Incidental Mutation 'IGL00972:Abcf3'
| ID |
29194 |
| 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 # |
IGL00972
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20370434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 320
(M320L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000232680]
[ENSMUST00000232490]
|
| AlphaFold |
Q8K268 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003319
AA Change: M320L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: M320L
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000232127
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232680
AA Change: M314L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232490
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,484 (GRCm39) |
F23L |
probably damaging |
Het |
| Adam4 |
A |
T |
12: 81,467,423 (GRCm39) |
H399Q |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,631,660 (GRCm39) |
K140E |
probably damaging |
Het |
| Atg2a |
G |
A |
19: 6,304,629 (GRCm39) |
C1162Y |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,850,906 (GRCm39) |
I34N |
probably damaging |
Het |
| Bin1 |
A |
T |
18: 32,557,887 (GRCm39) |
E260V |
probably benign |
Het |
| Birc2 |
G |
A |
9: 7,833,716 (GRCm39) |
S255L |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,902,249 (GRCm39) |
Q502R |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,262 (GRCm39) |
V1584A |
probably benign |
Het |
| Commd3 |
A |
T |
2: 18,679,476 (GRCm39) |
R120S |
probably benign |
Het |
| Cyp39a1 |
A |
T |
17: 44,012,434 (GRCm39) |
I304L |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,716,534 (GRCm39) |
M352K |
possibly damaging |
Het |
| Dna2 |
T |
C |
10: 62,786,602 (GRCm39) |
Y117H |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,060,140 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,221,420 (GRCm39) |
P685L |
probably benign |
Het |
| Efna5 |
T |
A |
17: 62,920,374 (GRCm39) |
I168L |
possibly damaging |
Het |
| Ephx1 |
A |
G |
1: 180,827,365 (GRCm39) |
F96S |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,127,784 (GRCm39) |
I560K |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,992 (GRCm39) |
I210N |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,071,781 (GRCm39) |
V96A |
probably damaging |
Het |
| Gabra1 |
T |
G |
11: 42,024,453 (GRCm39) |
E407D |
probably benign |
Het |
| Gm5277 |
A |
T |
3: 78,799,593 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M10.5 |
A |
T |
17: 37,084,227 (GRCm39) |
E63V |
possibly damaging |
Het |
| Icam5 |
T |
A |
9: 20,945,993 (GRCm39) |
V275E |
probably damaging |
Het |
| Kel |
G |
A |
6: 41,665,000 (GRCm39) |
A588V |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,883,568 (GRCm39) |
E96D |
probably damaging |
Het |
| Limd1 |
C |
T |
9: 123,309,141 (GRCm39) |
T280I |
probably benign |
Het |
| Mul1 |
C |
A |
4: 138,165,628 (GRCm39) |
S95* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,156,473 (GRCm39) |
S733P |
probably benign |
Het |
| Ntn1 |
T |
A |
11: 68,104,098 (GRCm39) |
I517F |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 77,897,070 (GRCm39) |
M656L |
possibly damaging |
Het |
| Oacyl |
T |
G |
18: 65,858,572 (GRCm39) |
L226R |
possibly damaging |
Het |
| Or1ad6 |
A |
T |
11: 50,859,946 (GRCm39) |
M34L |
probably benign |
Het |
| Or4f61 |
A |
T |
2: 111,922,439 (GRCm39) |
N202K |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,829 (GRCm39) |
I49T |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,416,885 (GRCm39) |
L486* |
probably null |
Het |
| Pla2g4c |
A |
G |
7: 13,074,583 (GRCm39) |
Y253C |
probably benign |
Het |
| Rims3 |
C |
A |
4: 120,748,583 (GRCm39) |
A268E |
probably benign |
Het |
| Rpl12 |
T |
C |
2: 32,853,759 (GRCm39) |
I129T |
probably benign |
Het |
| Rsl1 |
A |
T |
13: 67,329,862 (GRCm39) |
K103N |
probably benign |
Het |
| Scn11a |
A |
T |
9: 119,623,004 (GRCm39) |
W612R |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,745,210 (GRCm39) |
T695M |
possibly damaging |
Het |
| Slc17a1 |
T |
A |
13: 24,062,437 (GRCm39) |
|
probably benign |
Het |
| Stam |
A |
T |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
G |
3: 134,638,116 (GRCm39) |
N424K |
probably benign |
Het |
| Tas1r2 |
C |
T |
4: 139,387,347 (GRCm39) |
R240W |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,040,637 (GRCm39) |
R648G |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,860,596 (GRCm39) |
I250V |
probably null |
Het |
| Tspan8 |
C |
T |
10: 115,680,044 (GRCm39) |
|
probably benign |
Het |
| Vmn1r128 |
A |
G |
7: 21,084,001 (GRCm39) |
E235G |
probably benign |
Het |
| Vmn1r220 |
A |
G |
13: 23,368,558 (GRCm39) |
L46P |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,903 (GRCm39) |
E122G |
probably benign |
Het |
| Zfp27 |
A |
T |
7: 29,594,383 (GRCm39) |
N527K |
probably damaging |
Het |
|
| Other mutations in Abcf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation