Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:Atcay'

285678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atcay

Ensembl Gene

ENSMUSG00000034958

Gene Name

ataxia, cerebellar, Cayman type

Synonyms

3322401A10Rik, BNIP-H, ji

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

81040342-81066667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81046382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 314 (V314E)

Ref Sequence

ENSEMBL: ENSMUSP00000036721 (fasta)

Gene Model

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

AlphaFold

Q8BHE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047408
AA Change: V314E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: V314E

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

Coding Region Coverage

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,094,413 (GRCm39)		probably benign	Het
Alox15	A	C	11: 70,240,382 (GRCm39)	D266E	probably benign	Het
Atp8b1	C	T	18: 64,683,455 (GRCm39)	G758R	possibly damaging	Het
Bltp2	G	A	11: 78,170,722 (GRCm39)	G1647D	probably benign	Het
Cacna2d4	T	A	6: 119,254,869 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,719,709 (GRCm39)	V2429A	probably damaging	Het
Clspn	T	G	4: 126,453,021 (GRCm39)	D11E	probably damaging	Het
Cnot3	A	G	7: 3,661,209 (GRCm39)	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Edem1	A	G	6: 108,805,849 (GRCm39)	D50G	probably benign	Het
Emilin3	G	A	2: 160,750,435 (GRCm39)	T438I	probably damaging	Het
Etfdh	C	T	3: 79,525,700 (GRCm39)	V173I	probably damaging	Het
Fat2	T	C	11: 55,171,918 (GRCm39)	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,292,469 (GRCm39)	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,292,470 (GRCm39)	E154V	probably damaging	Het
G3bp1	T	A	11: 55,386,273 (GRCm39)	L244*	probably null	Het
Itgae	A	T	11: 72,981,448 (GRCm39)	K2M	possibly damaging	Het
Kcnq2	T	C	2: 180,723,508 (GRCm39)	I654V	probably benign	Het
Ksr2	C	T	5: 117,638,841 (GRCm39)	R82C	probably damaging	Het
Lrig3	A	T	10: 125,833,041 (GRCm39)	D305V	probably damaging	Het
Me1	T	C	9: 86,493,908 (GRCm39)	K322E	possibly damaging	Het
Med12l	T	A	3: 59,153,303 (GRCm39)	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,772 (GRCm39)	K73E	possibly damaging	Het
Nup155	T	G	15: 8,173,548 (GRCm39)	L881R	probably damaging	Het
Ocln	A	T	13: 100,677,622 (GRCm39)	S2T	probably damaging	Het
Oosp3	T	C	19: 11,676,803 (GRCm39)	L54S	probably damaging	Het
Pkp3	G	A	7: 140,664,151 (GRCm39)	E443K	probably damaging	Het
Plk2	T	A	13: 110,536,603 (GRCm39)	C632S	probably benign	Het
Ptk6	C	T	2: 180,838,794 (GRCm39)	V320I	probably damaging	Het
Ptprt	A	T	2: 162,079,980 (GRCm39)	I273N	probably damaging	Het
Ptprt	A	G	2: 162,119,966 (GRCm39)		probably null	Het
Rab3gap2	T	C	1: 184,999,095 (GRCm39)		probably benign	Het
Rabgef1	G	A	5: 130,240,816 (GRCm39)	A312T	probably damaging	Het
Rabl6	T	A	2: 25,488,196 (GRCm39)	K109N	probably benign	Het
Rbp7	C	T	4: 149,539,334 (GRCm39)		probably null	Het
Reg3a	C	T	6: 78,359,224 (GRCm39)	H75Y	possibly damaging	Het
Rnf123	G	T	9: 107,943,598 (GRCm39)	P546T	probably benign	Het
Rnmt	C	A	18: 68,447,152 (GRCm39)	C345*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,252,236 (GRCm39)	S25N	possibly damaging	Het
Spata16	G	T	3: 26,967,413 (GRCm39)	G388W	probably damaging	Het
Speg	C	T	1: 75,400,031 (GRCm39)	R2493W	probably damaging	Het
Thada	T	A	17: 84,736,125 (GRCm39)	D970V	probably damaging	Het
Tmem184c	A	G	8: 78,331,441 (GRCm39)	Y103H	probably damaging	Het
Ttn	A	T	2: 76,628,440 (GRCm39)	D12827E	probably damaging	Het
Utp20	A	G	10: 88,627,030 (GRCm39)	L976S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp936	T	A	7: 42,836,909 (GRCm39)		probably null	Het

Other mutations in Atcay

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16