Incidental Mutation 'IGL02837:Cul1'
ID |
391909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul1
|
Ensembl Gene |
ENSMUSG00000029686 |
Gene Name |
cullin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02837 (G1)
|
Quality Score |
96 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47500139 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 650
(V650A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000146200]
|
AlphaFold |
Q9WTX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031697
AA Change: V650A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686 AA Change: V650A
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 benign
Transcript: ENSMUST00000146200
AA Change: V650A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686 AA Change: V650A
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: ENSMUST00000149531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151934
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154201
|
Meta Mutation Damage Score |
0.0860 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (56/57) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,268,473 (GRCm39) |
V786I |
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,881,432 (GRCm39) |
N803S |
probably benign |
Het |
Ago4 |
C |
G |
4: 126,391,093 (GRCm39) |
G730R |
possibly damaging |
Het |
Amn |
T |
A |
12: 111,238,333 (GRCm39) |
M55K |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,055,102 (GRCm39) |
Y1334F |
probably damaging |
Het |
Arl14ep |
A |
C |
2: 106,799,574 (GRCm39) |
L89R |
probably damaging |
Het |
Bcam |
T |
G |
7: 19,498,111 (GRCm39) |
E304A |
probably damaging |
Het |
Car10 |
A |
T |
11: 93,488,077 (GRCm39) |
Y258F |
probably damaging |
Het |
Cerk |
T |
A |
15: 86,028,896 (GRCm39) |
K82* |
probably null |
Het |
Chac2 |
T |
C |
11: 30,927,496 (GRCm39) |
N141S |
probably damaging |
Het |
Clpx |
T |
G |
9: 65,231,541 (GRCm39) |
L556R |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,101,364 (GRCm39) |
I55V |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,269,546 (GRCm39) |
E895D |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
Dpys |
A |
G |
15: 39,720,701 (GRCm39) |
S20P |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,470,471 (GRCm39) |
V1490I |
probably benign |
Het |
Flg2 |
T |
G |
3: 93,109,044 (GRCm39) |
C357W |
probably damaging |
Het |
Flt1 |
T |
A |
5: 147,591,980 (GRCm39) |
D494V |
probably benign |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,513 (GRCm39) |
D173E |
probably benign |
Het |
Gm2666 |
G |
T |
1: 85,412,824 (GRCm39) |
|
noncoding transcript |
Het |
Gm3867 |
C |
A |
9: 36,169,096 (GRCm39) |
|
noncoding transcript |
Het |
Gm5436 |
A |
T |
12: 84,305,374 (GRCm39) |
|
noncoding transcript |
Het |
Kit |
G |
A |
5: 75,799,668 (GRCm39) |
V467I |
probably benign |
Het |
Krtap4-16 |
A |
G |
11: 99,741,863 (GRCm39) |
V179A |
unknown |
Het |
Lrp8 |
C |
A |
4: 107,718,478 (GRCm39) |
H693Q |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,517,605 (GRCm39) |
S75P |
probably benign |
Het |
Ltbp4 |
C |
A |
7: 27,013,806 (GRCm39) |
V1068L |
probably damaging |
Het |
Magel2 |
C |
T |
7: 62,028,008 (GRCm39) |
P304L |
possibly damaging |
Het |
Muc19 |
T |
A |
15: 91,766,850 (GRCm39) |
|
noncoding transcript |
Het |
Npas3 |
T |
C |
12: 53,993,980 (GRCm39) |
V175A |
possibly damaging |
Het |
Nr1h4 |
A |
T |
10: 89,352,342 (GRCm39) |
H8Q |
probably benign |
Het |
Ntsr2 |
G |
A |
12: 16,703,876 (GRCm39) |
V126M |
probably damaging |
Het |
Odf2 |
A |
T |
2: 29,816,725 (GRCm39) |
T725S |
probably damaging |
Het |
Or52e19b |
C |
T |
7: 103,032,822 (GRCm39) |
C129Y |
probably damaging |
Het |
Or5h17 |
C |
T |
16: 58,820,909 (GRCm39) |
P287L |
probably damaging |
Het |
Or9s13 |
T |
C |
1: 92,548,404 (GRCm39) |
Y259H |
possibly damaging |
Het |
Pgr |
T |
C |
9: 8,946,639 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
T |
A |
6: 139,603,562 (GRCm39) |
C249* |
probably null |
Het |
Plcd3 |
C |
T |
11: 102,961,929 (GRCm39) |
V726M |
possibly damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,617 (GRCm39) |
L140P |
probably damaging |
Het |
Prpf6 |
C |
A |
2: 181,264,056 (GRCm39) |
D239E |
probably damaging |
Het |
Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
Rimbp2 |
G |
T |
5: 128,874,809 (GRCm39) |
Q268K |
probably damaging |
Het |
Rps19-ps13 |
A |
T |
18: 40,859,447 (GRCm39) |
|
noncoding transcript |
Het |
Sema4c |
C |
A |
1: 36,591,965 (GRCm39) |
G266V |
probably damaging |
Het |
Sema4g |
T |
C |
19: 44,985,150 (GRCm39) |
F156S |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Speer4f1 |
G |
T |
5: 17,685,381 (GRCm39) |
L225F |
unknown |
Het |
Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 144,995,568 (GRCm39) |
E497G |
probably benign |
Het |
Trim3 |
T |
C |
7: 105,261,863 (GRCm39) |
N631S |
probably damaging |
Het |
Trim45 |
C |
T |
3: 100,838,943 (GRCm39) |
|
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,949,731 (GRCm39) |
D445G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGATGACCATTTCTGTGAGGC -3'
(R):5'- TCAGCATTAAAAGCAGAGTCCAG -3'
Sequencing Primer
(F):5'- AGGCACTGTAAAGAAGTATTCTTCC -3'
(R):5'- TTAAAAGCAGAGTCCAGTTCCCCTG -3'
|
Posted On |
2016-06-08 |