Incidental Mutation 'R5831:Ciart'
| ID |
449300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ciart
|
| Ensembl Gene |
ENSMUSG00000038550 |
| Gene Name |
circadian associated repressor of transcription |
| Synonyms |
Gm129, LOC229599 |
| MMRRC Submission |
043220-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.354)
|
| Stock # |
R5831 (G1)
|
| Quality Score |
179 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95785815-95789563 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95786214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 287
(V287D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036418]
[ENSMUST00000159739]
[ENSMUST00000159863]
[ENSMUST00000161866]
[ENSMUST00000161867]
[ENSMUST00000161994]
|
| AlphaFold |
Q3TQ03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036418
AA Change: V287D
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049308
Gene: ENSMUSG00000038550
AA Change: V287D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143306
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159739
AA Change: V287D
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124943
Gene: ENSMUSG00000038550
AA Change: V287D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
Pfam:DUF4664
|
85 |
361 |
3.3e-170 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159863
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161866
AA Change: V153D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135072
Gene: ENSMUSG00000038550
AA Change: V153D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
166 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161994
|
| SMART Domains |
Protein: ENSMUSP00000124125
Gene: ENSMUSG00000038550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
61 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Null mutants have slightly prolonged expression of circadian genes [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 |
|---|
| Abca13 |
A |
T |
11: 9,517,777 (GRCm39) |
K4460* |
probably null |
Het |
| Adam21 |
A |
G |
12: 81,605,875 (GRCm39) |
V629A |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,006 (GRCm39) |
V653I |
probably damaging |
Het |
| Adarb2 |
G |
A |
13: 8,609,169 (GRCm39) |
A44T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,132,808 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,024 (GRCm39) |
Y833C |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,820,636 (GRCm39) |
S1297P |
probably damaging |
Het |
| Cdc25b |
G |
T |
2: 131,029,301 (GRCm39) |
|
probably null |
Het |
| Csf2ra |
A |
G |
19: 61,213,650 (GRCm39) |
F353S |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,119,592 (GRCm39) |
E1717K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,421,611 (GRCm39) |
K82R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,998,947 (GRCm39) |
T1034S |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,714,332 (GRCm39) |
E1837G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,900,019 (GRCm39) |
S110T |
possibly damaging |
Het |
| Flg2 |
G |
A |
3: 93,107,541 (GRCm39) |
V9I |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,988,918 (GRCm39) |
T602S |
probably benign |
Het |
| Hip1 |
T |
C |
5: 135,440,117 (GRCm39) |
E1015G |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,232,763 (GRCm39) |
F201L |
probably damaging |
Het |
| Isoc2b |
C |
A |
7: 4,854,023 (GRCm39) |
L116F |
probably null |
Het |
| Loxl3 |
A |
T |
6: 83,025,999 (GRCm39) |
T416S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,746,798 (GRCm39) |
*960W |
probably null |
Het |
| Morn1 |
A |
G |
4: 155,185,733 (GRCm39) |
H183R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,523 (GRCm39) |
N918I |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,679,540 (GRCm39) |
V763A |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,439 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
G |
A |
2: 88,356,824 (GRCm39) |
W299* |
probably null |
Het |
| Papola |
A |
G |
12: 105,789,859 (GRCm39) |
K482E |
probably benign |
Het |
| Pck1 |
C |
T |
2: 172,998,792 (GRCm39) |
T350I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,405,727 (GRCm39) |
A51T |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,208 (GRCm39) |
H133R |
probably benign |
Het |
| Rpl36-ps4 |
T |
C |
17: 88,228,685 (GRCm39) |
V73A |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,314,962 (GRCm39) |
P1240L |
probably benign |
Het |
| Selenom |
G |
T |
11: 3,466,882 (GRCm39) |
E81* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,081,081 (GRCm39) |
M1V |
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,615,685 (GRCm39) |
S231P |
possibly damaging |
Het |
| Trappc10 |
C |
T |
10: 78,045,260 (GRCm39) |
R476Q |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,091,386 (GRCm39) |
D200E |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,272,922 (GRCm39) |
D579N |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,349 (GRCm39) |
E33V |
probably damaging |
Het |
|
| Other mutations in Ciart |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02943:Ciart
|
APN |
3 |
95,786,314 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
PIT4453001:Ciart
|
UTSW |
3 |
95,787,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Ciart
|
UTSW |
3 |
95,786,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2079:Ciart
|
UTSW |
3 |
95,786,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Ciart
|
UTSW |
3 |
95,788,323 (GRCm39) |
unclassified |
probably benign |
|
|
R7024:Ciart
|
UTSW |
3 |
95,786,392 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7801:Ciart
|
UTSW |
3 |
95,788,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Ciart
|
UTSW |
3 |
95,788,629 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7993:Ciart
|
UTSW |
3 |
95,786,206 (GRCm39) |
nonsense |
probably null |
|
|
R8009:Ciart
|
UTSW |
3 |
95,788,629 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8098:Ciart
|
UTSW |
3 |
95,788,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Ciart
|
UTSW |
3 |
95,788,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Ciart
|
UTSW |
3 |
95,788,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Ciart
|
UTSW |
3 |
95,788,527 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9541:Ciart
|
UTSW |
3 |
95,788,527 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9676:Ciart
|
UTSW |
3 |
95,786,214 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1177:Ciart
|
UTSW |
3 |
95,786,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTAGTCATCTGTGGCTC -3'
(R):5'- CACAGCTGGGACATTTAGTTTTG -3'
Sequencing Primer
(F):5'- TCTGTGGTAGGCAGGACAG -3'
(R):5'- GTTTTGAAACCAAAGCAGCCTTGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation