Incidental Mutation 'R7438:Abcc4'
| ID |
576772 |
| 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 |
045514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7438 (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 C
at 118853858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 425
(S425G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036554]
[ENSMUST00000166646]
|
| AlphaFold |
E9Q236 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036554
AA Change: S425G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: S425G
| 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: S350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: S350G
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (88/88) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
G |
8: 56,324,609 (GRCm39) |
I615T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,818 (GRCm39) |
I67N |
probably damaging |
Het |
| Asxl2 |
C |
T |
12: 3,477,108 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,260,014 (GRCm39) |
G607D |
|
Het |
| Atp2c2 |
G |
A |
8: 120,474,936 (GRCm39) |
V514M |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,468,082 (GRCm39) |
C311R |
possibly damaging |
Het |
| Becn1 |
A |
C |
11: 101,185,052 (GRCm39) |
S137R |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| C8a |
T |
C |
4: 104,718,626 (GRCm39) |
K110E |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,714 (GRCm39) |
|
probably null |
Het |
| Capn8 |
T |
A |
1: 182,426,240 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,508,512 (GRCm39) |
Q579* |
probably null |
Het |
| Cenpa |
G |
T |
5: 30,824,292 (GRCm39) |
|
probably benign |
Het |
| Cltc |
A |
G |
11: 86,616,054 (GRCm39) |
V404A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,802,710 (GRCm39) |
L261Q |
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,170,436 (GRCm39) |
S249R |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,155 (GRCm39) |
I2796F |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,673,222 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,347,098 (GRCm39) |
D2527V |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,685 (GRCm39) |
R767Q |
probably damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,338 (GRCm39) |
I118T |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,876,275 (GRCm39) |
F354S |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,899,778 (GRCm39) |
V3085A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,440,516 (GRCm39) |
D711G |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,267,503 (GRCm39) |
V318F |
probably benign |
Het |
| Gal3st1 |
C |
A |
11: 3,948,227 (GRCm39) |
H145N |
probably benign |
Het |
| Helz |
C |
T |
11: 107,552,856 (GRCm39) |
P1211S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,302,038 (GRCm39) |
I667V |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,753,466 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,308,387 (GRCm39) |
T209I |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,485 (GRCm39) |
Y678H |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,095 (GRCm39) |
D109G |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,534,403 (GRCm39) |
V420A |
possibly damaging |
Het |
| Kcnk13 |
C |
A |
12: 100,027,985 (GRCm39) |
N353K |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,877,999 (GRCm39) |
F270L |
probably benign |
Het |
| Kit |
T |
A |
5: 75,799,660 (GRCm39) |
V464D |
probably benign |
Het |
| Klhl36 |
G |
A |
8: 120,596,914 (GRCm39) |
W205* |
probably null |
Het |
| Krt17 |
A |
G |
11: 100,149,291 (GRCm39) |
Y260H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,588,706 (GRCm39) |
Q1108* |
probably null |
Het |
| Lrch1 |
G |
A |
14: 74,994,477 (GRCm39) |
T709I |
possibly damaging |
Het |
| Lrrc58 |
C |
A |
16: 37,689,053 (GRCm39) |
Q66K |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,999,682 (GRCm39) |
A664T |
|
Het |
| Mtmr6 |
C |
T |
14: 60,537,753 (GRCm39) |
T546M |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,910,449 (GRCm39) |
F1288L |
probably damaging |
Het |
| Nwd1 |
G |
T |
8: 73,434,458 (GRCm39) |
V1352L |
probably benign |
Het |
| Or4k77 |
T |
A |
2: 111,199,707 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5ac17 |
A |
T |
16: 59,036,761 (GRCm39) |
C72S |
probably benign |
Het |
| Ovol3 |
C |
T |
7: 29,934,646 (GRCm39) |
|
probably null |
Het |
| Palb2 |
C |
A |
7: 121,716,554 (GRCm39) |
V843L |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,878 (GRCm39) |
|
probably null |
Het |
| Per1 |
A |
G |
11: 68,995,561 (GRCm39) |
S714G |
possibly damaging |
Het |
| Plch2 |
G |
A |
4: 155,084,917 (GRCm39) |
R442C |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,289,080 (GRCm39) |
S26R |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,115,378 (GRCm39) |
N834Y |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,382,130 (GRCm39) |
I189V |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,749,795 (GRCm39) |
W483* |
probably null |
Het |
| Rnd1 |
A |
T |
15: 98,571,782 (GRCm39) |
V88E |
probably damaging |
Het |
| Sbno2 |
T |
A |
10: 79,905,409 (GRCm39) |
T142S |
unknown |
Het |
| Scn9a |
C |
T |
2: 66,377,531 (GRCm39) |
V384M |
possibly damaging |
Het |
| Sertad4 |
T |
A |
1: 192,529,018 (GRCm39) |
H266L |
possibly damaging |
Het |
| Setd5 |
T |
A |
6: 113,092,043 (GRCm39) |
M288K |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,845,799 (GRCm39) |
N66Y |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,600 (GRCm39) |
Y10H |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,425 (GRCm39) |
N78I |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,480,748 (GRCm39) |
G200V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,795,116 (GRCm39) |
I477T |
unknown |
Het |
| Supv3l1 |
C |
T |
10: 62,266,249 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,062,337 (GRCm39) |
R4220G |
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,635,161 (GRCm39) |
H37L |
possibly damaging |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Tmem231 |
G |
T |
8: 112,645,040 (GRCm39) |
S155R |
probably damaging |
Het |
| Trem3 |
A |
G |
17: 48,565,498 (GRCm39) |
*184W |
probably null |
Het |
| Trim33 |
T |
A |
3: 103,253,956 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,943 (GRCm39) |
W233* |
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,774,605 (GRCm39) |
N286K |
probably damaging |
Het |
| Tulp4 |
A |
T |
17: 6,248,983 (GRCm39) |
M194L |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,553,345 (GRCm39) |
R906S |
possibly damaging |
Het |
| Ube3b |
A |
C |
5: 114,556,687 (GRCm39) |
D1006A |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,288,705 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,423,824 (GRCm39) |
I2692L |
unknown |
Het |
| Zfp142 |
C |
A |
1: 74,624,679 (GRCm39) |
E48D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,504 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,064 (GRCm39) |
N336S |
probably benign |
Het |
| Zfyve27 |
A |
T |
19: 42,177,959 (GRCm39) |
|
probably null |
Het |
| Zp3 |
T |
C |
5: 136,011,559 (GRCm39) |
S126P |
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 |
|
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'- TCCTAAGAACTGTTGAAAGCCAGAC -3'
(R):5'- TTGAAAAGGCTGTCAAGACGTG -3'
Sequencing Primer
(F):5'- TGTTGAAAGCCAGACAGCCAC -3'
(R):5'- TCAAGACGTGACAGCCAAAGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation