Incidental Mutation 'IGL03392:Cry1'
| ID |
421085 |
| 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 # |
IGL03392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
84967564-85020918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84992993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 75
(V75A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000020227
AA Change: V75A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020227
Gene: ENSMUSG00000020038
AA Change: V75A
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
| Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
| Col13a1 |
A |
T |
10: 61,721,490 (GRCm39) |
L305I |
possibly damaging |
Het |
| Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
| Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gbp8 |
A |
G |
5: 105,164,410 (GRCm39) |
|
probably null |
Het |
| Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lgi4 |
G |
A |
7: 30,762,605 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,573,563 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
| Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
| Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
| Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
| Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,633,522 (GRCm39) |
E655G |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
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 |
|
IGL01349:Cry1
|
APN |
10 |
84,984,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation