Incidental Mutation 'R0320:Abcb8'
ID |
38276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb8
|
Ensembl Gene |
ENSMUSG00000028973 |
Gene Name |
ATP-binding cassette, sub-family B member 8 |
Synonyms |
4833412N02Rik |
MMRRC Submission |
038530-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R0320 (G1)
|
Quality Score |
120 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24598661-24615052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24605788 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 199
(S199P)
|
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: S199P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072826 Gene: ENSMUSG00000028973 AA Change: S199P
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: S199P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110729 Gene: ENSMUSG00000028973 AA Change: S199P
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 |
0.9393 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (71/71) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,571 (GRCm39) |
T465A |
probably benign |
Het |
A430110L20Rik |
T |
G |
1: 181,054,987 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm1 |
A |
T |
4: 144,248,990 (GRCm39) |
H119L |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,689,746 (GRCm39) |
R439Q |
probably benign |
Het |
Adam8 |
C |
A |
7: 139,566,355 (GRCm39) |
C556F |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,750,819 (GRCm39) |
T523A |
probably benign |
Het |
Aldh3b1 |
T |
C |
19: 3,968,999 (GRCm39) |
|
probably benign |
Het |
Arhgap30 |
T |
A |
1: 171,231,372 (GRCm39) |
W230R |
possibly damaging |
Het |
Atp8b4 |
A |
G |
2: 126,301,614 (GRCm39) |
I82T |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,963,645 (GRCm39) |
L1850I |
probably damaging |
Het |
C4b |
C |
A |
17: 34,952,135 (GRCm39) |
V1237L |
probably benign |
Het |
Calu |
C |
A |
6: 29,374,550 (GRCm39) |
|
probably benign |
Het |
Cit |
C |
A |
5: 116,117,504 (GRCm39) |
L1227M |
possibly damaging |
Het |
Col4a1 |
C |
T |
8: 11,292,782 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,029,012 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
C |
11: 76,731,273 (GRCm39) |
D311G |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,924,363 (GRCm39) |
S972T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,943,500 (GRCm39) |
F3201L |
possibly damaging |
Het |
Dop1b |
C |
A |
16: 93,607,035 (GRCm39) |
R2113S |
probably benign |
Het |
Dym |
T |
A |
18: 75,332,333 (GRCm39) |
D520E |
probably damaging |
Het |
Eif5a |
G |
T |
11: 69,808,305 (GRCm39) |
T64K |
probably benign |
Het |
Flt3 |
A |
T |
5: 147,306,389 (GRCm39) |
|
probably benign |
Het |
Ints6 |
A |
T |
14: 62,945,084 (GRCm39) |
Y415* |
probably null |
Het |
Itga1 |
A |
G |
13: 115,114,130 (GRCm39) |
|
probably benign |
Het |
Itgae |
A |
G |
11: 73,021,825 (GRCm39) |
H902R |
possibly damaging |
Het |
Itprid1 |
T |
C |
6: 55,953,432 (GRCm39) |
I916T |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,366,581 (GRCm39) |
I406T |
probably benign |
Het |
Lmx1a |
C |
T |
1: 167,618,973 (GRCm39) |
Q111* |
probably null |
Het |
Lrrc25 |
T |
C |
8: 71,070,896 (GRCm39) |
Y226H |
probably benign |
Het |
Mcam |
T |
A |
9: 44,051,483 (GRCm39) |
N447K |
possibly damaging |
Het |
Mcm10 |
A |
T |
2: 5,008,897 (GRCm39) |
D357E |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,089,251 (GRCm39) |
T769A |
probably benign |
Het |
Ofcc1 |
G |
C |
13: 40,360,172 (GRCm39) |
Q286E |
probably benign |
Het |
Or1e23 |
T |
G |
11: 73,407,750 (GRCm39) |
I92L |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,861 (GRCm39) |
I217F |
probably benign |
Het |
Parp3 |
T |
A |
9: 106,353,011 (GRCm39) |
N55I |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,825,953 (GRCm39) |
|
probably null |
Het |
Pilrb1 |
G |
A |
5: 137,853,260 (GRCm39) |
T181I |
probably benign |
Het |
Ppm1n |
A |
G |
7: 19,012,281 (GRCm39) |
V317A |
probably damaging |
Het |
Prdm2 |
A |
T |
4: 142,905,921 (GRCm39) |
F55L |
probably damaging |
Het |
Psd2 |
C |
T |
18: 36,112,697 (GRCm39) |
R131C |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,031,027 (GRCm39) |
C570S |
possibly damaging |
Het |
Scaf8 |
T |
C |
17: 3,228,530 (GRCm39) |
S443P |
unknown |
Het |
Setd5 |
A |
G |
6: 113,088,442 (GRCm39) |
K190R |
probably damaging |
Het |
Spsb4 |
T |
A |
9: 96,878,161 (GRCm39) |
H54L |
probably damaging |
Het |
St7l |
T |
A |
3: 104,778,229 (GRCm39) |
L122* |
probably null |
Het |
Stom |
C |
T |
2: 35,211,646 (GRCm39) |
R125H |
probably damaging |
Het |
Tigd4 |
T |
A |
3: 84,502,481 (GRCm39) |
V466E |
probably benign |
Het |
Tmc3 |
A |
C |
7: 83,257,027 (GRCm39) |
|
probably benign |
Het |
Vcl |
C |
T |
14: 21,035,692 (GRCm39) |
|
probably benign |
Het |
Vmn1r168 |
G |
A |
7: 23,240,767 (GRCm39) |
R208H |
probably benign |
Het |
Vmn2r75 |
C |
A |
7: 85,814,288 (GRCm39) |
V402L |
probably benign |
Het |
Vps13b |
A |
T |
15: 35,674,974 (GRCm39) |
H1698L |
probably damaging |
Het |
Wnt16 |
T |
G |
6: 22,297,992 (GRCm39) |
V286G |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,845,533 (GRCm39) |
V1117L |
probably benign |
Het |
Zfp788 |
C |
T |
7: 41,298,971 (GRCm39) |
H536Y |
probably 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 |
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 |
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'- TGAATGTGCAGATCCCCTTGCTCC -3'
(R):5'- TAGTCAAGCGACTCACTAGCTGCC -3'
Sequencing Primer
(F):5'- TTGTCGCCAAGTACACGAG -3'
(R):5'- GAAAGCAATGTCTTGCCTGG -3'
|
Posted On |
2013-05-23 |