Incidental Mutation 'R6680:Vezf1'
| ID |
527461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vezf1
|
| Ensembl Gene |
ENSMUSG00000018377 |
| Gene Name |
vascular endothelial zinc finger 1 |
| Synonyms |
db1 |
| MMRRC Submission |
044799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87959105-87975555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87972410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 439
(I439T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018521]
[ENSMUST00000143052]
|
| AlphaFold |
Q5SXC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018521
AA Change: I439T
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: I439T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
24 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
74 |
96 |
3.83e-2 |
SMART |
|
low complexity region
|
137 |
172 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
174 |
196 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
232 |
255 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
287 |
308 |
2.61e1 |
SMART |
|
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143052
AA Change: I257T
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: I257T
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
14 |
36 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
44 |
67 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
73 |
101 |
2.47e1 |
SMART |
|
ZnF_C2H2
|
105 |
126 |
2.61e1 |
SMART |
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
290 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0646 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]
PHENOTYPE: Homozygous null mice die at midgestation due to angiogenic remodeling defects and loss of vascular integrity leading to hemorrhaging in the head, heart and trunk. One fifth of heterozygous null embryos show lymphatic hypervascularization associated with hemorrhaging and edema in the jugular region. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,967,117 (GRCm39) |
|
probably null |
Het |
| AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
| Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
| Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
| Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
| Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
| Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
| Or51a39 |
T |
A |
7: 102,363,522 (GRCm39) |
I33F |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
| Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
| Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
| Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
| Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
| Zfp579 |
A |
G |
7: 4,996,501 (GRCm39) |
L470P |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,897,660 (GRCm39) |
N327S |
probably benign |
Het |
| Zscan4d |
A |
T |
7: 10,896,366 (GRCm39) |
S335T |
possibly damaging |
Het |
|
| Other mutations in Vezf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Vezf1
|
APN |
11 |
87,964,320 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL00576:Vezf1
|
APN |
11 |
87,964,470 (GRCm39) |
nonsense |
probably null |
|
|
IGL02683:Vezf1
|
APN |
11 |
87,967,153 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02700:Vezf1
|
APN |
11 |
87,964,129 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02701:Vezf1
|
APN |
11 |
87,967,047 (GRCm39) |
nonsense |
probably null |
|
|
R0541:Vezf1
|
UTSW |
11 |
87,972,403 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0591:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0592:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0725:Vezf1
|
UTSW |
11 |
87,964,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0758:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0803:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0853:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0854:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R1491:Vezf1
|
UTSW |
11 |
87,964,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Vezf1
|
UTSW |
11 |
87,967,125 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1781:Vezf1
|
UTSW |
11 |
87,972,447 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3898:Vezf1
|
UTSW |
11 |
87,966,999 (GRCm39) |
missense |
probably benign |
|
|
R4656:Vezf1
|
UTSW |
11 |
87,965,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Vezf1
|
UTSW |
11 |
87,965,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5946:Vezf1
|
UTSW |
11 |
87,964,560 (GRCm39) |
nonsense |
probably null |
|
|
R6190:Vezf1
|
UTSW |
11 |
87,967,012 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6258:Vezf1
|
UTSW |
11 |
87,972,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Vezf1
|
UTSW |
11 |
87,972,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Vezf1
|
UTSW |
11 |
87,972,496 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6983:Vezf1
|
UTSW |
11 |
87,964,145 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7086:Vezf1
|
UTSW |
11 |
87,969,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7322:Vezf1
|
UTSW |
11 |
87,972,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7443:Vezf1
|
UTSW |
11 |
87,965,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Vezf1
|
UTSW |
11 |
87,972,553 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9006:Vezf1
|
UTSW |
11 |
87,965,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Vezf1
|
UTSW |
11 |
88,068,435 (GRCm38) |
critical splice donor site |
probably benign |
|
|
X0067:Vezf1
|
UTSW |
11 |
87,972,554 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1176:Vezf1
|
UTSW |
11 |
87,965,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTTGAGAGTCTAAAGTCCCC -3'
(R):5'- TTGAGAGGGGCAGCTAATGTC -3'
Sequencing Primer
(F):5'- TTAGAAGCTGCCAACCTGTG -3'
(R):5'- CAGCTAATGTCATAGGAGTGGGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation