Incidental Mutation 'R8130:Abcb10'
| ID |
631976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb10
|
| Ensembl Gene |
ENSMUSG00000031974 |
| Gene Name |
ATP-binding cassette, sub-family B member 10 |
| Synonyms |
ABC-me |
| MMRRC Submission |
067559-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8130 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124679198-124709861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124691757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 403
(A403T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075578]
[ENSMUST00000127664]
|
| AlphaFold |
Q9JI39 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: A403T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
136 |
407 |
1.7e-60 |
PFAM |
|
AAA
|
484 |
675 |
1.68e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
96% (52/54) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the ATP-binding cassette superfamily of transporters. ATP-binding cassette proteins transport various molecules across extra- and intra-cellular membranes. The encoded protein is localized to the mitochondrial inner membrane where it interacts with and stabilizes mitoferrin-1, and is important for heme biosynthesis. Additional evidence suggests the encoded protein is involved in oxidative stress protection and erythropoisesis. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased response to ischemia and reperfusion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,271 (GRCm39) |
I130M |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,678,170 (GRCm39) |
S218T |
possibly damaging |
Het |
| Armc8 |
C |
T |
9: 99,433,600 (GRCm39) |
V40I |
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,381 (GRCm39) |
D177V |
probably benign |
Het |
| Cdh8 |
A |
T |
8: 99,757,676 (GRCm39) |
F641I |
probably damaging |
Het |
| Cemip |
T |
C |
7: 83,596,384 (GRCm39) |
S1127G |
probably benign |
Het |
| Cmtm1 |
C |
A |
8: 105,036,088 (GRCm39) |
Q180H |
unknown |
Het |
| Col15a1 |
C |
T |
4: 47,312,196 (GRCm39) |
T1337I |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,910,284 (GRCm39) |
M555K |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,415,823 (GRCm39) |
F89L |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,917,199 (GRCm39) |
T76A |
probably benign |
Het |
| Dpep1 |
T |
C |
8: 123,926,965 (GRCm39) |
V263A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,114,358 (GRCm39) |
E1216K |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,052 (GRCm39) |
Y45C |
probably benign |
Het |
| Fam186a |
CGG |
CG |
15: 99,841,914 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
T |
A |
9: 77,971,816 (GRCm39) |
D252E |
probably benign |
Het |
| Gm11559 |
A |
G |
11: 99,755,416 (GRCm39) |
T22A |
unknown |
Het |
| Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
| Hypk |
A |
G |
2: 121,286,859 (GRCm39) |
|
probably benign |
Het |
| I830077J02Rik |
C |
T |
3: 105,834,233 (GRCm39) |
C64Y |
possibly damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,650 (GRCm39) |
I30V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,455,416 (GRCm39) |
I342V |
probably benign |
Het |
| Kcnip3 |
C |
T |
2: 127,352,828 (GRCm39) |
A64T |
possibly damaging |
Het |
| Kdm5d |
T |
A |
Y: 940,658 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Kif19b |
C |
T |
5: 140,460,716 (GRCm39) |
R461C |
probably damaging |
Het |
| Krtap19-2 |
C |
T |
16: 88,670,903 (GRCm39) |
G81R |
unknown |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,629,965 (GRCm39) |
I69N |
|
Het |
| Matcap1 |
G |
A |
8: 106,012,145 (GRCm39) |
R101W |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,299,293 (GRCm39) |
D1914N |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,937,707 (GRCm39) |
Q235L |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,699,111 (GRCm39) |
K185* |
probably null |
Het |
| Muc6 |
T |
C |
7: 141,233,354 (GRCm39) |
T802A |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,005,073 (GRCm39) |
F130L |
probably damaging |
Het |
| Nemf |
A |
T |
12: 69,402,826 (GRCm39) |
M70K |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,280,240 (GRCm39) |
I436T |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 59,015,439 (GRCm39) |
R1011M |
probably damaging |
Het |
| Or4k44 |
A |
T |
2: 111,367,825 (GRCm39) |
F270I |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,901,570 (GRCm39) |
K303E |
probably benign |
Het |
| Or8k24 |
T |
A |
2: 86,215,911 (GRCm39) |
M284L |
probably benign |
Het |
| Ormdl1 |
T |
A |
1: 53,338,139 (GRCm39) |
M1K |
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,784,597 (GRCm39) |
L289Q |
probably damaging |
Het |
| Psmb3 |
A |
G |
11: 97,594,723 (GRCm39) |
D38G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,792,026 (GRCm39) |
L1171Q |
probably damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,052,911 (GRCm39) |
V379I |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,392,240 (GRCm39) |
F1632L |
probably damaging |
Het |
| Taok1 |
G |
A |
11: 77,470,659 (GRCm39) |
R49C |
possibly damaging |
Het |
| Ttll6 |
T |
C |
11: 96,047,425 (GRCm39) |
S675P |
probably benign |
Het |
| Usp8 |
A |
T |
2: 126,559,918 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,110,538 (GRCm39) |
N550K |
possibly damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,971 (GRCm39) |
C291S |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,544,313 (GRCm39) |
G404C |
probably damaging |
Het |
| Zfp934 |
C |
A |
13: 62,667,985 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Abcb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Abcb10
|
APN |
8 |
124,681,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02279:Abcb10
|
APN |
8 |
124,681,100 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02302:Abcb10
|
APN |
8 |
124,685,411 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02342:Abcb10
|
APN |
8 |
124,688,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Abcb10
|
APN |
8 |
124,681,054 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03409:Abcb10
|
APN |
8 |
124,691,762 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0320:Abcb10
|
UTSW |
8 |
124,689,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0436:Abcb10
|
UTSW |
8 |
124,697,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1074:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1225:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1254:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1255:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Abcb10
|
UTSW |
8 |
124,688,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2096:Abcb10
|
UTSW |
8 |
124,709,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:Abcb10
|
UTSW |
8 |
124,691,831 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2274:Abcb10
|
UTSW |
8 |
124,709,491 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4801:Abcb10
|
UTSW |
8 |
124,693,266 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4802:Abcb10
|
UTSW |
8 |
124,693,266 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4850:Abcb10
|
UTSW |
8 |
124,709,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5320:Abcb10
|
UTSW |
8 |
124,697,763 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5947:Abcb10
|
UTSW |
8 |
124,694,737 (GRCm39) |
splice site |
probably null |
|
|
R6006:Abcb10
|
UTSW |
8 |
124,694,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6328:Abcb10
|
UTSW |
8 |
124,688,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7168:Abcb10
|
UTSW |
8 |
124,693,350 (GRCm39) |
missense |
|
|
|
R8131:Abcb10
|
UTSW |
8 |
124,691,757 (GRCm39) |
missense |
|
|
|
R8132:Abcb10
|
UTSW |
8 |
124,691,757 (GRCm39) |
missense |
|
|
|
R8431:Abcb10
|
UTSW |
8 |
124,694,873 (GRCm39) |
missense |
|
|
|
R9111:Abcb10
|
UTSW |
8 |
124,696,646 (GRCm39) |
missense |
|
|
|
R9258:Abcb10
|
UTSW |
8 |
124,709,347 (GRCm39) |
missense |
probably benign |
|
|
R9423:Abcb10
|
UTSW |
8 |
124,688,819 (GRCm39) |
missense |
|
|
|
V7581:Abcb10
|
UTSW |
8 |
124,696,500 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Abcb10
|
UTSW |
8 |
124,709,402 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGGCTGGGAAACACAG -3'
(R):5'- GCCGAGATCTAGTTTATACTCTTGTCC -3'
Sequencing Primer
(F):5'- TCCTAAGCTGTGGGAGGACAC -3'
(R):5'- TTGTCCCAAGAAGCCTTCGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation