Incidental Mutation 'R3105:Abcb6'
| ID |
262990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
040579-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R3105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 75151687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027394]
[ENSMUST00000027396]
[ENSMUST00000160439]
[ENSMUST00000161215]
[ENSMUST00000162768]
|
| AlphaFold |
Q9DC29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027394
|
| SMART Domains |
Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
|
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
|
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027396
|
| SMART Domains |
Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTABC_N
|
6 |
255 |
7.8e-80 |
PFAM |
|
Pfam:ABC_membrane
|
265 |
544 |
3.7e-34 |
PFAM |
|
AAA
|
615 |
816 |
1.29e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160282
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160439
|
| SMART Domains |
Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
|
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
|
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161215
|
| SMART Domains |
Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jj7a_
|
5 |
78 |
8e-23 |
SMART |
|
Blast:AAA
|
23 |
71 |
9e-25 |
BLAST |
|
PDB:3NHB|A
|
23 |
94 |
3e-36 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162768
|
| SMART Domains |
Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
|
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
|
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2)
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,931 (GRCm39) |
V176A |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,281 (GRCm39) |
S242R |
possibly damaging |
Het |
| Baz2a |
AGCGGCGGTACTTGCGGG |
AG |
10: 127,960,946 (GRCm39) |
|
probably null |
Het |
| Ccdc163 |
C |
A |
4: 116,566,697 (GRCm39) |
Q58K |
probably benign |
Het |
| Ccdc191 |
T |
C |
16: 43,751,573 (GRCm39) |
F301S |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,744,024 (GRCm39) |
R515G |
probably damaging |
Het |
| Dgkg |
T |
A |
16: 22,394,091 (GRCm39) |
T321S |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,040,018 (GRCm39) |
C138* |
probably null |
Het |
| Dnaja2 |
G |
A |
8: 86,281,857 (GRCm39) |
T7M |
probably damaging |
Het |
| Ezh1 |
A |
C |
11: 101,086,468 (GRCm39) |
C575W |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,698,754 (GRCm39) |
Q463H |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,034,628 (GRCm39) |
D142G |
probably benign |
Het |
| Gm8730 |
T |
C |
8: 103,591,895 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,717,916 (GRCm39) |
S388R |
probably benign |
Het |
| Il1rap |
A |
G |
16: 26,541,502 (GRCm39) |
E581G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,331,394 (GRCm39) |
Y1585H |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,958,636 (GRCm39) |
V483A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,472,756 (GRCm39) |
|
probably null |
Het |
| Or4a78 |
T |
C |
2: 89,497,302 (GRCm39) |
I309M |
probably benign |
Het |
| Osgep |
T |
C |
14: 51,154,286 (GRCm39) |
T225A |
probably benign |
Het |
| Otof |
A |
G |
5: 30,539,145 (GRCm39) |
Y1090H |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,958,397 (GRCm39) |
F801L |
probably benign |
Het |
| Pomk |
A |
C |
8: 26,472,942 (GRCm39) |
L337R |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,096,520 (GRCm39) |
S675T |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Sars1 |
C |
T |
3: 108,336,621 (GRCm39) |
R302H |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,806 (GRCm39) |
E24G |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,328,433 (GRCm39) |
P1194L |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,539,753 (GRCm39) |
C847Y |
probably damaging |
Het |
| Slc22a29 |
T |
C |
19: 8,147,337 (GRCm39) |
T342A |
probably benign |
Het |
| Spaca1 |
G |
A |
4: 34,028,468 (GRCm39) |
T283M |
probably damaging |
Het |
| Stradb |
C |
A |
1: 59,031,450 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Taf6l |
C |
T |
19: 8,756,219 (GRCm39) |
S208N |
probably damaging |
Het |
| Tkfc |
G |
T |
19: 10,574,357 (GRCm39) |
C198* |
probably null |
Het |
| Tm4sf4 |
C |
T |
3: 57,345,043 (GRCm39) |
R150C |
possibly damaging |
Het |
| Tmem212 |
T |
C |
3: 27,939,019 (GRCm39) |
S156G |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,801,124 (GRCm39) |
T204A |
possibly damaging |
Het |
| Tsga10 |
G |
A |
1: 37,840,872 (GRCm39) |
L445F |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,592,331 (GRCm39) |
V310I |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,777,109 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abcb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02836:Abcb6
|
APN |
1 |
75,154,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
1mM(1):Abcb6
|
UTSW |
1 |
75,148,755 (GRCm39) |
unclassified |
probably benign |
|
|
R0035:Abcb6
|
UTSW |
1 |
75,151,651 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0699:Abcb6
|
UTSW |
1 |
75,148,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1470:Abcb6
|
UTSW |
1 |
75,149,323 (GRCm39) |
unclassified |
probably benign |
|
|
R1595:Abcb6
|
UTSW |
1 |
75,153,944 (GRCm39) |
splice site |
probably null |
|
|
R1912:Abcb6
|
UTSW |
1 |
75,156,599 (GRCm39) |
missense |
probably benign |
|
|
R2078:Abcb6
|
UTSW |
1 |
75,148,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Abcb6
|
UTSW |
1 |
75,151,135 (GRCm39) |
splice site |
probably null |
|
|
R4604:Abcb6
|
UTSW |
1 |
75,156,521 (GRCm39) |
missense |
probably benign |
|
|
R4633:Abcb6
|
UTSW |
1 |
75,154,426 (GRCm39) |
unclassified |
probably benign |
|
|
R4748:Abcb6
|
UTSW |
1 |
75,154,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Abcb6
|
UTSW |
1 |
75,154,556 (GRCm39) |
unclassified |
probably benign |
|
|
R5654:Abcb6
|
UTSW |
1 |
75,151,479 (GRCm39) |
splice site |
probably null |
|
|
R5841:Abcb6
|
UTSW |
1 |
75,150,994 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6275:Abcb6
|
UTSW |
1 |
75,149,195 (GRCm39) |
splice site |
probably null |
|
|
R6527:Abcb6
|
UTSW |
1 |
75,154,132 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7188:Abcb6
|
UTSW |
1 |
75,150,781 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7278:Abcb6
|
UTSW |
1 |
75,151,017 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7451:Abcb6
|
UTSW |
1 |
75,148,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Abcb6
|
UTSW |
1 |
75,150,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Abcb6
|
UTSW |
1 |
75,154,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7640:Abcb6
|
UTSW |
1 |
75,151,489 (GRCm39) |
splice site |
probably null |
|
|
R7883:Abcb6
|
UTSW |
1 |
75,154,660 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7982:Abcb6
|
UTSW |
1 |
75,150,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Abcb6
|
UTSW |
1 |
75,151,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Abcb6
|
UTSW |
1 |
75,156,653 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8155:Abcb6
|
UTSW |
1 |
75,151,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8309:Abcb6
|
UTSW |
1 |
75,149,588 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9087:Abcb6
|
UTSW |
1 |
75,150,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9599:Abcb6
|
UTSW |
1 |
75,151,372 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9723:Abcb6
|
UTSW |
1 |
75,156,366 (GRCm39) |
missense |
probably benign |
|
|
X0009:Abcb6
|
UTSW |
1 |
75,151,197 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Abcb6
|
UTSW |
1 |
75,152,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCACTCCAAACCCTAGGG -3'
(R):5'- TGAAACGGTAACAGTCGCCC -3'
Sequencing Primer
(F):5'- GCCCAGGTGGTCAACTAC -3'
(R):5'- CAGGTGGATCTCTCTCAGTTCAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation