Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:A1cf'

561114

Institutional Source

Beutler Lab

Gene Symbol

A1cf

Ensembl Gene

ENSMUSG00000052595

Gene Name

APOBEC1 complementation factor

Synonyms

1810073H04Rik, apobec-1 complementation factor, ACF

MMRRC Submission

045339-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31846164-31926395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31904541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 268 (Y268C)

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: Y268C

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224400
AA Change: Y184C

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224564
AA Change: Y268C

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.7587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	T	A	2: 154,887,699 (GRCm39)	V53E	probably damaging	Het
Adam34l	T	A	8: 44,078,914 (GRCm39)	S437C	probably damaging	Het
Adamts13	C	T	2: 26,879,310 (GRCm39)	T621I	probably benign	Het
Akr1b7	A	T	6: 34,398,049 (GRCm39)	N293Y	probably benign	Het
Angpt2	T	A	8: 18,791,147 (GRCm39)	T50S	probably benign	Het
Anks1b	C	A	10: 90,346,932 (GRCm39)	A744D	possibly damaging	Het
Aqr	A	G	2: 113,965,204 (GRCm39)	V587A	probably benign	Het
Atm	A	G	9: 53,399,860 (GRCm39)	V1540A	probably benign	Het
Brd10	A	G	19: 29,763,712 (GRCm39)	F121S		Het
C4b	A	G	17: 34,954,508 (GRCm39)	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,609,120 (GRCm39)	T26A	probably benign	Het
Ciao1	A	G	2: 127,088,928 (GRCm39)		probably null	Het
Clba1	T	A	12: 112,774,632 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,519,775 (GRCm39)	C200R	probably benign	Het
Col6a5	T	A	9: 105,805,363 (GRCm39)	Q1181L	unknown	Het
Copb2	T	A	9: 98,456,198 (GRCm39)	I244N	probably damaging	Het
Cpb2	A	G	14: 75,512,430 (GRCm39)	Y281C	probably damaging	Het
Disp3	C	A	4: 148,325,979 (GRCm39)	V1260F	probably damaging	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Dpysl2	T	C	14: 67,067,425 (GRCm39)	N162S	probably damaging	Het
Dsp	T	A	13: 38,372,511 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,941 (GRCm39)		probably null	Het
Efcab3	C	A	11: 104,601,539 (GRCm39)	A284D	probably benign	Het
Efcab3	G	T	11: 104,615,435 (GRCm39)		probably null	Het
Epm2a	T	C	10: 11,219,419 (GRCm39)	Y69H	probably benign	Het
Frzb	C	A	2: 80,248,669 (GRCm39)	E262*	probably null	Het
Gaa	T	C	11: 119,175,030 (GRCm39)	V877A	possibly damaging	Het
Gpnmb	T	C	6: 49,028,949 (GRCm39)	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,271,104 (GRCm39)	T22A	probably benign	Het
Gys1	T	A	7: 45,097,684 (GRCm39)	F477Y	possibly damaging	Het
Hoxc11	A	C	15: 102,863,487 (GRCm39)	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,028,076 (GRCm39)	F384I	probably damaging	Het
Ky	A	G	9: 102,386,349 (GRCm39)	E59G	probably benign	Het
Lama4	T	A	10: 38,881,491 (GRCm39)	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,755,152 (GRCm39)	N128K	probably benign	Het
Lrrc71	G	T	3: 87,650,633 (GRCm39)	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,135,124 (GRCm39)	R1980H	probably benign	Het
Med15	T	C	16: 17,515,977 (GRCm39)	D15G	unknown	Het
Mfng	A	T	15: 78,657,268 (GRCm39)	S69T	probably benign	Het
Muc16	T	G	9: 18,409,866 (GRCm39)	S181R	probably damaging	Het
Mug1	A	T	6: 121,857,498 (GRCm39)	Q1074L	possibly damaging	Het
Myorg	A	G	4: 41,498,028 (GRCm39)	I534T	probably damaging	Het
Nbea	T	A	3: 55,912,322 (GRCm39)	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,240,110 (GRCm39)	L159V	probably damaging	Het
Nudt1	C	A	5: 140,323,402 (GRCm39)	P118Q	possibly damaging	Het
Or2q1	A	T	6: 42,794,950 (GRCm39)	T182S	probably benign	Het
Or8g37	A	C	9: 39,731,154 (GRCm39)	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,842,173 (GRCm39)	V631D	probably benign	Het
Pcna	A	C	2: 132,091,792 (GRCm39)	V203G	probably damaging	Het
Pgf	G	T	12: 85,222,549 (GRCm39)	N33K	probably benign	Het
Pgm2	T	C	5: 64,263,193 (GRCm39)	L280P	probably damaging	Het
Plcg1	G	A	2: 160,573,794 (GRCm39)	A20T	probably benign	Het
Pou2af2	G	T	9: 51,201,733 (GRCm39)	Q108K	probably damaging	Het
Prdx5	G	T	19: 6,884,958 (GRCm39)	D126E	probably damaging	Het
Prkag2	T	C	5: 25,200,296 (GRCm39)	T20A	probably benign	Het
Prr14l	T	A	5: 32,987,431 (GRCm39)	Q688L	probably damaging	Het
Pxdn	T	G	12: 30,034,903 (GRCm39)	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,012,905 (GRCm39)	C53*	probably null	Het
Rprm	A	T	2: 53,975,270 (GRCm39)	L16Q	probably benign	Het
Saysd1	A	G	14: 20,127,576 (GRCm39)	F116S	probably damaging	Het
Scg3	A	G	9: 75,589,366 (GRCm39)	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,075,078 (GRCm39)	L16F	unknown	Het
Sh3tc2	A	G	18: 62,122,474 (GRCm39)	T412A	probably benign	Het
Skint6	T	C	4: 113,095,566 (GRCm39)	N31S	probably benign	Het
Slc22a2	T	C	17: 12,805,770 (GRCm39)		probably null	Het
Slc8a2	C	T	7: 15,874,538 (GRCm39)	T262I	possibly damaging	Het
Smarcc1	A	T	9: 109,979,082 (GRCm39)	K188N	probably damaging	Het
Taf6	T	C	5: 138,177,088 (GRCm39)	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,725,540 (GRCm39)	R164C	probably damaging	Het
Tec	T	C	5: 72,939,355 (GRCm39)	D220G	probably null	Het
Tfec	A	T	6: 16,867,464 (GRCm39)	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,409,587 (GRCm39)	S8R	probably benign	Het
Tmtc3	A	T	10: 100,283,467 (GRCm39)	M696K	probably benign	Het
Trpc3	A	T	3: 36,694,882 (GRCm39)	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,866,623 (GRCm39)	M503K	probably benign	Het
Ttll7	A	G	3: 146,619,031 (GRCm39)	H312R	probably damaging	Het
Ttn	T	C	2: 76,598,032 (GRCm39)	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,149,177 (GRCm39)	S143P	probably benign	Het
Usp53	A	G	3: 122,751,299 (GRCm39)	S253P	probably damaging	Het
Utp18	A	G	11: 93,776,206 (GRCm39)	V93A	probably benign	Het
Utrn	T	C	10: 12,277,079 (GRCm39)	N3413D	possibly damaging	Het
Zhx1	T	C	15: 57,916,647 (GRCm39)	D533G	possibly 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
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'- GGTTGAACCTCCAAGATACAGCAG -3'
(R):5'- AAAGGACTGCAGCTTCTGGG -3'

Sequencing Primer
(F):5'- CCTCCAAGATACAGCAGTATTTTG -3'
(R):5'- ACTGCAGCTTCTGGGTCAGTG -3'

Posted On

2019-06-26