Incidental Mutation 'R7013:Abcc4'
| ID |
545145 |
| 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 |
045114-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7013 (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 118763755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 952
(C952S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036554
AA Change: C1027S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: C1027S
| 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 benign
Transcript: ENSMUST00000166646
AA Change: C952S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: C952S
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,618,345 (GRCm39) |
I213V |
probably null |
Het |
| Adhfe1 |
T |
C |
1: 9,620,816 (GRCm39) |
|
probably benign |
Het |
| Apob |
T |
A |
12: 8,060,080 (GRCm39) |
L2854* |
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,109 (GRCm39) |
N693K |
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,933,649 (GRCm39) |
V508A |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 70,000,214 (GRCm39) |
E288G |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,806,270 (GRCm39) |
S455P |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,857,392 (GRCm39) |
L63Q |
probably damaging |
Het |
| Crmp1 |
A |
T |
5: 37,426,036 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,780 (GRCm39) |
D528G |
unknown |
Het |
| Dact2 |
T |
C |
17: 14,423,796 (GRCm39) |
T66A |
probably benign |
Het |
| Dkk2 |
T |
C |
3: 131,880,760 (GRCm39) |
L135P |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,278,129 (GRCm39) |
N381S |
probably benign |
Het |
| Dsg4 |
T |
C |
18: 20,591,578 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,114,340 (GRCm39) |
P1240S |
probably damaging |
Het |
| Esyt1 |
A |
T |
10: 128,361,520 (GRCm39) |
V58E |
probably damaging |
Het |
| Exo1 |
G |
T |
1: 175,721,338 (GRCm39) |
A326S |
probably damaging |
Het |
| Fam20b |
A |
G |
1: 156,518,135 (GRCm39) |
S220P |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,745,817 (GRCm39) |
T402I |
probably benign |
Het |
| Galnt10 |
A |
T |
11: 57,656,410 (GRCm39) |
D198V |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,483,108 (GRCm39) |
E604D |
probably benign |
Het |
| Il20rb |
A |
G |
9: 100,343,481 (GRCm39) |
Y258H |
probably benign |
Het |
| Impg1 |
A |
T |
9: 80,285,776 (GRCm39) |
S409R |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,131,425 (GRCm39) |
V97F |
possibly damaging |
Het |
| Lbhd1 |
T |
C |
19: 8,861,523 (GRCm39) |
S52P |
probably damaging |
Het |
| Lman2l |
A |
G |
1: 36,482,599 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,788,625 (GRCm39) |
M493I |
probably benign |
Het |
| Mpp4 |
T |
C |
1: 59,188,774 (GRCm39) |
D132G |
probably damaging |
Het |
| Nlrp1a |
G |
A |
11: 71,014,378 (GRCm39) |
R291W |
probably benign |
Het |
| Or1e23 |
G |
T |
11: 73,407,247 (GRCm39) |
Y259* |
probably null |
Het |
| Or4a79 |
T |
A |
2: 89,551,730 (GRCm39) |
I242F |
probably benign |
Het |
| Or4b13 |
C |
T |
2: 90,082,441 (GRCm39) |
R297Q |
possibly damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,308 (GRCm39) |
A37V |
probably benign |
Het |
| Or4n4b |
T |
A |
14: 50,536,656 (GRCm39) |
I37F |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,738,787 (GRCm39) |
V158A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,674 (GRCm39) |
N376D |
probably damaging |
Het |
| Ptprr |
T |
A |
10: 116,072,659 (GRCm39) |
I207N |
probably damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,402 (GRCm39) |
V698A |
probably benign |
Het |
| Rnf212 |
A |
T |
5: 108,877,826 (GRCm39) |
M222K |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,839,365 (GRCm39) |
K121E |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,655,296 (GRCm39) |
V335D |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,215,222 (GRCm39) |
C251* |
probably null |
Het |
| Tmprss11d |
C |
A |
5: 86,474,432 (GRCm39) |
R37L |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,576,265 (GRCm39) |
N904S |
possibly damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,714 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r66 |
T |
C |
7: 10,008,683 (GRCm39) |
R117G |
possibly damaging |
Het |
| Zfp106 |
T |
C |
2: 120,362,113 (GRCm39) |
D1025G |
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 |
|
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'- TCAGCCGGATATCCACATGG -3'
(R):5'- TCACAGTCTTCAATAGTCTCAGTTAGC -3'
Sequencing Primer
(F):5'- CCCGGTATCTTTAGCTGAAAGTCTAG -3'
(R):5'- TAGTCTCAGTTAGCATCAAGACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation