Incidental Mutation 'IGL03065:Cul1'
ID |
409668 |
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 # |
IGL03065
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47472015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 52
(Y52C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000146200]
[ENSMUST00000146828]
|
AlphaFold |
Q9WTX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031697
AA Change: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686 AA Change: Y52C
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 |
probably damaging
Transcript: ENSMUST00000146200
AA Change: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686 AA Change: Y52C
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: Y52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121608 Gene: ENSMUSG00000029686 AA Change: Y52C
Domain | Start | End | E-Value | Type |
Pfam:Cullin
|
21 |
110 |
8.8e-13 |
PFAM |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
A |
G |
8: 84,665,143 (GRCm39) |
M1322V |
possibly damaging |
Het |
Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,486,328 (GRCm39) |
V350A |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,255,031 (GRCm39) |
S109G |
probably benign |
Het |
Bpifa1 |
T |
A |
2: 153,989,562 (GRCm39) |
N250K |
probably damaging |
Het |
Capn9 |
A |
C |
8: 125,332,298 (GRCm39) |
Y423S |
probably damaging |
Het |
Cd200r1 |
T |
G |
16: 44,614,645 (GRCm39) |
V308G |
probably benign |
Het |
Cic |
T |
C |
7: 24,985,246 (GRCm39) |
|
probably benign |
Het |
Col5a1 |
T |
A |
2: 27,922,757 (GRCm39) |
I275N |
possibly damaging |
Het |
Col6a4 |
C |
A |
9: 105,918,363 (GRCm39) |
|
probably benign |
Het |
Cpeb1 |
T |
C |
7: 81,086,038 (GRCm39) |
R35G |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,169,475 (GRCm39) |
F496L |
probably damaging |
Het |
Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
Eaf2 |
C |
T |
16: 36,648,484 (GRCm39) |
R12H |
probably benign |
Het |
Gcc1 |
T |
A |
6: 28,418,401 (GRCm39) |
Q644L |
possibly damaging |
Het |
Gm44865 |
C |
T |
7: 108,165,004 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,733,228 (GRCm39) |
S825L |
probably benign |
Het |
Gstp3 |
C |
T |
19: 4,108,730 (GRCm39) |
|
probably null |
Het |
Heph |
T |
A |
X: 95,571,173 (GRCm39) |
I669N |
probably benign |
Het |
Il12rb1 |
A |
T |
8: 71,273,202 (GRCm39) |
Y635F |
possibly damaging |
Het |
Ing3 |
G |
A |
6: 21,971,221 (GRCm39) |
A331T |
probably benign |
Het |
Ipo8 |
T |
A |
6: 148,686,205 (GRCm39) |
I762F |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,310,907 (GRCm39) |
R510Q |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,461,833 (GRCm39) |
Y1273H |
probably damaging |
Het |
Map3k14 |
T |
C |
11: 103,115,927 (GRCm39) |
E784G |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,210,802 (GRCm39) |
N1694K |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,235,679 (GRCm39) |
F648S |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,149,982 (GRCm39) |
H1847R |
probably benign |
Het |
Ncoa7 |
T |
A |
10: 30,523,993 (GRCm39) |
D840V |
probably damaging |
Het |
Nxpe2 |
T |
A |
9: 48,230,992 (GRCm39) |
N459I |
possibly damaging |
Het |
Or4d10c |
C |
A |
19: 12,065,975 (GRCm39) |
L60F |
possibly damaging |
Het |
Or4k2 |
C |
A |
14: 50,424,465 (GRCm39) |
D70Y |
probably damaging |
Het |
Or4k47 |
T |
C |
2: 111,451,535 (GRCm39) |
K295E |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,682 (GRCm39) |
F485S |
probably benign |
Het |
Parp4 |
G |
T |
14: 56,875,326 (GRCm39) |
A1182S |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pla2g15 |
G |
A |
8: 106,886,851 (GRCm39) |
R114H |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,880 (GRCm39) |
T321S |
probably benign |
Het |
Rnf113a1 |
A |
G |
X: 36,455,748 (GRCm39) |
D235G |
probably benign |
Het |
Rsrp1 |
A |
G |
4: 134,651,700 (GRCm39) |
T155A |
possibly damaging |
Het |
Simc1 |
G |
T |
13: 54,685,025 (GRCm39) |
C87F |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,194,569 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
C |
A |
6: 141,938,228 (GRCm39) |
L230F |
probably damaging |
Het |
Smyd5 |
A |
G |
6: 85,419,146 (GRCm39) |
D276G |
possibly damaging |
Het |
Tmem132c |
A |
G |
5: 127,640,688 (GRCm39) |
Y953C |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,219,361 (GRCm39) |
S2033T |
possibly damaging |
Het |
Trim69 |
A |
G |
2: 122,009,115 (GRCm39) |
T392A |
probably damaging |
Het |
Tsks |
T |
C |
7: 44,592,724 (GRCm39) |
V6A |
probably damaging |
Het |
Yjefn3 |
A |
G |
8: 70,342,206 (GRCm39) |
|
probably benign |
Het |
Zfp263 |
T |
G |
16: 3,564,344 (GRCm39) |
D211E |
probably benign |
Het |
Zfp994 |
A |
T |
17: 22,421,661 (GRCm39) |
F51L |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,897,685 (GRCm39) |
M413K |
probably benign |
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 |
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 |
2016-08-02 |