Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Atcay'

216039

Institutional Source

Beutler Lab

Gene Symbol

Atcay

Ensembl Gene

ENSMUSG00000034958

Gene Name

ataxia, cerebellar, Cayman type

Synonyms

3322401A10Rik, BNIP-H, ji

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

81040342-81066667 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 81046353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047408] [ENSMUST00000146030]

AlphaFold

Q8BHE3

Predicted Effect

probably null
Transcript: ENSMUST00000047408

SMART Domains

Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958

Domain	Start	End	E-Value	Type
Pfam:BNIP2	59	187	7.7e-47	PFAM
Pfam:CRAL_TRIO_2	188	326	8.6e-35	PFAM
Pfam:CRAL_TRIO	205	318	5.3e-10	PFAM
low complexity region	352	369	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133555

Predicted Effect

probably benign
Transcript: ENSMUST00000146030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150782

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants homozygous for a severe allele show progressive impaired coordination and seizures beginning by 10-16 days of age and die by 4 weeks of age. Homozygotes for milder alleles have abnormal gait, slightly diminished body size and reduced male fertility. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(1) Spontaneous(4) Chemically induced(1)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Atad5	A	G	11: 79,988,840 (GRCm39)	T666A	probably benign	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,812,901 (GRCm39)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 86,948,795 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,872,899 (GRCm39)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,153,805 (GRCm39)		probably benign	Het
Fbxo44	A	G	4: 148,243,152 (GRCm39)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gm9955	G	T	18: 24,842,209 (GRCm39)		probably benign	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Hspa12a	T	C	19: 58,788,056 (GRCm39)	T589A	probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kpna1	T	A	16: 35,843,611 (GRCm39)	D328E	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lrrc37	G	A	11: 103,433,816 (GRCm39)	P942S	probably damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Med1	C	T	11: 98,057,081 (GRCm39)		probably null	Het
Mif	T	A	10: 75,695,614 (GRCm39)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nme2	A	T	11: 93,842,756 (GRCm39)		probably null	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Nup210l	T	A	3: 90,089,212 (GRCm39)	V1165D	probably damaging	Het
Nup98	T	A	7: 101,841,241 (GRCm39)	T122S	probably damaging	Het
Or14a258	A	T	7: 86,035,715 (GRCm39)	L51Q	probably benign	Het
Or1n2	T	C	2: 36,797,470 (GRCm39)	F171L	probably damaging	Het
Or5j1	C	T	2: 86,879,548 (GRCm39)	E11K	probably damaging	Het
Or6c202	T	A	10: 128,996,608 (GRCm39)	I82L	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Phrf1	G	T	7: 140,823,770 (GRCm39)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rbm39	G	A	2: 155,990,099 (GRCm39)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,286,616 (GRCm39)	S40N	probably damaging	Het
Runx2	G	A	17: 44,919,141 (GRCm39)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,092,092 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,242,879 (GRCm39)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,816,346 (GRCm39)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,223,492 (GRCm39)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		probably null	Het

Other mutations in Atcay

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:Atcay	APN	10	81,046,382 (GRCm39)	missense	probably damaging	1.00
IGL03493:Atcay	APN	10	81,046,407 (GRCm39)	nonsense	probably null
wobbley	UTSW	10	81,220,573 (GRCm38)	intron	probably benign
PIT4453001:Atcay	UTSW	10	81,046,383 (GRCm39)	missense	probably damaging	0.99
R0040:Atcay	UTSW	10	81,046,353 (GRCm39)	splice site	probably null
R0113:Atcay	UTSW	10	81,050,554 (GRCm39)	critical splice donor site	probably null
R0441:Atcay	UTSW	10	81,060,294 (GRCm39)	missense	possibly damaging	0.71
R1655:Atcay	UTSW	10	81,049,231 (GRCm39)	missense	probably damaging	1.00
R1709:Atcay	UTSW	10	81,049,065 (GRCm39)	missense	probably damaging	1.00
R1955:Atcay	UTSW	10	81,050,627 (GRCm39)	missense	possibly damaging	0.95
R1968:Atcay	UTSW	10	81,048,312 (GRCm39)	missense	possibly damaging	0.65
R2298:Atcay	UTSW	10	81,046,397 (GRCm39)	missense	probably damaging	1.00
R4472:Atcay	UTSW	10	81,048,361 (GRCm39)	missense	possibly damaging	0.78
R6265:Atcay	UTSW	10	81,049,114 (GRCm39)	missense	possibly damaging	0.94
R6322:Atcay	UTSW	10	81,049,125 (GRCm39)	missense	probably damaging	0.98
R7251:Atcay	UTSW	10	81,046,366 (GRCm39)	nonsense	probably null
R7381:Atcay	UTSW	10	81,046,431 (GRCm39)	missense	possibly damaging	0.61
R8277:Atcay	UTSW	10	81,050,646 (GRCm39)	missense	probably damaging	1.00
R8403:Atcay	UTSW	10	81,048,782 (GRCm39)	missense	probably damaging	1.00
R8859:Atcay	UTSW	10	81,060,298 (GRCm39)	missense	probably benign	0.01
R9542:Atcay	UTSW	10	81,043,686 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2014-07-17