Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Abcb6'

345834

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 6

Synonyms

1200005B17Rik

MMRRC Submission

041816-MU

Accession Numbers

Genbank: NM_023732.2; Ensembl: ENSMUST00000027396, ENSMUST00000161215

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R4604 (G1)

Quality Score

190

Status

Not validated

Chromosome

Chromosomal Location

75171717-75180392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75179877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 81 (T81I)

Ref Sequence

ENSEMBL: ENSMUSP00000027396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027396] [ENSMUST00000040689] [ENSMUST00000188347] [ENSMUST00000189665] [ENSMUST00000189702]

AlphaFold

Q9DC29

Predicted Effect

probably benign
Transcript: ENSMUST00000027396
AA Change: T81I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: T81I

Domain	Start	End	E-Value	Type
Pfam:MTABC_N	6	255	7.8e-80	PFAM
Pfam:ABC_membrane	265	544	3.7e-34	PFAM
AAA	615	816	1.29e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040689

SMART Domains

Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	173	530	3.4e-134	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

probably benign
Transcript: ENSMUST00000187785

Predicted Effect

probably benign
Transcript: ENSMUST00000188347

SMART Domains

Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189665

SMART Domains

Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189702

SMART Domains

Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,857,154		probably benign	Het
Acp6	A	G	3: 97,175,759	K362R	probably benign	Het
Adam26a	A	G	8: 43,570,051	M134T	probably benign	Het
Ankrd27	C	T	7: 35,628,490	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atp2a1	G	A	7: 126,448,623	R672C	probably damaging	Het
Atxn2	G	T	5: 121,781,343	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,836,426		probably null	Het
Btnl6	T	A	17: 34,508,461	D365V	possibly damaging	Het
Ccdc80	T	A	16: 45,095,565	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,194	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,368	K775E	probably benign	Het
Cdh23	T	G	10: 60,337,666	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,815,922	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,443,661	T124K	probably benign	Het
Ckap5	A	T	2: 91,578,131	E890D	probably benign	Het
Col22a1	G	T	15: 71,952,339	P569T	probably benign	Het
Colq	A	T	14: 31,545,103	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,756,962		probably null	Het
Csmd3	A	T	15: 48,004,815	S770T	possibly damaging	Het
Cul9	C	A	17: 46,530,146	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,031,386	D256G	possibly damaging	Het
D17Wsu92e	T	C	17: 27,820,315	D7G	probably damaging	Het
Dclk3	A	T	9: 111,469,185	D599V	probably damaging	Het
Defb26	T	A	2: 152,508,184	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,129,660	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,504,664		probably null	Het
Dock6	A	G	9: 21,802,540	L1867P	probably damaging	Het
Dock9	G	T	14: 121,668,459	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995	H1344R	probably benign	Het
Enam	A	C	5: 88,504,283	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,158,922	D91E	possibly damaging	Het
Fbxo7	T	G	10: 86,046,802	W393G	probably damaging	Het
Gab2	A	G	7: 97,304,213	T599A	probably damaging	Het
Gfy	T	A	7: 45,177,188	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,857,508		probably null	Het
Gm4787	A	G	12: 81,379,213	M57T	probably benign	Het
Gper1	A	G	5: 139,426,725	E275G	probably damaging	Het
Grik4	T	C	9: 42,524,586	E803G	probably damaging	Het
Gstm3	G	A	3: 107,968,197	P39L	possibly damaging	Het
Hax1	A	T	3: 89,997,460	V142D	probably damaging	Het
Hcn3	A	T	3: 89,150,440	I383N	probably damaging	Het
Hdac10	C	A	15: 89,125,397		probably null	Het
Hipk3	A	C	2: 104,439,329	M505R	probably damaging	Het
Hivep1	C	T	13: 42,159,749	P1822S	probably benign	Het
Hsd17b13	G	T	5: 103,956,258	H281N	unknown	Het
Irak2	T	A	6: 113,672,887	I222N	probably damaging	Het
Kalrn	G	A	16: 34,513,926	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,309,038		probably null	Het
Kcnn3	G	T	3: 89,520,420		probably benign	Het
Lamb1	A	C	12: 31,278,776	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,244,144	N195Y	probably damaging	Het
Ltf	A	T	9: 111,022,341	N72I	probably damaging	Het
Mcm4	A	G	16: 15,629,663	I479T	probably damaging	Het
Mfhas1	T	C	8: 35,588,610	S80P	probably benign	Het
Mknk1	A	G	4: 115,878,027	E364G	probably damaging	Het
Msh4	C	T	3: 153,872,283	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,564,512		probably null	Het
Myo1a	T	C	10: 127,711,138	W356R	probably damaging	Het
Nbea	A	G	3: 55,723,648	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,451,012	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,531,410	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,770,164	R261W	probably damaging	Het
Npy2r	A	G	3: 82,541,058	S137P	probably damaging	Het
Obscn	C	T	11: 59,080,205	G2494D	probably damaging	Het
Obscn	T	C	11: 59,122,746	K1092E	probably damaging	Het
Olfr1019	C	T	2: 85,841,182	C203Y	probably damaging	Het
Oosp2	A	C	19: 11,649,683	I92S	probably benign	Het
Pcdh9	T	C	14: 93,887,180	D518G	probably damaging	Het
Pde11a	G	T	2: 76,337,793	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,059,835	Q162L	probably null	Het
Prkag2	T	A	5: 24,878,734	I84F	probably damaging	Het
Prm2	G	T	16: 10,791,749		probably benign	Het
Prpf40a	A	T	2: 53,142,023	C800S	probably damaging	Het
Prr5l	A	T	2: 101,729,448	C158S	probably benign	Het
Prrt3	C	A	6: 113,498,237	C8F	possibly damaging	Het
Psg25	T	C	7: 18,529,803	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,485,905	V337A	probably benign	Het
Sall1	T	A	8: 89,030,341	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,695,642	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,267,777	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,152,074		probably benign	Het
Slc12a8	T	A	16: 33,608,159	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,489,907	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,459,771	F222S	probably benign	Het
Sorcs3	A	T	19: 48,693,914	T463S	probably benign	Het
Spsb4	C	A	9: 96,995,878	A131S	probably benign	Het
Syne2	A	G	12: 75,967,710	E3225G	probably damaging	Het
Tchp	G	A	5: 114,719,573		probably null	Het
Tekt4	T	A	17: 25,471,775	D18E	probably benign	Het
Timm50	A	G	7: 28,311,018	V37A	probably benign	Het
Tlx2	A	C	6: 83,068,760	*285G	probably null	Het
Tmem173	T	A	18: 35,738,690	I170F	probably damaging	Het
Tshz1	C	A	18: 84,013,374	D970Y	probably damaging	Het
Ttn	A	T	2: 76,870,461	V50E	probably damaging	Het
Txndc17	T	A	11: 72,209,448	S113T	probably benign	Het
Tyk2	T	C	9: 21,108,009	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 104,142,491	S131P	probably benign	Het
Uncx	A	T	5: 139,544,082	H30L	possibly damaging	Het
Usp25	T	A	16: 77,115,415	D1007E	probably damaging	Het
Usp47	T	C	7: 112,101,831	V1083A	probably damaging	Het
Wdr24	T	A	17: 25,828,505	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,802,347	D37G	probably damaging	Het
Xpo6	T	C	7: 126,113,752	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,812,211	R412C	probably damaging	Het
Znrf2	T	A	6: 54,878,440	C71*	probably null	Het

