Mutagenetix > Incidental Mutation

Incidental Mutation 'R2402:Atic'

248718

Institutional Source

Beutler Lab

Gene Symbol

Atic

Ensembl Gene

ENSMUSG00000026192

Gene Name

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

Synonyms

2610509C24Rik

MMRRC Submission

040368-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R2402 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71596315-71618562 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 71608216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 303 (Y303*)

Ref Sequence

ENSEMBL: ENSMUSP00000027384 (fasta)

Gene Model

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

AlphaFold

Q9CWJ9

Predicted Effect

probably null
Transcript: ENSMUST00000027384
AA Change: Y303*

SMART Domains

Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: Y303*

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: ENSMUST00000154855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155769

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.6%
20x: 92.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,235,770 (GRCm39)	D1199V	probably damaging	Het
Abcc6	A	T	7: 45,664,999 (GRCm39)	S277R	probably benign	Het
Acvrl1	A	G	15: 101,035,280 (GRCm39)	S269G	probably damaging	Het
Akap10	T	C	11: 61,806,048 (GRCm39)	S227G	probably benign	Het
Angptl8	T	C	9: 21,747,112 (GRCm39)		probably null	Het
Arsi	T	C	18: 61,049,539 (GRCm39)	S141P	possibly damaging	Het
Bbs9	C	T	9: 22,557,359 (GRCm39)	P510L	probably benign	Het
Bcl2a1b	A	G	9: 89,081,795 (GRCm39)	N128S	probably benign	Het
Bcl2a1d	A	T	9: 88,613,549 (GRCm39)	M75K	probably damaging	Het
Carm1	T	A	9: 21,494,836 (GRCm39)	L324Q	probably damaging	Het
Caskin1	T	A	17: 24,722,782 (GRCm39)	L550Q	probably damaging	Het
Cd302	A	G	2: 60,087,412 (GRCm39)	I142T	probably benign	Het
Cep350	A	T	1: 155,738,882 (GRCm39)	D2320E	probably benign	Het
Cgnl1	A	G	9: 71,632,461 (GRCm39)	S297P	probably damaging	Het
Cr1l	T	A	1: 194,789,210 (GRCm39)	Y398F	probably benign	Het
Ctsa	A	T	2: 164,676,813 (GRCm39)	D145V	probably benign	Het
Ctsj	C	T	13: 61,148,388 (GRCm39)	G303D	probably damaging	Het
Dnah17	T	C	11: 118,016,800 (GRCm39)	I250M	probably benign	Het
Doc2a	C	A	7: 126,447,919 (GRCm39)	C54*	probably null	Het
Dpy19l2	T	C	9: 24,492,544 (GRCm39)	T685A	probably damaging	Het
Dtna	T	A	18: 23,728,535 (GRCm39)	C243*	probably null	Het
Exoc3l4	A	G	12: 111,388,690 (GRCm39)	T60A	possibly damaging	Het
Exph5	C	A	9: 53,286,225 (GRCm39)	S1102*	probably null	Het
Fhl3	T	C	4: 124,599,481 (GRCm39)	Y19H	probably damaging	Het
Flt4	A	G	11: 49,528,646 (GRCm39)	E1012G	possibly damaging	Het
Flvcr2	A	G	12: 85,829,777 (GRCm39)	N262S	probably benign	Het
Gon4l	G	T	3: 88,766,350 (GRCm39)	C463F	probably damaging	Het
H2-T10	A	T	17: 36,428,631 (GRCm39)		probably null	Het
Heatr3	T	C	8: 88,871,200 (GRCm39)	C185R	probably benign	Het
Hectd1	A	G	12: 51,792,317 (GRCm39)	V2474A	probably benign	Het
Htr3a	C	T	9: 48,812,795 (GRCm39)	E215K	probably damaging	Het
Ica1l	T	C	1: 60,045,451 (GRCm39)	T271A	probably benign	Het
Klra2	A	G	6: 131,220,864 (GRCm39)	I66T	probably benign	Het
Neto2	T	C	8: 86,417,541 (GRCm39)	K21R	probably benign	Het
Niban1	A	G	1: 151,565,365 (GRCm39)	T232A	probably benign	Het
Nisch	T	A	14: 30,906,971 (GRCm39)		probably benign	Het
Nr4a1	G	T	15: 101,169,618 (GRCm39)	R296L	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or7g19	T	A	9: 18,856,496 (GRCm39)	I184N	probably damaging	Het
Or8b50	T	C	9: 38,518,397 (GRCm39)	V212A	probably benign	Het
Pcsk5	A	T	19: 17,452,198 (GRCm39)	C1102*	probably null	Het
Phip	C	T	9: 82,757,358 (GRCm39)	A1605T	probably benign	Het
Pstpip2	T	A	18: 77,942,564 (GRCm39)	M105K	possibly damaging	Het
Qprt	C	T	7: 126,707,532 (GRCm39)	V219I	probably benign	Het
Ralgapa2	A	T	2: 146,195,112 (GRCm39)	N1271K	probably damaging	Het
Reg3g	A	T	6: 78,444,475 (GRCm39)	L106H	probably damaging	Het
Rhobtb1	G	A	10: 69,106,254 (GRCm39)	G273D	probably benign	Het
Rimbp2	T	C	5: 128,861,952 (GRCm39)	D771G	probably damaging	Het
Sos2	T	C	12: 69,643,573 (GRCm39)	I935V	possibly damaging	Het
Tcf12	A	T	9: 71,763,792 (GRCm39)	N397K	probably damaging	Het
Tgtp2	T	C	11: 48,949,957 (GRCm39)	Q205R	probably benign	Het
Tle5	T	A	10: 81,400,712 (GRCm39)	C89S	possibly damaging	Het
Tubb2b	T	C	13: 34,312,209 (GRCm39)	N195D	probably benign	Het
Unc13b	A	G	4: 43,095,843 (GRCm39)	T84A	probably benign	Het
Usb1	T	A	8: 96,069,759 (GRCm39)	F102L	probably benign	Het
Vmn2r61	A	G	7: 41,949,529 (GRCm39)	T650A	possibly damaging	Het
Zbtb41	A	C	1: 139,350,923 (GRCm39)	D12A	probably benign	Het
Zbtb41	G	T	1: 139,350,925 (GRCm39)	E13*	probably null	Het
Zfp821	C	T	8: 110,447,872 (GRCm39)	S71F	probably damaging	Het

Other mutations in Atic

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Atic	APN	1	71,609,996 (GRCm39)	splice site	probably benign
IGL02368:Atic	APN	1	71,603,724 (GRCm39)	splice site	probably benign
IGL03291:Atic	APN	1	71,610,081 (GRCm39)	missense	probably benign	0.06
3-1:Atic	UTSW	1	71,600,054 (GRCm39)	nonsense	probably null
R0039:Atic	UTSW	1	71,617,009 (GRCm39)	missense	possibly damaging	0.95
R0039:Atic	UTSW	1	71,617,009 (GRCm39)	missense	possibly damaging	0.95
R0558:Atic	UTSW	1	71,602,947 (GRCm39)	missense	probably benign	0.00
R1222:Atic	UTSW	1	71,598,438 (GRCm39)	missense	probably damaging	1.00
R1662:Atic	UTSW	1	71,615,286 (GRCm39)	missense	probably benign	0.06
R2075:Atic	UTSW	1	71,615,286 (GRCm39)	missense	probably benign	0.06
R2475:Atic	UTSW	1	71,598,428 (GRCm39)	missense	probably damaging	1.00
R2566:Atic	UTSW	1	71,608,130 (GRCm39)	missense	probably damaging	0.98
R3711:Atic	UTSW	1	71,617,738 (GRCm39)	missense	probably benign	0.02
R5115:Atic	UTSW	1	71,596,434 (GRCm39)	critical splice donor site	probably null
R5215:Atic	UTSW	1	71,603,666 (GRCm39)	missense	probably damaging	0.98
R5444:Atic	UTSW	1	71,615,876 (GRCm39)	missense	probably damaging	0.96
R6348:Atic	UTSW	1	71,615,857 (GRCm39)	missense	probably damaging	1.00
R6370:Atic	UTSW	1	71,617,819 (GRCm39)	missense	probably damaging	1.00
R6374:Atic	UTSW	1	71,604,100 (GRCm39)	missense	probably damaging	1.00
R6909:Atic	UTSW	1	71,616,005 (GRCm39)	splice site	probably null
R7224:Atic	UTSW	1	71,610,014 (GRCm39)	missense	probably benign
R7444:Atic	UTSW	1	71,602,946 (GRCm39)	missense	probably benign	0.05
R7724:Atic	UTSW	1	71,604,060 (GRCm39)	missense	probably damaging	1.00
R8171:Atic	UTSW	1	71,609,032 (GRCm39)	missense	possibly damaging	0.84
R9167:Atic	UTSW	1	71,604,040 (GRCm39)	missense	probably benign	0.21
R9204:Atic	UTSW	1	71,603,636 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTGCATGTTTTACCACTGC -3'
(R):5'- TCATGAACTAGTCTCTGCTGGTC -3'

Sequencing Primer
(F):5'- AAAAGTAGCAATCTGAGGTTTTAGG -3'
(R):5'- GAACTAGTCTCTGCTGGTCATTATAC -3'

Posted On

2014-11-11