Incidental Mutation 'R2911:Abcf3'
ID |
261268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcf3
|
Ensembl Gene |
ENSMUSG00000003234 |
Gene Name |
ATP-binding cassette, sub-family F member 3 |
Synonyms |
|
MMRRC Submission |
040498-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R2911 (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 20378982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 645
(T645A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003319
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003319]
[ENSMUST00000148679]
[ENSMUST00000232680]
|
AlphaFold |
Q8K268 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003319
AA Change: T645A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000003319 Gene: ENSMUSG00000003234 AA Change: T645A
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 |
possibly damaging
Transcript: ENSMUST00000148679
AA Change: T87A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154660
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231258
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232680
|
Meta Mutation Damage Score |
0.2029 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
Dzip1l |
T |
C |
9: 99,537,655 (GRCm39) |
V419A |
probably benign |
Het |
Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
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 |
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 |
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'- TTGCTCAGATGACCATGCCTTG -3'
(R):5'- TGACACTGCCGTTCTCACAC -3'
Sequencing Primer
(F):5'- CCATGCCTTGGTGAGTCTATG -3'
(R):5'- AGCTCCTTGCACACCAGTCG -3'
|
Posted On |
2015-01-23 |