Incidental Mutation 'R0662:A1cf'
ID |
61932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A1cf
|
Ensembl Gene |
ENSMUSG00000052595 |
Gene Name |
APOBEC1 complementation factor |
Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
MMRRC Submission |
038847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R0662 (G1)
|
Quality Score |
208 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31898338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 241
(S241P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
AlphaFold |
Q5YD48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075838
AA Change: S241P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000075235 Gene: ENSMUSG00000052595 AA Change: S241P
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 |
probably benign
Transcript: ENSMUST00000224304
AA Change: S241P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224400
AA Change: S157P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224564
AA Change: S241P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
probably benign |
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 |
IGL02165:A1cf
|
APN |
19 |
31,904,586 (GRCm39) |
missense |
possibly damaging |
0.92 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCAAATGCACCCACTGCGTC -3'
(R):5'- CCTAAGTGCTGTAGGACCACATGTCTC -3'
Sequencing Primer
(F):5'- GGTCATTTAAGACCTTAACGGTCAG -3'
(R):5'- AGGACCACATGTCTCTTTTGG -3'
|
Posted On |
2013-07-30 |