |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,656,193 (GRCm39) |
V105A |
probably damaging |
Het |
| Dnah11 |
T |
G |
12: 117,897,580 (GRCm39) |
N3550T |
possibly damaging |
Het |
| Dnm2 |
T |
C |
9: 21,378,828 (GRCm39) |
V129A |
possibly damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,632,096 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
A |
G |
12: 116,189,590 (GRCm39) |
S640P |
probably damaging |
Het |
| Efemp1 |
G |
A |
11: 28,866,942 (GRCm39) |
E325K |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,815,096 (GRCm39) |
T85A |
probably benign |
Het |
| Faim2 |
C |
A |
15: 99,418,217 (GRCm39) |
V123F |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,830,350 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,810,718 (GRCm39) |
E184G |
probably damaging |
Het |
| Fnd3c2 |
T |
C |
X: 105,281,305 (GRCm39) |
T799A |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,427,359 (GRCm39) |
D2931G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,689 (GRCm39) |
T4141A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,344,705 (GRCm39) |
M546K |
probably benign |
Het |
| Gm21775 |
G |
A |
Y: 10,553,867 (GRCm39) |
V139M |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,778,145 (GRCm39) |
V172F |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,499 (GRCm39) |
C740F |
probably benign |
Het |
| Jmjd4 |
A |
G |
11: 59,344,438 (GRCm39) |
Y179C |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,903,281 (GRCm39) |
L143P |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,501,283 (GRCm39) |
V248A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,117,150 (GRCm39) |
Y2482H |
possibly damaging |
Het |
| Lamb2 |
A |
T |
9: 108,360,885 (GRCm39) |
|
probably null |
Het |
| Lclat1 |
G |
A |
17: 73,503,715 (GRCm39) |
G162R |
probably damaging |
Het |
| Map6 |
T |
C |
7: 98,917,305 (GRCm39) |
V26A |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,663,050 (GRCm39) |
D107V |
probably damaging |
Het |
| Metap1d |
T |
A |
2: 71,355,121 (GRCm39) |
V304D |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,879,395 (GRCm39) |
|
probably benign |
Het |
| Napg |
T |
C |
18: 63,117,143 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,299,493 (GRCm39) |
F7L |
probably benign |
Het |
| Ndst2 |
T |
C |
14: 20,774,582 (GRCm39) |
T825A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,775,222 (GRCm39) |
I353T |
probably damaging |
Het |
| Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
| Nxf3 |
T |
C |
X: 134,976,270 (GRCm39) |
D407G |
probably damaging |
Het |
| Or51f2 |
T |
A |
7: 102,526,870 (GRCm39) |
V181E |
probably damaging |
Het |
| Or8c13 |
A |
T |
9: 38,091,933 (GRCm39) |
F62Y |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,313,193 (GRCm39) |
|
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,852,811 (GRCm39) |
T172A |
possibly damaging |
Het |
| Pcdh10 |
G |
T |
3: 45,336,316 (GRCm39) |
E877* |
probably null |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,682 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,648,115 (GRCm39) |
S419P |
probably damaging |
Het |
| Prex2 |
T |
G |
1: 11,355,313 (GRCm39) |
I1538S |
possibly damaging |
Het |
| Prss59 |
C |
A |
6: 40,906,453 (GRCm39) |
|
probably benign |
Het |
| Rasl10a |
A |
G |
11: 5,009,815 (GRCm39) |
E121G |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,372 (GRCm39) |
T754A |
probably benign |
Het |
| Rictor |
T |
C |
15: 6,785,952 (GRCm39) |
V156A |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,815,579 (GRCm39) |
Y104N |
probably damaging |
Het |
| Sctr |
G |
T |
1: 119,964,169 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,800,525 (GRCm39) |
Y2247H |
probably damaging |
Het |
| Sqle |
C |
T |
15: 59,196,358 (GRCm39) |
R384W |
probably damaging |
Het |
| Srcin1 |
C |
A |
11: 97,409,470 (GRCm39) |
R1163L |
probably damaging |
Het |
| Srp72 |
A |
G |
5: 77,128,154 (GRCm39) |
Y125C |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,037,960 (GRCm39) |
S1535P |
probably benign |
Het |
| Sumf2 |
A |
G |
5: 129,883,557 (GRCm39) |
E125G |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,490 (GRCm39) |
I77F |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
| Tcp1 |
T |
A |
17: 13,139,310 (GRCm39) |
N212K |
probably benign |
Het |
| Ttc7 |
G |
T |
17: 87,669,329 (GRCm39) |
G659C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,691,903 (GRCm39) |
|
probably null |
Het |
| Ubtf |
A |
T |
11: 102,199,804 (GRCm39) |
D440E |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,207 (GRCm39) |
D428G |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
G |
A |
7: 41,513,480 (GRCm39) |
H388Y |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,371,038 (GRCm39) |
D281G |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,406,765 (GRCm39) |
S174P |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 13,011,337 (GRCm39) |
T4A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAATGCCATCAGACCCTCGTTG -3'
(R):5'- AGGCAGAAATCTTTCCTCTGAGTGC -3'
Sequencing Primer
(F):5'- GCGTGAGTACACGCCTTAAC -3'
(R):5'- AGTGCTTAGTAGGACATGCAATTTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation