Incidental Mutation 'R9327:A1cf'
| ID |
706610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A1cf
|
| Ensembl Gene |
ENSMUSG00000052595 |
| Gene Name |
APOBEC1 complementation factor |
| Synonyms |
1810073H04Rik, apobec-1 complementation factor, ACF |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9327 (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 A
at 31895499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 194
(M194K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075235
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075838]
[ENSMUST00000224304]
[ENSMUST00000224400]
[ENSMUST00000224564]
|
| AlphaFold |
Q5YD48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075838
AA Change: M194K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: M194K
| 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 damaging
Transcript: ENSMUST00000224304
AA Change: M194K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224400
AA Change: M110K
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224564
AA Change: M194K
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.3217 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,333,122 (GRCm39) |
S622P |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,748,446 (GRCm39) |
V467E |
|
Het |
| Amdhd2 |
T |
C |
17: 24,377,421 (GRCm39) |
E164G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,812,086 (GRCm39) |
|
probably null |
Het |
| Bank1 |
A |
T |
3: 135,799,308 (GRCm39) |
N545K |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,205,883 (GRCm39) |
I247T |
|
Het |
| Cep63 |
T |
C |
9: 102,467,723 (GRCm39) |
I548V |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,175,653 (GRCm39) |
D65G |
unknown |
Het |
| Cspg4b |
C |
A |
13: 113,453,710 (GRCm39) |
Q58K |
|
Het |
| Cyp2c50 |
A |
G |
19: 40,079,010 (GRCm39) |
N118D |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,510,184 (GRCm39) |
C1549Y |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 77,991,435 (GRCm39) |
E44G |
probably benign |
Het |
| Ephb4 |
T |
C |
5: 137,361,529 (GRCm39) |
S520P |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,993,755 (GRCm39) |
E1042G |
probably benign |
Het |
| Fmod |
A |
T |
1: 133,968,589 (GRCm39) |
N210Y |
probably damaging |
Het |
| Fpr3 |
A |
G |
17: 18,191,713 (GRCm39) |
D328G |
probably damaging |
Het |
| Garem2 |
T |
G |
5: 30,321,989 (GRCm39) |
C783G |
probably benign |
Het |
| Gm10542 |
A |
G |
18: 44,337,689 (GRCm39) |
N56D |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,424 (GRCm39) |
N357K |
probably benign |
Het |
| Hr |
A |
G |
14: 70,805,228 (GRCm39) |
H990R |
possibly damaging |
Het |
| Il21r |
A |
G |
7: 125,226,163 (GRCm39) |
N53S |
unknown |
Het |
| Insrr |
C |
T |
3: 87,721,604 (GRCm39) |
T1170I |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,638,034 (GRCm39) |
M103V |
probably damaging |
Het |
| Izumo3 |
G |
T |
4: 92,035,050 (GRCm39) |
Q56K |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,146,084 (GRCm39) |
V324A |
probably damaging |
Het |
| Kcnj2 |
T |
A |
11: 110,963,719 (GRCm39) |
N370K |
probably benign |
Het |
| Klf16 |
G |
T |
10: 80,412,688 (GRCm39) |
S116* |
probably null |
Het |
| Mettl16 |
T |
C |
11: 74,696,089 (GRCm39) |
V310A |
probably benign |
Het |
| Misp3 |
G |
T |
8: 84,737,080 (GRCm39) |
Q105K |
unknown |
Het |
| Mmrn2 |
G |
A |
14: 34,097,473 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
A |
G |
17: 66,645,130 (GRCm39) |
L1888P |
probably damaging |
Het |
| Muc5ac |
A |
C |
7: 141,365,429 (GRCm39) |
T1984P |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,489,705 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
T |
C |
9: 108,691,699 (GRCm39) |
I466T |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Npffr2 |
A |
G |
5: 89,730,661 (GRCm39) |
H197R |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,100 (GRCm39) |
M842L |
probably benign |
Het |
| Nxpe4 |
G |
A |
9: 48,309,984 (GRCm39) |
A416T |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,597,687 (GRCm39) |
V5A |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,742 (GRCm39) |
I278V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,019 (GRCm39) |
C97* |
probably null |
Het |
| Ppp1r15a |
C |
T |
7: 45,174,035 (GRCm39) |
A258T |
possibly damaging |
Het |
| Prss36 |
A |
T |
7: 127,532,570 (GRCm39) |
Y760* |
probably null |
Het |
| Psg26 |
T |
A |
7: 18,216,480 (GRCm39) |
T120S |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,878,977 (GRCm39) |
L908Q |
probably benign |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Slc25a44 |
A |
T |
3: 88,328,025 (GRCm39) |
H155Q |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,321,486 (GRCm39) |
T894A |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,574,149 (GRCm39) |
F39L |
probably damaging |
Het |
| Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
| Tmt1b |
A |
G |
10: 128,794,607 (GRCm39) |
M239T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,896,004 (GRCm39) |
V947A |
possibly damaging |
Het |
| Txndc16 |
G |
A |
14: 45,379,448 (GRCm39) |
T663I |
probably benign |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,532 (GRCm39) |
Y832C |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,841 (GRCm39) |
T143A |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,930,750 (GRCm39) |
N82D |
probably benign |
Het |
| Zfp318 |
T |
G |
17: 46,721,892 (GRCm39) |
F1298L |
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 |
|
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 |
|
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 |
|
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'- TGTGCCAGTGTGGACAATTG -3'
(R):5'- CGATCAAAGTTCTCCTGATGTG -3'
Sequencing Primer
(F):5'- CAATTGCCGATTGTTTGTGGGAG -3'
(R):5'- GCAGAGGTGTGACTTTTCCAAAATAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation