Mutagenetix > Incidental Mutations

Incidental Mutation 'R0558:Atic'

45691

Institutional Source

Beutler Lab

Gene Symbol

Atic

Ensembl Gene

ENSMUSG00000026192

Gene Name

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

Synonyms

2610509C24Rik

MMRRC Submission

038750-MU

Accession Numbers

Genbank: NM_026195; MGI: 1351352

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71557150-71579631 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71563788 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 107 (V107E)

Ref Sequence

ENSEMBL: ENSMUSP00000027384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027384]

Predicted Effect

probably benign
Transcript: ENSMUST00000027384
AA Change: V107E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: V107E

Domain	Start	End	E-Value	Type
MGS	16	130	1.31e-46	SMART
AICARFT_IMPCHas	135	462	4.84e-132	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187982

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	T	C	17: 25,947,549	N338S	probably benign	Het
Abcc2	G	A	19: 43,800,724	G273R	probably benign	Het
Adamts10	T	C	17: 33,550,609	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,673,121	D90G	probably damaging	Het
Atp4b	T	C	8: 13,393,523	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,434,808	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,724,387		probably benign	Het
Cd226	T	A	18: 89,207,214	H78Q	probably benign	Het
Cers3	A	G	7: 66,783,418	D161G	probably damaging	Het
Ces1f	T	C	8: 93,275,389	H37R	probably benign	Het
Chek1	T	A	9: 36,712,115	N421I	possibly damaging	Het
Cma2	T	C	14: 55,972,792	Y45H	probably damaging	Het
Cmas	C	A	6: 142,775,244	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,444,634	S492T	probably benign	Het
Dnah12	T	C	14: 26,709,310	S358P	probably benign	Het
Dnajc13	T	C	9: 104,201,952		probably null	Het
Ep400	A	C	5: 110,685,067		probably benign	Het
Fam209	T	A	2: 172,472,838	N82K	probably benign	Het
Fam92a	T	C	4: 12,164,095	D248G	probably damaging	Het
G3bp2	A	T	5: 92,073,197	Y20N	probably damaging	Het
Gli2	T	C	1: 118,837,649	D924G	probably benign	Het
Gm10787	T	C	10: 77,022,016		noncoding transcript	Het
Gm11568	A	G	11: 99,858,046	R26G	unknown	Het
Gm4788	A	G	1: 139,739,492	V376A	probably damaging	Het
Hivep3	T	G	4: 120,096,566	L693R	probably damaging	Het
Hook1	A	G	4: 95,993,212		probably benign	Het
Ibtk	A	C	9: 85,737,538	D116E	probably damaging	Het
Insrr	C	T	3: 87,810,981	T927I	possibly damaging	Het
Irx1	T	G	13: 71,959,628	S312R	probably benign	Het
Itga11	T	C	9: 62,752,288	Y441H	probably benign	Het
Itsn1	A	G	16: 91,899,623	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,669,421	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,436,301	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,760,963		noncoding transcript	Het
Lars	T	G	18: 42,214,837	I974L	probably benign	Het
Limch1	A	G	5: 66,969,155	D42G	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,418,864	I393T	probably benign	Het
Mpl	A	C	4: 118,444,020	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,410,268	S754P	possibly damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr1233	A	G	2: 89,340,236	L22P	probably benign	Het
Olfr1350	T	C	7: 6,570,653	Y221H	possibly damaging	Het
Olfr1537	T	A	9: 39,238,200	T75S	probably damaging	Het
P2rx7	A	T	5: 122,673,798	I391F	possibly damaging	Het
Pbrm1	T	A	14: 31,085,059		probably null	Het
Pcdh8	T	C	14: 79,770,076	D349G	probably damaging	Het
Pias1	A	G	9: 62,882,009	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,484,424	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,837,935	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,774,087	S375T	probably benign	Het
Prkar1b	C	T	5: 139,020,092	V313M	probably benign	Het
Ptpn13	T	C	5: 103,529,717	S734P	probably damaging	Het
Rdh1	T	C	10: 127,759,941	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,949,338	I285L	probably benign	Het
Rubcnl	T	C	14: 75,047,547	F502S	probably damaging	Het
Ryr2	T	A	13: 11,638,443	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,799,861	Y675C	probably damaging	Het
Scaper	T	C	9: 55,685,923	T477A	probably benign	Het
Scn2a	G	T	2: 65,711,925	V791L	probably benign	Het
Sdk1	A	T	5: 142,132,065	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,714,415	H483L	probably benign	Het
Sema6c	T	C	3: 95,168,691	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,335,117	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,344,383	G139S	possibly damaging	Het
Slc34a3	C	T	2: 25,233,065		probably benign	Het
Slc38a9	A	T	13: 112,729,196		probably null	Het
Taok1	A	C	11: 77,559,844	S367R	possibly damaging	Het
Tlr6	G	A	5: 64,954,860	Q235*	probably null	Het
Top2a	A	G	11: 98,996,839	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,675,782	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,653,462	T288A	probably benign	Het
Ubr4	A	G	4: 139,426,902	E2140G	probably benign	Het
Uso1	A	G	5: 92,174,019	Q257R	probably benign	Het
Zfp106	A	G	2: 120,532,196	V48A	probably damaging	Het
Zfp174	T	A	16: 3,848,254	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,445,055	D426V	probably benign	Het

Other mutations in Atic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Atic	APN	1	71570837	splice site	probably benign
IGL02368:Atic	APN	1	71564565	splice site	probably benign
IGL03291:Atic	APN	1	71570922	missense	probably benign	0.06
3-1:Atic	UTSW	1	71560895	nonsense	probably null
R0039:Atic	UTSW	1	71577850	missense	possibly damaging	0.95
R0039:Atic	UTSW	1	71577850	missense	possibly damaging	0.95
R1222:Atic	UTSW	1	71559279	missense	probably damaging	1.00
R1662:Atic	UTSW	1	71576127	missense	probably benign	0.06
R2075:Atic	UTSW	1	71576127	missense	probably benign	0.06
R2402:Atic	UTSW	1	71569057	nonsense	probably null
R2475:Atic	UTSW	1	71559269	missense	probably damaging	1.00
R2566:Atic	UTSW	1	71568971	missense	probably damaging	0.98
R3711:Atic	UTSW	1	71578579	missense	probably benign	0.02
R5115:Atic	UTSW	1	71557275	critical splice donor site	probably null
R5215:Atic	UTSW	1	71564507	missense	probably damaging	0.98
R5444:Atic	UTSW	1	71576717	missense	probably damaging	0.96
R6348:Atic	UTSW	1	71576698	missense	probably damaging	1.00
R6370:Atic	UTSW	1	71578660	missense	probably damaging	1.00
R6374:Atic	UTSW	1	71564941	missense	probably damaging	1.00
R6909:Atic	UTSW	1	71576846	splice site	probably null
R7224:Atic	UTSW	1	71570855	missense	probably benign
R7444:Atic	UTSW	1	71563787	missense	probably benign	0.05
R7724:Atic	UTSW	1	71564901	missense	probably damaging	1.00
R8171:Atic	UTSW	1	71569873	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCAGCAGGCTTACAGTTTGTGGTC -3'
(R):5'- TCTCAGTAATGTCACGCCACCTTTG -3'

Sequencing Primer
(F):5'- CTAGATCTTCCCAGGTCTTGATCAC -3'
(R):5'- gagactaaggcaggaggattac -3'

Posted On

2013-06-11