Incidental Mutation 'R6085:Cul2'
| ID |
482453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul2
|
| Ensembl Gene |
ENSMUSG00000024231 |
| Gene Name |
cullin 2 |
| Synonyms |
4932411N15Rik, 1300003D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R6085 (G1)
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3431508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 638
(F638L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
| AlphaFold |
Q9D4H8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025073
AA Change: F638L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: F638L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ldja2
|
11 |
386 |
1e-109 |
SMART |
|
CULLIN
|
416 |
568 |
1.19e-84 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
Pfam:Cullin_Nedd8
|
651 |
700 |
9.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080089
|
| SMART Domains |
Protein: ENSMUSP00000078988
Gene: ENSMUSG00000024231
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cullin
|
14 |
88 |
2.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159443
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161317
AA Change: F575L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: F575L
| Domain | Start | End | E-Value | Type |
|---|
|
CULLIN
|
353 |
505 |
1.19e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162301
AA Change: F638L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: F638L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ldja2
|
11 |
386 |
1e-108 |
SMART |
|
CULLIN
|
416 |
568 |
1.19e-84 |
SMART |
|
low complexity region
|
636 |
646 |
N/A |
INTRINSIC |
|
Cullin_Nedd8
|
672 |
739 |
1.01e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
| Mgrn1 |
A |
G |
16: 4,738,240 (GRCm39) |
T265A |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Pld4 |
A |
G |
12: 112,733,320 (GRCm39) |
T299A |
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,572,106 (GRCm39) |
I38N |
probably damaging |
Het |
| Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
| Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
| Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
| Tssk1 |
G |
A |
16: 17,712,848 (GRCm39) |
C211Y |
possibly damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
probably benign |
Het |
|
| Other mutations in Cul2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Cul2
|
APN |
18 |
3,423,487 (GRCm39) |
missense |
probably benign |
|
|
IGL01293:Cul2
|
APN |
18 |
3,419,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02719:Cul2
|
APN |
18 |
3,434,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Cul2
|
APN |
18 |
3,426,920 (GRCm39) |
splice site |
probably benign |
|
|
IGL03190:Cul2
|
APN |
18 |
3,429,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03389:Cul2
|
APN |
18 |
3,431,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03409:Cul2
|
APN |
18 |
3,429,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Cul2
|
UTSW |
18 |
3,414,115 (GRCm39) |
splice site |
probably benign |
|
|
R1013:Cul2
|
UTSW |
18 |
3,425,535 (GRCm39) |
nonsense |
probably null |
|
|
R1119:Cul2
|
UTSW |
18 |
3,419,335 (GRCm39) |
splice site |
probably benign |
|
|
R1743:Cul2
|
UTSW |
18 |
3,426,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cul2
|
UTSW |
18 |
3,414,164 (GRCm39) |
missense |
probably benign |
|
|
R2252:Cul2
|
UTSW |
18 |
3,399,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Cul2
|
UTSW |
18 |
3,399,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3898:Cul2
|
UTSW |
18 |
3,434,033 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4386:Cul2
|
UTSW |
18 |
3,434,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4579:Cul2
|
UTSW |
18 |
3,430,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4828:Cul2
|
UTSW |
18 |
3,431,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Cul2
|
UTSW |
18 |
3,421,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Cul2
|
UTSW |
18 |
3,417,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6805:Cul2
|
UTSW |
18 |
3,421,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Cul2
|
UTSW |
18 |
3,434,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Cul2
|
UTSW |
18 |
3,426,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7690:Cul2
|
UTSW |
18 |
3,419,420 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8114:Cul2
|
UTSW |
18 |
3,426,164 (GRCm39) |
nonsense |
probably null |
|
|
R8414:Cul2
|
UTSW |
18 |
3,399,912 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8736:Cul2
|
UTSW |
18 |
3,434,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8849:Cul2
|
UTSW |
18 |
3,423,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9199:Cul2
|
UTSW |
18 |
3,423,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9443:Cul2
|
UTSW |
18 |
3,434,041 (GRCm39) |
nonsense |
probably null |
|
|
R9709:Cul2
|
UTSW |
18 |
3,431,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Cul2
|
UTSW |
18 |
3,419,435 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACTTGTTAGTATTGTGGCTAC -3'
(R):5'- CTGGCAGTCAATAAGGCCAAC -3'
Sequencing Primer
(F):5'- TACTGCAGCAGTTTCAGACAG -3'
(R):5'- ATTAATTTCAGAGTGCAGAGGTTTGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation