Incidental Mutation 'IGL02165:A1cf'
| ID |
282673 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31904586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 199
(M199K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075838
AA Change: M283K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: M283K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
57 |
130 |
2.13e-18 |
SMART |
|
RRM
|
137 |
214 |
1.59e-8 |
SMART |
|
RRM
|
232 |
299 |
1.36e-16 |
SMART |
|
low complexity region
|
386 |
411 |
N/A |
INTRINSIC |
|
Pfam:DND1_DSRM
|
445 |
523 |
1.6e-30 |
PFAM |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224304
AA Change: M283K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224400
AA Change: M199K
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224564
AA Change: M283K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a targeted deletion of this gene are detectable only until the blastocyst stage (E3.5) and isolated mutant blastocysts fail to proliferate in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
| Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
| Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
| Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
| C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
| Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
| Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,172 (GRCm39) |
T430A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,888,877 (GRCm39) |
M159K |
probably benign |
Het |
| Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
| Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
| Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
| Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,387,035 (GRCm39) |
N875K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
| Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
| Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
| Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
| Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
| Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
| Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
| Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
| Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
| Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
| Strn |
A |
T |
17: 78,995,049 (GRCm39) |
W2R |
probably damaging |
Het |
| Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
| Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
| Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
| Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
| Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
| Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
| Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
| Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly damaging |
Het |
|
| Other mutations in A1cf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:A1cf
|
APN |
19 |
31,898,351 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01411:A1cf
|
APN |
19 |
31,888,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01445:A1cf
|
APN |
19 |
31,923,198 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02543:A1cf
|
APN |
19 |
31,895,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02651:A1cf
|
APN |
19 |
31,909,906 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02904:A1cf
|
APN |
19 |
31,912,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Haywire
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0281:A1cf
|
UTSW |
19 |
31,923,214 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0349:A1cf
|
UTSW |
19 |
31,910,062 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0662:A1cf
|
UTSW |
19 |
31,898,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0697:A1cf
|
UTSW |
19 |
31,888,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:A1cf
|
UTSW |
19 |
31,909,919 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1125:A1cf
|
UTSW |
19 |
31,898,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1448:A1cf
|
UTSW |
19 |
31,886,196 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1554:A1cf
|
UTSW |
19 |
31,886,302 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1616:A1cf
|
UTSW |
19 |
31,912,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1660:A1cf
|
UTSW |
19 |
31,870,507 (GRCm39) |
nonsense |
probably null |
|
|
R1719:A1cf
|
UTSW |
19 |
31,904,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:A1cf
|
UTSW |
19 |
31,909,945 (GRCm39) |
missense |
probably benign |
|
|
R2435:A1cf
|
UTSW |
19 |
31,898,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2890:A1cf
|
UTSW |
19 |
31,895,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3688:A1cf
|
UTSW |
19 |
31,888,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:A1cf
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4208:A1cf
|
UTSW |
19 |
31,910,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4448:A1cf
|
UTSW |
19 |
31,923,262 (GRCm39) |
missense |
probably benign |
|
|
R5072:A1cf
|
UTSW |
19 |
31,895,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5491:A1cf
|
UTSW |
19 |
31,895,462 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5636:A1cf
|
UTSW |
19 |
31,922,382 (GRCm39) |
nonsense |
probably null |
|
|
R5932:A1cf
|
UTSW |
19 |
31,870,518 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7066:A1cf
|
UTSW |
19 |
31,904,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7211:A1cf
|
UTSW |
19 |
31,904,541 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7413:A1cf
|
UTSW |
19 |
31,895,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7545:A1cf
|
UTSW |
19 |
31,912,190 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8020:A1cf
|
UTSW |
19 |
31,870,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8344:A1cf
|
UTSW |
19 |
31,888,519 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8497:A1cf
|
UTSW |
19 |
31,923,250 (GRCm39) |
missense |
probably benign |
|
|
R8989:A1cf
|
UTSW |
19 |
31,904,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9327:A1cf
|
UTSW |
19 |
31,895,499 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9436:A1cf
|
UTSW |
19 |
31,909,975 (GRCm39) |
missense |
probably benign |
|
|
Z1176:A1cf
|
UTSW |
19 |
31,895,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation