Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Atcay'

506961

Institutional Source

Beutler Lab

Gene Symbol

Atcay

Ensembl Gene

ENSMUSG00000034958

Gene Name

ataxia, cerebellar, Cayman type

Synonyms

3322401A10Rik, BNIP-H, ji

MMRRC Submission

044438-MU

Accession Numbers

Essential gene?

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

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81040342-81066667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81049114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 163 (E163K)

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: E163K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: E163K

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

0.1822

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	probably 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
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
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'- ATAAGCTGCCCAGTGTGCTG -3'
(R):5'- CTGGGACAAGACACCTGGATTC -3'

Sequencing Primer
(F):5'- AGTGTGCTGTCAGTCCATC -3'
(R):5'- GACACCTGGATTCACACCTCTC -3'

Posted On

2018-03-15