Incidental Mutation 'R2338:A1cf'
| ID |
246656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| MMRRC Submission |
040324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R2338 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31909945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 330
(P330S)
|
| 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: P330S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: P330S
| 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: P330S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224400
AA Change: P246S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224564
AA Change: P330S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,817,109 (GRCm39) |
D53G |
probably benign |
Het |
| Acta2 |
A |
G |
19: 34,225,941 (GRCm39) |
|
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,658,440 (GRCm39) |
L1158S |
probably damaging |
Het |
| Cadps2 |
C |
G |
6: 23,838,977 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,656,808 (GRCm39) |
R1048C |
probably damaging |
Het |
| Cdkl2 |
C |
T |
5: 92,181,538 (GRCm39) |
A148T |
possibly damaging |
Het |
| Dab2 |
T |
A |
15: 6,464,733 (GRCm39) |
I395K |
possibly damaging |
Het |
| Dclk2 |
A |
G |
3: 86,706,324 (GRCm39) |
F589S |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,465,470 (GRCm39) |
S1376P |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,148,005 (GRCm39) |
F1256L |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,895,605 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,202,727 (GRCm39) |
T116A |
possibly damaging |
Het |
| Fem1al |
C |
A |
11: 29,773,718 (GRCm39) |
A580S |
probably benign |
Het |
| Fmnl3 |
T |
C |
15: 99,268,108 (GRCm39) |
T26A |
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,980,254 (GRCm39) |
V158A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,351 (GRCm39) |
D375E |
probably benign |
Het |
| Gne |
C |
T |
4: 44,042,196 (GRCm39) |
A460T |
probably damaging |
Het |
| Gprin1 |
T |
A |
13: 54,886,238 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
T |
C |
1: 53,943,581 (GRCm39) |
M949V |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,336,251 (GRCm39) |
V1599M |
possibly damaging |
Het |
| Hk2 |
A |
C |
6: 82,708,096 (GRCm39) |
N628K |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,498,685 (GRCm39) |
T4065A |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,691,321 (GRCm39) |
Q683L |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,217 (GRCm39) |
I121T |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,359,340 (GRCm39) |
L322P |
probably benign |
Het |
| Lilrb4a |
A |
G |
10: 51,367,796 (GRCm39) |
M113V |
probably benign |
Het |
| Mnat1 |
G |
A |
12: 73,265,917 (GRCm39) |
|
probably null |
Het |
| Mucl1 |
T |
A |
15: 103,783,964 (GRCm39) |
T68S |
possibly damaging |
Het |
| Npnt |
G |
T |
3: 132,597,170 (GRCm39) |
D461E |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,224,385 (GRCm39) |
Q716L |
probably benign |
Het |
| Or11g25 |
A |
G |
14: 50,723,097 (GRCm39) |
T61A |
possibly damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,159 (GRCm39) |
S156R |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,617 (GRCm39) |
I280N |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,178 (GRCm39) |
Q376R |
probably damaging |
Het |
| Pudp |
T |
C |
18: 50,701,646 (GRCm39) |
D29G |
probably benign |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
C |
13: 51,573,614 (GRCm39) |
I265T |
possibly damaging |
Het |
| Scgb1b2 |
A |
T |
7: 30,991,038 (GRCm39) |
C23* |
probably null |
Het |
| Spag8 |
G |
T |
4: 43,652,826 (GRCm39) |
R212S |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,335,299 (GRCm39) |
|
probably null |
Het |
| Trmt1l |
C |
T |
1: 151,304,710 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,954,469 (GRCm39) |
L810Q |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,292,059 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
G |
6: 123,681,384 (GRCm39) |
I97M |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,590,051 (GRCm39) |
F622I |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,697,817 (GRCm39) |
G766E |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,946,495 (GRCm39) |
T553A |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,114 (GRCm39) |
D1118E |
probably damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,517,811 (GRCm39) |
D461E |
probably 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 |
|
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 |
|
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 |
|
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'- ACTGATACAGAAGCATGGGC -3'
(R):5'- ACAAGAACTAGCTAGTGTTACCTCTG -3'
Sequencing Primer
(F):5'- TGGTAGACCAAGACTTGTCGG -3'
(R):5'- GCTAGTGTTACCTCTGACAGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation