Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Abcb8'

714319

Institutional Source

Beutler Lab

Gene Symbol

Abcb8

Ensembl Gene

ENSMUSG00000028973

Gene Name

ATP-binding cassette, sub-family B member 8

Synonyms

4833412N02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24598661-24615052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24612382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 564 (Y564C)

Ref Sequence

ENSEMBL: ENSMUSP00000072826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073076] [ENSMUST00000115077]

AlphaFold

Q9CXJ4

Predicted Effect

probably null
Transcript: ENSMUST00000073076
AA Change: Y564C

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

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: Y564C

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	3.6e-48	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115077
AA Change: Y564C

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

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: Y564C

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	1.1e-56	PFAM
AAA	481	668	8.58e-16	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973
AA Change: Y99C

Domain	Start	End	E-Value	Type
Pfam:Zeta_toxin	6	68	7.5e-9	PFAM
Pfam:ABC_tran	8	124	1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198166

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 36,015,198 (GRCm39)	D470V	probably benign	Het
Actr10	T	C	12: 71,006,818 (GRCm39)		probably null	Het
Adam4	T	A	12: 81,467,071 (GRCm39)	I517L	probably benign	Het
Ank1	C	A	8: 23,622,429 (GRCm39)	D1659E	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Avl9	T	C	6: 56,706,726 (GRCm39)	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733 (GRCm39)	I157N	probably benign	Het
Bicc1	A	T	10: 70,792,981 (GRCm39)	D224E	probably damaging	Het
C2	T	G	17: 35,095,319 (GRCm39)	I209L	probably benign	Het
Cacna1e	A	T	1: 154,289,720 (GRCm39)		probably null	Het
Capn1	T	C	19: 6,057,287 (GRCm39)	Y387C	probably damaging	Het
Cebpa	A	G	7: 34,819,033 (GRCm39)	I64V	possibly damaging	Het
Celf4	T	G	18: 25,624,219 (GRCm39)	M436L	probably benign	Het
Cfb	C	A	17: 35,078,084 (GRCm39)	V436L	probably benign	Het
Ciart	C	T	3: 95,788,527 (GRCm39)	C104Y	probably benign	Het
Cmya5	A	G	13: 93,232,394 (GRCm39)	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,687,833 (GRCm39)	M388K	possibly damaging	Het
Cypt12	T	C	3: 18,002,843 (GRCm39)	V72A	probably benign	Het
Dlec1	A	G	9: 118,941,541 (GRCm39)	D309G	probably benign	Het
Dnah1	A	G	14: 31,018,448 (GRCm39)	V1394A	probably benign	Het
Dpp3	A	C	19: 4,973,750 (GRCm39)	S108A	probably benign	Het
Eif5b	C	T	1: 38,084,861 (GRCm39)	P903S	probably damaging	Het
Erc2	A	G	14: 27,733,690 (GRCm39)	D580G	probably damaging	Het
Fam98c	A	G	7: 28,852,901 (GRCm39)	V44A	probably benign	Het
Fer	A	G	17: 64,231,067 (GRCm39)	K273E	probably benign	Het
Gzme	T	A	14: 56,355,854 (GRCm39)	I153F	probably benign	Het
Ice1	A	T	13: 70,744,462 (GRCm39)	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,356,894 (GRCm39)	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 126,983,334 (GRCm39)	E263*	probably null	Het
Kat8	A	G	7: 127,524,421 (GRCm39)	K433R	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,762,849 (GRCm39)	T59S	probably benign	Het
Lig3	C	T	11: 82,681,448 (GRCm39)	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,159,157 (GRCm39)	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,850,726 (GRCm39)	C90*	probably null	Het
Micall2	T	G	5: 139,703,311 (GRCm39)		probably null	Het
Mtmr3	G	T	11: 4,441,037 (GRCm39)	L539I	probably damaging	Het
Obscn	C	A	11: 58,924,962 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,575 (GRCm39)	T269A	probably benign	Het
Oprl1	C	T	2: 181,360,454 (GRCm39)	A170V	possibly damaging	Het
Or4c112	C	T	2: 88,854,234 (GRCm39)	G38R		Het
Pdgfrb	G	A	18: 61,198,798 (GRCm39)	V319M	possibly damaging	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Pkd2	T	C	5: 104,614,841 (GRCm39)	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,682,953 (GRCm39)	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,734,992 (GRCm39)	D111G	probably damaging	Het
Plpp2	A	G	10: 79,363,702 (GRCm39)	S162P	probably damaging	Het
Prex2	T	A	1: 11,256,151 (GRCm39)	I1174K	probably benign	Het
Prkdc	T	A	16: 15,485,465 (GRCm39)	Y431N	possibly damaging	Het
Pter	A	G	2: 12,985,111 (GRCm39)	D147G	probably benign	Het
Rbsn	T	C	6: 92,178,745 (GRCm39)	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,153,339 (GRCm39)	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Scn2a	G	A	2: 65,595,163 (GRCm39)	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,391,271 (GRCm39)	N593I	probably damaging	Het
Spata31e3	T	C	13: 50,400,808 (GRCm39)	H506R	possibly damaging	Het
Speg	T	C	1: 75,399,152 (GRCm39)	S2200P	probably benign	Het
Thoc2l	T	A	5: 104,669,610 (GRCm39)	N1377K	probably benign	Het
Tle1	A	T	4: 72,040,596 (GRCm39)	H654Q	probably benign	Het
Ttll6	G	A	11: 96,026,588 (GRCm39)	R124H	probably damaging	Het
Vmn2r111	A	G	17: 22,778,132 (GRCm39)	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,288 (GRCm39)	S213P	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,697,257 (GRCm39)	L771F	possibly damaging	Het
Washc4	A	G	10: 83,396,387 (GRCm39)	N399S	probably benign	Het
Wdr37	G	A	13: 8,897,663 (GRCm39)	H198Y		Het
Zfp407	A	G	18: 84,580,579 (GRCm39)	L178P	probably benign	Het
Zfp882	C	T	8: 72,668,831 (GRCm39)	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,940,370 (GRCm39)	V243A	probably benign	Het

Other mutations in Abcb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02349:Abcb8	APN	5	24,611,462 (GRCm39)	missense	probably benign
IGL02819:Abcb8	APN	5	24,611,422 (GRCm39)	missense	probably benign
Thumbs	UTSW	5	24,607,101 (GRCm39)	missense	probably damaging	0.99
R0320:Abcb8	UTSW	5	24,605,788 (GRCm39)	missense	probably damaging	1.00
R0458:Abcb8	UTSW	5	24,611,231 (GRCm39)	missense	probably benign	0.02
R0927:Abcb8	UTSW	5	24,607,317 (GRCm39)	missense	probably damaging	1.00
R1120:Abcb8	UTSW	5	24,613,818 (GRCm39)	critical splice donor site	probably null
R1553:Abcb8	UTSW	5	24,613,748 (GRCm39)	missense	probably damaging	1.00
R3738:Abcb8	UTSW	5	24,605,619 (GRCm39)	missense	probably benign	0.00
R3739:Abcb8	UTSW	5	24,605,619 (GRCm39)	missense	probably benign	0.00
R4035:Abcb8	UTSW	5	24,605,619 (GRCm39)	missense	probably benign	0.00
R4303:Abcb8	UTSW	5	24,606,055 (GRCm39)	missense	probably damaging	1.00
R4930:Abcb8	UTSW	5	24,605,779 (GRCm39)	missense	possibly damaging	0.89
R5369:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R5370:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R5485:Abcb8	UTSW	5	24,605,159 (GRCm39)	missense	probably benign	0.01
R5505:Abcb8	UTSW	5	24,606,036 (GRCm39)	missense	probably damaging	1.00
R5627:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R5633:Abcb8	UTSW	5	24,608,107 (GRCm39)	missense	probably damaging	1.00
R5693:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R5761:Abcb8	UTSW	5	24,610,879 (GRCm39)	intron	probably benign
R5866:Abcb8	UTSW	5	24,607,101 (GRCm39)	missense	probably damaging	0.99
R5995:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R5996:Abcb8	UTSW	5	24,605,137 (GRCm39)	missense	possibly damaging	0.75
R6621:Abcb8	UTSW	5	24,599,508 (GRCm39)	missense	probably benign
R7407:Abcb8	UTSW	5	24,605,674 (GRCm39)	missense	probably benign	0.00
R8026:Abcb8	UTSW	5	24,611,723 (GRCm39)	missense	probably damaging	1.00
R8220:Abcb8	UTSW	5	24,611,783 (GRCm39)	missense	possibly damaging	0.70
R9162:Abcb8	UTSW	5	24,611,732 (GRCm39)	missense	probably damaging	0.98
R9196:Abcb8	UTSW	5	24,605,644 (GRCm39)	missense	probably benign	0.00
R9372:Abcb8	UTSW	5	24,605,114 (GRCm39)	missense	probably benign
X0026:Abcb8	UTSW	5	24,606,044 (GRCm39)	missense	possibly damaging	0.95
Z1176:Abcb8	UTSW	5	24,605,993 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTACAATCATGGTCCTG -3'
(R):5'- TGAGCCACATGTCTCAGGTTC -3'

Sequencing Primer
(F):5'- TGGTCCTGTAAAATAAGACCCTCCTG -3'
(R):5'- AGGTTCTTCTGTCTCCATAAAGC -3'

Posted On

2022-06-15