Other mutations in Abcb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02836:Abcb6	APN	1	75178002	missense	probably damaging	0.96
1mM(1):Abcb6	UTSW	1	75172111	unclassified	probably benign
R0035:Abcb6	UTSW	1	75175007	missense	possibly damaging	0.74
R0699:Abcb6	UTSW	1	75171909	missense	probably damaging	0.98
R1470:Abcb6	UTSW	1	75172679	unclassified	probably benign
R1595:Abcb6	UTSW	1	75177300	splice site	probably null
R1912:Abcb6	UTSW	1	75179955	missense	probably benign
R2078:Abcb6	UTSW	1	75172136	missense	probably damaging	1.00
R3105:Abcb6	UTSW	1	75175043	unclassified	probably benign
R4015:Abcb6	UTSW	1	75174491	splice site	probably null
R4633:Abcb6	UTSW	1	75177782	unclassified	probably benign
R4748:Abcb6	UTSW	1	75177358	missense	probably damaging	1.00
R5530:Abcb6	UTSW	1	75177912	unclassified	probably benign
R5654:Abcb6	UTSW	1	75174835	splice site	probably null
R5841:Abcb6	UTSW	1	75174350	missense	possibly damaging	0.88
R6275:Abcb6	UTSW	1	75172551	splice site	probably null
R6527:Abcb6	UTSW	1	75177488	critical splice acceptor site	probably null
R7188:Abcb6	UTSW	1	75174137	critical splice donor site	probably null
R7278:Abcb6	UTSW	1	75174373	missense	possibly damaging	0.88
R7451:Abcb6	UTSW	1	75172153	missense	probably damaging	1.00
R7481:Abcb6	UTSW	1	75173604	missense	probably damaging	1.00
R7608:Abcb6	UTSW	1	75177703	missense	probably benign	0.01
R7640:Abcb6	UTSW	1	75174845	splice site	probably null
R7883:Abcb6	UTSW	1	75178016	missense	possibly damaging	0.81
R7982:Abcb6	UTSW	1	75173640	missense	probably damaging	1.00
R8057:Abcb6	UTSW	1	75174358	missense	probably damaging	0.99
R8058:Abcb6	UTSW	1	75180009	missense	possibly damaging	0.79
R8155:Abcb6	UTSW	1	75174769	missense	probably damaging	0.99
R8309:Abcb6	UTSW	1	75172944	missense	probably benign	0.43
R9087:Abcb6	UTSW	1	75173567	missense	probably damaging	1.00
R9599:Abcb6	UTSW	1	75174728	missense	possibly damaging	0.63
R9723:Abcb6	UTSW	1	75179722	missense	probably benign
X0009:Abcb6	UTSW	1	75174553	missense	probably benign	0.35
Z1177:Abcb6	UTSW	1	75176125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCCAAGCTATGCCTGAAC -3'
(R):5'- GCTTGGACTCAGAATGGCTTG -3'

Sequencing Primer
(F):5'- TATGCCTGAACTTCATCCAGACG -3'
(R):5'- ACTCAGAATGGCTTGAGTCC -3'

Posted On

2015-09-25