Incidental Mutation 'R7055:Abcc4'
| ID |
547881 |
| 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 |
045152-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 118832197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 736
(L736*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036554
AA Change: L811*
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: L811*
| 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
AA Change: L736*
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: L736*
| 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: 99.0%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,083 (GRCm39) |
S178P |
probably damaging |
Het |
| 2610008E11Rik |
C |
T |
10: 78,903,681 (GRCm39) |
E212K |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,681,570 (GRCm39) |
M178L |
probably benign |
Het |
| Adpgk |
T |
A |
9: 59,220,476 (GRCm39) |
M266K |
possibly damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,802,909 (GRCm39) |
R149H |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,338,927 (GRCm39) |
T307A |
probably benign |
Het |
| C1galt1 |
T |
C |
6: 7,866,585 (GRCm39) |
Y144H |
probably damaging |
Het |
| Cabin1 |
G |
C |
10: 75,579,117 (GRCm39) |
Q440E |
probably benign |
Het |
| Casq2 |
A |
G |
3: 102,049,561 (GRCm39) |
S231G |
probably damaging |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,558,342 (GRCm39) |
I490T |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,702,149 (GRCm39) |
V314E |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,496,757 (GRCm39) |
E413G |
unknown |
Het |
| Cyp3a25 |
A |
C |
5: 145,929,801 (GRCm39) |
F189L |
probably benign |
Het |
| Dido1 |
T |
A |
2: 180,303,002 (GRCm39) |
H1634L |
probably benign |
Het |
| Dnaja2 |
A |
C |
8: 86,275,303 (GRCm39) |
V156G |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,290,291 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
T |
9: 118,309,567 (GRCm39) |
N240I |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,229 (GRCm39) |
F199L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fndc4 |
T |
C |
5: 31,451,522 (GRCm39) |
E153G |
probably benign |
Het |
| Fv1 |
TTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTC |
4: 147,954,775 (GRCm39) |
|
probably null |
Het |
| Fzr1 |
T |
C |
10: 81,206,057 (GRCm39) |
Y210C |
probably damaging |
Het |
| Gjc2 |
T |
A |
11: 59,067,856 (GRCm39) |
M209L |
unknown |
Het |
| Gpr33 |
A |
G |
12: 52,071,036 (GRCm39) |
M1T |
probably null |
Het |
| Gtf2a1 |
A |
T |
12: 91,553,523 (GRCm39) |
I28N |
possibly damaging |
Het |
| Igf2r |
A |
C |
17: 12,923,210 (GRCm39) |
Y1200D |
probably damaging |
Het |
| Ivd |
C |
T |
2: 118,703,730 (GRCm39) |
T212I |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,957,409 (GRCm39) |
V101A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,404,701 (GRCm39) |
V83D |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,006 (GRCm39) |
I249F |
probably benign |
Het |
| Krtap21-1 |
G |
A |
16: 89,200,591 (GRCm39) |
S17L |
unknown |
Het |
| Macf1 |
A |
T |
4: 123,302,989 (GRCm39) |
H504Q |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,983 (GRCm39) |
T1499A |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,770,982 (GRCm39) |
T892A |
probably damaging |
Het |
| Mcl1 |
G |
A |
3: 95,567,110 (GRCm39) |
V178I |
probably benign |
Het |
| Mrs2 |
T |
A |
13: 25,188,937 (GRCm39) |
M126L |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,005 (GRCm39) |
N9K |
probably benign |
Het |
| Myh9 |
C |
T |
15: 77,659,398 (GRCm39) |
R116H |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,248,662 (GRCm39) |
D308E |
probably benign |
Het |
| Nme2 |
T |
A |
11: 93,846,416 (GRCm39) |
I11F |
probably damaging |
Het |
| Nmnat3 |
A |
G |
9: 98,292,286 (GRCm39) |
D111G |
probably benign |
Het |
| Or5d37 |
T |
A |
2: 87,924,045 (GRCm39) |
L78F |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,641,827 (GRCm39) |
W501R |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,443,998 (GRCm39) |
I384T |
possibly damaging |
Het |
| Pcdhb18 |
A |
G |
18: 37,623,864 (GRCm39) |
D398G |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,771 (GRCm39) |
N102D |
probably benign |
Het |
| Pdzrn3 |
C |
A |
6: 101,128,735 (GRCm39) |
E644* |
probably null |
Het |
| Pi4ka |
T |
A |
16: 17,134,879 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,668,040 (GRCm39) |
F216L |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,457 (GRCm39) |
*522W |
probably null |
Het |
| Prkcz |
G |
T |
4: 155,374,091 (GRCm39) |
D108E |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,748,465 (GRCm39) |
V646A |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,017,309 (GRCm39) |
I483T |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,044,485 (GRCm39) |
I527T |
possibly damaging |
Het |
| Rad50 |
T |
C |
11: 53,578,929 (GRCm39) |
K543R |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
| Sbpl |
A |
T |
17: 24,172,276 (GRCm39) |
N214K |
unknown |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,907 (GRCm39) |
E60K |
possibly damaging |
Het |
| Sgk3 |
G |
A |
1: 9,956,284 (GRCm39) |
E331K |
probably damaging |
Het |
| Snx6 |
A |
T |
12: 54,830,864 (GRCm39) |
L32Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,723,924 (GRCm39) |
Q512L |
probably damaging |
Het |
| Srsf12 |
A |
G |
4: 33,226,157 (GRCm39) |
D135G |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,026,858 (GRCm39) |
T274A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,064,275 (GRCm39) |
V3236D |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,120,642 (GRCm39) |
F797Y |
probably benign |
Het |
| Tmem116 |
T |
C |
5: 121,605,987 (GRCm39) |
L113P |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,951,457 (GRCm39) |
V161A |
probably damaging |
Het |
| Tnpo1 |
G |
T |
13: 98,991,987 (GRCm39) |
Q622K |
possibly damaging |
Het |
| Top1mt |
A |
G |
15: 75,550,523 (GRCm39) |
V28A |
probably benign |
Het |
| Trim25 |
T |
C |
11: 88,890,750 (GRCm39) |
S146P |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,566,935 (GRCm39) |
D392G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,623,665 (GRCm39) |
R191Q |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy2 |
T |
A |
14: 63,137,748 (GRCm39) |
S84T |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,895,832 (GRCm39) |
F225I |
probably 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 |
|
|
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'- AAGTCCATGCAGCTGATATGTAG -3'
(R):5'- AACTGTCGGGTTGTAGAAGG -3'
Sequencing Primer
(F):5'- CCATGCAGCTGATATGTAGATTTGC -3'
(R):5'- GAAGTGTGTCATTTCCTCAGGATCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation