Incidental Mutation 'R7769:Abcc4'
ID |
598497 |
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 |
045825-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7769 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
ACCAGCCC to ACC
at 118852682 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
AlphaFold |
E9Q236 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036554
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849
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 null
Transcript: ENSMUST00000166646
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849
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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (71/74) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
T |
C |
9: 106,328,819 (GRCm39) |
Y147H |
probably damaging |
Het |
Adam26b |
C |
A |
8: 43,974,732 (GRCm39) |
R90L |
probably benign |
Het |
Agt |
A |
T |
8: 125,291,289 (GRCm39) |
M6K |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,109,644 (GRCm39) |
S5P |
probably benign |
Het |
Arhgef38 |
A |
C |
3: 132,855,383 (GRCm39) |
S235A |
unknown |
Het |
Cabp5 |
A |
G |
7: 13,134,658 (GRCm39) |
D31G |
probably benign |
Het |
Cacna1h |
T |
A |
17: 25,604,779 (GRCm39) |
D1178V |
probably damaging |
Het |
Ccdc88a |
A |
T |
11: 29,432,381 (GRCm39) |
E1199D |
probably damaging |
Het |
Cd244a |
A |
T |
1: 171,404,873 (GRCm39) |
I242F |
probably benign |
Het |
Clpb |
G |
T |
7: 101,371,924 (GRCm39) |
R220L |
probably damaging |
Het |
Cltc |
C |
T |
11: 86,610,319 (GRCm39) |
R638H |
probably damaging |
Het |
Cnr1 |
A |
T |
4: 33,944,892 (GRCm39) |
M427L |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,579,390 (GRCm39) |
|
probably benign |
Het |
Epb41l2 |
A |
T |
10: 25,369,471 (GRCm39) |
T597S |
probably benign |
Het |
Epb41l3 |
T |
C |
17: 69,545,421 (GRCm39) |
Y163H |
probably damaging |
Het |
Fgg |
A |
G |
3: 82,920,433 (GRCm39) |
|
probably null |
Het |
Gm37240 |
A |
T |
3: 84,417,232 (GRCm39) |
D162E |
possibly damaging |
Het |
Gm44511 |
T |
A |
6: 128,797,240 (GRCm39) |
T83S |
probably benign |
Het |
Gm6685 |
T |
A |
11: 28,289,252 (GRCm39) |
Y188F |
probably benign |
Het |
Gprin2 |
A |
T |
14: 33,917,570 (GRCm39) |
C67S |
probably benign |
Het |
Grk6 |
A |
G |
13: 55,598,820 (GRCm39) |
D140G |
probably benign |
Het |
Hps3 |
T |
C |
3: 20,072,972 (GRCm39) |
|
probably null |
Het |
Hspb7 |
T |
C |
4: 141,151,335 (GRCm39) |
V159A |
possibly damaging |
Het |
Ibsp |
A |
G |
5: 104,453,871 (GRCm39) |
N70D |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,458,050 (GRCm39) |
N196D |
probably damaging |
Het |
Igfn1 |
A |
T |
1: 135,910,143 (GRCm39) |
F147Y |
possibly damaging |
Het |
Iqca1 |
T |
G |
1: 90,005,532 (GRCm39) |
D492A |
possibly damaging |
Het |
Klhl42 |
T |
C |
6: 146,993,358 (GRCm39) |
L110P |
possibly damaging |
Het |
Krt12 |
C |
T |
11: 99,308,852 (GRCm39) |
R395Q |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
Mttp |
A |
C |
3: 137,808,873 (GRCm39) |
L730R |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,571,803 (GRCm39) |
I239L |
unknown |
Het |
Myo15a |
T |
C |
11: 60,399,975 (GRCm39) |
F1723L |
|
Het |
Niban2 |
A |
G |
2: 32,809,844 (GRCm39) |
T314A |
possibly damaging |
Het |
Nin |
T |
C |
12: 70,090,004 (GRCm39) |
D1137G |
|
Het |
Nsf |
C |
T |
11: 103,819,665 (GRCm39) |
V35M |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,648,207 (GRCm39) |
I646K |
possibly damaging |
Het |
Nwd2 |
A |
G |
5: 63,961,847 (GRCm39) |
N477S |
probably damaging |
Het |
Or1p1 |
T |
A |
11: 74,179,589 (GRCm39) |
V39E |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,934,924 (GRCm39) |
D62G |
probably damaging |
Het |
Palb2 |
G |
T |
7: 121,727,638 (GRCm39) |
D77E |
probably benign |
Het |
Pcmtd2 |
T |
C |
2: 181,493,494 (GRCm39) |
V233A |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pgr |
C |
T |
9: 8,946,856 (GRCm39) |
T699I |
possibly damaging |
Het |
Pknox2 |
C |
A |
9: 36,806,602 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
T |
C |
9: 124,439,087 (GRCm38) |
H110R |
|
Het |
Psmd11 |
T |
A |
11: 80,325,408 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,736,001 (GRCm39) |
N59S |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,588,921 (GRCm39) |
D1662E |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,278,239 (GRCm39) |
Y180C |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,033,900 (GRCm39) |
S393G |
probably benign |
Het |
Rtn4r |
C |
T |
16: 17,969,153 (GRCm39) |
P194S |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,798,210 (GRCm39) |
G944D |
probably damaging |
Het |
Scamp3 |
A |
G |
3: 89,085,298 (GRCm39) |
D23G |
probably damaging |
Het |
Secisbp2l |
CTGGG |
C |
2: 125,613,465 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,789,232 (GRCm39) |
I529T |
probably damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,473 (GRCm39) |
D502V |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,880,855 (GRCm39) |
I323T |
possibly damaging |
Het |
Spred1 |
T |
C |
2: 117,007,930 (GRCm39) |
S279P |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,826,880 (GRCm39) |
V949D |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,708,144 (GRCm39) |
S386P |
probably benign |
Het |
Syt14 |
A |
G |
1: 192,666,632 (GRCm39) |
S91P |
unknown |
Het |
Thpo |
C |
T |
16: 20,544,401 (GRCm39) |
A211T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,992,530 (GRCm39) |
D716V |
probably damaging |
Het |
Trbv26 |
A |
G |
6: 41,204,481 (GRCm39) |
Y8C |
probably benign |
Het |
Tshr |
A |
G |
12: 91,505,044 (GRCm39) |
I661V |
probably damaging |
Het |
Uvrag |
G |
A |
7: 98,628,928 (GRCm39) |
P380S |
probably damaging |
Het |
Vkorc1 |
G |
T |
7: 127,493,696 (GRCm39) |
Y88* |
probably null |
Het |
Vmn1r63 |
C |
T |
7: 5,806,369 (GRCm39) |
V88M |
probably damaging |
Het |
Wdsub1 |
A |
G |
2: 59,708,763 (GRCm39) |
Y37H |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,809,983 (GRCm39) |
D31G |
probably benign |
Het |
Zc3h12d |
G |
A |
10: 7,743,390 (GRCm39) |
A387T |
probably benign |
Het |
Zfp438 |
C |
T |
18: 5,213,377 (GRCm39) |
R527H |
possibly damaging |
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 |
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'- AGTATCATGACTTAGAGAACGCCC -3'
(R):5'- AAGCTGCAGCATCTAGTGAC -3'
Sequencing Primer
(F):5'- AAGGCGGGCGTTTACAC -3'
(R):5'- GCAGCATCTAGTGACCTTTTATATG -3'
|
Posted On |
2019-11-26 |