Incidental Mutation 'R6931:Abcc4'
| ID |
540055 |
| 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 |
045326-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6931 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118765400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 919
(Q919R)
|
| 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: Q994R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: Q994R
| 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: Q919R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: Q919R
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,118,561 (GRCm39) |
I15N |
probably damaging |
Het |
| 2900092C05Rik |
T |
A |
7: 12,246,523 (GRCm39) |
S6R |
unknown |
Het |
| Abca6 |
T |
A |
11: 110,135,154 (GRCm39) |
L210F |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,884 (GRCm39) |
D811G |
possibly damaging |
Het |
| Akna |
A |
G |
4: 63,305,339 (GRCm39) |
S476P |
probably benign |
Het |
| Ankrd49 |
T |
C |
9: 14,694,122 (GRCm39) |
N15S |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,066,979 (GRCm39) |
D31G |
probably damaging |
Het |
| Aplp1 |
G |
T |
7: 30,142,625 (GRCm39) |
R106S |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,373,138 (GRCm39) |
L132S |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,364,108 (GRCm39) |
|
probably null |
Het |
| Axl |
T |
C |
7: 25,460,858 (GRCm39) |
D717G |
probably damaging |
Het |
| Bub1 |
T |
A |
2: 127,643,302 (GRCm39) |
D1014V |
probably damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,259,195 (GRCm39) |
V603E |
possibly damaging |
Het |
| Cnot11 |
G |
C |
1: 39,579,002 (GRCm39) |
C289S |
probably damaging |
Het |
| Coasy |
A |
G |
11: 100,974,407 (GRCm39) |
H191R |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 57,932,403 (GRCm39) |
N341Y |
possibly damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,589,439 (GRCm39) |
N125S |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,333,018 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,008,452 (GRCm39) |
I791K |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,682,487 (GRCm39) |
Q505H |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,124,568 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam171a2 |
A |
G |
11: 102,329,260 (GRCm39) |
S500P |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,238 (GRCm39) |
S3718P |
possibly damaging |
Het |
| Frem1 |
G |
A |
4: 82,888,914 (GRCm39) |
P1085S |
probably damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,919,966 (GRCm39) |
I390V |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,101,782 (GRCm39) |
L993P |
probably damaging |
Het |
| Ggnbp2 |
T |
A |
11: 84,723,993 (GRCm39) |
D647V |
probably damaging |
Het |
| Gpr84 |
A |
C |
15: 103,217,441 (GRCm39) |
L212R |
probably damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,997 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,268,031 (GRCm39) |
C2116F |
probably damaging |
Het |
| Icam4 |
T |
A |
9: 20,941,747 (GRCm39) |
V249E |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,138,099 (GRCm39) |
N429D |
probably benign |
Het |
| Kcns1 |
T |
C |
2: 164,006,758 (GRCm39) |
T402A |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,826 (GRCm39) |
V246E |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,921,144 (GRCm39) |
T529A |
probably benign |
Het |
| Med18 |
C |
G |
4: 132,187,194 (GRCm39) |
V102L |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,696,249 (GRCm39) |
D160G |
probably damaging |
Het |
| Mthfd1 |
T |
C |
12: 76,350,472 (GRCm39) |
I470T |
probably benign |
Het |
| Muc1 |
C |
T |
3: 89,136,466 (GRCm39) |
|
probably benign |
Het |
| Mup8 |
G |
A |
4: 60,220,322 (GRCm39) |
L137F |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,378,192 (GRCm39) |
L341* |
probably null |
Het |
| Nacad |
A |
G |
11: 6,551,877 (GRCm39) |
F438S |
probably benign |
Het |
| Necap2 |
C |
A |
4: 140,805,523 (GRCm39) |
|
probably null |
Het |
| Nifk |
T |
C |
1: 118,260,078 (GRCm39) |
L163S |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,201,293 (GRCm39) |
I73V |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,529 (GRCm39) |
T172A |
possibly damaging |
Het |
| Oog3 |
C |
T |
4: 143,885,923 (GRCm39) |
C225Y |
probably benign |
Het |
| Or2d2 |
A |
G |
7: 106,728,108 (GRCm39) |
L164P |
probably damaging |
Het |
| Or4b13 |
A |
T |
2: 90,083,121 (GRCm39) |
C70* |
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,356,538 (GRCm39) |
C204S |
possibly damaging |
Het |
| Or4p18 |
G |
A |
2: 88,232,408 (GRCm39) |
T290I |
probably benign |
Het |
| Plagl2 |
C |
A |
2: 153,077,863 (GRCm39) |
K39N |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,284,058 (GRCm39) |
D118E |
probably benign |
Het |
| Ppp4r3b |
A |
T |
11: 29,161,786 (GRCm39) |
K720I |
possibly damaging |
Het |
| Prmt3 |
A |
T |
7: 49,478,764 (GRCm39) |
T442S |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,988,035 (GRCm39) |
H487Y |
probably damaging |
Het |
| Psmb3 |
G |
A |
11: 97,594,797 (GRCm39) |
V63I |
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,581,182 (GRCm39) |
I326K |
possibly damaging |
Het |
| Ptcd1 |
T |
C |
5: 145,091,885 (GRCm39) |
T405A |
probably benign |
Het |
| Rbm33 |
G |
A |
5: 28,615,743 (GRCm39) |
V29M |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Scarb1 |
T |
A |
5: 125,361,783 (GRCm39) |
I107F |
probably damaging |
Het |
| Slc39a12 |
A |
G |
2: 14,394,186 (GRCm39) |
S19G |
probably benign |
Het |
| Slc44a5 |
T |
C |
3: 153,964,143 (GRCm39) |
V503A |
probably benign |
Het |
| Slc9a9 |
T |
C |
9: 94,552,139 (GRCm39) |
S9P |
possibly damaging |
Het |
| Snrnp35 |
A |
C |
5: 124,628,764 (GRCm39) |
R192S |
possibly damaging |
Het |
| Tbx15 |
T |
C |
3: 99,259,467 (GRCm39) |
L446P |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,805 (GRCm39) |
F209L |
probably benign |
Het |
| Tmprss12 |
C |
T |
15: 100,183,149 (GRCm39) |
R164C |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,244,644 (GRCm39) |
F111Y |
possibly damaging |
Het |
| Trib2 |
A |
T |
12: 15,843,640 (GRCm39) |
M198K |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,798,507 (GRCm39) |
S743P |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,460,580 (GRCm39) |
N2614Y |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,435,269 (GRCm39) |
V343I |
possibly damaging |
Het |
| Vrtn |
C |
A |
12: 84,697,016 (GRCm39) |
Q589K |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,932,170 (GRCm39) |
Y706* |
probably null |
Het |
| Zc3h10 |
A |
G |
10: 128,380,553 (GRCm39) |
V268A |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,252,860 (GRCm39) |
|
probably null |
Het |
| Zpld2 |
A |
T |
4: 133,920,464 (GRCm39) |
M567K |
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 |
|
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'- CTGACATAGCATACATGAGACAGAG -3'
(R):5'- GAAAACTCCGGCTGTATACCAC -3'
Sequencing Primer
(F):5'- CATTAACATTAAACAGATGGGAGCG -3'
(R):5'- CACTTGTTGGGTCCTCCTGTAAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation