Incidental Mutation 'IGL02239:Abcf3'
| ID |
286019 |
| 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: 0.116)
|
| Stock # |
IGL02239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20369386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 262
(E262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000232680]
[ENSMUST00000232490]
|
| AlphaFold |
Q8K268 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003319
AA Change: E262G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: E262G
| 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: ENSMUST00000119553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231978
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232680
AA Change: E256G
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232127
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
| Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,388,905 (GRCm39) |
I168T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
| Galm |
A |
G |
17: 80,452,467 (GRCm39) |
D135G |
probably damaging |
Het |
| Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
| Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
| Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
| Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
| Qrsl1 |
G |
A |
10: 43,770,596 (GRCm39) |
P99S |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,046 (GRCm39) |
D343G |
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,917,982 (GRCm39) |
I575F |
probably benign |
Het |
| Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
| Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
|
IGL01570:Abcf3
|
APN |
16 |
20,378,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation