Incidental Mutation 'R1013:Cul2'
| ID |
95923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul2
|
| Ensembl Gene |
ENSMUSG00000024231 |
| Gene Name |
cullin 2 |
| Synonyms |
4932411N15Rik, 1300003D18Rik |
| MMRRC Submission |
039117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R1013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
3382988-3436377 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 3425535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 378
(Y378*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025073]
[ENSMUST00000080089]
[ENSMUST00000161317]
[ENSMUST00000162301]
|
| AlphaFold |
Q9D4H8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025073
AA Change: Y378*
|
| SMART Domains |
Protein: ENSMUSP00000025073
Gene: ENSMUSG00000024231
AA Change: Y378*
| 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 |
probably null
Transcript: ENSMUST00000161317
AA Change: Y315*
|
| SMART Domains |
Protein: ENSMUSP00000123903
Gene: ENSMUSG00000024231
AA Change: Y315*
| Domain | Start | End | E-Value | Type |
|---|
|
CULLIN
|
353 |
505 |
1.19e-84 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161852
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162301
AA Change: Y378*
|
| SMART Domains |
Protein: ENSMUSP00000125403
Gene: ENSMUSG00000024231
AA Change: Y378*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
C |
T |
11: 88,078,853 (GRCm39) |
A327V |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
| Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
| Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
| Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
| Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
| Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
| Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
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 |
|
|
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 |
|
R6085:Cul2
|
UTSW |
18 |
3,431,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CACCCTAAGTCTCATGACAGACTCTGA -3'
(R):5'- GACAGACACTTCAAAGGCGGCA -3'
Sequencing Primer
(F):5'- ATAGCTAAGGTAGACCTTGCCTTC -3'
(R):5'- CACAAAGCCTCATAGGTTTGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation