Incidental Mutation 'R6629:Cacul1'
ID |
525024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacul1
|
Ensembl Gene |
ENSMUSG00000033417 |
Gene Name |
CDK2 associated, cullin domain 1 |
Synonyms |
2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik |
MMRRC Submission |
044751-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R6629 (G1)
|
Quality Score |
203.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
60513143-60569420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60568805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 118
(S118G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081790]
[ENSMUST00000111460]
[ENSMUST00000166712]
|
AlphaFold |
Q8R0X2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081790
AA Change: S118G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000080480 Gene: ENSMUSG00000033417 AA Change: S118G
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 benign
Transcript: ENSMUST00000111460
AA Change: S118G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000107086 Gene: ENSMUSG00000033417 AA Change: S118G
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 benign
Transcript: ENSMUST00000166712
AA Change: S118G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127014 Gene: ENSMUSG00000033417 AA Change: S118G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174914
|
Meta Mutation Damage Score |
0.0812 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
Gnrhr |
A |
G |
5: 86,330,168 (GRCm39) |
V284A |
probably benign |
Het |
Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGTAACAGGCAACACTGG -3'
(R):5'- CTACGAGGCAATGATGGACG -3'
Sequencing Primer
(F):5'- GATACTGGCCGCAGACAC -3'
(R):5'- TCACAACAACTGGGAGGCCG -3'
|
Posted On |
2018-06-22 |