Incidental Mutation 'R9196:Abcb8'
| ID |
697937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb8
|
| Ensembl Gene |
ENSMUSG00000028973 |
| Gene Name |
ATP-binding cassette, sub-family B member 8 |
| Synonyms |
4833412N02Rik |
| MMRRC Submission |
068955-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R9196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24598661-24615052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24605644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 176
(L176P)
|
| 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: L176P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: L176P
| 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: L176P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: L176P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
92% (35/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,513,647 (GRCm39) |
H352L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,755,995 (GRCm39) |
V651A |
possibly damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,485,134 (GRCm39) |
L519Q |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cenpn |
G |
A |
8: 117,658,344 (GRCm39) |
D97N |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,873,753 (GRCm39) |
C576R |
probably benign |
Het |
| Col8a1 |
A |
T |
16: 57,447,730 (GRCm39) |
D593E |
unknown |
Het |
| Dsel |
C |
T |
1: 111,787,863 (GRCm39) |
E891K |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,150,689 (GRCm39) |
Y255H |
probably benign |
Het |
| Fzd6 |
C |
A |
15: 38,895,102 (GRCm39) |
L423M |
probably damaging |
Het |
| Fzd6 |
T |
G |
15: 38,895,103 (GRCm39) |
L423R |
probably damaging |
Het |
| Galntl6 |
G |
T |
8: 58,415,461 (GRCm39) |
L231I |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,518 (GRCm39) |
Y603H |
probably damaging |
Het |
| Hepacam |
A |
T |
9: 37,279,052 (GRCm39) |
Q27L |
probably benign |
Het |
| Hibadh |
C |
T |
6: 52,525,865 (GRCm39) |
V262I |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,771,962 (GRCm39) |
D227V |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,833,778 (GRCm39) |
L106P |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,952,613 (GRCm39) |
Q852L |
probably damaging |
Het |
| Jmy |
T |
A |
13: 93,601,209 (GRCm39) |
D399V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,371,855 (GRCm39) |
I332N |
probably benign |
Het |
| Lrrc23 |
T |
C |
6: 124,755,189 (GRCm39) |
K116R |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,805,716 (GRCm39) |
I1699N |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,413,965 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,258,158 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,455,316 (GRCm39) |
Q439R |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,621,003 (GRCm39) |
S216P |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,024 (GRCm39) |
H183Q |
probably benign |
Het |
| Reln |
A |
C |
5: 22,357,471 (GRCm39) |
S198R |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,471 (GRCm39) |
V875A |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,068,877 (GRCm39) |
S41G |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,258,864 (GRCm39) |
R1134G |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,872 (GRCm39) |
S213G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,078,613 (GRCm39) |
I1593V |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,151,349 (GRCm39) |
S850P |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,563,699 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 44,988,464 (GRCm39) |
F717L |
probably damaging |
Het |
| Zfp606 |
T |
A |
7: 12,227,935 (GRCm39) |
C685* |
probably null |
Het |
| Zfp764l1 |
T |
C |
7: 126,990,761 (GRCm39) |
T409A |
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 |
|
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 |
|
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'- TGAAAAGGGCTTTCCGCATG -3'
Sequencing Primer
(F):5'- TGTGGACAAGGCAAGGCTG -3'
(R):5'- ATGTCCATGGCCATGCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation