Mutagenetix > Incidental Mutation

Incidental Mutation 'R2075:Atic'

227489

Institutional Source

Beutler Lab

Gene Symbol

Atic

Ensembl Gene

ENSMUSG00000026192

Gene Name

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

Synonyms

2610509C24Rik

MMRRC Submission

040080-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71596315-71618562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71615286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 438 (D438E)

Ref Sequence

ENSEMBL: ENSMUSP00000027384 (fasta)

Gene Model

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

AlphaFold

Q9CWJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000027384
AA Change: D438E

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027384
Gene: ENSMUSG00000026192
AA Change: D438E

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,472,382 (GRCm39)	F4263L	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Bahcc1	G	A	11: 120,162,515 (GRCm39)	C271Y	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ccdc149	A	G	5: 52,596,510 (GRCm39)	L34P	probably damaging	Het
Cd22	C	G	7: 30,569,123 (GRCm39)	C637S	probably damaging	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,934,761 (GRCm39)	M65K	probably damaging	Het
Clec16a	G	A	16: 10,559,480 (GRCm39)	A918T	probably benign	Het
Clec2m	C	T	6: 129,303,666 (GRCm39)	E100K	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dhx32	T	C	7: 133,323,021 (GRCm39)	N731S	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dna2	A	G	10: 62,805,601 (GRCm39)	Q946R	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Esr2	A	G	12: 76,212,221 (GRCm39)		probably null	Het
Fbxo9	G	T	9: 77,991,798 (GRCm39)	H397N	possibly damaging	Het
Fsip2	T	A	2: 82,818,923 (GRCm39)	N4885K	possibly damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Hivep1	A	G	13: 42,309,794 (GRCm39)	D678G	probably damaging	Het
Hmcn1	T	A	1: 150,453,074 (GRCm39)	I5414F	possibly damaging	Het
Hspb2	T	C	9: 50,662,646 (GRCm39)	Y67C	probably benign	Het
Kbtbd8	T	A	6: 95,103,664 (GRCm39)	C438S	possibly damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Ky	A	G	9: 102,419,945 (GRCm39)	S651G	probably damaging	Het
Lgals12	T	C	19: 7,576,210 (GRCm39)	D238G	possibly damaging	Het
Lpcat3	T	A	6: 124,680,066 (GRCm39)	Y380N	probably damaging	Het
Mdn1	A	G	4: 32,716,058 (GRCm39)	H2080R	probably benign	Het
Mex3c	C	T	18: 73,722,840 (GRCm39)	S311L	probably benign	Het
Mlh3	A	T	12: 85,315,915 (GRCm39)	Y90*	probably null	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Myo5a	A	T	9: 75,097,200 (GRCm39)	T49S	probably benign	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or51b17	T	A	7: 103,542,127 (GRCm39)	I272F	probably damaging	Het
Or51i2	T	A	7: 103,689,180 (GRCm39)	M59K	probably damaging	Het
Or5ac19	T	C	16: 59,089,274 (GRCm39)	Y252C	possibly damaging	Het
Pdgfra	T	C	5: 75,348,609 (GRCm39)	I883T	probably damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf24	A	G	4: 42,939,507 (GRCm39)	Y333C	possibly damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Piezo2	C	T	18: 63,214,805 (GRCm39)	E1263K	probably damaging	Het
Pitrm1	A	G	13: 6,605,419 (GRCm39)	T149A	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Polr2c	A	G	8: 95,590,195 (GRCm39)	I267V	probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Prss8	C	A	7: 127,526,266 (GRCm39)	R148L	possibly damaging	Het
Ptpn2	T	A	18: 67,814,545 (GRCm39)	T155S	probably damaging	Het
Ptprn2	G	A	12: 117,211,337 (GRCm39)	V839I	probably benign	Het
Sbp	A	G	17: 24,164,132 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Slc6a20b	T	A	9: 123,424,099 (GRCm39)	T623S	probably benign	Het
Sqle	T	A	15: 59,195,750 (GRCm39)	V342E	probably damaging	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnc	G	A	4: 63,913,903 (GRCm39)	T1303M	possibly damaging	Het
Traf6	A	C	2: 101,527,398 (GRCm39)	I383L	probably benign	Het
Tubb3	C	T	8: 124,148,009 (GRCm39)	A314V	probably damaging	Het
Vmn1r199	A	T	13: 22,567,435 (GRCm39)	Y243F	probably damaging	Het
Vmn2r111	A	C	17: 22,778,043 (GRCm39)	N545K	probably damaging	Het
Vmn2r27	T	A	6: 124,177,510 (GRCm39)	Q498L	possibly damaging	Het
Vstm4	A	T	14: 32,639,811 (GRCm39)	S229C	probably damaging	Het
Wdr12	C	T	1: 60,130,222 (GRCm39)	R63Q	possibly damaging	Het
Wrn	T	A	8: 33,812,357 (GRCm39)	I187L	probably benign	Het
Xirp2	A	T	2: 67,340,545 (GRCm39)	I929L	probably benign	Het
Ywhae	T	A	11: 75,655,486 (GRCm39)	D252E	probably benign	Het
Zfp944	A	T	17: 22,558,178 (GRCm39)	C356*	probably null	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
R2402:Atic	UTSW	1	71,608,216 (GRCm39)	nonsense	probably null
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'- AATTTGTCCATCTGGCTGTCAC -3'
(R):5'- AAGCAGGAACCAGTGTACCC -3'

Sequencing Primer
(F):5'- TGTCACTGAGGGACCTAACTG -3'
(R):5'- AGTGTACCCAAGTGCAGTAC -3'

Posted On

2014-09-17