Incidental Mutation 'IGL02574:Rcan3'
| ID |
299129 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rcan3
|
| Ensembl Gene |
ENSMUSG00000059713 |
| Gene Name |
regulator of calcineurin 3 |
| Synonyms |
Csp3, Dscr1l2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135139619-135161154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135152706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 5
(S5N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030606]
[ENSMUST00000132654]
[ENSMUST00000156635]
|
| AlphaFold |
Q9JKK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030606
AA Change: S5N
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000030606
Gene: ENSMUSG00000059713
AA Change: S5N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Pfam:Calcipressin
|
56 |
226 |
9e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132654
|
| SMART Domains |
Protein: ENSMUSP00000114220
Gene: ENSMUSG00000059713
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
9 |
135 |
1.1e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156635
AA Change: S5N
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118447
Gene: ENSMUSG00000059713
AA Change: S5N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
Pfam:Calcipressin
|
56 |
159 |
1.6e-40 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef12 |
T |
C |
9: 42,916,919 (GRCm39) |
D409G |
probably damaging |
Het |
| AW551984 |
A |
C |
9: 39,500,382 (GRCm39) |
L792R |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,974,350 (GRCm39) |
E1151G |
probably damaging |
Het |
| Cfap44 |
C |
A |
16: 44,301,746 (GRCm39) |
P1828Q |
probably damaging |
Het |
| Chid1 |
A |
T |
7: 141,076,603 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
A |
9: 105,659,390 (GRCm39) |
L518F |
probably damaging |
Het |
| Ctsz |
C |
T |
2: 174,270,891 (GRCm39) |
R201K |
probably benign |
Het |
| Diras1 |
T |
C |
10: 80,858,119 (GRCm39) |
Y44C |
probably damaging |
Het |
| Grip1 |
T |
C |
10: 119,778,818 (GRCm39) |
V159A |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,317,420 (GRCm39) |
|
probably benign |
Het |
| Jag2 |
T |
C |
12: 112,879,131 (GRCm39) |
N463S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,428,925 (GRCm39) |
T516A |
possibly damaging |
Het |
| Kmt2a |
C |
A |
9: 44,741,810 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,118,429 (GRCm39) |
N1619D |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,168,449 (GRCm39) |
|
probably null |
Het |
| Or12d13 |
G |
T |
17: 37,647,415 (GRCm39) |
A236E |
probably damaging |
Het |
| Or2n1b |
C |
T |
17: 38,460,280 (GRCm39) |
T267I |
possibly damaging |
Het |
| Pacsin2 |
G |
T |
15: 83,272,864 (GRCm39) |
A154E |
possibly damaging |
Het |
| Plcd4 |
A |
T |
1: 74,603,539 (GRCm39) |
I647F |
probably damaging |
Het |
| Prdm10 |
C |
T |
9: 31,268,589 (GRCm39) |
A846V |
probably damaging |
Het |
| Ptgs2 |
G |
T |
1: 149,978,526 (GRCm39) |
G213* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Serpinc1 |
A |
G |
1: 160,830,029 (GRCm39) |
N465S |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,951,534 (GRCm39) |
I208V |
possibly damaging |
Het |
| Vcl |
C |
T |
14: 20,979,643 (GRCm39) |
Q19* |
probably null |
Het |
|
| Other mutations in Rcan3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0016:Rcan3
|
UTSW |
4 |
135,145,689 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0412:Rcan3
|
UTSW |
4 |
135,143,914 (GRCm39) |
splice site |
probably null |
|
|
R1531:Rcan3
|
UTSW |
4 |
135,152,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1938:Rcan3
|
UTSW |
4 |
135,139,812 (GRCm39) |
splice site |
probably null |
|
|
R2229:Rcan3
|
UTSW |
4 |
135,152,688 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5159:Rcan3
|
UTSW |
4 |
135,152,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5973:Rcan3
|
UTSW |
4 |
135,145,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7070:Rcan3
|
UTSW |
4 |
135,143,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7649:Rcan3
|
UTSW |
4 |
135,139,799 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8201:Rcan3
|
UTSW |
4 |
135,147,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9189:Rcan3
|
UTSW |
4 |
135,152,607 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9723:Rcan3
|
UTSW |
4 |
135,152,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation