Incidental Mutation 'R7066:A1cf'
| ID |
548599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| MMRRC Submission |
045162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
31846164-31926395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31904514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 175
(V175A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075838
AA Change: V259A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: V259A
| 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: V259A
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224400
AA Change: V175A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224564
AA Change: V259A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| Adamts5 |
A |
T |
16: 85,659,652 (GRCm39) |
V880E |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,621,151 (GRCm39) |
F463I |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,190,823 (GRCm39) |
E249D |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,553 (GRCm39) |
D686G |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,074,935 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,620,044 (GRCm39) |
S116P |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,466,880 (GRCm39) |
V463A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,059,192 (GRCm39) |
D297G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,235 (GRCm39) |
V5656E |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,490 (GRCm39) |
T469A |
probably benign |
Het |
| Gm21663 |
C |
G |
5: 26,146,259 (GRCm39) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,432,027 (GRCm39) |
V456A |
probably benign |
Het |
| Lpcat1 |
A |
C |
13: 73,659,500 (GRCm39) |
I373L |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,355,610 (GRCm39) |
V721I |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,097,424 (GRCm39) |
V163M |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,229,972 (GRCm39) |
I142V |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,569,317 (GRCm39) |
S1067R |
unknown |
Het |
| Myh14 |
T |
C |
7: 44,280,179 (GRCm39) |
S892G |
possibly damaging |
Het |
| Mylk2 |
C |
T |
2: 152,753,588 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,777,490 (GRCm39) |
V638E |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,372,934 (GRCm39) |
V156I |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,447,546 (GRCm39) |
E2450G |
probably damaging |
Het |
| Or14j3 |
T |
A |
17: 37,901,034 (GRCm39) |
D70V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,668,018 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,047 (GRCm39) |
T8A |
probably damaging |
Het |
| Or4f60 |
G |
A |
2: 111,902,541 (GRCm39) |
P129L |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,570 (GRCm39) |
T36S |
possibly damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,373 (GRCm39) |
L283S |
probably damaging |
Het |
| Or8g54 |
A |
G |
9: 39,707,420 (GRCm39) |
I250V |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,067,002 (GRCm39) |
D52G |
probably damaging |
Het |
| P4htm |
T |
G |
9: 108,474,162 (GRCm39) |
K125N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,301,434 (GRCm39) |
T240A |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,563,674 (GRCm39) |
V220A |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,371,478 (GRCm39) |
I136N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,460,003 (GRCm39) |
S395G |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,856 (GRCm39) |
R1122L |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,261,814 (GRCm39) |
V922A |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,502 (GRCm39) |
N118S |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,229 (GRCm39) |
V1216D |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rlf |
T |
C |
4: 121,005,984 (GRCm39) |
M999V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Sema5b |
A |
C |
16: 35,471,682 (GRCm39) |
D425A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,061,166 (GRCm39) |
E413G |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,656,111 (GRCm39) |
N288K |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,991 (GRCm39) |
D210G |
probably benign |
Het |
| Umps |
A |
T |
16: 33,782,103 (GRCm39) |
L273* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,853,805 (GRCm39) |
V385D |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,192,477 (GRCm39) |
T676A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,718 (GRCm39) |
H1699R |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
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'- ACCTCCAAGATACAGCAGTATTTTG -3'
(R):5'- ATGGACTCCAGAGGTTGCTC -3'
Sequencing Primer
(F):5'- TGTGTATAAGATGACCAATATCAAGC -3'
(R):5'- TCTTTGGTAGAGCATGCCTATAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation