Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:A1cf'

174315

Institutional Source

Beutler Lab

Gene Symbol

A1cf

Ensembl Gene

ENSMUSG00000052595

Gene Name

APOBEC1 complementation factor

Synonyms

1810073H04Rik, apobec-1 complementation factor, ACF

MMRRC Submission

039653-MU

Accession Numbers

Essential gene?

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

Stock #

R1616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31846164-31926395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31912175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 430 (E430G)

Ref Sequence

ENSEMBL: ENSMUSP00000075235 (fasta)

Gene Model

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

AlphaFold

Q5YD48

Predicted Effect

probably damaging
Transcript: ENSMUST00000075838
AA Change: E430G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075235
Gene: ENSMUSG00000052595
AA Change: E430G

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: E422G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000224400

Predicted Effect

probably benign
Transcript: ENSMUST00000224564

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
Aacs	T	A	5: 125,561,590 (GRCm39)		probably null	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,096,728 (GRCm39)	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rock2	T	C	12: 17,022,986 (GRCm39)	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,214 (GRCm39)	C319S	probably null	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	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
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
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'- CCGTCCTCCGGGCAATAATCAATG -3'
(R):5'- GTCTCAGCAGCCACTCGAAGTATG -3'

Sequencing Primer
(F):5'- CCGGGCAATAATCAATGTGACTTG -3'
(R):5'- TGCTAAGCTGATTGCCACAG -3'

Posted On

2014-04-24