Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Atcay'

15547

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: 0.109) 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: 84.2%
3x: 77.3%
10x: 61.4%
20x: 43.8%

Validation Efficiency

96% (74/77)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,622,165 (GRCm39)	L356R	possibly damaging	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
Arpp21	T	C	9: 111,976,477 (GRCm39)		probably benign	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Cacng5	A	T	11: 107,775,336 (GRCm39)	L11Q	probably damaging	Het
Ccdc73	T	C	2: 104,822,429 (GRCm39)	S793P	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Csmd3	G	A	15: 47,497,212 (GRCm39)	P3062S	probably damaging	Het
Dctn4	A	G	18: 60,677,114 (GRCm39)	N145D	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably 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
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gucy2g	T	A	19: 55,205,734 (GRCm39)	T709S	possibly damaging	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		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
Kri1	T	C	9: 21,192,401 (GRCm39)	Y131C	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lox	A	T	18: 52,653,898 (GRCm39)	H399Q	possibly damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Mpp7	A	T	18: 7,403,180 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Olfml2b	A	G	1: 170,496,320 (GRCm39)	H317R	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
Pira6	A	G	7: 4,284,482 (GRCm39)		noncoding transcript	Het
Pkhd1l1	T	A	15: 44,437,021 (GRCm39)	Y3460N	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rnf168	T	A	16: 32,096,991 (GRCm39)		probably null	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Scara5	C	T	14: 66,000,166 (GRCm39)		probably benign	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Synpr	G	A	14: 13,563,024 (GRCm38)	A86T	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	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
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zfp867	C	T	11: 59,354,691 (GRCm39)	A213T	possibly damaging	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

Posted On

2012-12-21