Incidental Mutation 'R7407:Abcb8'
ID |
574783 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb8
|
Ensembl Gene |
ENSMUSG00000028973 |
Gene Name |
ATP-binding cassette, sub-family B member 8 |
Synonyms |
4833412N02Rik |
MMRRC Submission |
045488-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R7407 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24598661-24615052 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24605674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072826
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073076]
[ENSMUST00000115077]
[ENSMUST00000138168]
|
AlphaFold |
Q9CXJ4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073076
AA Change: V186A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000072826 Gene: ENSMUSG00000028973 AA Change: V186A
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 |
probably benign
Transcript: ENSMUST00000115077
AA Change: V186A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000110729 Gene: ENSMUSG00000028973 AA Change: V186A
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
Ccdc186 |
T |
C |
19: 56,801,817 (GRCm39) |
N100S |
probably benign |
Het |
Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,120,362 (GRCm39) |
F482L |
probably damaging |
Het |
Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
Gpatch8 |
G |
A |
11: 102,370,656 (GRCm39) |
R961W |
unknown |
Het |
Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
Rcor3 |
C |
T |
1: 191,785,972 (GRCm39) |
S422N |
probably benign |
Het |
Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
Trim6 |
T |
C |
7: 103,875,108 (GRCm39) |
I115T |
probably damaging |
Het |
Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
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 |
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 |
R5996:Abcb8
|
UTSW |
5 |
24,605,137 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6621:Abcb8
|
UTSW |
5 |
24,599,508 (GRCm39) |
missense |
probably benign |
|
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'- CTTTTGTGACATGGATGGCC -3'
(R):5'- GGAGCTGAAAAGGGCTTTCC -3'
Sequencing Primer
(F):5'- TGGATACAGCCTCCTCTCCAGG -3'
(R):5'- AAAAGGGCTTTCCGCATGTC -3'
|
Posted On |
2019-10-07 |