Incidental Mutation 'R5866:Abcb8'
ID |
454166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb8
|
Ensembl Gene |
ENSMUSG00000028973 |
Gene Name |
ATP-binding cassette, sub-family B member 8 |
Synonyms |
4833412N02Rik |
MMRRC Submission |
044075-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R5866 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24598661-24615052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24607101 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 328
(A328V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073076]
[ENSMUST00000115077]
[ENSMUST00000138168]
|
AlphaFold |
Q9CXJ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073076
AA Change: A328V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072826 Gene: ENSMUSG00000028973 AA Change: A328V
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 damaging
Transcript: ENSMUST00000115077
AA Change: A328V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110729 Gene: ENSMUSG00000028973 AA Change: A328V
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 |
noncoding transcript
Transcript: ENSMUST00000136459
|
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151535
|
SMART Domains |
Protein: ENSMUSP00000114767 Gene: ENSMUSG00000028973
Domain | Start | End | E-Value | Type |
Pfam:Zeta_toxin
|
6 |
68 |
7.5e-9 |
PFAM |
Pfam:ABC_tran
|
8 |
124 |
1e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.8072 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.7%
|
Validation Efficiency |
91% (51/56) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
G |
1: 120,096,814 (GRCm39) |
|
probably benign |
Het |
A530084C06Rik |
G |
A |
13: 31,743,178 (GRCm39) |
A25V |
unknown |
Het |
A730018C14Rik |
T |
C |
12: 112,381,472 (GRCm39) |
|
noncoding transcript |
Het |
Aasdh |
G |
T |
5: 77,024,058 (GRCm39) |
A198E |
probably damaging |
Het |
Ace3 |
C |
A |
11: 105,888,330 (GRCm39) |
H347N |
probably damaging |
Het |
Amy1 |
A |
T |
3: 113,355,569 (GRCm39) |
M302K |
possibly damaging |
Het |
Apol11b |
C |
T |
15: 77,524,747 (GRCm39) |
V13M |
probably null |
Het |
Arfgef2 |
T |
A |
2: 166,678,177 (GRCm39) |
V131E |
possibly damaging |
Het |
Arnt |
T |
A |
3: 95,398,037 (GRCm39) |
|
probably benign |
Het |
Atl1 |
T |
C |
12: 69,972,785 (GRCm39) |
V35A |
probably damaging |
Het |
BC061237 |
A |
T |
14: 44,738,730 (GRCm39) |
D43V |
possibly damaging |
Het |
Cracd |
A |
G |
5: 77,005,384 (GRCm39) |
T582A |
unknown |
Het |
Cyp4f17 |
T |
C |
17: 32,725,887 (GRCm39) |
S7P |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,393,774 (GRCm39) |
Y70C |
probably damaging |
Het |
Defb34 |
T |
C |
8: 19,176,468 (GRCm39) |
L53P |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,518,567 (GRCm39) |
T525A |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,030,129 (GRCm39) |
|
probably benign |
Het |
Fam83d |
T |
A |
2: 158,621,750 (GRCm39) |
|
probably null |
Het |
Gramd2b |
A |
G |
18: 56,607,108 (GRCm39) |
D74G |
possibly damaging |
Het |
Hax1 |
A |
G |
3: 89,903,035 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,263,804 (GRCm39) |
I767T |
probably benign |
Het |
Ldah |
G |
A |
12: 8,270,614 (GRCm39) |
V5I |
possibly damaging |
Het |
Nbeal2 |
A |
G |
9: 110,460,560 (GRCm39) |
V1758A |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,033,967 (GRCm39) |
D363G |
probably damaging |
Het |
Or14j6 |
C |
T |
17: 38,214,700 (GRCm39) |
R88* |
probably null |
Het |
Pdlim7 |
T |
A |
13: 55,646,501 (GRCm39) |
D445V |
probably damaging |
Het |
Phip |
T |
A |
9: 82,772,203 (GRCm39) |
M1115L |
probably benign |
Het |
Pigb |
C |
T |
9: 72,936,966 (GRCm39) |
A215T |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,799,935 (GRCm39) |
S2952C |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,051,775 (GRCm39) |
D148G |
probably damaging |
Het |
Ppp1r36 |
T |
C |
12: 76,473,579 (GRCm39) |
F70S |
possibly damaging |
Het |
Rad52 |
G |
A |
6: 119,889,907 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
T |
A |
9: 96,427,823 (GRCm39) |
T681S |
probably benign |
Het |
Rel |
A |
T |
11: 23,692,724 (GRCm39) |
Y436* |
probably null |
Het |
Sec16a |
G |
A |
2: 26,309,650 (GRCm39) |
P2119S |
probably benign |
Het |
Sema6d |
C |
A |
2: 124,506,262 (GRCm39) |
T733K |
probably benign |
Het |
Sf3b3 |
C |
T |
8: 111,541,266 (GRCm39) |
A950T |
probably benign |
Het |
Slc24a5 |
T |
A |
2: 124,927,591 (GRCm39) |
F297I |
probably damaging |
Het |
Spp2 |
A |
T |
1: 88,340,025 (GRCm39) |
D122V |
possibly damaging |
Het |
Stap1 |
A |
G |
5: 86,225,906 (GRCm39) |
K60R |
probably benign |
Het |
Stat1 |
A |
G |
1: 52,178,423 (GRCm39) |
K286E |
probably damaging |
Het |
Stn1 |
T |
C |
19: 47,505,568 (GRCm39) |
T129A |
probably benign |
Het |
Tagap |
C |
T |
17: 8,152,285 (GRCm39) |
T490I |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,637,715 (GRCm39) |
E177G |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,174,150 (GRCm39) |
L841Q |
probably damaging |
Het |
Tmem59 |
T |
A |
4: 107,047,754 (GRCm39) |
M71K |
probably damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,406 (GRCm39) |
T206I |
probably damaging |
Het |
Utp20 |
G |
A |
10: 88,608,421 (GRCm39) |
H1539Y |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,657,387 (GRCm39) |
N1794S |
probably benign |
Het |
Vsig10 |
A |
T |
5: 117,490,814 (GRCm39) |
|
probably null |
Het |
Zfp97 |
T |
A |
17: 17,365,087 (GRCm39) |
F195L |
possibly damaging |
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 |
|
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 |
|
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'- ACTGGGATTCTTGACTTGTCTC -3'
(R):5'- TCACAGTTGAAAGCGATGTTGG -3'
Sequencing Primer
(F):5'- GGATTCTTGACTTGTCTCCCTTGG -3'
(R):5'- ATGTTGGAGAGCCCTTGGAAC -3'
|
Posted On |
2017-02-10 |