Incidental Mutation 'R5855:Cul1'
| ID |
454865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul1
|
| Ensembl Gene |
ENSMUSG00000029686 |
| Gene Name |
cullin 1 |
| Synonyms |
|
| MMRRC Submission |
043229-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5855 (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 47500147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 653
(D653N)
|
| 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: D653N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031697
Gene: ENSMUSG00000029686
AA Change: D653N
| 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: D653N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000122702
Gene: ENSMUSG00000029686
AA Change: D653N
| 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: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
| Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
| Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
| Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
| Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
| Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
| Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
| Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
| Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
| Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
| Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
| Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
| Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
|
|
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 |
|
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'- TGATGACCATTTCTGTGAGGC -3'
(R):5'- CAGCATTAAAAGCAGAGTCCAG -3'
Sequencing Primer
(F):5'- AGGCACTGTAAAGAAGTATTCTTCC -3'
(R):5'- TTAAAAGCAGAGTCCAGTTCCCCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation