Incidental Mutation 'R6812:Cul7'
| ID |
533875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul7
|
| Ensembl Gene |
ENSMUSG00000038545 |
| Gene Name |
cullin 7 |
| Synonyms |
p185, p193, C230011P08Rik, 2510004L20Rik |
| MMRRC Submission |
044924-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46961264-46975290 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46972335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1233
(I1233N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043464]
[ENSMUST00000133393]
[ENSMUST00000145567]
|
| AlphaFold |
Q8VE73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043464
AA Change: I1233N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
AA Change: I1233N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
349 |
423 |
5.7e-34 |
PFAM |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
APC10
|
811 |
973 |
9.35e-49 |
SMART |
|
low complexity region
|
983 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1301 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1370 |
N/A |
INTRINSIC |
|
Blast:Cullin_Nedd8
|
1550 |
1633 |
1e-41 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133393
|
| SMART Domains |
Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
51 |
126 |
8e-34 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
SCOP:d1gqpa_
|
487 |
568 |
1e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145567
|
| SMART Domains |
Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
SCOP:d1jdha_
|
63 |
222 |
2e-4 |
SMART |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
349 |
424 |
9.5e-34 |
PFAM |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5401 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: During late gestation, homozygous null fetuses display reduced growth associated with abnormal placental development and hemorrhaging due to vascular defects. Mutant mice are born but die shortly after birth, succumbing to respiratory distress. [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 |
|---|
| Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
| Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
| Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
| Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
| Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
| Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
| Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
| Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
| Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
| F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
| Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
| Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
| Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
| Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
| Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
| Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
| Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
| Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
| Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
| Rbm27 |
T |
A |
18: 42,466,468 (GRCm39) |
|
probably null |
Het |
| Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
| Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
| Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
| Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
| Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
possibly damaging |
Het |
|
| Other mutations in Cul7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Cul7
|
APN |
17 |
46,963,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Cul7
|
APN |
17 |
46,968,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL01669:Cul7
|
APN |
17 |
46,969,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
P0019:Cul7
|
UTSW |
17 |
46,971,173 (GRCm39) |
splice site |
probably benign |
|
|
PIT4453001:Cul7
|
UTSW |
17 |
46,962,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0083:Cul7
|
UTSW |
17 |
46,966,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0121:Cul7
|
UTSW |
17 |
46,974,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0157:Cul7
|
UTSW |
17 |
46,964,761 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0266:Cul7
|
UTSW |
17 |
46,965,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0358:Cul7
|
UTSW |
17 |
46,974,670 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0544:Cul7
|
UTSW |
17 |
46,974,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0565:Cul7
|
UTSW |
17 |
46,962,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0677:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0696:Cul7
|
UTSW |
17 |
46,970,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0735:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0893:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0900:Cul7
|
UTSW |
17 |
46,969,263 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0975:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0976:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1014:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1016:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1104:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1162:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1378:Cul7
|
UTSW |
17 |
46,973,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1479:Cul7
|
UTSW |
17 |
46,962,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Cul7
|
UTSW |
17 |
46,966,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1521:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1542:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1545:Cul7
|
UTSW |
17 |
46,962,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Cul7
|
UTSW |
17 |
46,974,017 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1600:Cul7
|
UTSW |
17 |
46,962,748 (GRCm39) |
nonsense |
probably null |
|
|
R1618:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Cul7
|
UTSW |
17 |
46,964,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1881:Cul7
|
UTSW |
17 |
46,962,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Cul7
|
UTSW |
17 |
46,966,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Cul7
|
UTSW |
17 |
46,966,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Cul7
|
UTSW |
17 |
46,974,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Cul7
|
UTSW |
17 |
46,962,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2370:Cul7
|
UTSW |
17 |
46,972,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2929:Cul7
|
UTSW |
17 |
46,962,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2930:Cul7
|
UTSW |
17 |
46,962,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2990:Cul7
|
UTSW |
17 |
46,962,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2992:Cul7
|
UTSW |
17 |
46,962,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4201:Cul7
|
UTSW |
17 |
46,972,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Cul7
|
UTSW |
17 |
46,967,976 (GRCm39) |
nonsense |
probably null |
|
|
R4971:Cul7
|
UTSW |
17 |
46,970,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5014:Cul7
|
UTSW |
17 |
46,966,868 (GRCm39) |
makesense |
probably null |
|
|
R5384:Cul7
|
UTSW |
17 |
46,965,403 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5957:Cul7
|
UTSW |
17 |
46,968,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Cul7
|
UTSW |
17 |
46,962,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Cul7
|
UTSW |
17 |
46,974,074 (GRCm39) |
missense |
probably benign |
|
|
R7073:Cul7
|
UTSW |
17 |
46,969,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Cul7
|
UTSW |
17 |
46,962,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Cul7
|
UTSW |
17 |
46,972,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7361:Cul7
|
UTSW |
17 |
46,967,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Cul7
|
UTSW |
17 |
46,965,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Cul7
|
UTSW |
17 |
46,966,521 (GRCm39) |
missense |
probably benign |
|
|
R7689:Cul7
|
UTSW |
17 |
46,963,747 (GRCm39) |
nonsense |
probably null |
|
|
R7797:Cul7
|
UTSW |
17 |
46,969,568 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7897:Cul7
|
UTSW |
17 |
46,968,931 (GRCm39) |
missense |
probably benign |
|
|
R8783:Cul7
|
UTSW |
17 |
46,966,575 (GRCm39) |
missense |
probably benign |
|
|
R9047:Cul7
|
UTSW |
17 |
46,965,448 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9167:Cul7
|
UTSW |
17 |
46,966,623 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9614:Cul7
|
UTSW |
17 |
46,975,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cul7
|
UTSW |
17 |
46,970,495 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cul7
|
UTSW |
17 |
46,969,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cul7
|
UTSW |
17 |
46,963,731 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGTGGTCATCCATACCTG -3'
(R):5'- AGACGGTCAGCCATGTAGTG -3'
Sequencing Primer
(F):5'- AGGTGGTCATCCATACCTGCTTTC -3'
(R):5'- TCAGCCATGTAGTGCCTGCAG -3'
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| Posted On |
2018-09-12 |
Incidental Mutation