Incidental Mutation 'R4752:Abcf3'
ID |
357700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcf3
|
Ensembl Gene |
ENSMUSG00000003234 |
Gene Name |
ATP-binding cassette, sub-family F member 3 |
Synonyms |
|
MMRRC Submission |
042032-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R4752 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20369326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 236
(E236G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000232680]
[ENSMUST00000232490]
|
AlphaFold |
Q8K268 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003319
AA Change: E242G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003319 Gene: ENSMUSG00000003234 AA Change: E242G
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 |
probably damaging
Transcript: ENSMUST00000232680
AA Change: E236G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232127
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232490
|
Meta Mutation Damage Score |
0.8992 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,775,751 (GRCm39) |
Q1647K |
possibly damaging |
Het |
Adamts17 |
A |
G |
7: 66,654,218 (GRCm39) |
T483A |
probably damaging |
Het |
Ankrd26 |
G |
T |
6: 118,517,426 (GRCm39) |
P465Q |
probably null |
Het |
Babam2 |
C |
T |
5: 31,859,391 (GRCm39) |
|
probably benign |
Het |
Bpifb1 |
T |
A |
2: 154,058,200 (GRCm39) |
|
probably benign |
Het |
Ccnb1ip1 |
T |
A |
14: 51,031,122 (GRCm39) |
T64S |
possibly damaging |
Het |
Cdhr3 |
A |
G |
12: 33,136,102 (GRCm39) |
V46A |
probably damaging |
Het |
Cep170 |
A |
T |
1: 176,584,254 (GRCm39) |
D708E |
probably benign |
Het |
Cpsf6 |
A |
T |
10: 117,197,273 (GRCm39) |
|
probably benign |
Het |
Cryzl2 |
C |
T |
1: 157,286,219 (GRCm39) |
|
probably null |
Het |
Dgka |
A |
T |
10: 128,572,528 (GRCm39) |
F42I |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,112,491 (GRCm39) |
V1059E |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dock4 |
T |
A |
12: 40,496,364 (GRCm39) |
I3K |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
Eif2b4 |
G |
A |
5: 31,348,575 (GRCm39) |
R213* |
probably null |
Het |
Eif3b |
A |
G |
5: 140,426,856 (GRCm39) |
D704G |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,437,197 (GRCm39) |
E125G |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,434,153 (GRCm39) |
N412S |
probably benign |
Het |
Fbln2 |
A |
G |
6: 91,233,225 (GRCm39) |
M570V |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,725 (GRCm39) |
|
probably benign |
Het |
Hook2 |
C |
T |
8: 85,729,349 (GRCm39) |
Q632* |
probably null |
Het |
Ipcef1 |
A |
T |
10: 6,929,573 (GRCm39) |
W56R |
probably damaging |
Het |
Krt78 |
T |
C |
15: 101,856,637 (GRCm39) |
I418M |
probably benign |
Het |
Limk1 |
G |
A |
5: 134,699,295 (GRCm39) |
T154I |
probably damaging |
Het |
Lyl1 |
A |
T |
8: 85,430,910 (GRCm39) |
T271S |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,336,895 (GRCm39) |
I333V |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,565,259 (GRCm39) |
T236A |
probably benign |
Het |
Nbas |
A |
G |
12: 13,532,538 (GRCm39) |
T1749A |
possibly damaging |
Het |
Nfib |
T |
A |
4: 82,215,016 (GRCm39) |
Q529L |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nisch |
A |
T |
14: 30,914,545 (GRCm39) |
F42L |
probably damaging |
Het |
Nomo1 |
T |
A |
7: 45,706,626 (GRCm39) |
Y547N |
probably damaging |
Het |
Or10g3 |
C |
T |
14: 52,609,764 (GRCm39) |
V249I |
probably damaging |
Het |
Or13a24 |
T |
C |
7: 140,154,515 (GRCm39) |
S150P |
possibly damaging |
Het |
Or5l14 |
A |
G |
2: 87,792,693 (GRCm39) |
L181P |
probably damaging |
Het |
Or8g51 |
T |
C |
9: 38,609,266 (GRCm39) |
Y136C |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,709,563 (GRCm39) |
N117I |
probably damaging |
Het |
Prkn |
T |
C |
17: 12,223,010 (GRCm39) |
S387P |
probably benign |
Het |
Prl3c1 |
A |
T |
13: 27,387,508 (GRCm39) |
K164N |
probably benign |
Het |
Prr23a3 |
T |
A |
9: 98,747,700 (GRCm39) |
L218Q |
probably damaging |
Het |
Prss43 |
A |
G |
9: 110,656,836 (GRCm39) |
H114R |
possibly damaging |
Het |
Ptcd3 |
A |
T |
6: 71,878,296 (GRCm39) |
M142K |
probably damaging |
Het |
Shisa7 |
G |
A |
7: 4,837,249 (GRCm39) |
T89I |
possibly damaging |
Het |
Slco1a1 |
C |
T |
6: 141,892,340 (GRCm39) |
A9T |
possibly damaging |
Het |
Srcap |
C |
T |
7: 127,158,172 (GRCm39) |
|
probably benign |
Het |
Tdg-ps |
G |
A |
15: 82,400,572 (GRCm39) |
|
noncoding transcript |
Het |
Tgm4 |
A |
G |
9: 122,880,451 (GRCm39) |
D284G |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,804,013 (GRCm39) |
I355F |
probably benign |
Het |
Tmem121b |
A |
T |
6: 120,469,995 (GRCm39) |
F241I |
possibly damaging |
Het |
Tmem200c |
T |
A |
17: 69,149,235 (GRCm39) |
V606E |
probably benign |
Het |
Ttc39c |
A |
G |
18: 12,861,782 (GRCm39) |
K370R |
probably benign |
Het |
Vmn2r87 |
G |
A |
10: 130,314,336 (GRCm39) |
Q417* |
probably null |
Het |
Vps45 |
T |
C |
3: 95,955,699 (GRCm39) |
Y97C |
possibly damaging |
Het |
Zfp407 |
A |
G |
18: 84,581,039 (GRCm39) |
S25P |
probably benign |
Het |
Zfp566 |
A |
G |
7: 29,777,306 (GRCm39) |
S292P |
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 |
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 |
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'- AGCTGTGTTTCTAGATGATTCTTCAT -3'
(R):5'- TACGGAGACACTATCTAAGGGACAG -3'
Sequencing Primer
(F):5'- ATCTCTCTTTCTTACCACCCCTTCAG -3'
(R):5'- ACTTCTGAGTTCAAGGCCAG -3'
|
Posted On |
2015-11-11 |