Incidental Mutation 'R1393:Abcf3'
| ID |
162716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcf3
|
| Ensembl Gene |
ENSMUSG00000003234 |
| Gene Name |
ATP-binding cassette, sub-family F member 3 |
| Synonyms |
|
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20379180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 682
(N682S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000148679]
[ENSMUST00000232680]
|
| AlphaFold |
Q8K268 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003319
AA Change: N682S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: N682S
| 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 benign
Transcript: ENSMUST00000148679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232680
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTGGACATGGAGACCATTGAAG -3'
(R):5'- TCCCCAAGTAGGGAAAGTCCTAAGC -3'
Sequencing Primer
(F):5'- TTTGGGCCAGGCTCTCAAC -3'
(R):5'- AGCTTGGAGTTGGTTGCCTAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation