Incidental Mutation 'IGL02614:Cacul1'
| ID |
300596 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cacul1
|
| Ensembl Gene |
ENSMUSG00000033417 |
| Gene Name |
CDK2 associated, cullin domain 1 |
| Synonyms |
2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
IGL02614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
60513143-60569420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60551661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 187
(M187K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081790]
[ENSMUST00000111460]
[ENSMUST00000166712]
|
| AlphaFold |
Q8R0X2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081790
AA Change: M187K
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
128 |
N/A |
INTRINSIC |
|
Pfam:Cullin
|
145 |
346 |
2.2e-13 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111460
AA Change: M187K
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
128 |
N/A |
INTRINSIC |
|
Pfam:Cullin
|
145 |
294 |
2.4e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166712
AA Change: M187K
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: M187K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
128 |
N/A |
INTRINSIC |
|
Pfam:Cullin
|
145 |
287 |
1.4e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,215 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
A |
G |
7: 131,026,357 (GRCm39) |
T67A |
probably benign |
Het |
| Aff2 |
A |
G |
X: 68,907,693 (GRCm39) |
D1225G |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,627,366 (GRCm39) |
D133G |
probably benign |
Het |
| Celf4 |
A |
G |
18: 25,637,207 (GRCm39) |
Y263H |
probably damaging |
Het |
| Cmbl |
G |
T |
15: 31,589,830 (GRCm39) |
V187F |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,337,491 (GRCm39) |
N896S |
probably benign |
Het |
| Fbxo27 |
G |
A |
7: 28,396,201 (GRCm39) |
|
probably null |
Het |
| Galnt16 |
T |
C |
12: 80,623,337 (GRCm39) |
S166P |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,832,010 (GRCm39) |
V47A |
probably benign |
Het |
| Gmnn |
A |
G |
13: 24,944,137 (GRCm39) |
|
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,573,007 (GRCm39) |
I382V |
probably benign |
Het |
| Gpr87 |
C |
A |
3: 59,086,738 (GRCm39) |
V256L |
probably damaging |
Het |
| Il4ra |
C |
A |
7: 125,174,962 (GRCm39) |
S390* |
probably null |
Het |
| Itprid1 |
A |
T |
6: 55,945,262 (GRCm39) |
D661V |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,103,392 (GRCm39) |
|
probably null |
Het |
| Lrriq4 |
A |
T |
3: 30,709,788 (GRCm39) |
L362F |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,827 (GRCm39) |
N79Y |
probably benign |
Het |
| Nr1i2 |
T |
A |
16: 38,074,118 (GRCm39) |
H165L |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,627,627 (GRCm39) |
E201G |
probably damaging |
Het |
| Phf11a |
T |
A |
14: 59,516,817 (GRCm39) |
T214S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,987,887 (GRCm39) |
I536K |
possibly damaging |
Het |
| Rpn1 |
T |
A |
6: 88,079,087 (GRCm39) |
I510N |
probably benign |
Het |
| Sall4 |
A |
T |
2: 168,597,805 (GRCm39) |
L20Q |
probably null |
Het |
| Sema3f |
T |
C |
9: 107,559,710 (GRCm39) |
E759G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,945 (GRCm39) |
S446P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,331 (GRCm39) |
T31806A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,701,460 (GRCm39) |
|
probably benign |
Het |
| Vac14 |
T |
G |
8: 111,361,750 (GRCm39) |
L214R |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,553 (GRCm39) |
K781E |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,387,503 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp609 |
G |
A |
9: 65,610,072 (GRCm39) |
P964S |
probably damaging |
Het |
|
| Other mutations in Cacul1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02051:Cacul1
|
APN |
19 |
60,531,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Cacul1
|
APN |
19 |
60,531,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Cacul1
|
UTSW |
19 |
60,552,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Cacul1
|
UTSW |
19 |
60,531,498 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0400:Cacul1
|
UTSW |
19 |
60,551,591 (GRCm39) |
splice site |
probably benign |
|
|
R0472:Cacul1
|
UTSW |
19 |
60,531,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0853:Cacul1
|
UTSW |
19 |
60,522,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1169:Cacul1
|
UTSW |
19 |
60,568,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1490:Cacul1
|
UTSW |
19 |
60,568,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Cacul1
|
UTSW |
19 |
60,522,688 (GRCm39) |
nonsense |
probably null |
|
|
R5140:Cacul1
|
UTSW |
19 |
60,551,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5858:Cacul1
|
UTSW |
19 |
60,517,482 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5888:Cacul1
|
UTSW |
19 |
60,525,902 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6629:Cacul1
|
UTSW |
19 |
60,568,805 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6853:Cacul1
|
UTSW |
19 |
60,517,904 (GRCm39) |
nonsense |
probably null |
|
|
R6859:Cacul1
|
UTSW |
19 |
60,522,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Cacul1
|
UTSW |
19 |
60,568,868 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8262:Cacul1
|
UTSW |
19 |
60,517,475 (GRCm39) |
makesense |
probably null |
|
|
R8358:Cacul1
|
UTSW |
19 |
60,551,673 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8889:Cacul1
|
UTSW |
19 |
60,568,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9357:Cacul1
|
UTSW |
19 |
60,533,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9555:Cacul1
|
UTSW |
19 |
60,533,887 (GRCm39) |
nonsense |
probably null |
|
|
R9755:Cacul1
|
UTSW |
19 |
60,533,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0027:Cacul1
|
UTSW |
19 |
60,531,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation