Incidental Mutation 'R5693:Abcb8'
ID |
443764 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb8
|
Ensembl Gene |
ENSMUSG00000028973 |
Gene Name |
ATP-binding cassette, sub-family B member 8 |
Synonyms |
4833412N02Rik |
MMRRC Submission |
043180-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R5693 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,385,077 (GRCm39) |
R661C |
probably damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
Snx16 |
T |
C |
3: 10,485,318 (GRCm39) |
I293V |
probably benign |
Het |
Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
Tmem168 |
T |
C |
6: 13,602,320 (GRCm39) |
M349V |
probably benign |
Het |
Tyro3 |
T |
G |
2: 119,641,349 (GRCm39) |
F519L |
probably damaging |
Het |
Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly damaging |
Het |
Zfp654 |
T |
C |
16: 64,606,289 (GRCm39) |
T97A |
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 |
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 |
|
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'- AATTTGAAGGACAGCCAGGC -3'
(R):5'- TGCACAGGTTATCCCGATGC -3'
Sequencing Primer
(F):5'- AGGCCCACAGCTGTCAATG -3'
(R):5'- AGGTTATCCCGATGCCCCAG -3'
|
Posted On |
2016-11-09 |