Incidental Mutation 'R8994:Abcc4'
| ID |
684616 |
| 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 |
068825-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 118771556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036554
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
| 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: ENSMUST00000036554
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
| 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: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,723,471 (GRCm39) |
M952K |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,662,076 (GRCm39) |
N369K |
probably benign |
Het |
| Cd300e |
A |
T |
11: 114,946,348 (GRCm39) |
Y38N |
probably damaging |
Het |
| Crat |
G |
T |
2: 30,297,887 (GRCm39) |
F212L |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,009,807 (GRCm39) |
S3733T |
probably benign |
Het |
| Fam135a |
C |
T |
1: 24,067,621 (GRCm39) |
D1083N |
probably damaging |
Het |
| Fam174a |
C |
A |
1: 95,241,689 (GRCm39) |
P50T |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,849 (GRCm39) |
Y113N |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,341 (GRCm39) |
I204T |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,088,985 (GRCm39) |
V394A |
probably benign |
Het |
| Garin5a |
G |
T |
7: 44,146,342 (GRCm39) |
R16L |
probably benign |
Het |
| Gpbp1 |
C |
A |
13: 111,603,384 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,441,629 (GRCm39) |
F1197Y |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,851,328 (GRCm39) |
T526A |
probably benign |
Het |
| Hnrnpul2 |
T |
C |
19: 8,802,350 (GRCm39) |
C406R |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,695 (GRCm39) |
Q220R |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,935,537 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,110,768 (GRCm39) |
R132Q |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,983,457 (GRCm39) |
S680F |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,279,939 (GRCm39) |
D27G |
|
Het |
| Klk12 |
A |
T |
7: 43,421,485 (GRCm39) |
T180S |
probably damaging |
Het |
| Klk1b27 |
A |
G |
7: 43,705,136 (GRCm39) |
H101R |
probably damaging |
Het |
| Lrp6 |
C |
A |
6: 134,518,656 (GRCm39) |
E136D |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,620 (GRCm39) |
I657V |
probably benign |
Het |
| Med13l |
A |
C |
5: 118,866,226 (GRCm39) |
K427Q |
possibly damaging |
Het |
| Nol10 |
A |
T |
12: 17,402,717 (GRCm39) |
D63V |
probably damaging |
Het |
| Nudcd2 |
A |
G |
11: 40,624,862 (GRCm39) |
T24A |
probably damaging |
Het |
| Nup155 |
T |
C |
15: 8,172,645 (GRCm39) |
|
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or10p1 |
A |
T |
10: 129,444,005 (GRCm39) |
L115H |
probably damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,800 (GRCm39) |
M95K |
probably benign |
Het |
| Or5p81 |
G |
A |
7: 108,267,169 (GRCm39) |
C182Y |
probably damaging |
Het |
| Or8c19-ps1 |
A |
T |
9: 38,220,581 (GRCm39) |
*163Y |
probably null |
Het |
| Piezo1 |
T |
C |
8: 123,209,829 (GRCm39) |
D2314G |
unknown |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,499 (GRCm39) |
F2669L |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,981,157 (GRCm39) |
R178G |
probably damaging |
Het |
| Ppp1r13l |
G |
T |
7: 19,102,695 (GRCm39) |
A37S |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,499,417 (GRCm39) |
T62A |
probably benign |
Het |
| Ranbp2 |
C |
A |
10: 58,315,891 (GRCm39) |
Q2204K |
possibly damaging |
Het |
| Rbm48 |
T |
A |
5: 3,640,795 (GRCm39) |
M195L |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,205,941 (GRCm39) |
E884* |
probably null |
Het |
| Shank3 |
T |
A |
15: 89,417,416 (GRCm39) |
F4L |
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,114,984 (GRCm39) |
V405D |
probably damaging |
Het |
| Slitrk5 |
A |
C |
14: 111,918,227 (GRCm39) |
D617A |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,549,603 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,443,542 (GRCm39) |
T240A |
probably benign |
Het |
| Timm21 |
T |
C |
18: 84,969,489 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,854,538 (GRCm39) |
S904G |
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,632,706 (GRCm39) |
C53R |
unknown |
Het |
| Wdr33 |
T |
C |
18: 31,960,459 (GRCm39) |
L41P |
probably benign |
Het |
| Zfp112 |
A |
C |
7: 23,825,490 (GRCm39) |
H490P |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,355,478 (GRCm39) |
Y184H |
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 |
|
|
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 |
|
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'- CGTTACCAAGCCCATTACCG -3'
(R):5'- AGAAGGAGTCTCTAAAGCACTCTG -3'
Sequencing Primer
(F):5'- GTTACCAAGCCCATTACCGTATCC -3'
(R):5'- ACTCTGCACCTGGGGTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation