Incidental Mutation 'R0064:Cul1'
| ID |
34397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul1
|
| Ensembl Gene |
ENSMUSG00000029686 |
| Gene Name |
cullin 1 |
| Synonyms |
|
| MMRRC Submission |
038356-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 47479349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000146200]
|
| AlphaFold |
Q9WTX6 |
| Predicted Effect |
probably benign
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 benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
T |
11: 110,035,698 (GRCm39) |
L641M |
probably damaging |
Het |
| Abca9 |
A |
C |
11: 110,035,697 (GRCm39) |
L641R |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,888,288 (GRCm39) |
I377M |
probably benign |
Het |
| Arhgef17 |
C |
A |
7: 100,530,561 (GRCm39) |
M1408I |
probably benign |
Het |
| Bcl2a1a |
G |
C |
9: 88,839,516 (GRCm39) |
G138A |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,957,830 (GRCm39) |
L617P |
probably damaging |
Het |
| Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
| Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,400,523 (GRCm39) |
H1079R |
probably benign |
Het |
| Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Crlf3 |
A |
G |
11: 79,948,728 (GRCm39) |
I239T |
possibly damaging |
Het |
| Cstf2t |
T |
A |
19: 31,060,699 (GRCm39) |
N78K |
probably damaging |
Het |
| D430041D05Rik |
T |
G |
2: 104,079,502 (GRCm39) |
T1194P |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fbxw14 |
A |
T |
9: 109,116,660 (GRCm39) |
Y16* |
probably null |
Het |
| Fgd3 |
T |
G |
13: 49,449,901 (GRCm39) |
D116A |
possibly damaging |
Het |
| Gm7168 |
C |
T |
17: 14,170,121 (GRCm39) |
T496I |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Klhl5 |
T |
A |
5: 65,298,631 (GRCm39) |
S137T |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
| Lpcat1 |
T |
A |
13: 73,662,585 (GRCm39) |
N463K |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,499,199 (GRCm39) |
S412T |
possibly damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
| Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,091,558 (GRCm39) |
|
probably benign |
Het |
| Nutf2 |
A |
G |
8: 106,605,441 (GRCm39) |
D92G |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
| Or2ak7 |
G |
A |
11: 58,575,301 (GRCm39) |
V201M |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,769,228 (GRCm39) |
|
probably null |
Het |
| Pmpca |
C |
A |
2: 26,285,519 (GRCm39) |
D498E |
probably benign |
Het |
| Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
| Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,769,711 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,281,209 (GRCm39) |
D367G |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
| Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,954,395 (GRCm39) |
|
probably null |
Het |
| Tie1 |
A |
G |
4: 118,346,898 (GRCm39) |
V2A |
possibly damaging |
Het |
| Tma16 |
A |
T |
8: 66,929,457 (GRCm39) |
I179K |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
| Ttc3 |
A |
T |
16: 94,223,106 (GRCm39) |
H197L |
possibly damaging |
Het |
| Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
| Vmn1r24 |
T |
G |
6: 57,933,003 (GRCm39) |
I172L |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,209 (GRCm39) |
I690N |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,791,053 (GRCm39) |
I82L |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,888 (GRCm39) |
I684N |
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 |
|
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 |
|
|
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'- TGAAGTGTTCCTGGCACAAGTAAGG -3'
(R):5'- TGACAGCAGTGACAAGCCTGAC -3'
Sequencing Primer
(F):5'- GGCACAAGTAAGGATTATTTGCTG -3'
(R):5'- TGACAAGCCTGACTGGTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation