Mutagenetix > Incidental Mutation

Incidental Mutation 'R9535:Abcc6'

719650

Institutional Source

Beutler Lab

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C member 6

Synonyms

DCC, Mrp6, Dyscalc1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R9535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45625804-45679915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45626687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1457 (S1457P)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850]

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: S1457P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: S1457P

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	81	100	N/A	INTRINSIC
transmembrane domain	110	129	N/A	INTRINSIC
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC
Pfam:ABC_membrane	309	580	3.5e-29	PFAM
AAA	653	828	1.19e-9	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:ABC_membrane	942	1211	2.5e-32	PFAM
AAA	1286	1473	1.71e-10	SMART

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: 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. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	A	17: 65,141,326 (GRCm39)	R65S	unknown	Het
Alad	T	C	4: 62,428,777 (GRCm39)	D259G	probably damaging	Het
Atmin	A	G	8: 117,683,327 (GRCm39)	D329G	probably damaging	Het
Ccdc121	A	G	5: 31,644,954 (GRCm39)	I236V	probably benign	Het
Cdkal1	A	G	13: 30,034,007 (GRCm39)	F29L	probably benign	Het
Chrng	C	T	1: 87,139,202 (GRCm39)	P518S	probably benign	Het
Cpa1	G	T	6: 30,641,847 (GRCm39)	D224Y	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dennd5b	T	C	6: 148,895,365 (GRCm39)	I1222V	probably benign	Het
Dnm1	A	T	2: 32,202,344 (GRCm39)	S773T	probably benign	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Il18rap	T	A	1: 40,586,990 (GRCm39)	V424E	probably benign	Het
Kdm6b	C	A	11: 69,297,276 (GRCm39)	G359*	probably null	Het
Krt84	A	G	15: 101,438,016 (GRCm39)		probably null	Het
Lig4	C	A	8: 10,022,325 (GRCm39)	C485F	probably damaging	Het
Mpo	T	A	11: 87,690,794 (GRCm39)	W411R	probably damaging	Het
Mpv17l	A	G	16: 13,759,149 (GRCm39)	E8G	probably benign	Het
Mrps34	T	C	17: 25,114,451 (GRCm39)	Y104H	probably benign	Het
Muc15	T	A	2: 110,562,007 (GRCm39)	W148R	probably damaging	Het
Nrg1	T	C	8: 32,439,995 (GRCm39)	D134G	probably benign	Het
Prdm1	T	C	10: 44,317,608 (GRCm39)	Y405C	probably damaging	Het
Ptprb	T	C	10: 116,158,431 (GRCm39)	S501P	possibly damaging	Het
Pwp1	C	A	10: 85,723,958 (GRCm39)	S486R	possibly damaging	Het
Rtl1	T	C	12: 109,557,171 (GRCm39)	E1556G	probably damaging	Het
Rtl1	T	C	12: 109,561,698 (GRCm39)	Q47R	unknown	Het
Siglece	A	G	7: 43,307,055 (GRCm39)	F311L	probably benign	Het
Slc27a3	A	G	3: 90,293,618 (GRCm39)	L589P	probably damaging	Het
Spata31e2	A	C	1: 26,721,232 (GRCm39)	L1316*	probably null	Het
Synrg	T	A	11: 83,881,660 (GRCm39)	M332K	probably benign	Het
Tasor2	T	A	13: 3,623,559 (GRCm39)	R2130S	possibly damaging	Het
Tecta	T	A	9: 42,270,759 (GRCm39)	N1183I	probably damaging	Het
Tmed11	A	G	5: 108,926,915 (GRCm39)	I119T	possibly damaging	Het
Ttll3	C	T	6: 113,389,834 (GRCm39)	R740W	probably damaging	Het
Usp40	T	C	1: 87,935,161 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,418 (GRCm39)	H179Y	probably benign	Het
Wwtr1	T	C	3: 57,384,825 (GRCm39)	M298V	possibly damaging	Het
Xrcc4	T	A	13: 90,089,118 (GRCm39)	M280L	probably benign	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	45,652,096 (GRCm39)	splice site	probably benign
IGL01731:Abcc6	APN	7	45,652,034 (GRCm39)	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45,646,238 (GRCm39)	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45,639,705 (GRCm39)	splice site	probably benign
IGL01895:Abcc6	APN	7	45,678,482 (GRCm39)	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45,635,997 (GRCm39)	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45,626,840 (GRCm39)	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	45,650,485 (GRCm39)	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	45,654,686 (GRCm39)	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	45,665,856 (GRCm39)	missense	probably benign
IGL03092:Abcc6	APN	7	45,635,894 (GRCm39)	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45,631,661 (GRCm39)	unclassified	probably benign
R0057:Abcc6	UTSW	7	45,669,567 (GRCm39)	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	45,664,929 (GRCm39)	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	45,663,531 (GRCm39)	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45,634,677 (GRCm39)	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	45,665,928 (GRCm39)	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	45,654,668 (GRCm39)	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45,641,781 (GRCm39)	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	45,663,593 (GRCm39)	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R1909:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R2138:Abcc6	UTSW	7	45,630,475 (GRCm39)	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45,648,165 (GRCm39)	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	45,664,999 (GRCm39)	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45,644,713 (GRCm39)	missense	probably benign
R4013:Abcc6	UTSW	7	45,668,104 (GRCm39)	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45,648,256 (GRCm39)	splice site	probably benign
R4385:Abcc6	UTSW	7	45,644,752 (GRCm39)	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	45,652,031 (GRCm39)	missense	probably benign
R4479:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45,646,115 (GRCm39)	missense	probably benign
R4791:Abcc6	UTSW	7	45,631,584 (GRCm39)	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45,630,414 (GRCm39)	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45,639,111 (GRCm39)	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45,644,649 (GRCm39)	missense	probably benign
R4941:Abcc6	UTSW	7	45,661,947 (GRCm39)	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	45,669,578 (GRCm39)	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45,639,070 (GRCm39)	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45,630,483 (GRCm39)	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45,641,735 (GRCm39)	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45,631,607 (GRCm39)	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45,638,960 (GRCm39)	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	45,678,468 (GRCm39)	missense	probably benign
R6228:Abcc6	UTSW	7	45,679,680 (GRCm39)	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45,630,481 (GRCm39)	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	45,654,946 (GRCm39)	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	45,668,114 (GRCm39)	missense	probably benign
R7553:Abcc6	UTSW	7	45,648,545 (GRCm39)	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45,644,661 (GRCm39)	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45,626,816 (GRCm39)	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	45,655,030 (GRCm39)	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45,626,277 (GRCm39)	nonsense	probably null
R7896:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45,646,089 (GRCm39)	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45,629,449 (GRCm39)	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45,634,569 (GRCm39)	missense	probably benign
R8784:Abcc6	UTSW	7	45,652,025 (GRCm39)	missense	probably benign
R8802:Abcc6	UTSW	7	45,658,283 (GRCm39)	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45,648,431 (GRCm39)	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	45,665,820 (GRCm39)	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45,629,184 (GRCm39)	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	45,665,892 (GRCm39)	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45,629,197 (GRCm39)	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45,639,765 (GRCm39)	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45,629,359 (GRCm39)	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	45,669,660 (GRCm39)	nonsense	probably null
X0065:Abcc6	UTSW	7	45,669,621 (GRCm39)	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45,641,730 (GRCm39)	critical splice donor site	probably null
Z1176:Abcc6	UTSW	7	45,629,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCCCAAGCTGCTACCTG -3'
(R):5'- AGCTTATTCACAGCGTGGG -3'

Sequencing Primer
(F):5'- AACTTCCTGGATGCACGG -3'
(R):5'- CTTATTCACAGCGTGGGTCAGAAAC -3'

Posted On

2022-07-18