Incidental Mutation 'R2435:A1cf'
ID |
249567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
A1cf
|
Ensembl Gene |
ENSMUSG00000052595 |
Gene Name |
APOBEC1 complementation factor |
Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
MMRRC Submission |
040396-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R2435 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31898294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 226
(T226I)
|
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: T226I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000075235 Gene: ENSMUSG00000052595 AA Change: T226I
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: T226I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224400
AA Change: T142I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224564
AA Change: T226I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
T |
C |
2: 58,369,704 (GRCm39) |
N102D |
probably damaging |
Het |
Cd34 |
T |
A |
1: 194,621,334 (GRCm39) |
C21S |
probably damaging |
Het |
Cdh18 |
C |
T |
15: 23,367,094 (GRCm39) |
R267W |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,411,490 (GRCm39) |
N966K |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,265,855 (GRCm39) |
V44A |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,323,083 (GRCm39) |
N2828I |
probably damaging |
Het |
Dnah10 |
G |
T |
5: 124,839,929 (GRCm39) |
|
probably null |
Het |
Fshr |
A |
T |
17: 89,508,024 (GRCm39) |
V6D |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,130,602 (GRCm39) |
D1398G |
probably damaging |
Het |
Gpi1 |
G |
A |
7: 33,905,254 (GRCm39) |
A390V |
probably damaging |
Het |
Gypa |
G |
T |
8: 81,233,397 (GRCm39) |
|
probably null |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Ifna13 |
T |
A |
4: 88,562,366 (GRCm39) |
Q86L |
probably damaging |
Het |
Itgae |
T |
A |
11: 73,012,763 (GRCm39) |
C698* |
probably null |
Het |
Ivns1abp |
T |
C |
1: 151,239,061 (GRCm39) |
V625A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,531,345 (GRCm39) |
|
probably null |
Het |
Kcnj6 |
G |
A |
16: 94,563,538 (GRCm39) |
T320M |
probably damaging |
Het |
Mblac2 |
T |
C |
13: 81,898,368 (GRCm39) |
I248T |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,371,841 (GRCm39) |
Y2647F |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or4k15 |
T |
C |
14: 50,364,211 (GRCm39) |
M59T |
probably damaging |
Het |
Or6c217 |
G |
T |
10: 129,738,173 (GRCm39) |
N135K |
possibly damaging |
Het |
Pard3b |
T |
A |
1: 62,626,897 (GRCm39) |
V1059E |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,377,334 (GRCm39) |
I1585L |
probably benign |
Het |
Pramel31 |
A |
T |
4: 144,089,473 (GRCm39) |
I264F |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,109,741 (GRCm39) |
S1791C |
probably damaging |
Het |
Rbmxl2 |
C |
A |
7: 106,809,538 (GRCm39) |
S274R |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,475 (GRCm39) |
E168G |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sis |
A |
G |
3: 72,819,237 (GRCm39) |
S1440P |
probably benign |
Het |
Snrnp40 |
A |
G |
4: 130,278,344 (GRCm39) |
H283R |
probably damaging |
Het |
Tcaf2 |
G |
T |
6: 42,607,298 (GRCm39) |
Q219K |
possibly damaging |
Het |
Tenm3 |
C |
T |
8: 48,740,988 (GRCm39) |
R803H |
probably damaging |
Het |
Ugt2b5 |
T |
C |
5: 87,287,465 (GRCm39) |
D234G |
probably damaging |
Het |
Unc13d |
A |
G |
11: 115,959,514 (GRCm39) |
F653S |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,986,373 (GRCm39) |
I136V |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,656,753 (GRCm39) |
S151P |
possibly damaging |
Het |
Vmn2r50 |
C |
A |
7: 9,787,026 (GRCm39) |
W27L |
probably benign |
Het |
Zan |
T |
C |
5: 137,436,836 (GRCm39) |
S2006G |
unknown |
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 |
R2338:A1cf
|
UTSW |
19 |
31,909,945 (GRCm39) |
missense |
probably benign |
|
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'- TGAAGACTCTCCTACCAGACTC -3'
(R):5'- ACATTGTGGGTAATGGCCTC -3'
Sequencing Primer
(F):5'- ATGCGCTGAGATGATGTC -3'
(R):5'- AATGGCCTCTGGTGTAAGTG -3'
|
Posted On |
2014-11-12 |