Incidental Mutation 'R9008:Abcc4'
ID |
685459 |
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 |
068838-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9008 (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 T
at 118849162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 536
(S536R)
|
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: S536R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849 AA Change: S536R
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: S461R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849 AA Change: S461R
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 |
|
Meta Mutation Damage Score |
0.9529 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
98% (78/80) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
A |
5: 114,386,815 (GRCm39) |
|
silent |
Het |
Acsm1 |
T |
C |
7: 119,258,325 (GRCm39) |
Y473H |
probably benign |
Het |
Adam30 |
T |
A |
3: 98,070,034 (GRCm39) |
C622* |
probably null |
Het |
Adprs |
C |
T |
4: 126,210,632 (GRCm39) |
V283M |
probably damaging |
Het |
AI606181 |
G |
T |
19: 41,582,032 (GRCm39) |
R67S |
unknown |
Het |
Btbd3 |
A |
G |
2: 138,125,453 (GRCm39) |
I212M |
probably benign |
Het |
C1s1 |
C |
T |
6: 124,509,499 (GRCm39) |
|
probably null |
Het |
C7 |
T |
A |
15: 5,040,409 (GRCm39) |
T539S |
|
Het |
Cd5l |
A |
C |
3: 87,275,972 (GRCm39) |
D314A |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,706,151 (GRCm39) |
V878E |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,503,121 (GRCm39) |
S38P |
|
Het |
Chst2 |
C |
T |
9: 95,288,347 (GRCm39) |
|
probably benign |
Het |
Deaf1 |
T |
C |
7: 140,904,078 (GRCm39) |
T103A |
probably damaging |
Het |
Deup1 |
T |
A |
9: 15,511,140 (GRCm39) |
D213V |
probably damaging |
Het |
Dhrs1 |
A |
G |
14: 55,978,638 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
G |
1: 53,701,501 (GRCm39) |
V218A |
possibly damaging |
Het |
Dock7 |
G |
A |
4: 98,833,448 (GRCm39) |
Q1950* |
probably null |
Het |
Ehf |
G |
A |
2: 103,097,173 (GRCm39) |
R283W |
|
Het |
Elovl3 |
A |
T |
19: 46,123,087 (GRCm39) |
N221I |
possibly damaging |
Het |
Gm11938 |
A |
T |
11: 99,493,966 (GRCm39) |
V43E |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,630,795 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
G |
3: 3,708,096 (GRCm39) |
N115S |
probably benign |
Het |
Hnrnpr |
A |
T |
4: 136,056,737 (GRCm39) |
N246Y |
probably damaging |
Het |
Itpka |
A |
G |
2: 119,579,894 (GRCm39) |
E211G |
probably damaging |
Het |
Krt78 |
TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA |
TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA |
15: 101,855,211 (GRCm39) |
|
probably benign |
Het |
Lcorl |
A |
T |
5: 45,931,516 (GRCm39) |
|
probably benign |
Het |
Lypd9 |
T |
A |
11: 58,338,209 (GRCm39) |
E61V |
probably benign |
Het |
Mgat5 |
T |
C |
1: 127,407,308 (GRCm39) |
I658T |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mov10 |
A |
G |
3: 104,707,332 (GRCm39) |
Y606H |
probably benign |
Het |
Naa38 |
T |
G |
11: 69,287,148 (GRCm39) |
V76G |
probably damaging |
Het |
Nelfe |
C |
A |
17: 35,073,334 (GRCm39) |
P290T |
possibly damaging |
Het |
Nfil3 |
A |
T |
13: 53,121,609 (GRCm39) |
Y432N |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,356,608 (GRCm39) |
K1593E |
probably damaging |
Het |
Nlrc3 |
G |
C |
16: 3,776,807 (GRCm39) |
L56V |
possibly damaging |
Het |
Nlrp1a |
A |
T |
11: 71,014,735 (GRCm39) |
F172I |
possibly damaging |
Het |
Ntn4 |
T |
A |
10: 93,569,466 (GRCm39) |
|
probably benign |
Het |
Nudt2 |
G |
A |
4: 41,480,288 (GRCm39) |
R57Q |
probably damaging |
Het |
Obsl1 |
A |
C |
1: 75,482,027 (GRCm39) |
L281W |
probably benign |
Het |
Olfm4 |
A |
T |
14: 80,255,607 (GRCm39) |
N250I |
unknown |
Het |
Or10aa3 |
T |
A |
1: 173,878,413 (GRCm39) |
V158E |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or2m13 |
T |
A |
16: 19,226,173 (GRCm39) |
I198F |
probably benign |
Het |
Or2r2 |
T |
C |
6: 42,463,903 (GRCm39) |
S75G |
probably damaging |
Het |
Or5p50 |
A |
G |
7: 107,422,628 (GRCm39) |
I16T |
possibly damaging |
Het |
Pappa |
A |
T |
4: 65,074,426 (GRCm39) |
T327S |
probably damaging |
Het |
Pcdhb4 |
T |
G |
18: 37,440,714 (GRCm39) |
M8R |
probably benign |
Het |
Phf21b |
T |
A |
15: 84,671,563 (GRCm39) |
I444F |
probably damaging |
Het |
Pkd1l2 |
A |
C |
8: 117,769,037 (GRCm39) |
V1205G |
probably benign |
Het |
Plec |
T |
C |
15: 76,060,232 (GRCm39) |
Y3235C |
probably damaging |
Het |
Pnmt |
C |
T |
11: 98,278,832 (GRCm39) |
T266I |
possibly damaging |
Het |
Ppfia2 |
T |
A |
10: 106,655,220 (GRCm39) |
D262E |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,955,913 (GRCm39) |
L448Q |
probably damaging |
Het |
Rap1gds1 |
C |
T |
3: 138,661,177 (GRCm39) |
R449H |
probably benign |
Het |
Rictor |
T |
A |
15: 6,801,610 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,027,556 (GRCm39) |
F557S |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,465,748 (GRCm39) |
C4809R |
probably damaging |
Het |
Sacs |
A |
C |
14: 61,441,992 (GRCm39) |
D1346A |
probably benign |
Het |
Slain1 |
T |
A |
14: 103,923,191 (GRCm39) |
S261T |
probably damaging |
Het |
Slc22a4 |
C |
T |
11: 53,881,664 (GRCm39) |
W351* |
probably null |
Het |
Smpd3 |
C |
T |
8: 106,984,058 (GRCm39) |
G554S |
probably benign |
Het |
Spag17 |
C |
T |
3: 99,934,942 (GRCm39) |
S716F |
possibly damaging |
Het |
Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,900,413 (GRCm39) |
M1546I |
probably benign |
Het |
Spmip11 |
T |
G |
15: 98,486,493 (GRCm39) |
S88A |
possibly damaging |
Het |
Stac3 |
C |
T |
10: 127,339,454 (GRCm39) |
L117F |
probably damaging |
Het |
Surf6 |
A |
G |
2: 26,782,536 (GRCm39) |
W264R |
probably damaging |
Het |
Taar7e |
T |
C |
10: 23,913,810 (GRCm39) |
V100A |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,795,688 (GRCm39) |
H534R |
probably damaging |
Het |
Tinagl1 |
C |
A |
4: 130,067,823 (GRCm39) |
R57L |
probably damaging |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Traf6 |
A |
G |
2: 101,527,333 (GRCm39) |
Y361C |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,777,334 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
A |
T |
4: 25,254,778 (GRCm39) |
Y559* |
probably null |
Het |
Upk1b |
A |
T |
16: 38,607,570 (GRCm39) |
N52K |
probably damaging |
Het |
Uqcrb |
A |
G |
13: 67,053,363 (GRCm39) |
S5P |
probably benign |
Het |
Use1 |
A |
G |
8: 71,819,688 (GRCm39) |
Y3C |
unknown |
Het |
Usp9y |
T |
A |
Y: 1,434,993 (GRCm39) |
I279L |
possibly damaging |
Het |
Vmn1r142 |
A |
G |
7: 21,862,796 (GRCm39) |
L222P |
probably damaging |
Het |
Vmn1r184 |
A |
C |
7: 25,967,177 (GRCm39) |
N308H |
probably benign |
Het |
Vmn2r14 |
C |
A |
5: 109,367,893 (GRCm39) |
M366I |
probably benign |
Het |
Vmn2r73 |
G |
T |
7: 85,521,904 (GRCm39) |
S145Y |
probably damaging |
Het |
Wdfy1 |
A |
T |
1: 79,692,697 (GRCm39) |
W207R |
probably damaging |
Het |
Zbtb38 |
A |
T |
9: 96,569,100 (GRCm39) |
N661K |
probably benign |
Het |
Zkscan3 |
G |
T |
13: 21,572,383 (GRCm39) |
H416Q |
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 |
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 |
|
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'- ATCCAGGCTCATGGCAACTG -3'
(R):5'- GGTCATTGCTTAGCACACAC -3'
Sequencing Primer
(F):5'- CAACTGGGTGTTCATTTGAAGTATCC -3'
(R):5'- AATGCAATGCCCTGAGTGC -3'
|
Posted On |
2021-10-11 |