Incidental Mutation 'R5599:Cry1'
| ID |
438949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cry1
|
| Ensembl Gene |
ENSMUSG00000020038 |
| Gene Name |
cryptochrome circadian regulator 1 |
| Synonyms |
Phll1 |
| MMRRC Submission |
043151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
84967564-85020918 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84980114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 398
(M398K)
|
| 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: M398K
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020227
Gene: ENSMUSG00000020038
AA Change: M398K
| 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 |
probably benign
Transcript: ENSMUST00000214675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214805
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
| Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
| Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
| Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
| Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
| Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
| Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
| Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
| Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTGTTGCTAAGCACAAAGAGC -3'
(R):5'- TCCAGAAAGCTGTATTTCCTGTG -3'
Sequencing Primer
(F):5'- GTTGCTAAGCACAAAGAGCTAGCTC -3'
(R):5'- CAGAAAGCTGTATTTCCTGTGTATTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation