Incidental Mutation 'R6670:Cul1'
ID |
527095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul1
|
Ensembl Gene |
ENSMUSG00000029686 |
Gene Name |
cullin 1 |
Synonyms |
|
MMRRC Submission |
044790-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6670 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47494068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 460
(D460E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000146200]
|
AlphaFold |
Q9WTX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031697
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686 AA Change: D460E
Domain | Start | End | E-Value | Type |
SCOP:d1ldja2
|
17 |
410 |
1e-174 |
SMART |
CULLIN
|
447 |
594 |
3.69e-81 |
SMART |
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
Cullin_Nedd8
|
703 |
770 |
6.19e-34 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126877
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146200
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686 AA Change: D460E
Domain | Start | End | E-Value | Type |
SCOP:d1ldja2
|
17 |
410 |
1e-176 |
SMART |
CULLIN
|
447 |
594 |
3.69e-81 |
SMART |
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154201
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
100% (38/38) |
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations accumulate cyclin E1 and exhibit arrested development and lethality around embryonic day 6.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
Wnt2 |
C |
A |
6: 18,028,091 (GRCm39) |
V48L |
possibly damaging |
Het |
|
Other mutations in Cul1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01087:Cul1
|
APN |
6 |
47,485,978 (GRCm39) |
missense |
probably benign |
|
IGL02410:Cul1
|
APN |
6 |
47,461,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02458:Cul1
|
APN |
6 |
47,502,542 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02490:Cul1
|
APN |
6 |
47,491,820 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03065:Cul1
|
APN |
6 |
47,472,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Cul1
|
APN |
6 |
47,478,143 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02837:Cul1
|
UTSW |
6 |
47,500,139 (GRCm39) |
missense |
probably benign |
0.01 |
R0064:Cul1
|
UTSW |
6 |
47,479,349 (GRCm39) |
splice site |
probably benign |
|
R0064:Cul1
|
UTSW |
6 |
47,479,349 (GRCm39) |
splice site |
probably benign |
|
R0436:Cul1
|
UTSW |
6 |
47,500,707 (GRCm39) |
missense |
probably benign |
0.16 |
R0746:Cul1
|
UTSW |
6 |
47,495,222 (GRCm39) |
splice site |
probably null |
|
R1103:Cul1
|
UTSW |
6 |
47,494,111 (GRCm39) |
missense |
probably benign |
0.03 |
R1471:Cul1
|
UTSW |
6 |
47,491,820 (GRCm39) |
missense |
probably damaging |
0.98 |
R1746:Cul1
|
UTSW |
6 |
47,485,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R1852:Cul1
|
UTSW |
6 |
47,497,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R1858:Cul1
|
UTSW |
6 |
47,502,458 (GRCm39) |
splice site |
probably null |
|
R1937:Cul1
|
UTSW |
6 |
47,485,289 (GRCm39) |
missense |
probably benign |
0.19 |
R1964:Cul1
|
UTSW |
6 |
47,479,505 (GRCm39) |
missense |
probably damaging |
0.98 |
R2985:Cul1
|
UTSW |
6 |
47,479,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R4452:Cul1
|
UTSW |
6 |
47,485,923 (GRCm39) |
nonsense |
probably null |
|
R4653:Cul1
|
UTSW |
6 |
47,461,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Cul1
|
UTSW |
6 |
47,494,080 (GRCm39) |
missense |
probably benign |
0.38 |
R4860:Cul1
|
UTSW |
6 |
47,494,080 (GRCm39) |
missense |
probably benign |
0.38 |
R4860:Cul1
|
UTSW |
6 |
47,494,125 (GRCm39) |
missense |
probably damaging |
0.99 |
R4860:Cul1
|
UTSW |
6 |
47,494,125 (GRCm39) |
missense |
probably damaging |
0.99 |
R5141:Cul1
|
UTSW |
6 |
47,497,773 (GRCm39) |
missense |
probably benign |
0.04 |
R5328:Cul1
|
UTSW |
6 |
47,485,251 (GRCm39) |
missense |
probably damaging |
0.99 |
R5399:Cul1
|
UTSW |
6 |
47,462,018 (GRCm39) |
splice site |
probably null |
|
R5593:Cul1
|
UTSW |
6 |
47,491,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R5593:Cul1
|
UTSW |
6 |
47,462,020 (GRCm39) |
nonsense |
probably null |
|
R5616:Cul1
|
UTSW |
6 |
47,500,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5855:Cul1
|
UTSW |
6 |
47,500,147 (GRCm39) |
missense |
probably benign |
0.00 |
R6382:Cul1
|
UTSW |
6 |
47,479,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R6964:Cul1
|
UTSW |
6 |
47,493,443 (GRCm39) |
missense |
probably benign |
0.01 |
R8146:Cul1
|
UTSW |
6 |
47,472,027 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8373:Cul1
|
UTSW |
6 |
47,491,997 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8842:Cul1
|
UTSW |
6 |
47,492,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R8899:Cul1
|
UTSW |
6 |
47,474,246 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9093:Cul1
|
UTSW |
6 |
47,495,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R9352:Cul1
|
UTSW |
6 |
47,479,426 (GRCm39) |
missense |
probably benign |
0.00 |
RF001:Cul1
|
UTSW |
6 |
47,501,515 (GRCm39) |
missense |
possibly damaging |
0.50 |
RF055:Cul1
|
UTSW |
6 |
47,494,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAAGTCTAGTCCAGTCAACTG -3'
(R):5'- CTGGAAAGCAGGTCTCACACTG -3'
Sequencing Primer
(F):5'- AATGGATGGCGCTATTTATTGTGAAC -3'
(R):5'- GGTCTCACACTGCACGAAC -3'
|
Posted On |
2018-07-23 |