Mutagenetix > Incidental Mutation

Incidental Mutation 'R5072:A1cf'

388927

Institutional Source

Beutler Lab

Gene Symbol

A1cf

Ensembl Gene

ENSMUSG00000052595

Gene Name

APOBEC1 complementation factor

Synonyms

1810073H04Rik, apobec-1 complementation factor, ACF

Accession Numbers

Essential gene?

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

Stock #

R5072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31846164-31926395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31895385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 156 (M156T)

Ref Sequence

ENSEMBL: ENSMUSP00000153465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075838] [ENSMUST00000224304] [ENSMUST00000224400] [ENSMUST00000224564]

AlphaFold

Q5YD48

Predicted Effect

probably benign
Transcript: ENSMUST00000075838
AA Change: M156T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: M156T

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: M156T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000224400
AA Change: M72T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000224564
AA Change: M156T

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224809

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 95.9%
20x: 90.9%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,414 (GRCm39)	H104Q	probably benign	Het
4933405L10Rik	A	G	8: 106,436,201 (GRCm39)	T158A	possibly damaging	Het
Abca15	A	G	7: 120,006,198 (GRCm39)	Y1620C	probably damaging	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Ablim1	A	G	19: 57,062,285 (GRCm39)		probably null	Het
Acox2	A	T	14: 8,241,374 (GRCm38)	Y579*	probably null	Het
Adnp	A	T	2: 168,024,921 (GRCm39)	S791R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Alx3	G	T	3: 107,512,109 (GRCm39)	S249I	possibly damaging	Het
Apob	A	G	12: 8,058,714 (GRCm39)	T2366A	probably benign	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Arid4a	T	C	12: 71,091,853 (GRCm39)	V213A	probably benign	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bpifa5	A	T	2: 154,007,892 (GRCm39)	E178V	probably damaging	Het
Car4	G	A	11: 84,854,193 (GRCm39)	E47K	probably benign	Het
Catsper1	T	C	19: 5,390,074 (GRCm39)		probably null	Het
Ccdc63	T	A	5: 122,259,118 (GRCm39)	Q260L	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Ces5a	C	T	8: 94,261,296 (GRCm39)	V44M	probably damaging	Het
Cltc	A	G	11: 86,608,794 (GRCm39)	I741T	possibly damaging	Het
Cnst	C	A	1: 179,450,451 (GRCm39)	D638E	possibly damaging	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Ddx20	A	G	3: 105,590,191 (GRCm39)		probably null	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Epha4	T	C	1: 77,421,639 (GRCm39)	Y281C	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
Gtf2ird1	G	T	5: 134,419,787 (GRCm39)		probably null	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
H2ac20	C	T	3: 96,128,099 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Irgc	T	C	7: 24,132,196 (GRCm39)	D207G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krtap1-4	C	G	11: 99,474,442 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,028,872 (GRCm39)	E365G	probably damaging	Het
Ly75	A	G	2: 60,206,307 (GRCm39)	Y121H	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Mllt10	C	A	2: 18,114,685 (GRCm39)	H52N	possibly damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo3b	C	A	2: 69,925,593 (GRCm39)	T20K	possibly damaging	Het
Nipsnap2	A	T	5: 129,816,644 (GRCm39)	K62N	probably damaging	Het
Nr1i3	C	T	1: 171,044,382 (GRCm39)	T169I	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Oprm1	A	G	10: 6,782,550 (GRCm39)	S398G	probably benign	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51k1	T	A	7: 103,661,325 (GRCm39)	R195W	probably damaging	Het
Or6k2	A	T	1: 173,986,527 (GRCm39)	I63F	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pitrm1	T	C	13: 6,603,226 (GRCm39)	F91S	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Pygb	C	T	2: 150,643,498 (GRCm39)	T95M	probably damaging	Het
Rassf9	A	G	10: 102,381,766 (GRCm39)	K383E	probably damaging	Het
Rfk	T	A	19: 17,375,963 (GRCm39)	F86I	possibly damaging	Het
Rims2	T	C	15: 39,325,986 (GRCm39)	F773L	probably benign	Het
Sdcbp	A	G	4: 6,393,019 (GRCm39)	I218V	probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spen	A	T	4: 141,249,613 (GRCm39)	S58R	unknown	Het
St3gal2	T	C	8: 111,684,350 (GRCm39)	C3R	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Stat5b	T	C	11: 100,699,361 (GRCm39)		probably null	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tmem26	A	G	10: 68,611,178 (GRCm39)	T216A	probably damaging	Het
Ttn	A	G	2: 76,550,822 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,602,709 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,576,746 (GRCm39)	V24716I	probably damaging	Het
Uba5	T	C	9: 103,931,626 (GRCm39)	E202G	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn2r111	C	A	17: 22,767,022 (GRCm39)	C825F	probably damaging	Het
Vmn2r113	T	A	17: 23,177,329 (GRCm39)	C704*	probably null	Het
Vmn2r56	A	G	7: 12,427,983 (GRCm39)	I761T	probably benign	Het
Vmn2r98	C	T	17: 19,286,306 (GRCm39)	T268I	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp473	T	A	7: 44,381,943 (GRCm39)	I797F	probably damaging	Het
Zfp68	A	T	5: 138,604,579 (GRCm39)	D543E	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
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'- CACACAATGGTCCTGGTACC -3'
(R):5'- AGCTGGGAGTCTCTGTTCAG -3'

Sequencing Primer
(F):5'- TGGTCCTGGTACCACAAAAG -3'
(R):5'- TCAGAAATGGTTTACCTGGCAGC -3'

Posted On

2016-06-06