Incidental Mutation 'R0746:Cul1'
ID |
70127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cul1
|
Ensembl Gene |
ENSMUSG00000029686 |
Gene Name |
cullin 1 |
Synonyms |
|
MMRRC Submission |
038927-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0746 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 47495222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000031697]
[ENSMUST00000146200]
[ENSMUST00000146200]
|
AlphaFold |
Q9WTX6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031697
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686
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 null
Transcript: ENSMUST00000031697
|
SMART Domains |
Protein: ENSMUSP00000031697 Gene: ENSMUSG00000029686
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 null
Transcript: ENSMUST00000146200
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686
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 null
Transcript: ENSMUST00000146200
|
SMART Domains |
Protein: ENSMUSP00000122702 Gene: ENSMUSG00000029686
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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
Adamts10 |
T |
A |
17: 33,768,521 (GRCm39) |
C866* |
probably null |
Het |
Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
Fus |
A |
G |
7: 127,584,596 (GRCm39) |
|
probably benign |
Het |
Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
Ptprn2 |
A |
C |
12: 116,864,637 (GRCm39) |
M551L |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
Tmem115 |
C |
T |
9: 107,415,198 (GRCm39) |
T329M |
probably benign |
Het |
Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
Het |
Yars1 |
C |
A |
4: 129,091,079 (GRCm39) |
S162R |
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 |
|
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 |
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'- GCTTTCAGATGTGCAACATTCCACC -3'
(R):5'- TGGTCTCACTCAGCAAAGCTGC -3'
Sequencing Primer
(F):5'- CTGCATATTGAAGACCCAATTGTCC -3'
(R):5'- GCCACCATCCCATCTGG -3'
|
Posted On |
2013-09-30 |