Incidental Mutation 'R8264:Abcc4'
| ID |
639747 |
| 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 |
067689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8264 (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 A
at 118832254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 792
(N792I)
|
| 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: N792I
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: N792I
| 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: N717I
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: N717I
| 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: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,543 (GRCm39) |
C911S |
probably damaging |
Het |
| Acacb |
A |
T |
5: 114,345,427 (GRCm39) |
H960L |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,092,873 (GRCm39) |
T162A |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,364,392 (GRCm39) |
S18G |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,300 (GRCm39) |
I348N |
possibly damaging |
Het |
| Cntln |
G |
A |
4: 85,016,648 (GRCm39) |
R12Q |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,795,971 (GRCm39) |
S136P |
possibly damaging |
Het |
| Dnah14 |
T |
A |
1: 181,572,357 (GRCm39) |
M2896K |
probably damaging |
Het |
| Elp6 |
A |
G |
9: 110,148,755 (GRCm39) |
T215A |
probably damaging |
Het |
| Esyt2 |
A |
C |
12: 116,329,540 (GRCm39) |
Q699H |
probably benign |
Het |
| Fbxo25 |
A |
G |
8: 13,979,393 (GRCm39) |
T204A |
possibly damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,362,339 (GRCm39) |
S294P |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Galnt10 |
A |
G |
11: 57,673,032 (GRCm39) |
I463V |
probably benign |
Het |
| Glce |
A |
G |
9: 61,967,712 (GRCm39) |
F480L |
probably benign |
Het |
| H2-Aa |
A |
G |
17: 34,506,709 (GRCm39) |
V11A |
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,593 (GRCm39) |
T191A |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,323,086 (GRCm39) |
|
silent |
Het |
| Izumo4 |
G |
T |
10: 80,538,572 (GRCm39) |
G8V |
|
Het |
| Klk1b5 |
T |
A |
7: 43,869,454 (GRCm39) |
L178H |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,343,218 (GRCm39) |
N85D |
probably benign |
Het |
| Liph |
A |
C |
16: 21,802,721 (GRCm39) |
I116R |
possibly damaging |
Het |
| Lpar5 |
T |
A |
6: 125,058,465 (GRCm39) |
V62D |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,528 (GRCm39) |
I303F |
|
Het |
| Mymk |
A |
G |
2: 26,957,868 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
G |
A |
15: 25,800,195 (GRCm39) |
V1424M |
probably damaging |
Het |
| Myof |
T |
G |
19: 37,909,881 (GRCm39) |
Q1528P |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 27,006,038 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,884,738 (GRCm39) |
Y500N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,538 (GRCm39) |
D180G |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,543 (GRCm39) |
Y835C |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,711,030 (GRCm39) |
E95G |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,870,138 (GRCm39) |
N303K |
possibly damaging |
Het |
| Pnn |
C |
T |
12: 59,119,363 (GRCm39) |
H649Y |
unknown |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,508 (GRCm39) |
Q764* |
probably null |
Het |
| Ralgapa2 |
A |
T |
2: 146,175,370 (GRCm39) |
M1762K |
possibly damaging |
Het |
| Rif1 |
G |
A |
2: 51,980,290 (GRCm39) |
A496T |
noncoding transcript |
Het |
| Rnase13 |
A |
T |
14: 52,159,914 (GRCm39) |
V75D |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,881,537 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
C |
G |
1: 36,591,966 (GRCm39) |
G266R |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,376 (GRCm39) |
D87V |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,290 (GRCm39) |
Y421C |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,271,867 (GRCm39) |
V188A |
probably benign |
Het |
| Srms |
A |
G |
2: 180,854,343 (GRCm39) |
Y75H |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,077 (GRCm39) |
G208S |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,072,390 (GRCm39) |
S2646P |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,042,330 (GRCm39) |
I1130V |
probably benign |
Het |
| Ttf1 |
A |
G |
2: 28,954,689 (GRCm39) |
K18E |
possibly damaging |
Het |
| Unc5b |
G |
T |
10: 60,604,113 (GRCm39) |
T827K |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,302,969 (GRCm39) |
T1672S |
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 |
|
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'- TTACTGTAGAGAATGGGCAGACAC -3'
(R):5'- TGCATCGTCTTTATGTAGAACCTAG -3'
Sequencing Primer
(F):5'- CAGACACGCAGAGGGACTTC -3'
(R):5'- ACCTAGATGTTTATGGGGAAGATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation