Incidental Mutation 'R4448:A1cf'
| ID |
328863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| MMRRC Submission |
041709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4448 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31923262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 513
(T513S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075838
AA Change: T521S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: T521S
| 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: T513S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
94% (49/52) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
T |
11: 84,153,318 (GRCm39) |
I909F |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,266,569 (GRCm39) |
I980V |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Asb8 |
A |
G |
15: 98,039,211 (GRCm39) |
V63A |
possibly damaging |
Het |
| Atp6v1b2 |
T |
A |
8: 69,554,674 (GRCm39) |
D126E |
probably benign |
Het |
| BC048562 |
T |
A |
9: 108,315,723 (GRCm39) |
L43Q |
probably damaging |
Het |
| Ctcf |
A |
T |
8: 106,406,925 (GRCm39) |
|
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,649 (GRCm39) |
S128P |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,005,676 (GRCm39) |
M722K |
probably damaging |
Het |
| Ezr |
T |
C |
17: 7,020,473 (GRCm39) |
I203V |
probably benign |
Het |
| F5 |
A |
T |
1: 164,026,468 (GRCm39) |
N1680I |
possibly damaging |
Het |
| Fcna |
A |
G |
2: 25,515,488 (GRCm39) |
F194L |
probably damaging |
Het |
| Fut7 |
A |
G |
2: 25,314,951 (GRCm39) |
T70A |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gpr4 |
G |
A |
7: 18,956,926 (GRCm39) |
A283T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,770,574 (GRCm39) |
|
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,911 (GRCm39) |
K268E |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,318 (GRCm39) |
S605P |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,646,733 (GRCm39) |
F198L |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,669,788 (GRCm39) |
F92L |
possibly damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,425,938 (GRCm39) |
I2396V |
possibly damaging |
Het |
| Nckap5 |
G |
A |
1: 125,953,463 (GRCm39) |
Q1030* |
probably null |
Het |
| Pag1 |
T |
C |
3: 9,764,526 (GRCm39) |
E209G |
probably benign |
Het |
| Pramel30 |
A |
C |
4: 144,059,255 (GRCm39) |
H322P |
probably damaging |
Het |
| Pttg1 |
A |
T |
11: 43,315,517 (GRCm39) |
|
probably benign |
Het |
| Rab38 |
T |
G |
7: 88,139,833 (GRCm39) |
D167E |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,388,986 (GRCm39) |
F302I |
probably damaging |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,171 (GRCm39) |
N11D |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,388,524 (GRCm39) |
G250D |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,219,094 (GRCm39) |
V81D |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Sqstm1 |
A |
G |
11: 50,093,866 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
A |
G |
2: 179,577,764 (GRCm39) |
L519P |
possibly damaging |
Het |
| Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
| Urb1 |
C |
T |
16: 90,566,282 (GRCm39) |
V1502I |
possibly damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,463 (GRCm39) |
V250G |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,830 (GRCm39) |
L128F |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
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 |
|
|
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 |
|
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'- ACCGAGGTGCTGGATCAATG -3'
(R):5'- GCATGTAGTTGAGGGTTCTACAAAG -3'
Sequencing Primer
(F):5'- TGCACAAATATGCCTGCGTAG -3'
(R):5'- GTTCTACAAAGAAGCTCTCCCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation