Incidental Mutation 'IGL02683:Vezf1'
| ID |
303452 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vezf1
|
| Ensembl Gene |
ENSMUSG00000018377 |
| Gene Name |
vascular endothelial zinc finger 1 |
| Synonyms |
db1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87959105-87975555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87967153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 310
(Q310L)
|
| 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: Q310L
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018521
Gene: ENSMUSG00000018377
AA Change: Q310L
| 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: Q128L
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114394
Gene: ENSMUSG00000018377
AA Change: Q128L
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,779,163 (GRCm39) |
|
probably benign |
Het |
| Abhd3 |
A |
G |
18: 10,658,790 (GRCm39) |
S215P |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,621 (GRCm39) |
V244M |
probably damaging |
Het |
| Akr1c21 |
A |
C |
13: 4,626,312 (GRCm39) |
D112A |
probably damaging |
Het |
| Ano6 |
A |
T |
15: 95,846,193 (GRCm39) |
Y498F |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,592,052 (GRCm39) |
F263S |
probably damaging |
Het |
| Capn11 |
A |
G |
17: 45,964,517 (GRCm39) |
F100S |
probably damaging |
Het |
| Cd63 |
T |
C |
10: 128,746,299 (GRCm39) |
C9R |
probably damaging |
Het |
| Cenpj |
T |
C |
14: 56,790,409 (GRCm39) |
K547E |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,466,996 (GRCm39) |
D793G |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Crybg1 |
A |
G |
10: 43,865,212 (GRCm39) |
S1422P |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnal1 |
G |
A |
12: 84,185,128 (GRCm39) |
G178D |
probably damaging |
Het |
| E2f7 |
T |
C |
10: 110,618,320 (GRCm39) |
M795T |
probably benign |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,381 (GRCm39) |
V34A |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,705,261 (GRCm39) |
V151M |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 35,937,762 (GRCm39) |
T448A |
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,076 (GRCm39) |
T41A |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,937 (GRCm39) |
M12T |
possibly damaging |
Het |
| Kif1c |
G |
A |
11: 70,617,278 (GRCm39) |
A871T |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,358,362 (GRCm39) |
K571R |
probably damaging |
Het |
| Med23 |
C |
A |
10: 24,746,615 (GRCm39) |
A45E |
probably benign |
Het |
| Nudt5 |
C |
A |
2: 5,868,412 (GRCm39) |
S103R |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,448 (GRCm39) |
T191S |
possibly damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,384 (GRCm39) |
S369P |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,541 (GRCm39) |
L25Q |
probably benign |
Het |
| Pon2 |
A |
G |
6: 5,269,062 (GRCm39) |
V204A |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,067,095 (GRCm39) |
M463T |
probably damaging |
Het |
| Ppp1r14d |
T |
C |
2: 119,049,303 (GRCm39) |
E95G |
probably damaging |
Het |
| Pramel18 |
T |
C |
4: 101,767,551 (GRCm39) |
S267P |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,374,969 (GRCm39) |
V1227A |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,392,951 (GRCm39) |
W536R |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,408,397 (GRCm39) |
N431S |
probably benign |
Het |
| Spen |
C |
T |
4: 141,198,956 (GRCm39) |
V3224I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Stat5b |
T |
G |
11: 100,695,772 (GRCm39) |
K70T |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,465 (GRCm39) |
D458G |
probably benign |
Het |
| Tut1 |
T |
A |
19: 8,942,622 (GRCm39) |
C570S |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,701,101 (GRCm39) |
E974G |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,327,115 (GRCm39) |
R574S |
probably benign |
Het |
| Zfp664 |
T |
C |
5: 124,963,386 (GRCm39) |
V260A |
probably benign |
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 |
|
|
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 |
|
R6680:Vezf1
|
UTSW |
11 |
87,972,410 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation