Incidental Mutation 'R4633:Abcb6'
| ID |
349323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb6
|
| Ensembl Gene |
ENSMUSG00000026198 |
| Gene Name |
ATP-binding cassette, sub-family B member 6 |
| Synonyms |
1200005B17Rik |
| MMRRC Submission |
041898-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R4633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
75148361-75157036 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 75154426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027396]
[ENSMUST00000040689]
[ENSMUST00000161215]
[ENSMUST00000189665]
[ENSMUST00000189702]
[ENSMUST00000188347]
|
| AlphaFold |
Q9DC29 |
| 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 |
probably benign
Transcript: ENSMUST00000040689
|
| SMART Domains |
Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
173 |
530 |
3.4e-134 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161103
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000185727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189665
|
| SMART Domains |
Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189702
|
| SMART Domains |
Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188347
|
| SMART Domains |
Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
70 |
92 |
N/A |
INTRINSIC |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
Pfam:APG9
|
172 |
533 |
2.4e-140 |
PFAM |
|
low complexity region
|
588 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
621 |
N/A |
INTRINSIC |
|
Blast:HELICc
|
692 |
733 |
1e-13 |
BLAST |
|
low complexity region
|
734 |
755 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
95% (73/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,606,503 (GRCm39) |
L786Q |
probably null |
Het |
| Alg10b |
T |
C |
15: 90,112,497 (GRCm39) |
V447A |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| B4galt7 |
A |
G |
13: 55,756,563 (GRCm39) |
H203R |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,683,392 (GRCm39) |
D214A |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,845,014 (GRCm39) |
D275G |
probably benign |
Het |
| Cnot11 |
G |
T |
1: 39,575,299 (GRCm39) |
W127L |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,052,620 (GRCm39) |
I2168T |
probably damaging |
Het |
| Cyp3a59 |
T |
C |
5: 146,031,248 (GRCm39) |
F137S |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,209,515 (GRCm39) |
L1234Q |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,323,814 (GRCm39) |
I676N |
possibly damaging |
Het |
| Erlin1 |
G |
A |
19: 44,029,204 (GRCm39) |
R243C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,076,990 (GRCm39) |
L576P |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,805,865 (GRCm39) |
Y572* |
probably null |
Het |
| Glg1 |
C |
T |
8: 111,904,276 (GRCm39) |
|
probably null |
Het |
| Gpr139 |
A |
T |
7: 118,743,628 (GRCm39) |
I319N |
probably damaging |
Het |
| Hectd4 |
C |
A |
5: 121,487,279 (GRCm39) |
H3425N |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,555,020 (GRCm39) |
D118G |
possibly damaging |
Het |
| Klra13-ps |
T |
G |
6: 130,268,136 (GRCm39) |
|
noncoding transcript |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,042 (GRCm39) |
D225V |
probably damaging |
Het |
| Krtap4-9 |
G |
T |
11: 99,676,380 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,105,579 (GRCm39) |
A2029E |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,761 (GRCm39) |
T3473S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,509,957 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,036,424 (GRCm39) |
R910* |
probably null |
Het |
| Map1b |
C |
T |
13: 99,571,450 (GRCm39) |
V424M |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,197,737 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mylk2 |
T |
C |
2: 152,759,335 (GRCm39) |
S369P |
probably benign |
Het |
| Myom3 |
T |
G |
4: 135,503,010 (GRCm39) |
F362L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 45,699,684 (GRCm39) |
|
probably benign |
Het |
| Or10s1 |
T |
A |
9: 39,985,630 (GRCm39) |
V13E |
probably damaging |
Het |
| Or1p1 |
T |
G |
11: 74,180,120 (GRCm39) |
M216R |
probably benign |
Het |
| Or2l13b |
C |
T |
16: 19,349,034 (GRCm39) |
G212D |
possibly damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,398 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
C |
T |
14: 56,885,048 (GRCm39) |
L1376F |
unknown |
Het |
| Phykpl |
C |
A |
11: 51,484,435 (GRCm39) |
A208E |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,886,887 (GRCm39) |
F126S |
probably damaging |
Het |
| Polq |
T |
G |
16: 36,868,904 (GRCm39) |
M479R |
probably damaging |
Het |
| Prpf4b |
A |
G |
13: 35,084,425 (GRCm39) |
T938A |
probably damaging |
Het |
| Psma1 |
A |
G |
7: 113,870,369 (GRCm39) |
M63T |
probably damaging |
Het |
| Rbpms2 |
T |
C |
9: 65,558,918 (GRCm39) |
S174P |
probably benign |
Het |
| Rcc1 |
G |
T |
4: 132,063,080 (GRCm39) |
S162R |
probably damaging |
Het |
| Rev3l |
T |
G |
10: 39,722,182 (GRCm39) |
L2520R |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,085,443 (GRCm39) |
|
probably null |
Het |
| Rps19 |
G |
T |
7: 24,588,595 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenof |
C |
T |
3: 144,302,622 (GRCm39) |
R116* |
probably null |
Het |
| Slc16a11 |
T |
C |
11: 70,107,205 (GRCm39) |
|
probably null |
Het |
| Stk3 |
A |
G |
15: 34,959,074 (GRCm39) |
V296A |
probably damaging |
Het |
| Taar8b |
C |
A |
10: 23,968,150 (GRCm39) |
E15* |
probably null |
Het |
| Tas2r102 |
T |
A |
6: 132,739,642 (GRCm39) |
N183K |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,191,310 (GRCm39) |
E1041D |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,660 (GRCm39) |
V244A |
probably damaging |
Het |
| Trgc4 |
G |
T |
13: 19,536,457 (GRCm39) |
V172F |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,933,371 (GRCm39) |
I650K |
probably damaging |
Het |
| Trim59 |
G |
T |
3: 68,944,747 (GRCm39) |
Q198K |
probably benign |
Het |
| Ttc28 |
C |
T |
5: 111,371,867 (GRCm39) |
T772I |
probably damaging |
Het |
| Tvp23a |
C |
T |
16: 10,244,909 (GRCm39) |
V146M |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,428 (GRCm39) |
D11V |
possibly damaging |
Het |
| Usp48 |
A |
G |
4: 137,362,211 (GRCm39) |
K32R |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,151,202 (GRCm39) |
K801E |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,588,814 (GRCm39) |
I2452V |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,123,757 (GRCm39) |
L228P |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,987,024 (GRCm39) |
T158A |
probably benign |
Het |
| Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
| Zfp872 |
G |
T |
9: 22,108,490 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,768,891 (GRCm39) |
E1110G |
probably damaging |
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 |
|
R3105:Abcb6
|
UTSW |
1 |
75,151,687 (GRCm39) |
unclassified |
probably benign |
|
|
R4015:Abcb6
|
UTSW |
1 |
75,151,135 (GRCm39) |
splice site |
probably null |
|
|
R4604:Abcb6
|
UTSW |
1 |
75,156,521 (GRCm39) |
missense |
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'- CAAGACAGTGAGGGAGTTCC -3'
(R):5'- ATAGTGCTCATATGCCTGGGAC -3'
Sequencing Primer
(F):5'- TTCCCATGAGCGAGACTGATG -3'
(R):5'- AACGAGCACTCAATGTGTTGGTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation