Incidental Mutation 'R6008:Abcc4'
| ID |
479614 |
| 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 |
044185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6008 (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 118727978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1268
(L1268P)
|
| 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: L1268P
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: L1268P
| 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: L1193P
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: L1193P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228848
|
| Meta Mutation Damage Score |
0.3804 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.2%
|
| Validation Efficiency |
98% (55/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
A |
12: 84,103,860 (GRCm39) |
V223E |
probably damaging |
Het |
| Afap1 |
T |
G |
5: 36,154,895 (GRCm39) |
S680A |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,116,672 (GRCm39) |
A801V |
probably damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,710,687 (GRCm39) |
T155K |
probably damaging |
Het |
| Bard1 |
C |
A |
1: 71,069,909 (GRCm39) |
V690F |
possibly damaging |
Het |
| Btnl9 |
C |
A |
11: 49,073,792 (GRCm39) |
|
probably null |
Het |
| C1rl |
A |
G |
6: 124,470,147 (GRCm39) |
N13S |
probably benign |
Het |
| Cad |
C |
A |
5: 31,226,456 (GRCm39) |
T1166K |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,393,334 (GRCm39) |
M405K |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,825,944 (GRCm39) |
|
probably null |
Het |
| Ctnna2 |
A |
G |
6: 76,892,811 (GRCm39) |
L792P |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,438,929 (GRCm39) |
V1099D |
possibly damaging |
Het |
| Dnai2 |
A |
G |
11: 114,643,816 (GRCm39) |
N482S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,583,890 (GRCm39) |
T184A |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,546 (GRCm39) |
L68H |
probably damaging |
Het |
| Edn3 |
A |
G |
2: 174,621,525 (GRCm39) |
T149A |
probably benign |
Het |
| Erf |
C |
T |
7: 24,945,041 (GRCm39) |
V131M |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,865,118 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golga1 |
A |
G |
2: 38,937,099 (GRCm39) |
V161A |
probably benign |
Het |
| Gpr17 |
T |
A |
18: 32,080,530 (GRCm39) |
T178S |
probably benign |
Het |
| Gsg1l2 |
T |
A |
11: 67,665,537 (GRCm39) |
I35N |
possibly damaging |
Het |
| Hmgn3 |
T |
A |
9: 82,994,284 (GRCm39) |
T46S |
probably damaging |
Het |
| Hydin |
A |
C |
8: 111,325,717 (GRCm39) |
I4709L |
probably benign |
Het |
| Ifna9 |
A |
T |
4: 88,510,600 (GRCm39) |
L8Q |
probably null |
Het |
| Iftap |
A |
T |
2: 101,413,898 (GRCm39) |
M133K |
possibly damaging |
Het |
| Kpna4 |
T |
C |
3: 69,034,066 (GRCm39) |
E125G |
probably null |
Het |
| Lrriq1 |
A |
G |
10: 103,006,325 (GRCm39) |
S1267P |
probably damaging |
Het |
| Mab21l1 |
G |
T |
3: 55,690,518 (GRCm39) |
C35F |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,336,104 (GRCm39) |
D97G |
probably damaging |
Het |
| Matcap2 |
G |
A |
9: 22,335,422 (GRCm39) |
W13* |
probably null |
Het |
| Mdn1 |
T |
A |
4: 32,741,073 (GRCm39) |
I3799N |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,299,158 (GRCm39) |
R1959C |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,335,557 (GRCm39) |
H1400L |
possibly damaging |
Het |
| Mroh4 |
T |
A |
15: 74,497,321 (GRCm39) |
K167* |
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,094,984 (GRCm39) |
I334T |
probably benign |
Het |
| Or51a25 |
T |
A |
7: 102,373,574 (GRCm39) |
Y41F |
probably damaging |
Het |
| Phf11d |
T |
A |
14: 59,602,898 (GRCm39) |
|
probably benign |
Het |
| Phf21a |
C |
T |
2: 92,182,097 (GRCm39) |
T342I |
possibly damaging |
Het |
| Pira12 |
G |
T |
7: 3,897,599 (GRCm39) |
H499N |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,591 (GRCm39) |
E483G |
possibly damaging |
Het |
| Ppp1r3b |
G |
A |
8: 35,851,355 (GRCm39) |
A65T |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,057,777 (GRCm39) |
T128I |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,496,158 (GRCm39) |
V961A |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,711,561 (GRCm39) |
E96G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,086,025 (GRCm39) |
E522V |
probably damaging |
Het |
| Socs4 |
T |
G |
14: 47,527,618 (GRCm39) |
C184W |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,553 (GRCm39) |
I304F |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,789,306 (GRCm39) |
I1249V |
possibly damaging |
Het |
| Sys1 |
T |
C |
2: 164,306,507 (GRCm39) |
S154P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,755,530 (GRCm39) |
Q275R |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,875 (GRCm39) |
V58A |
possibly damaging |
Het |
| Thada |
T |
A |
17: 84,744,062 (GRCm39) |
I749F |
probably damaging |
Het |
| Tubb1 |
T |
A |
2: 174,299,567 (GRCm39) |
H416Q |
probably benign |
Het |
| Vmn2r109 |
G |
A |
17: 20,760,981 (GRCm39) |
T792I |
probably damaging |
Het |
| Zfp988 |
A |
G |
4: 147,416,259 (GRCm39) |
Q231R |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,684,707 (GRCm39) |
I182V |
possibly damaging |
Het |
| Zzz3 |
T |
C |
3: 152,133,788 (GRCm39) |
V282A |
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 |
|
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 |
|
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'- GTTGAAGCTTTGTCTCCCGAG -3'
(R):5'- AGATCGTCTGTATTCTCCCTGG -3'
Sequencing Primer
(F):5'- CTCCCGAGGCTTATAATTGAAAAGG -3'
(R):5'- GTATTCTCCCTGGCCCCG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation