Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Abcb8'

481115

Institutional Source

Beutler Lab

Gene Symbol

Abcb8

Ensembl Gene

ENSMUSG00000028973

Gene Name

ATP-binding cassette, sub-family B member 8

Synonyms

4833412N02Rik

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24598661-24615052 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24605137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 108 (R108C)

Ref Sequence

ENSEMBL: ENSMUSP00000119791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000138168]

AlphaFold

Q9CXJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000073076
AA Change: R108C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: R108C

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

noncoding transcript
Transcript: ENSMUST00000115074

SMART Domains

Protein: ENSMUSP00000110726
Gene: ENSMUSG00000028973

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:ABC_membrane	130	407	2.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115077
AA Change: R108C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: R108C

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

noncoding transcript
Transcript: ENSMUST00000127816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136414

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138168
AA Change: R108C

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973
AA Change: R108C

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198166

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	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
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
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'- ATTTGAAGGACAGCCAGGC -3'
(R):5'- TGCACAGGTTATCCCGATG -3'

Sequencing Primer
(F):5'- AGGCCCACAGCTGTCAATG -3'
(R):5'- AGGTTATCCCGATGCCCCAG -3'

Posted On

2017-06-26