Incidental Mutation 'R9100:Abcc4'
| ID |
691646 |
| 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 |
068914-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118853800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 444
(V444A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036554
AA Change: V444A
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: V444A
| 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 |
possibly damaging
Transcript: ENSMUST00000166646
AA Change: V369A
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: V369A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (75/78) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
T |
A |
5: 34,770,622 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,762,891 (GRCm39) |
|
probably benign |
Het |
| Adgrl3 |
A |
C |
5: 81,842,299 (GRCm39) |
Q809P |
possibly damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,236,806 (GRCm39) |
C205R |
probably damaging |
Het |
| Atp6v1b2 |
A |
G |
8: 69,541,476 (GRCm39) |
N11S |
|
Het |
| B3gnt6 |
T |
A |
7: 97,843,958 (GRCm39) |
M1L |
not run |
Het |
| Bltp1 |
A |
G |
3: 37,098,907 (GRCm39) |
K1256R |
|
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdca8 |
T |
C |
4: 124,830,238 (GRCm39) |
T45A |
probably benign |
Het |
| Ces2b |
C |
A |
8: 105,558,221 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cnot3 |
A |
G |
7: 3,661,192 (GRCm39) |
D567G |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,230,875 (GRCm39) |
D364G |
probably damaging |
Het |
| Cpped1 |
A |
G |
16: 11,646,419 (GRCm39) |
V111A |
|
Het |
| Cstdc4 |
T |
A |
16: 36,008,285 (GRCm39) |
M57K |
possibly damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,995 (GRCm39) |
K468E |
probably damaging |
Het |
| Dpp4 |
T |
G |
2: 62,204,733 (GRCm39) |
T245P |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,090,893 (GRCm39) |
T151A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,347 (GRCm39) |
W3622R |
probably damaging |
Het |
| Fat4 |
A |
C |
3: 39,064,803 (GRCm39) |
K4920Q |
|
Het |
| Frmpd2 |
A |
G |
14: 33,252,407 (GRCm39) |
I656M |
probably benign |
Het |
| Gck |
A |
G |
11: 5,856,516 (GRCm39) |
Y214H |
probably damaging |
Het |
| Gde1 |
C |
T |
7: 118,294,305 (GRCm39) |
R166H |
probably benign |
Het |
| Gdf7 |
A |
T |
12: 8,348,652 (GRCm39) |
F215Y |
unknown |
Het |
| Gdpgp1 |
A |
G |
7: 79,888,282 (GRCm39) |
I104M |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,077,314 (GRCm39) |
S953P |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,337,544 (GRCm39) |
H411Y |
probably benign |
Het |
| Gpn1 |
G |
T |
5: 31,655,740 (GRCm39) |
R101I |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,551 (GRCm39) |
S554T |
possibly damaging |
Het |
| Klhl1 |
G |
A |
14: 96,584,364 (GRCm39) |
L289F |
probably damaging |
Het |
| Klhl13 |
C |
T |
X: 23,113,733 (GRCm39) |
R95Q |
probably benign |
Het |
| Kmt2d |
G |
C |
15: 98,747,832 (GRCm39) |
T3164R |
unknown |
Het |
| Knl1 |
T |
C |
2: 118,899,469 (GRCm39) |
V390A |
probably benign |
Het |
| Krtap5-2 |
GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA |
GCCACAGCCCCCACAGGAACTACA |
7: 141,728,836 (GRCm39) |
|
probably benign |
Het |
| Lamtor4 |
G |
A |
5: 138,254,595 (GRCm39) |
|
probably benign |
Het |
| Lonrf1 |
AGGCGGCGGCGGCGG |
AGGCGGCGGCGG |
8: 36,715,919 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,622,102 (GRCm39) |
L829F |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,622,103 (GRCm39) |
L829H |
probably damaging |
Het |
| Mrgpra1 |
C |
T |
7: 46,984,732 (GRCm39) |
E316K |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,556,966 (GRCm39) |
H3109L |
unknown |
Het |
| Nck1 |
T |
C |
9: 100,377,561 (GRCm39) |
E368G |
probably damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nus1 |
A |
T |
10: 52,305,287 (GRCm39) |
|
probably null |
Het |
| Nxph2 |
T |
C |
2: 23,289,780 (GRCm39) |
V44A |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
| Or4f56 |
A |
G |
2: 111,703,606 (GRCm39) |
M198T |
possibly damaging |
Het |
| Or4k35 |
A |
G |
2: 111,100,094 (GRCm39) |
L206P |
probably benign |
Het |
| Or4z4 |
G |
T |
19: 12,076,254 (GRCm39) |
H250N |
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,330 (GRCm39) |
I88T |
probably benign |
Het |
| Or5m11b |
A |
G |
2: 85,806,096 (GRCm39) |
K170E |
probably benign |
Het |
| Or6d13 |
A |
T |
6: 116,517,990 (GRCm39) |
N192I |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,539,696 (GRCm39) |
D1039G |
possibly damaging |
Het |
| Parpbp |
T |
A |
10: 87,968,969 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Per2 |
A |
T |
1: 91,351,464 (GRCm39) |
L1014Q |
possibly damaging |
Het |
| Pik3ap1 |
C |
G |
19: 41,312,924 (GRCm39) |
|
silent |
Het |
| Pik3ca |
A |
G |
3: 32,514,168 (GRCm39) |
N885D |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,145,056 (GRCm39) |
V299A |
probably benign |
Het |
| Polr3h |
A |
T |
15: 81,806,717 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel23 |
T |
G |
4: 143,425,727 (GRCm39) |
N72T |
probably benign |
Het |
| Pus3 |
C |
A |
9: 35,476,946 (GRCm39) |
Q248K |
probably benign |
Het |
| Sectm1a |
T |
A |
11: 120,960,569 (GRCm39) |
Q82L |
possibly damaging |
Het |
| Sema3e |
A |
G |
5: 14,282,208 (GRCm39) |
Y448C |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,675,774 (GRCm39) |
S584T |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,499,613 (GRCm39) |
F249L |
probably benign |
Het |
| St3gal6 |
T |
A |
16: 58,306,793 (GRCm39) |
N79I |
|
Het |
| Stxbp4 |
A |
T |
11: 90,426,320 (GRCm39) |
I496K |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,878,118 (GRCm39) |
Y202C |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,299,256 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
T |
C |
17: 43,936,305 (GRCm39) |
Y1581C |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,495,061 (GRCm39) |
G1163A |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,758,518 (GRCm39) |
E437G |
probably benign |
Het |
| Txnrd2 |
A |
T |
16: 18,256,315 (GRCm39) |
H101L |
probably damaging |
Het |
| Uba3 |
A |
T |
6: 97,163,671 (GRCm39) |
V306E |
probably damaging |
Het |
| Unc5b |
T |
C |
10: 60,604,152 (GRCm39) |
Q814R |
probably damaging |
Het |
| Vamp5 |
T |
G |
6: 72,347,304 (GRCm39) |
E5A |
possibly damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,064 (GRCm39) |
R222S |
probably damaging |
Het |
| Zfp507 |
G |
A |
7: 35,494,446 (GRCm39) |
T199I |
probably benign |
Het |
| Zfyve19 |
T |
G |
2: 119,041,718 (GRCm39) |
L95R |
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 |
|
|
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 |
|
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'- TGTCCTAAGAACTGTTGAAAGCC -3'
(R):5'- AGCTTGAAAAGGCTGTCAAGAC -3'
Sequencing Primer
(F):5'- TGTTGAAAGCCAGACAGCC -3'
(R):5'- TCAAGACGTGACAGCCAAAGTG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation