Mutagenetix > Incidental Mutation

Incidental Mutation 'R6080:Abcc4'

482897

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

044239-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6080 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118720104-118943631 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118906462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 44 (M44I)

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: M44I

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: M44I

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

possibly damaging
Transcript: ENSMUST00000166646
AA Change: M44I

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: M44I

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: 99.9%
3x: 99.6%
10x: 98.2%
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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1b	C	A	10: 90,802,211 (GRCm39)	S1209*	probably null	Het
Atp9b	A	G	18: 80,782,023 (GRCm39)	V1039A	probably benign	Het
Bltp3a	T	C	17: 28,099,271 (GRCm39)	S278P	probably benign	Het
Cep44	T	C	8: 56,992,876 (GRCm39)	K246R	possibly damaging	Het
Cfap54	A	T	10: 92,881,197 (GRCm39)	D330E	possibly damaging	Het
Dnah10	A	T	5: 124,882,961 (GRCm39)	M2940L	possibly damaging	Het
Gm14326	T	A	2: 177,578,339 (GRCm39)	T68S	probably benign	Het
Gm4922	A	C	10: 18,660,500 (GRCm39)	I74S	probably damaging	Het
Ints14	G	A	9: 64,874,044 (GRCm39)	V99I	probably benign	Het
Lrp4	T	C	2: 91,332,345 (GRCm39)	S1681P	probably benign	Het
Lrp5	T	C	19: 3,678,316 (GRCm39)	E513G	probably benign	Het
Myh14	T	A	7: 44,305,035 (GRCm39)	N252I	probably damaging	Het
Naga	A	G	15: 82,219,048 (GRCm39)	V233A	probably benign	Het
Npc1	C	T	18: 12,352,408 (GRCm39)	C97Y	probably damaging	Het
Or4f15	T	G	2: 111,814,050 (GRCm39)	Y123S	probably damaging	Het
Or52n4	T	C	7: 104,294,517 (GRCm39)	I19V	probably benign	Het
Or56a3b	T	C	7: 104,771,116 (GRCm39)	F151L	probably benign	Het
Or9i2	C	A	19: 13,816,464 (GRCm39)	L24F	possibly damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Plag1	T	C	4: 3,903,815 (GRCm39)	T459A	probably benign	Het
Rnase9	T	C	14: 51,276,727 (GRCm39)	T84A	probably benign	Het
Rps6kb2	T	A	19: 4,208,671 (GRCm39)	I282F	probably benign	Het
Smg5	A	G	3: 88,258,816 (GRCm39)	T596A	probably benign	Het
Ugcg	T	C	4: 59,218,524 (GRCm39)	V256A	possibly damaging	Het
Vgll4	T	C	6: 114,898,299 (GRCm39)	I21V	probably benign	Het
Vipas39	T	A	12: 87,288,727 (GRCm39)	H426L	probably damaging	Het
Vmn1r224	A	G	17: 20,639,818 (GRCm39)	T132A	possibly damaging	Het
Zc3h18	A	G	8: 123,143,283 (GRCm39)		probably benign	Het
Zfp606	T	A	7: 12,228,043 (GRCm39)	N663K	probably damaging	Het
Zfp819	A	G	7: 43,266,120 (GRCm39)	H201R	probably benign	Het
Zfp946	T	A	17: 22,674,090 (GRCm39)	H281Q	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
R6008:Abcc4	UTSW	14	118,727,978 (GRCm39)	missense	possibly damaging	0.63
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'- AACGTGGGGACATTAAAGCTCC -3'
(R):5'- AGCCGGTTGTATGAACGAG -3'

Sequencing Primer
(F):5'- TGGGGACATTAAAGCTCCAGACAG -3'
(R):5'- GTTGTATGAACGAGCACAGACTTAAC -3'

Posted On

2017-07-14