Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Abcb6'

628326

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B member 6

Synonyms

1200005B17Rik

MMRRC Submission

045698-MU

Accession Numbers

Essential gene?

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

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75148361-75157036 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 75151489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027396 (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 null
Transcript: ENSMUST00000027396

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198

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: 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 benign
Transcript: ENSMUST00000161215

SMART Domains

Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186227

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,181,905 (GRCm39)	N20I	probably damaging	Het
4930558K02Rik	A	G	1: 161,784,718 (GRCm39)	S74P	probably benign	Het
Adamts14	C	A	10: 61,081,836 (GRCm39)	A234S	probably benign	Het
Ankrd42	A	G	7: 92,268,843 (GRCm39)	S167P	probably benign	Het
Ap3m1	T	C	14: 21,088,243 (GRCm39)	I272V	probably benign	Het
Armt1	T	C	10: 4,403,572 (GRCm39)	F219S	probably damaging	Het
Atr	T	G	9: 95,789,346 (GRCm39)		probably null	Het
Cep72	G	A	13: 74,206,607 (GRCm39)	Q72*	probably null	Het
Clock	G	T	5: 76,396,225 (GRCm39)	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,898,974 (GRCm39)	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Cuta	C	T	17: 27,157,396 (GRCm39)	V135I	probably benign	Het
Ddx41	A	T	13: 55,682,052 (GRCm39)	M241K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,995 (GRCm39)	N60S	probably damaging	Het
Drc3	A	G	11: 60,279,730 (GRCm39)	M432V	probably benign	Het
Dync2i2	T	G	2: 29,921,780 (GRCm39)	D527A	probably benign	Het
Eef1d	C	A	15: 75,774,556 (GRCm39)	G368C	probably damaging	Het
En2	A	T	5: 28,375,164 (GRCm39)	K236*	probably null	Het
Fas	A	G	19: 34,284,564 (GRCm39)	T24A	possibly damaging	Het
Golga2	T	C	2: 32,196,251 (GRCm39)	V930A	probably benign	Het
Gprin2	G	T	14: 33,917,710 (GRCm39)	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,140,064 (GRCm39)	C115*	probably null	Het
Impdh2	T	C	9: 108,442,380 (GRCm39)	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,271,463 (GRCm39)	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,768,131 (GRCm39)	Y122*	probably null	Het
Lamc2	A	T	1: 153,012,550 (GRCm39)	I708N	possibly damaging	Het
Large2	T	C	2: 92,205,050 (GRCm39)	M1V	probably null	Het
Lrit2	T	C	14: 36,794,081 (GRCm39)	W382R	probably damaging	Het
Mcee	T	A	7: 64,061,716 (GRCm39)	V173E	probably damaging	Het
Mcph1	T	A	8: 18,682,342 (GRCm39)	V493E	probably benign	Het
Mfap4	A	G	11: 61,377,913 (GRCm39)	N118D	probably damaging	Het
Mknk2	T	C	10: 80,504,400 (GRCm39)	S301G	probably benign	Het
Mlf1	G	A	3: 67,300,266 (GRCm39)	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,223,121 (GRCm39)	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 47,818,007 (GRCm39)	I243L	probably benign	Het
Muc4	C	A	16: 32,580,479 (GRCm39)	P360T		Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Nscme3l	T	A	19: 5,553,035 (GRCm39)	S249C	probably damaging	Het
Nts	T	C	10: 102,326,165 (GRCm39)	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,959,479 (GRCm39)	L288P	probably damaging	Het
Or4a66	T	A	2: 88,531,230 (GRCm39)	I148L	probably benign	Het
Or51k2	A	T	7: 103,596,150 (GRCm39)	I126F	probably damaging	Het
Or5w11	A	G	2: 87,459,436 (GRCm39)	I94V	probably benign	Het
Or8k30	A	G	2: 86,339,287 (GRCm39)	I161M	possibly damaging	Het
Otoa	A	G	7: 120,744,849 (GRCm39)	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,277,578 (GRCm39)	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,918,204 (GRCm39)	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,117,956 (GRCm39)	A8T	probably benign	Het
Pramel24	T	C	4: 143,453,276 (GRCm39)	V128A	probably benign	Het
Rc3h2	A	G	2: 37,267,861 (GRCm39)		probably null	Het
Rlf	T	A	4: 121,003,998 (GRCm39)	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,594,891 (GRCm39)	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527 (GRCm39)	D22V	probably benign	Het
Sema3f	A	T	9: 107,560,774 (GRCm39)	S644R	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31h1	T	A	10: 82,130,490 (GRCm39)	N840I	probably damaging	Het
Specc1l	T	A	10: 75,093,703 (GRCm39)	N717K	probably damaging	Het
Sphkap	C	T	1: 83,256,649 (GRCm39)	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,268,544 (GRCm39)	V272M	probably damaging	Het
Tlcd4	A	G	3: 121,028,690 (GRCm39)		probably null	Het
Tmem132c	A	G	5: 127,640,070 (GRCm39)	D747G	probably damaging	Het
Trim2	C	A	3: 84,098,213 (GRCm39)	V372F	probably benign	Het
Ttc34	A	G	4: 154,945,841 (GRCm39)	T292A	probably benign	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Zfhx4	T	C	3: 5,477,540 (GRCm39)	I3385T	probably benign	Het
Zfp423	T	C	8: 88,507,905 (GRCm39)	K813R	probably damaging	Het
Zfp850	T	C	7: 27,688,634 (GRCm39)	T525A	probably benign	Het
Zfp873	T	C	10: 81,896,109 (GRCm39)	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,725,121 (GRCm39)	T697A	possibly 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
R0699:Abcb6	UTSW	1	75,148,553 (GRCm39)	missense	probably damaging	0.98
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
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'- TTTACAAGCCATCCAGGAGCC -3'
(R):5'- GGGTTATGAAGTAGACCGCTATCG -3'

Sequencing Primer
(F):5'- AGTGGCTCGCTCATGACC -3'
(R):5'- TAGACCGCTATCGAGAGGC -3'

Posted On

2020-03-06