Incidental Mutation 'R5616:Cul1'
| ID |
439530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul1
|
| Ensembl Gene |
ENSMUSG00000029686 |
| Gene Name |
cullin 1 |
| Synonyms |
|
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47430516-47503078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 47500722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 707
(R707H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031697]
[ENSMUST00000146200]
|
| AlphaFold |
Q9WTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031697
AA Change: R707H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: R707H
| 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
|
| 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: ENSMUST00000149531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154201
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,084 (GRCm39) |
I162V |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- GTCCAGGGATGCAAAACGTG -3'
(R):5'- GATCTCTAAAGGAATAGAAGGTCCCC -3'
Sequencing Primer
(F):5'- CCAGGGATGCAAAACGTGTAGTTG -3'
(R):5'- TGCTTCCCAATACTTAGGCAAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation