Incidental Mutation 'R0007:Abcf1'
| ID |
212470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcf1
|
| Ensembl Gene |
ENSMUSG00000038762 |
| Gene Name |
ATP-binding cassette, sub-family F member 1 |
| Synonyms |
Abc50, D17Wsu166e, GCN20 |
| MMRRC Submission |
038302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0007 (G1)
|
| Quality Score |
73 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36267711-36280642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36270562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 543
(Y543N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043757]
[ENSMUST00000172661]
[ENSMUST00000174128]
|
| AlphaFold |
Q6P542 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043757
AA Change: Y543N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: Y543N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
coiled coil region
|
46 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
255 |
N/A |
INTRINSIC |
|
AAA
|
320 |
524 |
9e-10 |
SMART |
|
low complexity region
|
529 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
607 |
615 |
N/A |
INTRINSIC |
|
AAA
|
642 |
807 |
1.11e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174834
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174128
|
| Meta Mutation Damage Score |
0.4883 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display lethality shortly after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,150,772 (GRCm39) |
|
probably null |
Het |
| AI504432 |
T |
A |
3: 106,956,152 (GRCm39) |
|
noncoding transcript |
Het |
| Cd82 |
T |
C |
2: 93,264,226 (GRCm39) |
N39S |
probably benign |
Het |
| Cntnap2 |
A |
C |
6: 45,969,007 (GRCm39) |
N250H |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,471 (GRCm39) |
V973A |
unknown |
Het |
| Cyp2c66 |
T |
A |
19: 39,159,402 (GRCm39) |
C284* |
probably null |
Het |
| Denr |
T |
A |
5: 124,062,877 (GRCm39) |
Y127N |
probably damaging |
Het |
| Diaph3 |
C |
A |
14: 87,104,056 (GRCm39) |
R776L |
possibly damaging |
Het |
| Gm5600 |
T |
A |
7: 113,307,010 (GRCm39) |
|
noncoding transcript |
Het |
| Hephl1 |
A |
T |
9: 14,997,471 (GRCm39) |
D398E |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,630,938 (GRCm39) |
|
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,723,449 (GRCm39) |
F154L |
probably benign |
Het |
| Myo1b |
T |
A |
1: 51,815,413 (GRCm39) |
R650S |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,840,574 (GRCm38) |
H153Q |
probably benign |
Het |
| Nelfe |
A |
G |
17: 35,072,962 (GRCm39) |
|
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,250,515 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,048,153 (GRCm39) |
S653P |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,122,420 (GRCm39) |
S246P |
probably damaging |
Het |
| Or8b101 |
A |
T |
9: 38,020,390 (GRCm39) |
Y131F |
possibly damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,632,225 (GRCm39) |
G314C |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,033,401 (GRCm39) |
S393P |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,230 (GRCm39) |
A60T |
probably damaging |
Het |
| Slc4a4 |
G |
A |
5: 89,186,437 (GRCm39) |
D173N |
probably damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,946 (GRCm39) |
Q523L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,806,473 (GRCm39) |
Y63H |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,719,944 (GRCm39) |
M84V |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,893 (GRCm39) |
A1453T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,710,548 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Abcf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01405:Abcf1
|
APN |
17 |
36,274,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Abcf1
|
APN |
17 |
36,272,954 (GRCm39) |
missense |
probably benign |
|
|
IGL02209:Abcf1
|
APN |
17 |
36,274,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02218:Abcf1
|
APN |
17 |
36,269,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02455:Abcf1
|
APN |
17 |
36,271,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03238:Abcf1
|
APN |
17 |
36,274,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
bamboo
|
UTSW |
17 |
36,268,954 (GRCm39) |
splice site |
probably benign |
|
|
IGL02837:Abcf1
|
UTSW |
17 |
36,268,473 (GRCm39) |
missense |
probably benign |
|
|
R0078:Abcf1
|
UTSW |
17 |
36,268,954 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Abcf1
|
UTSW |
17 |
36,272,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Abcf1
|
UTSW |
17 |
36,268,737 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1421:Abcf1
|
UTSW |
17 |
36,271,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Abcf1
|
UTSW |
17 |
36,272,704 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3433:Abcf1
|
UTSW |
17 |
36,269,109 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3915:Abcf1
|
UTSW |
17 |
36,270,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4056:Abcf1
|
UTSW |
17 |
36,270,807 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4057:Abcf1
|
UTSW |
17 |
36,270,807 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4114:Abcf1
|
UTSW |
17 |
36,270,146 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4709:Abcf1
|
UTSW |
17 |
36,271,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Abcf1
|
UTSW |
17 |
36,268,933 (GRCm39) |
intron |
probably benign |
|
|
R4932:Abcf1
|
UTSW |
17 |
36,270,342 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5129:Abcf1
|
UTSW |
17 |
36,271,687 (GRCm39) |
unclassified |
probably benign |
|
|
R5255:Abcf1
|
UTSW |
17 |
36,270,629 (GRCm39) |
splice site |
probably null |
|
|
R5517:Abcf1
|
UTSW |
17 |
36,269,233 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5518:Abcf1
|
UTSW |
17 |
36,269,233 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5660:Abcf1
|
UTSW |
17 |
36,274,539 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5836:Abcf1
|
UTSW |
17 |
36,272,918 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6193:Abcf1
|
UTSW |
17 |
36,274,464 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6247:Abcf1
|
UTSW |
17 |
36,271,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Abcf1
|
UTSW |
17 |
36,272,074 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6876:Abcf1
|
UTSW |
17 |
36,270,136 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7095:Abcf1
|
UTSW |
17 |
36,268,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7134:Abcf1
|
UTSW |
17 |
36,270,144 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7475:Abcf1
|
UTSW |
17 |
36,274,459 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7843:Abcf1
|
UTSW |
17 |
36,270,135 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7867:Abcf1
|
UTSW |
17 |
36,272,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8228:Abcf1
|
UTSW |
17 |
36,271,933 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9266:Abcf1
|
UTSW |
17 |
36,270,178 (GRCm39) |
nonsense |
probably null |
|
|
R9310:Abcf1
|
UTSW |
17 |
36,272,621 (GRCm39) |
missense |
probably null |
0.16 |
|
RF037:Abcf1
|
UTSW |
17 |
36,274,080 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Abcf1
|
UTSW |
17 |
36,274,093 (GRCm39) |
unclassified |
probably benign |
|
|
RF041:Abcf1
|
UTSW |
17 |
36,274,093 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTAGCCAAACGTCACACCTGAG -3'
(R):5'- ATGCTCTTTTACGGGTTGGAGACAG -3'
Sequencing Primer
(F):5'- TGGTTACCCCAAATGCCTGG -3'
(R):5'- GGACCCAAAGGTGGAGCC -3'
|
| Posted On |
2014-07-03 |
Incidental Mutation