Incidental Mutation 'R4653:Cul1'
ID |
351466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul1
|
Ensembl Gene |
ENSMUSG00000029686 |
Gene Name |
cullin 1 |
Synonyms |
|
MMRRC Submission |
041913-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4653 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47461897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 20
(I20T)
|
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: I20T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686 AA Change: I20T
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: I20T
|
SMART Domains |
Protein: ENSMUSP00000144845 Gene: ENSMUSG00000029686 AA Change: I20T
Domain | Start | End | E-Value | Type |
PDB:1U6G|A
|
1 |
48 |
2e-26 |
PDB |
SCOP:d1ldja2
|
17 |
47 |
3e-11 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146200
AA Change: I20T
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686 AA Change: I20T
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: I20T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121608 Gene: ENSMUSG00000029686 AA Change: I20T
Domain | Start | End | E-Value | Type |
Pfam:Cullin
|
21 |
110 |
8.8e-13 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152547
AA Change: I20T
|
Meta Mutation Damage Score |
0.1176 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (66/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,264 (GRCm39) |
T351A |
probably benign |
Het |
3930402G23Rik |
A |
T |
8: 10,976,075 (GRCm39) |
|
noncoding transcript |
Het |
4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
Abca4 |
G |
T |
3: 121,932,230 (GRCm39) |
E295* |
probably null |
Het |
Abi3 |
T |
C |
11: 95,723,637 (GRCm39) |
I215V |
probably benign |
Het |
Adhfe1 |
G |
T |
1: 9,620,803 (GRCm39) |
|
probably benign |
Het |
Akr1a1 |
A |
G |
4: 116,495,156 (GRCm39) |
|
probably benign |
Het |
Ank |
T |
A |
15: 27,590,447 (GRCm39) |
W344R |
probably null |
Het |
Cast |
A |
G |
13: 74,894,133 (GRCm39) |
S171P |
probably benign |
Het |
Ccdc39 |
A |
G |
3: 33,873,955 (GRCm39) |
|
probably null |
Het |
Cd180 |
T |
A |
13: 102,841,416 (GRCm39) |
L154H |
probably damaging |
Het |
Cnp |
A |
T |
11: 100,467,342 (GRCm39) |
D95V |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,050,440 (GRCm39) |
K3042R |
possibly damaging |
Het |
Dpy19l1 |
A |
C |
9: 24,393,350 (GRCm39) |
S140A |
possibly damaging |
Het |
Dpys |
C |
A |
15: 39,656,642 (GRCm39) |
R475L |
probably damaging |
Het |
Dync1i2 |
A |
G |
2: 71,078,199 (GRCm39) |
N276S |
probably damaging |
Het |
Ext2 |
T |
C |
2: 93,526,504 (GRCm39) |
S711G |
probably benign |
Het |
Fancm |
A |
G |
12: 65,129,828 (GRCm39) |
Y223C |
probably damaging |
Het |
Folh1 |
C |
A |
7: 86,393,633 (GRCm39) |
G360* |
probably null |
Het |
Garin5b |
T |
C |
7: 4,761,054 (GRCm39) |
R553G |
possibly damaging |
Het |
Gcat |
T |
C |
15: 78,919,487 (GRCm39) |
S151P |
probably damaging |
Het |
Gcm2 |
A |
T |
13: 41,256,317 (GRCm39) |
D477E |
probably benign |
Het |
Git1 |
A |
G |
11: 77,395,869 (GRCm39) |
N468S |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,273,272 (GRCm39) |
I622V |
probably benign |
Het |
Hsd17b13 |
G |
A |
5: 104,113,702 (GRCm39) |
L251F |
probably damaging |
Het |
Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
Llgl1 |
A |
G |
11: 60,599,477 (GRCm39) |
D486G |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,922,801 (GRCm39) |
I1366V |
probably benign |
Het |
Ly9 |
G |
T |
1: 171,421,597 (GRCm39) |
H441Q |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,882,511 (GRCm39) |
F514L |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,770,813 (GRCm39) |
|
probably null |
Het |
Nomo1 |
G |
T |
7: 45,711,237 (GRCm39) |
A639S |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,924,027 (GRCm39) |
D136G |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,674,654 (GRCm39) |
D87E |
probably damaging |
Het |
Pdpk1 |
A |
T |
17: 24,325,871 (GRCm39) |
D108E |
probably benign |
Het |
Pex26 |
C |
T |
6: 121,167,084 (GRCm39) |
S231L |
probably damaging |
Het |
Prpf38b |
G |
A |
3: 108,811,408 (GRCm39) |
|
probably benign |
Het |
Prpf4b |
A |
T |
13: 35,083,954 (GRCm39) |
M908L |
probably benign |
Het |
Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Ryr3 |
T |
A |
2: 112,483,108 (GRCm39) |
N4213I |
probably damaging |
Het |
Slc7a14 |
A |
G |
3: 31,311,831 (GRCm39) |
V63A |
probably damaging |
Het |
Sppl2a |
C |
T |
2: 126,762,233 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
A |
6: 48,455,580 (GRCm39) |
W3077R |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,678,769 (GRCm39) |
M230K |
probably damaging |
Het |
Sv2a |
T |
C |
3: 96,098,078 (GRCm39) |
|
probably null |
Het |
Themis2 |
A |
G |
4: 132,510,287 (GRCm39) |
S638P |
probably benign |
Het |
Trabd |
A |
G |
15: 88,970,042 (GRCm39) |
Y346C |
probably damaging |
Het |
Trim38 |
A |
T |
13: 23,966,952 (GRCm39) |
D133V |
probably damaging |
Het |
Trmt1l |
G |
A |
1: 151,315,320 (GRCm39) |
V16I |
probably benign |
Het |
Ube2b |
A |
G |
11: 51,886,199 (GRCm39) |
|
probably null |
Het |
Usp13 |
A |
T |
3: 32,892,073 (GRCm39) |
Q84L |
probably damaging |
Het |
Vmn1r172 |
G |
T |
7: 23,359,997 (GRCm39) |
G294V |
probably damaging |
Het |
Vmn2r59 |
A |
T |
7: 41,693,228 (GRCm39) |
H457Q |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,553,114 (GRCm39) |
I714T |
possibly damaging |
Het |
Vps8 |
T |
C |
16: 21,318,960 (GRCm39) |
Y602H |
probably damaging |
Het |
Zbp1 |
G |
A |
2: 173,049,608 (GRCm39) |
P385S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACATTCTTTCTGAGCTGCTG -3'
(R):5'- ATCTAGCCAAAATACCTCTGCTG -3'
Sequencing Primer
(F):5'- GAGCTGCTGTGAATAAATTTGGAATG -3'
(R):5'- TAGCCAAAATACCTCTGCTGAAAAAG -3'
|
Posted On |
2015-10-08 |