Incidental Mutation 'R2298:Atcay'
| ID |
245230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atcay
|
| Ensembl Gene |
ENSMUSG00000034958 |
| Gene Name |
ataxia, cerebellar, Cayman type |
| Synonyms |
3322401A10Rik, BNIP-H, ji |
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81040342-81066667 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81046397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 309
(I309N)
|
| 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: I309N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036721
Gene: ENSMUSG00000034958
AA Change: I309N
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
probably benign |
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 |
|
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'- ACTGAGTATTGAGATGAGGTTTCAG -3'
(R):5'- AGTTCACAAAGGCCACTGGG -3'
Sequencing Primer
(F):5'- TTAGAGTGCAGTTCCCACAG -3'
(R):5'- GCCACTGGGACAATCCATGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation