Mutagenetix > Incidental Mutations

Incidental Mutation 'R4930:Abcb8'

381144

Institutional Source

Beutler Lab

Gene Symbol

Abcb8

Ensembl Gene

ENSMUSG00000028973

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 8

Synonyms

MMRRC Submission

042531-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R4930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24393663-24410054 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24400781 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 196 (V196M)

Ref Sequence

ENSEMBL: ENSMUSP00000110729 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073076
AA Change: V196M

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: V196M

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

possibly damaging
Transcript: ENSMUST00000115077
AA Change: V196M

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: V196M

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

probably benign
Transcript: ENSMUST00000138168

SMART Domains

Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198166

Meta Mutation Damage Score

0.1387

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,906,234	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,222,404	M499T	possibly damaging	Het
Ahnak	T	C	19: 9,010,967	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,115,033	Y265H	probably damaging	Het
Apeh	A	G	9: 108,087,825	S446P	probably benign	Het
Apip	C	A	2: 103,091,881	Y197*	probably null	Het
Arhgef11	T	G	3: 87,728,594	V925G	probably damaging	Het
Arid4b	T	C	13: 14,187,477	V929A	probably damaging	Het
Asah2	T	A	19: 32,052,906	D122V	probably benign	Het
B2m	A	T	2: 122,151,647	D116V	possibly damaging	Het
BC067074	G	T	13: 113,327,662	G1453C	probably damaging	Het
Bhmt-ps1	A	G	4: 26,369,184		noncoding transcript	Het
Cacna1g	T	A	11: 94,444,073	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,690,285	V113E	probably damaging	Het
Cenpj	A	T	14: 56,534,781	Y388*	probably null	Het
Chd3	G	A	11: 69,354,208		probably benign	Het
Chil3	C	T	3: 106,164,208	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,499,959	T361A	possibly damaging	Het
Cops3	C	A	11: 59,835,367		probably benign	Het
Crb2	G	T	2: 37,783,314	G74V	probably damaging	Het
Cyp20a1	A	T	1: 60,366,719	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,141,166		probably benign	Het
Dnah3	A	T	7: 119,951,681	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 127,041,355	S14A	possibly damaging	Het
Ehf	C	A	2: 103,266,857	R250L	probably damaging	Het
Eps8l1	G	A	7: 4,460,916	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,656,315	V257G	possibly damaging	Het
Gc	T	C	5: 89,439,589	T259A	probably benign	Het
Gm4952	A	T	19: 12,627,012	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,546,874	H326L	probably damaging	Het
Helz	T	C	11: 107,620,168	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,318,836	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,272,698		probably null	Het
Ighv1-81	T	C	12: 115,920,304	D109G	probably damaging	Het
Irx4	T	C	13: 73,268,913	V476A	probably benign	Het
Katnb1	T	A	8: 95,097,294		probably null	Het
L3mbtl1	A	G	2: 162,965,772	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,193,832		probably null	Het
Lrrc38	A	T	4: 143,369,868	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215	Y34*	probably null	Het
Mgst1	T	A	6: 138,153,509	F79I	probably benign	Het
Midn	T	C	10: 80,155,355	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640	D208E	probably benign	Het
Mrps26	A	G	2: 130,564,942	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,503,157	M371K	probably benign	Het
Mynn	A	C	3: 30,607,042	N91T	probably damaging	Het
Nek11	A	G	9: 105,300,066	L292P	probably damaging	Het
Nid1	A	T	13: 13,510,011	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,320,929	Y121H	probably damaging	Het
Olfr1020	T	A	2: 85,849,893	I147N	probably benign	Het
Olfr1166	A	C	2: 88,124,340	I215S	probably benign	Het
Olfr1178	G	A	2: 88,391,940	R231H	probably benign	Het
Olfr1497	T	C	19: 13,795,551	H20R	probably benign	Het
Olfr161	T	G	16: 3,592,435	L13R	probably damaging	Het
Olfr204	C	A	16: 59,314,873	C178F	probably damaging	Het
Olfr872	T	C	9: 20,260,017	I59T	probably damaging	Het
P2rx7	C	T	5: 122,670,479	T308M	probably damaging	Het
Prdx6	C	T	1: 161,241,693		probably benign	Het
Rad54b	T	A	4: 11,615,579	D862E	probably damaging	Het
Ripor1	A	G	8: 105,617,182	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,453,465	M43V	probably benign	Het
Rp1l1	A	G	14: 64,032,206	N1747S	probably benign	Het
Rps27	A	G	3: 90,212,999	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236	V86A	possibly damaging	Het
Spdef	A	G	17: 27,718,162	Y156H	probably damaging	Het
Specc1	A	C	11: 62,118,958	E433D	possibly damaging	Het
Srpr	T	A	9: 35,215,030	F506L	probably benign	Het
Stxbp5	A	G	10: 9,760,866		probably benign	Het
Syne1	C	T	10: 5,052,777	R8046Q	probably damaging	Het
Tbx5	T	A	5: 119,883,025	S365R	probably benign	Het
Terb1	G	T	8: 104,447,948	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,661,948	Y27*	probably null	Het
Tmem106c	C	A	15: 97,965,028	A60E	possibly damaging	Het
Ttc26	A	T	6: 38,391,540	Y174F	probably damaging	Het
Ttc6	T	A	12: 57,673,823		probably null	Het
Ttn	T	C	2: 76,732,370	I28747V	possibly damaging	Het
Unc13a	C	T	8: 71,630,504		probably null	Het
Wdr81	T	C	11: 75,451,924	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,199,805	Q33E	probably benign	Het
Zfp456	T	C	13: 67,366,946	R214G	probably benign	Het
Zfp457	T	A	13: 67,294,100	Y137F	probably damaging	Het

Other mutations in Abcb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02349:Abcb8	APN	5	24406464	missense	probably benign
IGL02819:Abcb8	APN	5	24406424	missense	probably benign
Thumbs	UTSW	5	24402103	missense	probably damaging	0.99
R0320:Abcb8	UTSW	5	24400790	missense	probably damaging	1.00
R0458:Abcb8	UTSW	5	24406233	missense	probably benign	0.02
R0927:Abcb8	UTSW	5	24402319	missense	probably damaging	1.00
R1120:Abcb8	UTSW	5	24408820	critical splice donor site	probably null
R1553:Abcb8	UTSW	5	24408750	missense	probably damaging	1.00
R3738:Abcb8	UTSW	5	24400621	missense	probably benign	0.00
R3739:Abcb8	UTSW	5	24400621	missense	probably benign	0.00
R4035:Abcb8	UTSW	5	24400621	missense	probably benign	0.00
R4303:Abcb8	UTSW	5	24401057	missense	probably damaging	1.00
R5369:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R5370:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R5485:Abcb8	UTSW	5	24400161	missense	probably benign	0.01
R5505:Abcb8	UTSW	5	24401038	missense	probably damaging	1.00
R5627:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R5633:Abcb8	UTSW	5	24403109	missense	probably damaging	1.00
R5693:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R5761:Abcb8	UTSW	5	24405881	intron	probably benign
R5866:Abcb8	UTSW	5	24402103	missense	probably damaging	0.99
R5995:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R5996:Abcb8	UTSW	5	24400139	missense	possibly damaging	0.75
R6621:Abcb8	UTSW	5	24394510	missense	probably benign
R7407:Abcb8	UTSW	5	24400676	missense	probably benign	0.00
X0026:Abcb8	UTSW	5	24401046	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGAGATTGTCGCCAAGTAC -3'
(R):5'- AATGTCTTGCCTGGCAGGAAG -3'

Sequencing Primer
(F):5'- TTGTCGCCAAGTACACGAG -3'
(R):5'- TCTTGCCTGGCAGGAAGACATG -3'

Posted On

2016-04-15