Mutagenetix > Incidental Mutation

Incidental Mutation 'R0699:Abcb6'

218728

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B member 6

Synonyms

1200005B17Rik

MMRRC Submission

038883-MU

Accession Numbers

Essential gene?

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

Stock #

R0699 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

75148361-75157036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75148553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 89 (E89K)

Ref Sequence

ENSEMBL: ENSMUSP00000124630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000161215] [ENSMUST00000162768]

AlphaFold

Q9DC29

Predicted Effect

probably benign
Transcript: ENSMUST00000027394

SMART Domains

Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027396
AA Change: E834K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: E834K

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

noncoding transcript
Transcript: ENSMUST00000159219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160282

Predicted Effect

probably benign
Transcript: ENSMUST00000160439

SMART Domains

Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161215
AA Change: E89K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198
AA Change: E89K

Domain	Start	End	E-Value	Type
SCOP:d1jj7a_	5	78	8e-23	SMART
Blast:AAA	23	71	9e-25	BLAST
PDB:3NHB\|A	23	94	3e-36	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160757

Predicted Effect

probably benign
Transcript: ENSMUST00000186227

Predicted Effect

probably benign
Transcript: ENSMUST00000162768

SMART Domains

Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART

Meta Mutation Damage Score

0.0769

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (120/123)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,538,508 (GRCm39)		probably benign	Het
Adam25	C	A	8: 41,209,011 (GRCm39)	T759K	probably benign	Het
Adgrf5	G	A	17: 43,733,552 (GRCm39)		probably null	Het
Aimp1	A	T	3: 132,380,626 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,153,148 (GRCm39)	V193I	probably benign	Het
Ank2	C	T	3: 126,723,478 (GRCm39)	V950I	probably benign	Het
Aspn	A	G	13: 49,705,258 (GRCm39)	D40G	possibly damaging	Het
C1rl	A	G	6: 124,485,595 (GRCm39)	D322G	probably benign	Het
Car5a	T	C	8: 122,671,555 (GRCm39)		probably benign	Het
Cfap107	G	T	4: 144,146,322 (GRCm39)	N110K	probably damaging	Het
Cfap157	T	A	2: 32,669,022 (GRCm39)	K360N	probably damaging	Het
Cilp	T	A	9: 65,177,608 (GRCm39)	F117Y	probably damaging	Het
Cntnap5c	T	G	17: 58,349,493 (GRCm39)	W269G	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Commd3	A	G	2: 18,679,786 (GRCm39)	E165G	possibly damaging	Het
Cops3	A	C	11: 59,717,148 (GRCm39)	Y244D	probably damaging	Het
Cpne5	T	A	17: 29,428,667 (GRCm39)	K108N	probably damaging	Het
Cracdl	T	C	1: 37,651,411 (GRCm39)	D1152G	possibly damaging	Het
Ddx41	A	G	13: 55,679,112 (GRCm39)		probably benign	Het
Dnhd1	T	C	7: 105,301,113 (GRCm39)	Y157H	probably damaging	Het
Dpp8	A	T	9: 64,962,176 (GRCm39)	L405F	probably benign	Het
Dync2h1	G	T	9: 7,103,680 (GRCm39)	A365E	probably benign	Het
Dysf	C	T	6: 84,167,828 (GRCm39)	R1757W	probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Eif2ak3	T	C	6: 70,869,514 (GRCm39)	F734L	probably benign	Het
F8	T	C	X: 74,423,230 (GRCm39)		probably benign	Het
Fbxl14	T	C	6: 119,457,715 (GRCm39)	Y299H	probably benign	Het
Fmo1	T	C	1: 162,661,341 (GRCm39)	N314S	probably benign	Het
Fnip2	T	C	3: 79,388,446 (GRCm39)	T762A	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Gm9932	T	C	5: 100,346,931 (GRCm39)	V43A	probably damaging	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Hmcn1	T	C	1: 150,695,161 (GRCm39)	T248A	probably damaging	Het
Hook1	T	A	4: 95,884,077 (GRCm39)		probably benign	Het
Ifne	T	C	4: 88,798,014 (GRCm39)	S135G	probably benign	Het
Igkv13-84	G	A	6: 68,916,635 (GRCm39)		probably benign	Het
Itm2b	T	A	14: 73,602,065 (GRCm39)	N211I	probably damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	A	T	13: 46,952,689 (GRCm39)	W699R	possibly damaging	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Macrod2	T	C	2: 140,260,836 (GRCm39)		probably null	Het
Map3k6	A	G	4: 132,975,437 (GRCm39)	E724G	probably damaging	Het
Mgam	T	C	6: 40,619,953 (GRCm39)	L14P	possibly damaging	Het
Morc1	T	A	16: 48,412,977 (GRCm39)	M706K	probably benign	Het
Muc2	T	C	7: 141,306,037 (GRCm39)	V242A	probably damaging	Het
Mx2	T	A	16: 97,345,753 (GRCm39)	V57E	probably damaging	Het
Myh14	C	A	7: 44,274,395 (GRCm39)	A1339S	possibly damaging	Het
Myom1	G	T	17: 71,374,308 (GRCm39)	S595I	probably damaging	Het
Nav1	T	A	1: 135,380,687 (GRCm39)	M1471L	probably benign	Het
Ncapd2	A	C	6: 125,146,843 (GRCm39)	S1248A	probably benign	Het
Ncbp1	T	C	4: 46,147,528 (GRCm39)	V125A	probably benign	Het
Ncor2	A	T	5: 125,106,176 (GRCm39)		probably benign	Het
Nobox	T	A	6: 43,284,144 (GRCm39)	Q134L	probably benign	Het
Npc1	T	C	18: 12,343,632 (GRCm39)	T454A	probably benign	Het
Ntng1	G	T	3: 109,779,611 (GRCm39)	T322K	probably damaging	Het
Olfm5	T	C	7: 103,803,326 (GRCm39)	E379G	probably damaging	Het
Oma1	T	C	4: 103,210,792 (GRCm39)	S433P	probably damaging	Het
Or1ad6	T	C	11: 50,860,645 (GRCm39)	S267P	probably damaging	Het
Or1b1	T	C	2: 36,995,074 (GRCm39)	D196G	possibly damaging	Het
Or4c105	A	T	2: 88,647,568 (GRCm39)	N18Y	probably damaging	Het
Or4c107	C	T	2: 88,788,960 (GRCm39)	T50I	probably benign	Het
Or4c113	C	T	2: 88,885,636 (GRCm39)	V45M	possibly damaging	Het
Parp14	G	A	16: 35,680,955 (GRCm39)	T226M	probably damaging	Het
Parp8	A	T	13: 117,059,120 (GRCm39)	H168Q	probably benign	Het
Pik3cg	G	A	12: 32,247,341 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,442,000 (GRCm39)	F388S	probably damaging	Het
Plaat3	T	A	19: 7,535,366 (GRCm39)		probably null	Het
Pllp	T	C	8: 95,422,660 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,927,720 (GRCm39)	V778E	probably damaging	Het
Prkci	T	C	3: 31,104,422 (GRCm39)	V595A	possibly damaging	Het
Prune2	T	A	19: 17,101,319 (GRCm39)	D2274E	probably damaging	Het
Rad51ap2	A	T	12: 11,507,601 (GRCm39)	T508S	probably benign	Het
Ranbp3l	T	C	15: 9,058,850 (GRCm39)		probably null	Het
Rfc1	A	C	5: 65,476,742 (GRCm39)		probably null	Het
Rin3	G	A	12: 102,335,834 (GRCm39)	V502I	probably damaging	Het
Rtn4rl1	A	T	11: 75,156,048 (GRCm39)	H160L	possibly damaging	Het
Rtn4rl1	A	T	11: 75,156,050 (GRCm39)	I161F	probably benign	Het
Serpinb9b	A	T	13: 33,217,549 (GRCm39)	M116L	probably benign	Het
Sgo2a	C	T	1: 58,037,308 (GRCm39)	R18*	probably null	Het
Sh3gl2	T	A	4: 85,265,408 (GRCm39)	D31E	probably benign	Het
Slc38a9	T	C	13: 112,859,823 (GRCm39)	L419S	probably damaging	Het
Sp8	AGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGG	12: 118,812,555 (GRCm39)		probably benign	Het
Spen	G	T	4: 141,201,702 (GRCm39)	N2308K	possibly damaging	Het
Stac2	A	G	11: 97,933,611 (GRCm39)	I156T	possibly damaging	Het
Stambp	A	G	6: 83,533,303 (GRCm39)	F320S	probably damaging	Het
Tas2r117	A	T	6: 132,780,161 (GRCm39)	N100Y	probably damaging	Het
Tigd3	A	T	19: 5,941,974 (GRCm39)	S385R	probably benign	Het
Tmem30c	T	C	16: 57,097,152 (GRCm39)	D136G	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnrc6c	A	G	11: 117,613,447 (GRCm39)	Q535R	probably benign	Het
Trmt2a	T	C	16: 18,067,393 (GRCm39)	V22A	probably benign	Het
Tut7	G	A	13: 59,929,828 (GRCm39)		probably benign	Het
Wipf3	A	C	6: 54,460,817 (GRCm39)	K88N	probably damaging	Het
Zfp974	T	C	7: 27,611,416 (GRCm39)	E103G	possibly damaging	Het
Zscan10	C	T	17: 23,827,092 (GRCm39)	T135I	probably damaging	Het

Other mutations in Abcb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02836:Abcb6	APN	1	75,154,646 (GRCm39)	missense	probably damaging	0.96
1mM(1):Abcb6	UTSW	1	75,148,755 (GRCm39)	unclassified	probably benign
R0035:Abcb6	UTSW	1	75,151,651 (GRCm39)	missense	possibly damaging	0.74
R1470:Abcb6	UTSW	1	75,149,323 (GRCm39)	unclassified	probably benign
R1595:Abcb6	UTSW	1	75,153,944 (GRCm39)	splice site	probably null
R1912:Abcb6	UTSW	1	75,156,599 (GRCm39)	missense	probably benign
R2078:Abcb6	UTSW	1	75,148,780 (GRCm39)	missense	probably damaging	1.00
R3105:Abcb6	UTSW	1	75,151,687 (GRCm39)	unclassified	probably benign
R4015:Abcb6	UTSW	1	75,151,135 (GRCm39)	splice site	probably null
R4604:Abcb6	UTSW	1	75,156,521 (GRCm39)	missense	probably benign
R4633:Abcb6	UTSW	1	75,154,426 (GRCm39)	unclassified	probably benign
R4748:Abcb6	UTSW	1	75,154,002 (GRCm39)	missense	probably damaging	1.00
R5530:Abcb6	UTSW	1	75,154,556 (GRCm39)	unclassified	probably benign
R5654:Abcb6	UTSW	1	75,151,479 (GRCm39)	splice site	probably null
R5841:Abcb6	UTSW	1	75,150,994 (GRCm39)	missense	possibly damaging	0.88
R6275:Abcb6	UTSW	1	75,149,195 (GRCm39)	splice site	probably null
R6527:Abcb6	UTSW	1	75,154,132 (GRCm39)	critical splice acceptor site	probably null
R7188:Abcb6	UTSW	1	75,150,781 (GRCm39)	critical splice donor site	probably null
R7278:Abcb6	UTSW	1	75,151,017 (GRCm39)	missense	possibly damaging	0.88
R7451:Abcb6	UTSW	1	75,148,797 (GRCm39)	missense	probably damaging	1.00
R7481:Abcb6	UTSW	1	75,150,248 (GRCm39)	missense	probably damaging	1.00
R7608:Abcb6	UTSW	1	75,154,347 (GRCm39)	missense	probably benign	0.01
R7640:Abcb6	UTSW	1	75,151,489 (GRCm39)	splice site	probably null
R7883:Abcb6	UTSW	1	75,154,660 (GRCm39)	missense	possibly damaging	0.81
R7982:Abcb6	UTSW	1	75,150,284 (GRCm39)	missense	probably damaging	1.00
R8057:Abcb6	UTSW	1	75,151,002 (GRCm39)	missense	probably damaging	0.99
R8058:Abcb6	UTSW	1	75,156,653 (GRCm39)	missense	possibly damaging	0.79
R8155:Abcb6	UTSW	1	75,151,413 (GRCm39)	missense	probably damaging	0.99
R8309:Abcb6	UTSW	1	75,149,588 (GRCm39)	missense	probably benign	0.43
R9087:Abcb6	UTSW	1	75,150,211 (GRCm39)	missense	probably damaging	1.00
R9599:Abcb6	UTSW	1	75,151,372 (GRCm39)	missense	possibly damaging	0.63
R9723:Abcb6	UTSW	1	75,156,366 (GRCm39)	missense	probably benign
X0009:Abcb6	UTSW	1	75,151,197 (GRCm39)	missense	probably benign	0.35
Z1177:Abcb6	UTSW	1	75,152,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGCAGGCCATTTATTTCCTCACG -3'
(R):5'- CCATCGTCATAGCACACAGGTACAG -3'

Sequencing Primer
(F):5'- ATTTCCTCACGATGCTTTCTGG -3'
(R):5'- TCATCAAGGACGGTTGCATC -3'

Posted On

2014-08-20