Incidental Mutation 'R1554:A1cf'
| ID |
170198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
apobec-1 complementation factor, ACF, 1810073H04Rik |
| MMRRC Submission |
039593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R1554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
31868764-31948573 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31908902 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 70
(D70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075838
AA Change: D70E
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: D70E
| 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: D70E
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224400
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224564
AA Change: D70E
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225165
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
T |
9: 90,173,650 (GRCm38) |
D152V |
probably damaging |
Het |
| Api5 |
T |
C |
2: 94,425,643 (GRCm38) |
D233G |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,996,598 (GRCm38) |
D1390G |
probably benign |
Het |
| Cep135 |
G |
A |
5: 76,634,213 (GRCm38) |
W893* |
probably null |
Het |
| Cmtm6 |
T |
A |
9: 114,746,482 (GRCm38) |
V153D |
possibly damaging |
Het |
| Dnah11 |
C |
T |
12: 118,082,499 (GRCm38) |
V1735I |
possibly damaging |
Het |
| Dnm1l |
T |
C |
16: 16,341,426 (GRCm38) |
N104S |
probably benign |
Het |
| Dpyd |
A |
T |
3: 119,065,046 (GRCm38) |
|
probably null |
Het |
| Dtx1 |
T |
C |
5: 120,683,321 (GRCm38) |
K387R |
probably damaging |
Het |
| Ercc4 |
A |
G |
16: 13,147,622 (GRCm38) |
D706G |
probably damaging |
Het |
| Fam208b |
A |
G |
13: 3,576,374 (GRCm38) |
V1192A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,253,664 (GRCm38) |
N4128S |
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,507,787 (GRCm38) |
C639S |
possibly damaging |
Het |
| Grk3 |
T |
A |
5: 112,969,269 (GRCm38) |
I89L |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 28,125,853 (GRCm38) |
D91E |
probably benign |
Het |
| Havcr1 |
C |
A |
11: 46,752,507 (GRCm38) |
H85N |
probably benign |
Het |
| Il12rb1 |
G |
A |
8: 70,813,372 (GRCm38) |
|
probably null |
Het |
| Kif3a |
A |
G |
11: 53,598,327 (GRCm38) |
K117E |
probably damaging |
Het |
| Kitl |
T |
A |
10: 100,087,438 (GRCm38) |
F15L |
probably benign |
Het |
| Ktn1 |
T |
G |
14: 47,695,507 (GRCm38) |
L706R |
probably damaging |
Het |
| Lipg |
T |
C |
18: 74,948,047 (GRCm38) |
Y321C |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 24,903,059 (GRCm38) |
D710G |
probably benign |
Het |
| Mb21d1 |
A |
T |
9: 78,435,556 (GRCm38) |
S321R |
probably damaging |
Het |
| Mchr1 |
A |
G |
15: 81,235,820 (GRCm38) |
N16S |
probably benign |
Het |
| Myadml2 |
A |
T |
11: 120,647,727 (GRCm38) |
L94* |
probably null |
Het |
| Npr3 |
C |
A |
15: 11,848,563 (GRCm38) |
M439I |
probably benign |
Het |
| Obscn |
A |
G |
11: 59,003,648 (GRCm38) |
I6677T |
unknown |
Het |
| Ogn |
A |
C |
13: 49,621,044 (GRCm38) |
D221A |
probably benign |
Het |
| Olfr889 |
T |
C |
9: 38,115,934 (GRCm38) |
I46T |
probably benign |
Het |
| Pard3b |
C |
A |
1: 62,637,894 (GRCm38) |
Q1195K |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,321,951 (GRCm38) |
E608G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,223,072 (GRCm38) |
D259G |
probably benign |
Het |
| Per1 |
T |
C |
11: 69,103,627 (GRCm38) |
S526P |
probably damaging |
Het |
| Pfkfb2 |
A |
G |
1: 130,706,472 (GRCm38) |
V156A |
probably damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,055,822 (GRCm38) |
D307E |
probably damaging |
Het |
| Rims4 |
T |
C |
2: 163,879,122 (GRCm38) |
S70G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,441,839 (GRCm38) |
F2625L |
probably benign |
Het |
| Sap130 |
T |
C |
18: 31,666,472 (GRCm38) |
L334P |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 40,076,800 (GRCm38) |
I233V |
probably benign |
Het |
| Slc16a7 |
A |
C |
10: 125,230,922 (GRCm38) |
F283V |
possibly damaging |
Het |
| Slc25a24 |
T |
C |
3: 109,136,270 (GRCm38) |
M81T |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,326,921 (GRCm38) |
R134G |
probably damaging |
Het |
| Slc35d3 |
G |
T |
10: 19,850,737 (GRCm38) |
L96M |
probably damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,381,896 (GRCm38) |
G333D |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,141,828 (GRCm38) |
S446P |
probably benign |
Het |
| Stk38 |
T |
A |
17: 28,979,232 (GRCm38) |
N248I |
possibly damaging |
Het |
| Tle6 |
A |
C |
10: 81,595,385 (GRCm38) |
S221A |
probably benign |
Het |
| Tmprss11b |
G |
A |
5: 86,661,631 (GRCm38) |
T334I |
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,289,260 (GRCm38) |
M1L |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 67,023,429 (GRCm38) |
H262R |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,711,082 (GRCm38) |
S118P |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,107,922 (GRCm38) |
V1068A |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 46,972,951 (GRCm38) |
I591V |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,764,737 (GRCm38) |
Y38* |
probably null |
Het |
| Vmn1r217 |
A |
T |
13: 23,114,294 (GRCm38) |
I146N |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 54,898,054 (GRCm38) |
Y938C |
probably damaging |
Het |
|
| Other mutations in A1cf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:A1cf
|
APN |
19 |
31,920,951 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01411:A1cf
|
APN |
19 |
31,911,229 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01445:A1cf
|
APN |
19 |
31,945,798 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL02165:A1cf
|
APN |
19 |
31,927,186 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02543:A1cf
|
APN |
19 |
31,918,095 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02651:A1cf
|
APN |
19 |
31,932,506 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02904:A1cf
|
APN |
19 |
31,934,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Haywire
|
UTSW |
19 |
31,918,124 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0281:A1cf
|
UTSW |
19 |
31,945,814 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0349:A1cf
|
UTSW |
19 |
31,932,662 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R0662:A1cf
|
UTSW |
19 |
31,920,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0697:A1cf
|
UTSW |
19 |
31,911,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1055:A1cf
|
UTSW |
19 |
31,932,519 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1125:A1cf
|
UTSW |
19 |
31,920,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1448:A1cf
|
UTSW |
19 |
31,908,796 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1616:A1cf
|
UTSW |
19 |
31,934,775 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1660:A1cf
|
UTSW |
19 |
31,893,107 (GRCm38) |
nonsense |
probably null |
|
|
R1719:A1cf
|
UTSW |
19 |
31,927,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2338:A1cf
|
UTSW |
19 |
31,932,545 (GRCm38) |
missense |
probably benign |
|
|
R2435:A1cf
|
UTSW |
19 |
31,920,894 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2890:A1cf
|
UTSW |
19 |
31,918,017 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3688:A1cf
|
UTSW |
19 |
31,911,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4007:A1cf
|
UTSW |
19 |
31,918,124 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4208:A1cf
|
UTSW |
19 |
31,932,660 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4448:A1cf
|
UTSW |
19 |
31,945,862 (GRCm38) |
missense |
probably benign |
|
|
R5072:A1cf
|
UTSW |
19 |
31,917,985 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5491:A1cf
|
UTSW |
19 |
31,918,062 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R5636:A1cf
|
UTSW |
19 |
31,944,982 (GRCm38) |
nonsense |
probably null |
|
|
R5932:A1cf
|
UTSW |
19 |
31,893,118 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7066:A1cf
|
UTSW |
19 |
31,927,114 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7211:A1cf
|
UTSW |
19 |
31,927,141 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7413:A1cf
|
UTSW |
19 |
31,918,124 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7545:A1cf
|
UTSW |
19 |
31,934,790 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8020:A1cf
|
UTSW |
19 |
31,893,194 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8344:A1cf
|
UTSW |
19 |
31,911,119 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8497:A1cf
|
UTSW |
19 |
31,945,850 (GRCm38) |
missense |
probably benign |
|
|
R8989:A1cf
|
UTSW |
19 |
31,927,156 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9327:A1cf
|
UTSW |
19 |
31,918,099 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9436:A1cf
|
UTSW |
19 |
31,932,575 (GRCm38) |
missense |
probably benign |
|
|
Z1176:A1cf
|
UTSW |
19 |
31,918,017 (GRCm38) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACGTGTCAGCCGTGCTTACC -3'
(R):5'- GCATGAGGTTTGCATCCACACTCAC -3'
Sequencing Primer
(F):5'- TGCTGCATTGAGGCATAAGC -3'
(R):5'- aaacacacacacacacacac -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation