Incidental Mutation 'R6859:Cacul1'
| ID |
537825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacul1
|
| Ensembl Gene |
ENSMUSG00000033417 |
| Gene Name |
CDK2 associated, cullin domain 1 |
| Synonyms |
2700078E11Rik, 2810417M16Rik, 9830127L17Rik, D130033C15Rik |
| MMRRC Submission |
044961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6859 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
60513143-60569420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60522683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 284
(S284P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081790]
[ENSMUST00000111460]
[ENSMUST00000166712]
|
| AlphaFold |
Q8R0X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081790
AA Change: S314P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080480
Gene: ENSMUSG00000033417
AA Change: S314P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107086
Gene: ENSMUSG00000033417
| 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 damaging
Transcript: ENSMUST00000166712
AA Change: S284P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127014
Gene: ENSMUSG00000033417
AA Change: S284P
| 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 |
|
| Meta Mutation Damage Score |
0.3535 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,799 (GRCm39) |
V788A |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 120,002,217 (GRCm39) |
K1577* |
probably null |
Het |
| Arhgap12 |
T |
C |
18: 6,111,803 (GRCm39) |
E187G |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,025,005 (GRCm39) |
Y398N |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,731,874 (GRCm39) |
V2055I |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,688,353 (GRCm39) |
D475G |
probably damaging |
Het |
| C1qtnf12 |
T |
A |
4: 156,050,070 (GRCm39) |
F190Y |
probably damaging |
Het |
| Ccdc166 |
C |
A |
15: 75,853,820 (GRCm39) |
V87L |
possibly damaging |
Het |
| Ceacam13 |
C |
T |
7: 17,747,032 (GRCm39) |
P162S |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,834,446 (GRCm39) |
S2124T |
probably benign |
Het |
| Chd5 |
T |
C |
4: 152,462,664 (GRCm39) |
S1372P |
probably damaging |
Het |
| Chil3 |
C |
A |
3: 106,067,730 (GRCm39) |
R145L |
probably benign |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,923 (GRCm39) |
S454P |
probably benign |
Het |
| Defa3 |
T |
A |
8: 21,778,213 (GRCm39) |
C66S |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,349 (GRCm39) |
N260K |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,016 (GRCm39) |
L653Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,255 (GRCm39) |
Y124* |
probably null |
Het |
| Lao1 |
A |
C |
4: 118,820,948 (GRCm39) |
K58T |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,487 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
G |
C |
7: 47,239,781 (GRCm39) |
I48M |
probably benign |
Het |
| Nck2 |
T |
G |
1: 43,593,511 (GRCm39) |
N239K |
probably benign |
Het |
| Optc |
A |
T |
1: 133,825,554 (GRCm39) |
V324E |
possibly damaging |
Het |
| Or12k7 |
A |
T |
2: 36,958,794 (GRCm39) |
Y159F |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,278 (GRCm39) |
I221T |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,908 (GRCm39) |
W84* |
probably null |
Het |
| Otog |
T |
C |
7: 45,923,205 (GRCm39) |
S1027P |
probably damaging |
Het |
| Plbd2 |
A |
G |
5: 120,641,407 (GRCm39) |
F84L |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,935,838 (GRCm39) |
L110P |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,778,708 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ptprh |
C |
A |
7: 4,552,370 (GRCm39) |
E965* |
probably null |
Het |
| Reln |
T |
C |
5: 22,239,568 (GRCm39) |
T900A |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,646,682 (GRCm39) |
Y644H |
probably damaging |
Het |
| Sulf2 |
A |
G |
2: 165,929,039 (GRCm39) |
Y311H |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,056,626 (GRCm39) |
I438N |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,387,937 (GRCm39) |
V356A |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,303,425 (GRCm39) |
N69S |
probably damaging |
Het |
| Topaz1 |
T |
C |
9: 122,631,023 (GRCm39) |
V1618A |
probably benign |
Het |
| Usp48 |
C |
T |
4: 137,352,587 (GRCm39) |
T627I |
possibly damaging |
Het |
| Vcl |
T |
C |
14: 21,037,143 (GRCm39) |
V247A |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,693,277 (GRCm39) |
L441P |
probably damaging |
Het |
| Zfp869 |
C |
T |
8: 70,159,175 (GRCm39) |
G466D |
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 |
|
|
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'- TGTTCAGCAGTATGCCAGGC -3'
(R):5'- TCCATTGGAATTGCCTAGTTATCTC -3'
Sequencing Primer
(F):5'- CCAGGCCAGGCTAGAAGC -3'
(R):5'- GGAATTGCCTAGTTATCTCACTTATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation