Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Atcay'

189040

Institutional Source

Beutler Lab

Gene Symbol

Atcay

Ensembl Gene

ENSMUSG00000034958

Gene Name

ataxia, cerebellar, Cayman type

Synonyms

3322401A10Rik, BNIP-H, ji

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

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

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81040342-81066667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81049231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 124 (V124M)

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: V124M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: V124M

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

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	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
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
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

PCR Primer
(F):5'- AGAAGACCCTTGACAGAACCCTGG -3'
(R):5'- AACCCTGAGTGGGCTTCATTATGC -3'

Sequencing Primer
(F):5'- AGAACCCTGGTCGCTGTG -3'
(R):5'- GCTTCATTATGCTGGGCAAG -3'

Posted On

2014-05-09