Incidental Mutation 'IGL01349:Cry1'
ID |
75289 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cry1
|
Ensembl Gene |
ENSMUSG00000020038 |
Gene Name |
cryptochrome circadian regulator 1 |
Synonyms |
Phll1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01349
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
84967564-85020918 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84984603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020227]
|
AlphaFold |
P97784 |
PDB Structure |
Crystal Structure of Mouse Cryptochrome1 in Complex with Period2 [X-RAY DIFFRACTION]
Crystal structure of mouse Cryptochrome 1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020227
AA Change: V157A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020227 Gene: ENSMUSG00000020038 AA Change: V157A
Domain | Start | End | E-Value | Type |
Pfam:DNA_photolyase
|
5 |
168 |
1.4e-47 |
PFAM |
Pfam:FAD_binding_7
|
213 |
486 |
6.9e-91 |
PFAM |
internal_repeat_1
|
502 |
523 |
3.57e-8 |
PROSPERO |
internal_repeat_1
|
521 |
543 |
3.57e-8 |
PROSPERO |
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214248
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214675
AA Change: V47A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214805
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of this gene results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Feb 2014] PHENOTYPE: Homozygotes for targeted null mutations exhibit a one-hour shorter circadian period under constant darkness and reduced expression of another circadian gene in the suprachiasmatic nucleus in response to acute light exposure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,242,076 (GRCm39) |
S1313L |
probably benign |
Het |
Adam28 |
T |
C |
14: 68,848,455 (GRCm39) |
H667R |
probably benign |
Het |
Arap1 |
T |
C |
7: 101,036,359 (GRCm39) |
V382A |
possibly damaging |
Het |
Arih2 |
T |
C |
9: 108,482,609 (GRCm39) |
Y444C |
probably damaging |
Het |
Asxl3 |
T |
G |
18: 22,657,294 (GRCm39) |
V1768G |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,798,979 (GRCm39) |
M869K |
probably benign |
Het |
C4bp |
A |
G |
1: 130,570,665 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,881,126 (GRCm39) |
Y1167F |
probably benign |
Het |
Cgn |
T |
A |
3: 94,674,486 (GRCm39) |
K884* |
probably null |
Het |
Chd1l |
T |
C |
3: 97,498,550 (GRCm39) |
Y283C |
probably benign |
Het |
Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,050,978 (GRCm39) |
F918L |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,366,432 (GRCm39) |
N1890S |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,295,059 (GRCm39) |
|
probably benign |
Het |
Eif4b |
C |
T |
15: 101,999,858 (GRCm39) |
T412I |
probably benign |
Het |
Eloa |
A |
C |
4: 135,741,758 (GRCm39) |
Y29D |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,385,752 (GRCm39) |
F279S |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,718,207 (GRCm39) |
D316G |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,058,531 (GRCm39) |
S363G |
probably benign |
Het |
Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
Il17rd |
T |
A |
14: 26,817,901 (GRCm39) |
S197T |
probably damaging |
Het |
Iqsec3 |
T |
C |
6: 121,450,083 (GRCm39) |
E147G |
possibly damaging |
Het |
Itk |
T |
A |
11: 46,232,027 (GRCm39) |
T303S |
possibly damaging |
Het |
Kcnh6 |
A |
G |
11: 105,914,743 (GRCm39) |
D716G |
possibly damaging |
Het |
Lca5 |
A |
G |
9: 83,308,670 (GRCm39) |
S59P |
probably damaging |
Het |
Lrrc40 |
T |
C |
3: 157,764,302 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,699,335 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,359,983 (GRCm39) |
T4427A |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,734,472 (GRCm39) |
D513G |
possibly damaging |
Het |
Or2y1b |
T |
A |
11: 49,209,127 (GRCm39) |
Y251* |
probably null |
Het |
Pde7a |
C |
T |
3: 19,283,843 (GRCm39) |
|
probably benign |
Het |
Pira2 |
T |
C |
7: 3,847,138 (GRCm39) |
T135A |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,506,558 (GRCm39) |
Y397C |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,927,122 (GRCm39) |
M2187K |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,602,125 (GRCm39) |
I4586F |
possibly damaging |
Het |
Serpinb3c |
A |
T |
1: 107,200,513 (GRCm39) |
M210K |
probably damaging |
Het |
Slc22a19 |
C |
A |
19: 7,651,792 (GRCm39) |
V472F |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,528,863 (GRCm39) |
I462T |
probably benign |
Het |
Spag11b |
A |
T |
8: 19,191,492 (GRCm39) |
H55L |
probably damaging |
Het |
Trpv5 |
G |
T |
6: 41,652,309 (GRCm39) |
N125K |
possibly damaging |
Het |
Ubr4 |
G |
T |
4: 139,208,039 (GRCm39) |
R4940L |
unknown |
Het |
Vcan |
T |
A |
13: 89,852,062 (GRCm39) |
H966L |
probably damaging |
Het |
Vmn1r204 |
T |
A |
13: 22,740,504 (GRCm39) |
I45K |
probably damaging |
Het |
Vnn3 |
A |
T |
10: 23,727,814 (GRCm39) |
I75F |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,794,091 (GRCm39) |
M2256L |
probably benign |
Het |
Zfc3h1 |
T |
A |
10: 115,259,353 (GRCm39) |
L1642M |
probably damaging |
Het |
|
Other mutations in Cry1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00234:Cry1
|
APN |
10 |
84,982,698 (GRCm39) |
missense |
probably benign |
0.11 |
IGL00737:Cry1
|
APN |
10 |
84,978,904 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01544:Cry1
|
APN |
10 |
84,982,360 (GRCm39) |
nonsense |
probably null |
|
IGL01545:Cry1
|
APN |
10 |
85,020,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01767:Cry1
|
APN |
10 |
84,982,338 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Cry1
|
APN |
10 |
84,992,993 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0119:Cry1
|
UTSW |
10 |
84,969,104 (GRCm39) |
critical splice donor site |
probably null |
|
R0605:Cry1
|
UTSW |
10 |
85,020,223 (GRCm39) |
missense |
probably damaging |
0.96 |
R1618:Cry1
|
UTSW |
10 |
84,982,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1955:Cry1
|
UTSW |
10 |
84,980,042 (GRCm39) |
missense |
probably benign |
0.00 |
R2209:Cry1
|
UTSW |
10 |
84,982,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R2221:Cry1
|
UTSW |
10 |
84,979,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Cry1
|
UTSW |
10 |
84,979,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Cry1
|
UTSW |
10 |
84,969,175 (GRCm39) |
missense |
probably benign |
0.08 |
R3851:Cry1
|
UTSW |
10 |
84,982,363 (GRCm39) |
missense |
probably benign |
0.15 |
R3872:Cry1
|
UTSW |
10 |
84,969,024 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3981:Cry1
|
UTSW |
10 |
84,982,456 (GRCm39) |
missense |
probably damaging |
0.99 |
R4856:Cry1
|
UTSW |
10 |
84,984,634 (GRCm39) |
missense |
probably damaging |
0.97 |
R5162:Cry1
|
UTSW |
10 |
84,969,150 (GRCm39) |
missense |
probably benign |
|
R5404:Cry1
|
UTSW |
10 |
85,020,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Cry1
|
UTSW |
10 |
84,968,999 (GRCm39) |
missense |
probably benign |
0.17 |
R5484:Cry1
|
UTSW |
10 |
84,982,588 (GRCm39) |
splice site |
probably null |
|
R5599:Cry1
|
UTSW |
10 |
84,980,114 (GRCm39) |
missense |
probably benign |
0.14 |
R5717:Cry1
|
UTSW |
10 |
84,982,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Cry1
|
UTSW |
10 |
84,984,526 (GRCm39) |
missense |
probably benign |
0.00 |
R7371:Cry1
|
UTSW |
10 |
84,983,783 (GRCm39) |
missense |
probably benign |
0.03 |
R7943:Cry1
|
UTSW |
10 |
84,978,984 (GRCm39) |
missense |
probably benign |
0.03 |
R8022:Cry1
|
UTSW |
10 |
84,982,266 (GRCm39) |
missense |
probably damaging |
0.97 |
R8290:Cry1
|
UTSW |
10 |
84,978,977 (GRCm39) |
nonsense |
probably null |
|
R8805:Cry1
|
UTSW |
10 |
84,992,969 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Cry1
|
UTSW |
10 |
84,980,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-10-07 |