Incidental Mutation 'R1384:Abcf3'
ID |
163187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcf3
|
Ensembl Gene |
ENSMUSG00000003234 |
Gene Name |
ATP-binding cassette, sub-family F member 3 |
Synonyms |
|
MMRRC Submission |
039446-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R1384 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20367327-20380129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20378053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 522
(G522R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000148679]
[ENSMUST00000232680]
|
AlphaFold |
Q8K268 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003319
AA Change: G528R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003319 Gene: ENSMUSG00000003234 AA Change: G528R
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 |
unknown
Transcript: ENSMUST00000231258
AA Change: G150R
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232680
AA Change: G522R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9751 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930408O17Rik |
G |
A |
12: 104,837,451 (GRCm39) |
|
noncoding transcript |
Het |
A930033H14Rik |
A |
G |
10: 69,048,191 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Alg10b |
A |
G |
15: 90,111,785 (GRCm39) |
K210E |
possibly damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
C9 |
G |
A |
15: 6,488,415 (GRCm39) |
V90I |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,022,709 (GRCm39) |
I634V |
probably benign |
Het |
Catip |
A |
G |
1: 74,403,522 (GRCm39) |
D153G |
probably benign |
Het |
Cpt1c |
G |
A |
7: 44,610,348 (GRCm39) |
|
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,002,102 (GRCm39) |
S296P |
probably damaging |
Het |
Cyp2d41-ps |
G |
A |
15: 82,663,718 (GRCm39) |
|
noncoding transcript |
Het |
Edc4 |
T |
A |
8: 106,619,014 (GRCm39) |
I1327N |
probably damaging |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Filip1l |
A |
G |
16: 57,391,652 (GRCm39) |
K509E |
possibly damaging |
Het |
Golga4 |
A |
G |
9: 118,394,719 (GRCm39) |
E96G |
probably damaging |
Het |
Grid2ip |
T |
G |
5: 143,371,851 (GRCm39) |
|
probably null |
Het |
Gucy1a2 |
A |
C |
9: 3,759,620 (GRCm39) |
E475D |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,666,090 (GRCm39) |
|
probably benign |
Het |
Ica1 |
G |
A |
6: 8,742,262 (GRCm39) |
Q124* |
probably null |
Het |
Igsf3 |
T |
C |
3: 101,358,612 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
G |
15: 34,409,956 (GRCm39) |
E462G |
probably benign |
Het |
Men1 |
T |
C |
19: 6,389,921 (GRCm39) |
S464P |
probably benign |
Het |
Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,364,014 (GRCm39) |
M492T |
possibly damaging |
Het |
Nhsl1 |
A |
T |
10: 18,284,261 (GRCm39) |
K67N |
probably null |
Het |
Nostrin |
A |
G |
2: 69,019,406 (GRCm39) |
R484G |
probably benign |
Het |
Or8g22 |
T |
A |
9: 38,958,200 (GRCm39) |
I172F |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,923,119 (GRCm39) |
|
probably benign |
Het |
P2rx5 |
A |
G |
11: 73,058,716 (GRCm39) |
Y300C |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,115,401 (GRCm39) |
|
probably benign |
Het |
Pld3 |
A |
G |
7: 27,237,082 (GRCm39) |
S266P |
probably benign |
Het |
Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
Prss43 |
A |
G |
9: 110,656,510 (GRCm39) |
I66V |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
Slc45a2 |
A |
G |
15: 11,025,832 (GRCm39) |
Y394C |
probably benign |
Het |
Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,534,155 (GRCm39) |
S160G |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,724,318 (GRCm39) |
K129R |
probably benign |
Het |
Tfr2 |
T |
C |
5: 137,585,082 (GRCm39) |
|
probably benign |
Het |
Thap12 |
T |
C |
7: 98,352,645 (GRCm39) |
S17P |
probably damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,702,166 (GRCm39) |
F200L |
probably benign |
Het |
Tspyl5 |
T |
A |
15: 33,687,526 (GRCm39) |
R140W |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,606,002 (GRCm39) |
D18236G |
probably damaging |
Het |
Upf2 |
G |
A |
2: 5,965,800 (GRCm39) |
R140Q |
unknown |
Het |
Vps4a |
T |
A |
8: 107,763,276 (GRCm39) |
I10N |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTGAACAGGCGTGGATTGG -3'
(R):5'- GCACAACTGTGAAGTAGTATAGGCAGC -3'
Sequencing Primer
(F):5'- gcaagttaaaagtaccttctgcc -3'
(R):5'- CATACAGTTCATGGGGGGAATCC -3'
|
Posted On |
2014-03-17 |