Incidental Mutation 'IGL01570:Abcf3'
| ID |
91122 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abcf3
|
| Ensembl Gene |
ENSMUSG00000003234 |
| Gene Name |
ATP-binding cassette, sub-family F member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL01570
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20378748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 54
(S54P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000148679]
[ENSMUST00000232680]
|
| AlphaFold |
Q8K268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003319
AA Change: S612P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: S612P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
137 |
N/A |
INTRINSIC |
|
AAA
|
202 |
401 |
3.23e-11 |
SMART |
|
low complexity region
|
423 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
|
AAA
|
517 |
684 |
4.68e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135861
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148679
AA Change: S54P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232680
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,300,839 (GRCm39) |
V230A |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,361,394 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
G |
2: 155,809,583 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
A |
6: 8,014,540 (GRCm39) |
D955V |
probably damaging |
Het |
| Gm7676 |
A |
G |
8: 13,946,311 (GRCm39) |
|
noncoding transcript |
Het |
| Hao1 |
A |
G |
2: 134,396,120 (GRCm39) |
S45P |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,920,645 (GRCm39) |
I163L |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,372,809 (GRCm39) |
Y1510C |
possibly damaging |
Het |
| Itga4 |
G |
A |
2: 79,152,978 (GRCm39) |
|
probably null |
Het |
| Kif18b |
G |
A |
11: 102,803,217 (GRCm39) |
H498Y |
probably benign |
Het |
| Kin |
C |
T |
2: 10,096,763 (GRCm39) |
T204M |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,139,807 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,840,807 (GRCm39) |
T1009I |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,103,032 (GRCm39) |
S489P |
probably benign |
Het |
| Memo1 |
A |
G |
17: 74,524,103 (GRCm39) |
|
probably benign |
Het |
| Myocd |
T |
A |
11: 65,091,633 (GRCm39) |
H103L |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,219 (GRCm39) |
F273I |
possibly damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,625 (GRCm39) |
I173T |
probably damaging |
Het |
| Or1e26 |
C |
A |
11: 73,480,209 (GRCm39) |
M118I |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,480 (GRCm39) |
T160S |
probably benign |
Het |
| Pappa2 |
A |
C |
1: 158,642,110 (GRCm39) |
Y1315* |
probably null |
Het |
| Pdzk1ip1 |
C |
T |
4: 114,946,214 (GRCm39) |
P25S |
possibly damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,843 (GRCm39) |
V73D |
possibly damaging |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,388,738 (GRCm39) |
T266M |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,331,332 (GRCm39) |
C700G |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,924,829 (GRCm39) |
A724E |
probably damaging |
Het |
|
| Other mutations in Abcf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Abcf3
|
APN |
16 |
20,370,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02239:Abcf3
|
APN |
16 |
20,369,386 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0158:Abcf3
|
UTSW |
16 |
20,371,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Abcf3
|
UTSW |
16 |
20,378,918 (GRCm39) |
splice site |
probably null |
|
|
R0579:Abcf3
|
UTSW |
16 |
20,369,398 (GRCm39) |
missense |
probably benign |
|
|
R0671:Abcf3
|
UTSW |
16 |
20,369,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Abcf3
|
UTSW |
16 |
20,378,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1384:Abcf3
|
UTSW |
16 |
20,378,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Abcf3
|
UTSW |
16 |
20,379,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2356:Abcf3
|
UTSW |
16 |
20,379,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2910:Abcf3
|
UTSW |
16 |
20,378,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2911:Abcf3
|
UTSW |
16 |
20,378,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3081:Abcf3
|
UTSW |
16 |
20,378,114 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3852:Abcf3
|
UTSW |
16 |
20,379,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Abcf3
|
UTSW |
16 |
20,367,808 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4752:Abcf3
|
UTSW |
16 |
20,369,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Abcf3
|
UTSW |
16 |
20,370,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5672:Abcf3
|
UTSW |
16 |
20,368,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5817:Abcf3
|
UTSW |
16 |
20,367,833 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6013:Abcf3
|
UTSW |
16 |
20,369,311 (GRCm39) |
splice site |
probably null |
|
|
R6019:Abcf3
|
UTSW |
16 |
20,371,201 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6026:Abcf3
|
UTSW |
16 |
20,369,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Abcf3
|
UTSW |
16 |
20,368,484 (GRCm39) |
splice site |
probably null |
|
|
R7327:Abcf3
|
UTSW |
16 |
20,367,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7431:Abcf3
|
UTSW |
16 |
20,377,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7539:Abcf3
|
UTSW |
16 |
20,371,382 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7764:Abcf3
|
UTSW |
16 |
20,368,040 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8358:Abcf3
|
UTSW |
16 |
20,367,796 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8391:Abcf3
|
UTSW |
16 |
20,368,968 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8416:Abcf3
|
UTSW |
16 |
20,369,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8821:Abcf3
|
UTSW |
16 |
20,369,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Abcf3
|
UTSW |
16 |
20,369,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Abcf3
|
UTSW |
16 |
20,368,056 (GRCm39) |
missense |
probably benign |
|
|
R9160:Abcf3
|
UTSW |
16 |
20,379,246 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9501:Abcf3
|
UTSW |
16 |
20,379,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Abcf3
|
UTSW |
16 |
20,378,447 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2013-12-09 |
Incidental Mutation