Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Abcb6'

571515

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B member 6

Synonyms

1200005B17Rik

MMRRC Submission

045360-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R7278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75148361-75157036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75151017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 558 (F558L)

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

possibly damaging
Transcript: ENSMUST00000027396
AA Change: F558L

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: F558L

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: 99.0%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,237 (GRCm39)	L142P	probably benign	Het
Abca13	A	T	11: 9,241,126 (GRCm39)	R996S	possibly damaging	Het
Acp7	T	A	7: 28,330,307 (GRCm39)	D2V	unknown	Het
Acvr1c	T	C	2: 58,174,948 (GRCm39)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,781,380 (GRCm39)	S1124P		Het
B4galnt1	A	T	10: 127,003,657 (GRCm39)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,271,445 (GRCm39)	T237N	probably benign	Het
C8b	T	C	4: 104,637,824 (GRCm39)	C99R	probably damaging	Het
Ccnk	C	A	12: 108,159,964 (GRCm39)	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,288,226 (GRCm39)	D47G	probably benign	Het
Chid1	A	T	7: 141,109,401 (GRCm39)		probably null	Het
Cibar2	T	A	8: 120,895,342 (GRCm39)	T187S	possibly damaging	Het
Cmya5	T	A	13: 93,232,208 (GRCm39)	E960V	probably damaging	Het
Col18a1	A	G	10: 76,932,118 (GRCm39)	S112P	unknown	Het
Cps1	G	A	1: 67,210,080 (GRCm39)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,058,697 (GRCm39)	L245*	probably null	Het
Ddr2	G	T	1: 169,812,530 (GRCm39)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Elavl4	C	T	4: 110,068,622 (GRCm39)		probably null	Het
Emilin1	T	C	5: 31,078,004 (GRCm39)	V921A	probably benign	Het
Evpl	T	A	11: 116,113,939 (GRCm39)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,782,790 (GRCm39)	G101E	probably benign	Het
Gemin4	T	C	11: 76,102,932 (GRCm39)	T610A	probably damaging	Het
Glis1	T	C	4: 107,292,880 (GRCm39)	M1T	probably null	Het
Gm14399	C	T	2: 174,972,252 (GRCm39)		probably benign	Het
Gorasp2	C	T	2: 70,509,849 (GRCm39)	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,341 (GRCm39)	V501A	possibly damaging	Het
Grik4	T	A	9: 42,533,356 (GRCm39)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,278,436 (GRCm39)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,545,247 (GRCm39)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,230,243 (GRCm39)	S356P	probably damaging	Het
Klk1b22	A	G	7: 43,764,173 (GRCm39)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,287,500 (GRCm39)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,316,696 (GRCm39)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,334,536 (GRCm39)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,851,487 (GRCm39)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,878,071 (GRCm39)	S170G	probably benign	Het
Muc5b	A	T	7: 141,411,239 (GRCm39)	D1395V	unknown	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Myh15	A	G	16: 48,911,468 (GRCm39)	D300G	probably damaging	Het
Naa80	T	C	9: 107,460,498 (GRCm39)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,231,952 (GRCm39)	T174A	probably benign	Het
Nek5	T	A	8: 22,580,500 (GRCm39)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,136,359 (GRCm39)	V400I	probably damaging	Het
Or1l4	T	C	2: 37,092,092 (GRCm39)	Y280H	probably damaging	Het
Or1l4b	G	T	2: 37,037,021 (GRCm39)	V266L	probably benign	Het
Or51aa2	A	T	7: 103,187,935 (GRCm39)	Y169N	probably benign	Het
Or52m1	T	C	7: 102,290,190 (GRCm39)	S246P	probably damaging	Het
Or6b1	G	A	6: 42,811,330 (GRCm39)		probably null	Het
Or6c5c	T	A	10: 129,298,620 (GRCm39)	I25N	probably damaging	Het
Parn	T	C	16: 13,443,927 (GRCm39)		probably null	Het
Pfkl	T	C	10: 77,827,857 (GRCm39)	T468A	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,768,340 (GRCm39)	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,187,317 (GRCm39)	N442K	probably damaging	Het
Pus7	A	G	5: 23,957,342 (GRCm39)	S370P	probably damaging	Het
Ripk3	G	T	14: 56,024,741 (GRCm39)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,539,034 (GRCm39)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,287,448 (GRCm39)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 44,931,904 (GRCm39)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,725,303 (GRCm39)	R589Q	probably benign	Het
Slc8a2	T	C	7: 15,875,077 (GRCm39)	S442P	probably damaging	Het
Snupn	T	A	9: 56,890,028 (GRCm39)	M283K	probably damaging	Het
Steap3	A	T	1: 120,162,087 (GRCm39)	M395K	probably damaging	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Tlr1	A	G	5: 65,084,115 (GRCm39)	V154A	probably benign	Het
Tmem131	A	G	1: 36,835,382 (GRCm39)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,316,218 (GRCm39)	R26H	probably benign	Het
Trp53	C	T	11: 69,482,081 (GRCm39)	L365F	probably benign	Het
Trp53bp1	A	T	2: 121,029,516 (GRCm39)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,094,608 (GRCm39)	K279*	probably null	Het
Unc80	A	G	1: 66,591,368 (GRCm39)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,213,153 (GRCm39)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,832,641 (GRCm39)	H78L	possibly damaging	Het
Zfp869	G	A	8: 70,159,128 (GRCm39)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,598,314 (GRCm39)	V638A	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
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
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'- TTATGAAAACGAAGGGGCCC -3'
(R):5'- GTGACATACTTGCTTCTCTGGG -3'

Sequencing Primer
(F):5'- AACGAAGGGGCCCTGCAC -3'
(R):5'- GCTTCTCTGGGTCTCTACAGG -3'

Posted On

2019-09-13