Incidental Mutation 'R9555:Cacul1'
| ID |
720734 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
60513143-60569420 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 60533887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 238
(Y238*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081790]
[ENSMUST00000111460]
[ENSMUST00000166712]
|
| AlphaFold |
Q8R0X2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081790
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: Y238*
| 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 |
probably null
Transcript: ENSMUST00000111460
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
AA Change: Y238*
| 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 |
probably null
Transcript: ENSMUST00000166712
AA Change: Y238*
|
| SMART Domains |
Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: Y238*
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,947 (GRCm39) |
V259A |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,661,949 (GRCm39) |
I63V |
probably benign |
Het |
| Agps |
C |
A |
2: 75,683,091 (GRCm39) |
P139T |
probably damaging |
Het |
| B130006D01Rik |
A |
T |
11: 95,616,956 (GRCm39) |
H27L |
unknown |
Het |
| BC024139 |
A |
G |
15: 76,005,359 (GRCm39) |
V501A |
possibly damaging |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
| Ddx3y |
G |
T |
Y: 1,265,895 (GRCm39) |
D367E |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,879,083 (GRCm39) |
I69L |
possibly damaging |
Het |
| Epb41l4a |
A |
G |
18: 34,009,966 (GRCm39) |
V213A |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klrb1a |
T |
C |
6: 128,595,427 (GRCm39) |
E142G |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,011,113 (GRCm39) |
I369F |
possibly damaging |
Het |
| Lig1 |
T |
C |
7: 13,025,400 (GRCm39) |
V254A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,741,693 (GRCm39) |
D3192V |
|
Het |
| Lrp1b |
T |
C |
2: 40,748,438 (GRCm39) |
D3134G |
|
Het |
| Map1s |
T |
A |
8: 71,367,236 (GRCm39) |
S714T |
probably benign |
Het |
| Marchf2 |
A |
G |
17: 33,922,129 (GRCm39) |
L77P |
probably damaging |
Het |
| Nek8 |
A |
G |
11: 78,067,390 (GRCm39) |
F15L |
probably benign |
Het |
| Or1s2 |
T |
A |
19: 13,758,360 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,297,703 (GRCm39) |
R223C |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,995,574 (GRCm39) |
V718D |
probably benign |
Het |
| Pik3ca |
A |
G |
3: 32,505,916 (GRCm39) |
H676R |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,075,400 (GRCm39) |
|
probably benign |
Het |
| Proser1 |
A |
T |
3: 53,378,876 (GRCm39) |
I103F |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,300,421 (GRCm39) |
A184T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,718,415 (GRCm39) |
Q632* |
probably null |
Het |
| Serpinb12 |
C |
T |
1: 106,884,345 (GRCm39) |
H364Y |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,211 (GRCm39) |
E64K |
probably benign |
Het |
| Slc38a1 |
C |
T |
15: 96,486,860 (GRCm39) |
V199M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,105,888 (GRCm39) |
I44T |
possibly damaging |
Het |
| Trip13 |
T |
A |
13: 74,084,252 (GRCm39) |
T78S |
probably benign |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Usp28 |
A |
T |
9: 48,952,736 (GRCm39) |
I1015F |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,659 (GRCm39) |
T1962A |
|
Het |
| Vmn2r100 |
T |
A |
17: 19,743,857 (GRCm39) |
S507T |
probably benign |
Het |
| Vmn2r91 |
C |
T |
17: 18,325,792 (GRCm39) |
P137S |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,102 (GRCm39) |
V265F |
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 |
|
IGL02614:Cacul1
|
APN |
19 |
60,551,661 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATGGAGAAGAAATGCCCTTC -3'
(R):5'- ATAAGTACCTCCCCATTTTAGGTTC -3'
Sequencing Primer
(F):5'- GAAGAAATGCCCTTCTAGCTTTC -3'
(R):5'- CCCCATTTTAGGTTCTTTCTGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation