Mutagenetix > Incidental Mutation

Incidental Mutation 'R8220:Abcb8'

636607

Institutional Source

Beutler Lab

Gene Symbol

Abcb8

Ensembl Gene

ENSMUSG00000028973

Gene Name

ATP-binding cassette, sub-family B member 8

Synonyms

4833412N02Rik

MMRRC Submission

067638-MU

Accession Numbers

Essential gene?

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

Stock #

R8220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24598661-24615052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24611783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 533 (I533T)

Ref Sequence

ENSEMBL: ENSMUSP00000072826 (fasta)

Gene Model

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

AlphaFold

Q9CXJ4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073076
AA Change: I533T

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: I533T

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

possibly damaging
Transcript: ENSMUST00000115077
AA Change: I533T

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: I533T

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: I68T

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: 99.1%

Validation Efficiency

100% (78/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,723 (GRCm39)	C106S	probably damaging	Het
Abca13	C	T	11: 9,384,299 (GRCm39)	T3917M	possibly damaging	Het
Becn1	C	T	11: 101,187,105 (GRCm39)	R78Q	possibly damaging	Het
Bhlha9	T	C	11: 76,563,703 (GRCm39)	I110T	probably damaging	Het
Cemip	T	C	7: 83,596,368 (GRCm39)	D1132G	probably damaging	Het
Cyth3	T	A	5: 143,687,344 (GRCm39)		probably null	Het
Dcpp2	A	G	17: 24,119,666 (GRCm39)	E160G	possibly damaging	Het
Dock10	C	T	1: 80,506,366 (GRCm39)	G1726S	probably null	Het
Dsel	T	C	1: 111,789,437 (GRCm39)	D366G	probably damaging	Het
Ednrb	A	T	14: 104,059,141 (GRCm39)	L295Q	probably damaging	Het
Etaa1	C	T	11: 17,895,690 (GRCm39)	R809K	probably benign	Het
Fahd1	A	G	17: 25,068,864 (GRCm39)	L71P	probably damaging	Het
Fat1	A	G	8: 45,492,993 (GRCm39)	E3882G	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gba2	T	G	4: 43,568,510 (GRCm39)	D652A	probably damaging	Het
Gm5460	C	T	14: 33,767,876 (GRCm39)	P220S	probably damaging	Het
Gm7137	A	T	10: 77,623,785 (GRCm39)	C84S	unknown	Het
Gm8122	G	T	14: 43,090,174 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,805,922 (GRCm39)	S187G	probably benign	Het
Hyal5	A	T	6: 24,876,879 (GRCm39)	I251L	probably benign	Het
Igf2r	A	T	17: 12,910,958 (GRCm39)	S1953R	probably benign	Het
Igkc	C	A	6: 70,703,666 (GRCm39)	N82K		Het
Il18	T	A	9: 50,486,616 (GRCm39)	M15K	possibly damaging	Het
Insr	T	A	8: 3,208,702 (GRCm39)	E1253V	probably benign	Het
Itgax	A	G	7: 127,730,090 (GRCm39)	Q82R	probably benign	Het
Kcnn3	A	G	3: 89,568,548 (GRCm39)	I609V	probably benign	Het
Klk14	A	G	7: 43,343,498 (GRCm39)	D110G	probably damaging	Het
Lamb3	T	A	1: 193,016,556 (GRCm39)	L679Q	probably damaging	Het
Lgsn	C	T	1: 31,235,881 (GRCm39)	A115V	probably benign	Het
Lipt1	C	T	1: 37,914,706 (GRCm39)	T254M	probably damaging	Het
Lrrc3b	T	C	14: 15,358,004 (GRCm38)	T201A	probably damaging	Het
Lrrc49	T	A	9: 60,517,613 (GRCm39)	D432V	probably benign	Het
Meltf	A	G	16: 31,706,233 (GRCm39)	N239S	probably benign	Het
Mki67	G	A	7: 135,299,850 (GRCm39)	A1728V	probably benign	Het
Mms22l	T	A	4: 24,536,375 (GRCm39)	L615I	probably damaging	Het
Mtcl3	C	T	10: 29,023,264 (GRCm39)	Q204*	probably null	Het
Mttp	C	A	3: 137,829,609 (GRCm39)	G93V	probably benign	Het
Muc4	A	T	16: 32,575,701 (GRCm39)	T1734S	unknown	Het
Myh9	C	T	15: 77,648,747 (GRCm39)	R1703Q	possibly damaging	Het
N4bp1	T	C	8: 87,571,315 (GRCm39)	*894W	probably null	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nup43	C	T	10: 7,552,097 (GRCm39)	A295V	probably benign	Het
Or1af1	T	C	2: 37,109,791 (GRCm39)	C97R	probably benign	Het
Or4b12	T	C	2: 90,096,387 (GRCm39)	H129R	probably benign	Het
Or7g32	G	T	9: 19,408,317 (GRCm39)	S91I	probably damaging	Het
Or8k3	C	T	2: 86,059,309 (GRCm39)	G2E	probably benign	Het
Or9m2	C	T	2: 87,820,496 (GRCm39)	L14F	probably damaging	Het
Pcdha11	A	G	18: 37,139,624 (GRCm39)	T418A	probably benign	Het
Pdzd2	T	C	15: 12,592,249 (GRCm39)	K132E	probably damaging	Het
Pira13	T	C	7: 3,825,903 (GRCm39)	E322G	unknown	Het
Plec	C	T	15: 76,062,497 (GRCm39)	R2480H	possibly damaging	Het
Plscr2	G	A	9: 92,177,713 (GRCm39)	G293D	probably damaging	Het
Prr23a4	A	G	9: 98,785,581 (GRCm39)	D82G	probably benign	Het
Ptchd4	A	G	17: 42,813,554 (GRCm39)	H485R	probably benign	Het
Rbbp9	A	T	2: 144,389,986 (GRCm39)	M59K	probably null	Het
Rest	G	A	5: 77,430,325 (GRCm39)	A915T	probably benign	Het
Rhbdf1	C	T	11: 32,164,563 (GRCm39)	A168T	probably benign	Het
Scamp2	A	T	9: 57,484,953 (GRCm39)	Q53L	probably benign	Het
Scn2a	T	C	2: 65,520,620 (GRCm39)	F539L	probably benign	Het
Sdr16c6	A	T	4: 4,076,872 (GRCm39)	I9N	probably benign	Het
Slc23a3	T	A	1: 75,110,511 (GRCm39)		probably benign	Het
Slc6a19	A	G	13: 73,833,889 (GRCm39)	S390P	probably damaging	Het
Snx11	C	T	11: 96,661,885 (GRCm39)	R99Q	probably damaging	Het
Suclg2	T	A	6: 95,565,927 (GRCm39)	I189F	possibly damaging	Het
Tedc1	T	C	12: 113,120,375 (GRCm39)		probably null	Het
Timeless	A	T	10: 128,082,265 (GRCm39)	R598W	probably damaging	Het
Tm9sf3	A	T	19: 41,203,526 (GRCm39)	N583K	possibly damaging	Het
Tox3	A	G	8: 90,984,708 (GRCm39)	V157A	probably damaging	Het
Tpr	G	T	1: 150,308,164 (GRCm39)	V1640L	probably benign	Het
Trav7-4	C	T	14: 53,699,102 (GRCm39)	A83V	probably benign	Het
Trdn	A	G	10: 33,326,981 (GRCm39)	K590R	possibly damaging	Het
Trim11	T	C	11: 58,881,220 (GRCm39)	L371P	probably damaging	Het
Trim5	T	A	7: 103,926,033 (GRCm39)	Q176L	probably damaging	Het
Tubgcp2	T	C	7: 139,586,053 (GRCm39)	H412R	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Ush2a	T	A	1: 188,460,863 (GRCm39)	V2708E	probably damaging	Het
Vmn1r87	T	A	7: 12,865,427 (GRCm39)	T287S	possibly damaging	Het
Zbtb7a	A	G	10: 80,980,838 (GRCm39)	D344G	probably damaging	Het
Zfp560	G	T	9: 20,260,348 (GRCm39)	N171K	probably benign	Het
Zfp579	A	T	7: 4,996,850 (GRCm39)	C354S	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
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
R9452:Abcb8	UTSW	5	24,612,382 (GRCm39)	missense	probably null	1.00
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'- ACAAGGGTCTGTCTTTGCTAG -3'
(R):5'- AGCTCTGGGATCTTAAGACTGC -3'

Sequencing Primer
(F):5'- GGAGGTTCTCCCCAACTCC -3'
(R):5'- GGATCTTAAGACTGCTGCCCATAG -3'

Posted On

2020-07-13