Incidental Mutation 'R5627:Abcb8'
| ID |
441881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb8
|
| Ensembl Gene |
ENSMUSG00000028973 |
| Gene Name |
ATP-binding cassette, sub-family B member 8 |
| Synonyms |
4833412N02Rik |
| MMRRC Submission |
043166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R5627 (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: 98.8%
- 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
| Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
| Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
| Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
| Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
| Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
| Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
| Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,821,942 (GRCm39) |
T259A |
possibly damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
| Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
| Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
| Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
| Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
| Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
| Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
| Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
| Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
| Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
| Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
| Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
| Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
| Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
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 |
|
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'- ATTTGAAGGACAGCCAGGC -3'
(R):5'- TGCACAGGTTATCCCGATGC -3'
Sequencing Primer
(F):5'- AGGCCCACAGCTGTCAATG -3'
(R):5'- AGGTTATCCCGATGCCCCAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation