Mutagenetix > Incidental Mutation

Incidental Mutation 'R7381:Atcay'

572741

Institutional Source

Beutler Lab

Gene Symbol

Atcay

Ensembl Gene

ENSMUSG00000034958

Gene Name

ataxia, cerebellar, Cayman type

Synonyms

3322401A10Rik, ji, BNIP-H

MMRRC Submission

Accession Numbers

Genbank: NM_178662; MGI: 2448730

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81204508-81230833 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81210597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 298 (Y298H)

Ref Sequence

ENSEMBL: ENSMUSP00000036721 (fasta)

Gene Model

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

AlphaFold

Q8BHE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047408
AA Change: Y298H

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: Y298H

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

probably benign
Transcript: ENSMUST00000146030

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (88/90)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	T	11: 76,003,007	D70V	probably damaging	Het
4930550C14Rik	T	C	9: 53,411,822	Y53H	probably damaging	Het
Abca8a	A	T	11: 110,030,087		probably null	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Acsm3	A	G	7: 119,780,826	D462G	probably damaging	Het
Adam39	T	A	8: 40,825,963	C464S	probably damaging	Het
Adgra3	A	G	5: 50,058,774	M1T	probably null	Het
AI182371	T	C	2: 35,085,359	Y276C	probably damaging	Het
Ank2	T	A	3: 126,936,628	H719L	possibly damaging	Het
Ano7	G	A	1: 93,395,335	V466I	probably benign	Het
Art5	A	G	7: 102,098,170	L134P	probably damaging	Het
Atp1a4	A	T	1: 172,240,115	F527Y	possibly damaging	Het
Bpifb2	A	T	2: 153,892,348	M428L	probably benign	Het
Brinp2	A	C	1: 158,246,343	V736G	probably benign	Het
Cdc5l	C	T	17: 45,411,923	A437T	probably benign	Het
Cdx2	G	A	5: 147,306,630	P118L	possibly damaging	Het
Chpt1	G	A	10: 88,475,331		probably null	Het
Creb3l2	T	A	6: 37,335,848	E417V	probably damaging	Het
Csnk2a1	A	G	2: 152,258,694	T129A	probably benign	Het
Dennd6b	A	T	15: 89,186,173	L431Q	possibly damaging	Het
Dgkz	C	T	2: 91,944,835	A260T	probably benign	Het
Dhx34	T	A	7: 16,215,448	T352S	probably benign	Het
Elp4	C	T	2: 105,792,307	R349Q	not run	Het
Emsy	A	C	7: 98,590,803	F1228V	probably damaging	Het
Eps8l1	T	A	7: 4,470,438		probably null	Het
Faf1	T	A	4: 109,861,937	D413E	probably damaging	Het
Fam71e2	C	A	7: 4,757,682	R677L		Het
Fat3	T	C	9: 16,246,987	Y1109C	probably damaging	Het
Fbp1	T	C	13: 62,865,053	K314E	probably benign	Het
Fbxl20	A	G	11: 98,090,788	V358A	probably benign	Het
Fbxo34	C	G	14: 47,530,535	R502G	probably benign	Het
Fxr2	G	A	11: 69,642,049	C151Y	possibly damaging	Het
Gja8	T	C	3: 96,920,022	D108G	probably benign	Het
Gm10722	C	A	9: 3,001,235	L104I	probably benign	Het
Grsf1	A	G	5: 88,665,807	V361A	probably benign	Het
Gsap	T	A	5: 21,226,787	I228N	probably damaging	Het
Hagh	T	C	17: 24,856,712	I131T	probably damaging	Het
Heca	A	T	10: 17,915,524	Y261*	probably null	Het
Hipk3	A	G	2: 104,439,351	F498L	probably damaging	Het
Hps4	T	A	5: 112,375,458	I614N	possibly damaging	Het
Icam1	T	C	9: 21,027,590	S450P	probably benign	Het
Il22	G	A	10: 118,205,164	M58I	possibly damaging	Het
Khdrbs2	T	A	1: 32,333,802	S186T	not run	Het
Kif16b	A	G	2: 142,857,423	F79S	probably damaging	Het
Kntc1	C	A	5: 123,810,908	F1905L	probably benign	Het
Lrp1b	C	T	2: 40,802,917	G3423D		Het
Lrp5	G	T	19: 3,593,588	Q1346K	probably benign	Het
Map3k21	A	C	8: 125,944,978	T1002P	possibly damaging	Het
Mdga2	G	T	12: 66,568,896	R646S	probably benign	Het
Mex3b	G	T	7: 82,868,865	M129I	possibly damaging	Het
Mfsd10	G	T	5: 34,636,426	N85K	probably damaging	Het
Mios	A	G	6: 8,216,064	D420G	probably damaging	Het
Mogs	C	A	6: 83,115,632	P18T	unknown	Het
Mrgpre	A	G	7: 143,781,413	C118R	probably damaging	Het
Muc4	A	T	16: 32,780,915	H1321L		Het
Nkapl	T	C	13: 21,467,589	K285E	probably damaging	Het
Nphp4	C	T	4: 152,499,003	P200S	possibly damaging	Het
Piezo1	A	G	8: 122,501,658	F297L		Het
Pkhd1	T	G	1: 20,200,973	S3119R	probably damaging	Het
Pla2g15	G	A	8: 106,162,944	V283I	probably benign	Het
Ppp1r13l	T	A	7: 19,368,861		probably null	Het
Prex1	A	G	2: 166,587,127	Y849H	probably damaging	Het
Psg27	C	A	7: 18,567,083	W15L	probably benign	Het
Ptar1	A	T	19: 23,708,970		probably null	Het
Ptpn6	G	A	6: 124,728,172	R264C	probably damaging	Het
Ptprb	A	G	10: 116,341,133	I988V	probably benign	Het
Ptpro	G	A	6: 137,399,561	V680I	possibly damaging	Het
Rnf170	C	T	8: 26,123,848	P28S	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Rtel1	C	T	2: 181,330,815	R29*	probably null	Het
Rtkn	T	C	6: 83,151,745	L26P	probably damaging	Het
Sdk2	A	C	11: 113,838,489	S1087R	probably damaging	Het
Sema7a	C	T	9: 57,953,569	P71L	probably benign	Het
Sgpp1	C	T	12: 75,716,264	C381Y	probably damaging	Het
Sis	A	T	3: 72,913,292		probably null	Het
Slc24a5	A	C	2: 125,068,949	D100A	probably benign	Het
Slc25a23	A	T	17: 57,053,587	I251K	probably damaging	Het
Slc6a5	T	A	7: 49,930,056	L394H	probably damaging	Het
Slc7a4	A	T	16: 17,575,056	M293K	probably damaging	Het
Syne2	T	A	12: 75,926,489	S1089T	probably benign	Het
Tanc1	A	T	2: 59,785,326	T226S	probably damaging	Het
Tdrd6	T	C	17: 43,626,093	T1355A	probably benign	Het
Tmem101	A	G	11: 102,153,350	M237T	possibly damaging	Het
Ttn	G	A	2: 76,919,015	H3897Y	possibly damaging	Het
Tubb4a	C	T	17: 57,080,698	V443M	unknown	Het
Ucp2	G	A	7: 100,498,369	R185H	possibly damaging	Het
Vmn1r116	G	T	7: 20,872,511	E86*	probably null	Het
Vmn2r37	T	C	7: 9,210,033	E530G	probably benign	Het
Vwa8	A	G	14: 79,095,685	T1293A	probably benign	Het
Zfc3h1	T	A	10: 115,424,630	Y1711N	probably benign	Het
Zfp873	A	T	10: 82,060,971	E512V	probably damaging	Het
Zfyve16	T	A	13: 92,521,146	K752N	probably damaging	Het
Zhx1	T	C	15: 58,053,165	N562D	possibly damaging	Het

Other mutations in Atcay

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02231:Atcay	APN	10	81210548	missense	probably damaging	1.00
IGL03493:Atcay	APN	10	81210573	nonsense	probably null
wobbley	UTSW	10	81220573	intron	probably benign
PIT4453001:Atcay	UTSW	10	81210549	missense	probably damaging	0.99
R0040:Atcay	UTSW	10	81210519	splice site	probably null
R0040:Atcay	UTSW	10	81210519	splice site	probably null
R0113:Atcay	UTSW	10	81214720	critical splice donor site	probably null
R0441:Atcay	UTSW	10	81224460	missense	possibly damaging	0.71
R1655:Atcay	UTSW	10	81213397	missense	probably damaging	1.00
R1709:Atcay	UTSW	10	81213231	missense	probably damaging	1.00
R1955:Atcay	UTSW	10	81214793	missense	possibly damaging	0.95
R1968:Atcay	UTSW	10	81212478	missense	possibly damaging	0.65
R2298:Atcay	UTSW	10	81210563	missense	probably damaging	1.00
R4472:Atcay	UTSW	10	81212527	missense	possibly damaging	0.78
R6265:Atcay	UTSW	10	81213280	missense	possibly damaging	0.94
R6322:Atcay	UTSW	10	81213291	missense	probably damaging	0.98
R7251:Atcay	UTSW	10	81210532	nonsense	probably null
R8277:Atcay	UTSW	10	81214812	missense	probably damaging	1.00
R8403:Atcay	UTSW	10	81212948	missense	probably damaging	1.00
R8859:Atcay	UTSW	10	81224464	missense	probably benign	0.01
R9542:Atcay	UTSW	10	81207852	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCTGAACTGAGTATTGAGATGAG -3'
(R):5'- TTCACAAAGGCCACTGGGAC -3'

Sequencing Primer
(F):5'- TTAGAGTGCAGTTCCCACAG -3'
(R):5'- GCCACTGGGACAATCCATGAG -3'

Posted On

2019-09-13