Incidental Mutation 'R4665:Abcc4'
ID |
351863 |
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 |
041923-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4665 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 118766414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 886
(I886T)
|
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: I961T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042186 Gene: ENSMUSG00000032849 AA Change: I961T
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: I886T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129677 Gene: ENSMUSG00000032849 AA Change: I886T
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: ENSMUST00000227480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228848
|
Meta Mutation Damage Score |
0.0636 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (89/90) |
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
A |
6: 86,902,059 (GRCm39) |
M76K |
probably null |
Het |
Adam6a |
T |
C |
12: 113,507,992 (GRCm39) |
Y122H |
possibly damaging |
Het |
Adgre1 |
A |
G |
17: 57,787,947 (GRCm39) |
T905A |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,827,312 (GRCm39) |
F969L |
possibly damaging |
Het |
Arhgef4 |
G |
T |
1: 34,845,113 (GRCm39) |
G1439V |
possibly damaging |
Het |
Atm |
A |
G |
9: 53,375,529 (GRCm39) |
W2097R |
probably benign |
Het |
Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
AU016765 |
T |
A |
17: 64,826,916 (GRCm39) |
|
noncoding transcript |
Het |
Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,972,130 (GRCm39) |
T527A |
probably damaging |
Het |
Chmp7 |
A |
T |
14: 69,958,404 (GRCm39) |
V255D |
probably damaging |
Het |
Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
Cpsf2 |
T |
C |
12: 101,949,466 (GRCm39) |
S61P |
probably damaging |
Het |
Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
Crygn |
T |
A |
5: 24,956,019 (GRCm39) |
|
probably benign |
Het |
Csde1 |
C |
T |
3: 102,954,388 (GRCm39) |
T386M |
probably damaging |
Het |
Cux1 |
G |
A |
5: 136,315,653 (GRCm39) |
T1129I |
probably damaging |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,190,835 (GRCm39) |
V11A |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,084,793 (GRCm39) |
E880G |
probably damaging |
Het |
Eml6 |
A |
T |
11: 29,769,007 (GRCm39) |
Y67* |
probably null |
Het |
Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
Fhip1a |
A |
T |
3: 85,637,988 (GRCm39) |
W104R |
probably damaging |
Het |
Gak |
A |
G |
5: 108,730,826 (GRCm39) |
I860T |
probably benign |
Het |
Garem2 |
C |
A |
5: 30,319,665 (GRCm39) |
R376S |
probably damaging |
Het |
Gdf2 |
A |
G |
14: 33,667,408 (GRCm39) |
T377A |
probably damaging |
Het |
Gm2431 |
A |
T |
7: 141,811,440 (GRCm39) |
C155S |
unknown |
Het |
Gm5814 |
A |
G |
17: 47,721,288 (GRCm39) |
M1V |
probably null |
Het |
Gm5901 |
C |
G |
7: 105,026,438 (GRCm39) |
Q69E |
possibly damaging |
Het |
Gm9945 |
A |
G |
11: 53,371,202 (GRCm39) |
|
probably benign |
Het |
Gmps |
T |
C |
3: 63,908,956 (GRCm39) |
V486A |
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
Hoxa11 |
T |
A |
6: 52,220,483 (GRCm39) |
N267Y |
probably damaging |
Het |
Ifngr2 |
C |
A |
16: 91,356,926 (GRCm39) |
H153Q |
possibly damaging |
Het |
Ift172 |
G |
T |
5: 31,442,598 (GRCm39) |
Q190K |
possibly damaging |
Het |
Iqch |
A |
G |
9: 63,352,853 (GRCm39) |
V899A |
probably damaging |
Het |
Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
Lig3 |
G |
A |
11: 82,691,076 (GRCm39) |
V110M |
probably damaging |
Het |
Lin54 |
C |
A |
5: 100,600,943 (GRCm39) |
Q262H |
possibly damaging |
Het |
Lingo3 |
G |
A |
10: 80,671,372 (GRCm39) |
T186I |
probably damaging |
Het |
Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
Ly86 |
T |
A |
13: 37,559,010 (GRCm39) |
F70I |
probably damaging |
Het |
Mospd2 |
A |
T |
X: 163,730,329 (GRCm39) |
S301T |
probably benign |
Het |
Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,395,705 (GRCm39) |
|
probably null |
Het |
Nme8 |
C |
G |
13: 19,858,605 (GRCm39) |
A78P |
probably damaging |
Het |
Obscn |
C |
T |
11: 59,015,578 (GRCm39) |
V965M |
probably damaging |
Het |
Or10ag57 |
T |
A |
2: 87,218,220 (GRCm39) |
I57K |
probably damaging |
Het |
Parn |
T |
C |
16: 13,358,967 (GRCm39) |
K592E |
probably benign |
Het |
Pax6 |
C |
A |
2: 105,514,343 (GRCm39) |
|
probably benign |
Het |
Pdcd6 |
A |
T |
13: 74,465,325 (GRCm39) |
M1K |
probably null |
Het |
Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
Phldb3 |
C |
T |
7: 24,310,852 (GRCm39) |
A28V |
probably benign |
Het |
Pkn3 |
C |
A |
2: 29,975,469 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
T |
C |
17: 31,814,300 (GRCm39) |
|
probably null |
Het |
Ptprg |
A |
C |
14: 12,215,288 (GRCm38) |
I1092L |
possibly damaging |
Het |
Pxylp1 |
A |
C |
9: 96,707,338 (GRCm39) |
I281M |
probably damaging |
Het |
Ramac |
C |
T |
7: 81,418,178 (GRCm39) |
R78W |
probably damaging |
Het |
Retreg2 |
G |
T |
1: 75,121,310 (GRCm39) |
L195F |
probably damaging |
Het |
Rgs20 |
G |
C |
1: 5,091,231 (GRCm39) |
F66L |
probably benign |
Het |
Ripk4 |
C |
T |
16: 97,556,273 (GRCm39) |
V157I |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,765,571 (GRCm39) |
|
probably null |
Het |
Scaper |
A |
T |
9: 55,819,339 (GRCm39) |
S125R |
probably damaging |
Het |
Sec16a |
C |
T |
2: 26,302,970 (GRCm39) |
|
probably benign |
Het |
Slc35f6 |
T |
C |
5: 30,812,957 (GRCm39) |
L37P |
probably damaging |
Het |
Slc6a12 |
T |
A |
6: 121,335,972 (GRCm39) |
|
probably benign |
Het |
Slc9a5 |
A |
G |
8: 106,094,760 (GRCm39) |
K784E |
probably damaging |
Het |
Snd1 |
T |
C |
6: 28,707,053 (GRCm39) |
V455A |
probably damaging |
Het |
Ssbp2 |
A |
T |
13: 91,687,454 (GRCm39) |
I46L |
possibly damaging |
Het |
Stil |
A |
G |
4: 114,898,841 (GRCm39) |
D1157G |
probably benign |
Het |
Tax1bp1 |
T |
A |
6: 52,714,116 (GRCm39) |
C271S |
probably benign |
Het |
Tdpoz6 |
G |
A |
3: 93,599,776 (GRCm39) |
H198Y |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,935,007 (GRCm39) |
M2014L |
probably benign |
Het |
Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
Tmprss11d |
T |
C |
5: 86,457,260 (GRCm39) |
D133G |
probably damaging |
Het |
Tpr |
C |
T |
1: 150,320,150 (GRCm39) |
R2233W |
probably damaging |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Vgll1 |
A |
G |
X: 56,137,792 (GRCm39) |
R54G |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,306 (GRCm39) |
T673A |
probably benign |
Het |
Zfp169 |
C |
T |
13: 48,644,339 (GRCm39) |
|
probably benign |
Het |
Zfp319 |
G |
A |
8: 96,052,201 (GRCm39) |
|
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 |
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 |
|
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'- AAGCAGACCATCTCACTGGG -3'
(R):5'- CTGTTCTGTCAGCATCTCAGGAC -3'
Sequencing Primer
(F):5'- TATCCACCCTGACGTGTAGTAAGAG -3'
(R):5'- AGCATCTCAGGACCCCCG -3'
|
Posted On |
2015-10-08 |