Incidental Mutation 'R5652:Abcc4'
| ID |
441520 |
| 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 |
043298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5652 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
118720104-118943631 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118856339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 334
(I334V)
|
| 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: I409V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: I409V
| 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: I334V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: I334V
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Adamts5 |
C |
T |
16: 85,696,156 (GRCm39) |
A334T |
probably damaging |
Het |
| Adcy4 |
G |
C |
14: 56,010,900 (GRCm39) |
F672L |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,656,444 (GRCm39) |
Y254C |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,174,065 (GRCm39) |
S115P |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,134,356 (GRCm39) |
S1110C |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,915,064 (GRCm39) |
N401K |
probably damaging |
Het |
| Atp23 |
A |
T |
10: 126,735,494 (GRCm39) |
N63K |
possibly damaging |
Het |
| Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,304,051 (GRCm39) |
D2364G |
probably null |
Het |
| Celsr3 |
G |
A |
9: 108,715,671 (GRCm39) |
D2116N |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,389,279 (GRCm39) |
S1518P |
probably damaging |
Het |
| Clcn3 |
C |
A |
8: 61,372,387 (GRCm39) |
V758L |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,626 (GRCm39) |
V203A |
probably benign |
Het |
| Ctsf |
T |
C |
19: 4,908,505 (GRCm39) |
L288P |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,575,484 (GRCm39) |
T334A |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 37,691,138 (GRCm39) |
I260T |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,865,201 (GRCm39) |
H47R |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,632,422 (GRCm39) |
V4514I |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,116,638 (GRCm39) |
M66K |
probably benign |
Het |
| Fam186a |
T |
G |
15: 99,843,253 (GRCm39) |
Y997S |
possibly damaging |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,057,117 (GRCm39) |
T4271I |
probably damaging |
Het |
| Fdxacb1 |
T |
A |
9: 50,679,705 (GRCm39) |
L41Q |
probably damaging |
Het |
| Fgfr2 |
C |
T |
7: 129,863,593 (GRCm39) |
V18M |
probably damaging |
Het |
| Gpa33 |
A |
C |
1: 165,992,714 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
A |
G |
2: 31,075,601 (GRCm39) |
I371V |
probably benign |
Het |
| H1f6 |
A |
G |
13: 23,880,219 (GRCm39) |
K124R |
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,581,720 (GRCm39) |
V420A |
probably damaging |
Het |
| Iglc3 |
A |
G |
16: 18,884,420 (GRCm39) |
|
probably benign |
Het |
| Igtp |
A |
G |
11: 58,097,455 (GRCm39) |
T209A |
probably benign |
Het |
| Itgb7 |
T |
A |
15: 102,124,638 (GRCm39) |
N793I |
possibly damaging |
Het |
| Kansl1 |
G |
A |
11: 104,228,992 (GRCm39) |
R870C |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,899,811 (GRCm39) |
R27C |
probably damaging |
Het |
| Kif2b |
T |
A |
11: 91,466,656 (GRCm39) |
E542D |
possibly damaging |
Het |
| Klhl24 |
C |
A |
16: 19,938,997 (GRCm39) |
Y517* |
probably null |
Het |
| Klhl25 |
A |
G |
7: 75,515,895 (GRCm39) |
D267G |
probably benign |
Het |
| Krr1 |
C |
A |
10: 111,813,288 (GRCm39) |
F195L |
possibly damaging |
Het |
| Lsr |
C |
T |
7: 30,658,456 (GRCm39) |
G95D |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,335,786 (GRCm39) |
T135A |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,473,055 (GRCm39) |
I504N |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,817,140 (GRCm39) |
R70G |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,971,580 (GRCm39) |
Q820L |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,803 (GRCm39) |
H863Q |
probably benign |
Het |
| Nudt9 |
G |
A |
5: 104,207,646 (GRCm39) |
V213M |
probably benign |
Het |
| Or5ak4 |
T |
A |
2: 85,161,717 (GRCm39) |
N175I |
probably damaging |
Het |
| Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
| Or7g16 |
A |
G |
9: 18,726,922 (GRCm39) |
S223P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,092,111 (GRCm39) |
T3A |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,505,231 (GRCm39) |
F475L |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,604,289 (GRCm39) |
L183* |
probably null |
Het |
| Pcdh20 |
T |
C |
14: 88,704,760 (GRCm39) |
T847A |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,889 (GRCm39) |
|
probably null |
Het |
| Pip5k1a |
T |
C |
3: 94,974,750 (GRCm39) |
N376S |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,859,889 (GRCm39) |
E573G |
probably benign |
Het |
| Pkp1 |
T |
A |
1: 135,810,335 (GRCm39) |
|
probably null |
Het |
| Pum1 |
T |
C |
4: 130,491,438 (GRCm39) |
I643T |
possibly damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,656,318 (GRCm39) |
S328P |
probably benign |
Het |
| Raver1 |
A |
G |
9: 21,001,608 (GRCm39) |
V75A |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,135,408 (GRCm39) |
E511G |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,049,823 (GRCm39) |
T544S |
probably damaging |
Het |
| Sdcbp2 |
T |
C |
2: 151,431,135 (GRCm39) |
V248A |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,867,942 (GRCm39) |
D506G |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,428,044 (GRCm39) |
E286G |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,812 (GRCm39) |
I660V |
probably damaging |
Het |
| Stk38l |
G |
T |
6: 146,674,826 (GRCm39) |
D364Y |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,000,498 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
T |
A |
15: 57,815,062 (GRCm39) |
S580T |
probably damaging |
Het |
| Tcerg1l |
G |
A |
7: 137,881,775 (GRCm39) |
R305C |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,743,561 (GRCm39) |
Y859N |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,191 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
A |
T |
5: 127,861,859 (GRCm39) |
I754N |
possibly damaging |
Het |
| Togaram1 |
G |
A |
12: 65,063,424 (GRCm39) |
V1580I |
probably benign |
Het |
| Troap |
A |
G |
15: 98,980,145 (GRCm39) |
T442A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Twnk |
T |
A |
19: 44,995,732 (GRCm39) |
V55E |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,255,234 (GRCm39) |
Y225* |
probably null |
Het |
| Vmn2r109 |
A |
G |
17: 20,760,781 (GRCm39) |
*859Q |
probably null |
Het |
| Vmn2r17 |
A |
T |
5: 109,577,430 (GRCm39) |
I494L |
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,029 (GRCm39) |
V746A |
probably damaging |
Het |
| Yae1d1 |
A |
G |
13: 18,166,291 (GRCm39) |
L57P |
probably damaging |
Het |
| Zfp26 |
G |
A |
9: 20,349,137 (GRCm39) |
R476* |
probably null |
Het |
| Zmynd8 |
T |
A |
2: 165,649,618 (GRCm39) |
Q816L |
probably damaging |
Het |
| Zswim8 |
A |
T |
14: 20,763,495 (GRCm39) |
H414L |
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 |
|
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'- AAACAACTTTCAAGTTTGGGGATT -3'
(R):5'- AGCATGTTCTGATACGATTTCACATT -3'
Sequencing Primer
(F):5'- CAACTTTCAAGTTTGGGGATTTTAAG -3'
(R):5'- AGTATAACTGGTGAGAGTCTCCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation