Incidental Mutation 'IGL02410:Cul1'
ID |
292252 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cul1
|
Ensembl Gene |
ENSMUSG00000029686 |
Gene Name |
cullin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02410
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47461948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 37
(M37K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000143941]
[ENSMUST00000146200]
[ENSMUST00000146828]
[ENSMUST00000152547]
|
AlphaFold |
Q9WTX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031697
AA Change: M37K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686 AA Change: M37K
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 |
unknown
Transcript: ENSMUST00000143941
AA Change: M37K
|
SMART Domains |
Protein: ENSMUSP00000144845 Gene: ENSMUSG00000029686 AA Change: M37K
Domain | Start | End | E-Value | Type |
PDB:1U6G|A
|
1 |
48 |
2e-26 |
PDB |
SCOP:d1ldja2
|
17 |
47 |
3e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146200
AA Change: M37K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686 AA Change: M37K
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 |
probably damaging
Transcript: ENSMUST00000146828
AA Change: M37K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121608 Gene: ENSMUSG00000029686 AA Change: M37K
Domain | Start | End | E-Value | Type |
Pfam:Cullin
|
21 |
110 |
8.8e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152547
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
G |
A |
1: 165,337,977 (GRCm39) |
C197Y |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,792,496 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
G |
2: 113,967,398 (GRCm39) |
V539A |
possibly damaging |
Het |
Bnip3 |
C |
A |
7: 138,500,528 (GRCm39) |
G21C |
probably damaging |
Het |
Dazl |
T |
C |
17: 50,600,426 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,735,189 (GRCm39) |
T1056A |
probably benign |
Het |
Ewsr1 |
A |
G |
11: 5,043,863 (GRCm39) |
|
probably benign |
Het |
Fam167b |
G |
A |
4: 129,472,011 (GRCm39) |
A53V |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,141 (GRCm39) |
Y2287C |
probably damaging |
Het |
H2-M10.3 |
A |
T |
17: 36,677,428 (GRCm39) |
H283Q |
probably damaging |
Het |
Hectd2 |
C |
T |
19: 36,572,613 (GRCm39) |
R39* |
probably null |
Het |
Hnrnph3 |
A |
G |
10: 62,851,503 (GRCm39) |
|
probably benign |
Het |
Hps4 |
T |
C |
5: 112,518,093 (GRCm39) |
V362A |
probably benign |
Het |
Igkv9-120 |
A |
C |
6: 68,027,027 (GRCm39) |
|
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,795,977 (GRCm39) |
T417A |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,490,648 (GRCm39) |
V1307A |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,215,730 (GRCm39) |
E1511G |
probably benign |
Het |
Nprl3 |
A |
T |
11: 32,217,539 (GRCm39) |
M1K |
probably null |
Het |
Or9i2 |
A |
G |
19: 13,816,495 (GRCm39) |
I14T |
probably benign |
Het |
Ppp1r15a |
A |
G |
7: 45,173,479 (GRCm39) |
V443A |
probably damaging |
Het |
Psmd1 |
T |
G |
1: 86,005,159 (GRCm39) |
L198V |
probably damaging |
Het |
Rapgef4 |
A |
T |
2: 72,056,938 (GRCm39) |
I566F |
possibly damaging |
Het |
Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,468 (GRCm39) |
R273G |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,058,253 (GRCm39) |
P47S |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,085,979 (GRCm39) |
S621P |
probably damaging |
Het |
Spata31e5 |
A |
G |
1: 28,817,712 (GRCm39) |
S107P |
probably benign |
Het |
Ttn |
C |
A |
2: 76,555,278 (GRCm39) |
A30576S |
probably benign |
Het |
Ttyh1 |
A |
G |
7: 4,136,898 (GRCm39) |
|
probably benign |
Het |
Ush2a |
C |
T |
1: 188,648,194 (GRCm39) |
R4600C |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,011 (GRCm39) |
V289M |
probably 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 |
|
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 |
R6670:Cul1
|
UTSW |
6 |
47,494,068 (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 |
|
Posted On |
2015-04-16 |