Incidental Mutation 'IGL01533:Vangl1'
ID |
89850 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vangl1
|
Ensembl Gene |
ENSMUSG00000027860 |
Gene Name |
VANGL planar cell polarity 1 |
Synonyms |
stbm, KITENIN, Lpp2, mStbm |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.304)
|
Stock # |
IGL01533
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
102060899-102112009 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102070667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 423
(E423G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029453]
[ENSMUST00000159388]
[ENSMUST00000168312]
|
AlphaFold |
Q80Z96 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029453
AA Change: E423G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029453 Gene: ENSMUSG00000027860 AA Change: E423G
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Strabismus
|
23 |
360 |
3.4e-171 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000159388
|
SMART Domains |
Protein: ENSMUSP00000125043 Gene: ENSMUSG00000027860
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Strabismus
|
25 |
526 |
8.6e-262 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160226
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161021
AA Change: E149G
|
SMART Domains |
Protein: ENSMUSP00000125484 Gene: ENSMUSG00000027860 AA Change: E149G
Domain | Start | End | E-Value | Type |
Pfam:Strabismus
|
1 |
253 |
3.2e-118 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162361
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168312
AA Change: E373G
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000126254 Gene: ENSMUSG00000027860 AA Change: E373G
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
21 |
N/A |
INTRINSIC |
Pfam:Strabismus
|
23 |
357 |
1.2e-170 |
PFAM |
Pfam:Strabismus
|
354 |
476 |
9.5e-67 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,538,488 (GRCm39) |
E757* |
probably null |
Het |
Arhgap15 |
T |
C |
2: 44,133,165 (GRCm39) |
V357A |
probably damaging |
Het |
Asb13 |
T |
C |
13: 3,692,164 (GRCm39) |
V48A |
probably benign |
Het |
Bbs7 |
T |
C |
3: 36,664,384 (GRCm39) |
R74G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,943,830 (GRCm39) |
H568R |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,114,061 (GRCm39) |
E61G |
probably damaging |
Het |
Ccdc158 |
T |
C |
5: 92,757,815 (GRCm39) |
|
probably null |
Het |
Col14a1 |
C |
A |
15: 55,284,236 (GRCm39) |
N832K |
unknown |
Het |
Cyp2a4 |
A |
T |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,192,939 (GRCm39) |
L215P |
probably damaging |
Het |
Dtx4 |
T |
C |
19: 12,455,579 (GRCm39) |
M480V |
possibly damaging |
Het |
Edaradd |
A |
G |
13: 12,493,463 (GRCm39) |
|
probably benign |
Het |
Galnt13 |
T |
A |
2: 54,770,144 (GRCm39) |
M312K |
probably damaging |
Het |
Gcdh |
T |
A |
8: 85,615,991 (GRCm39) |
R337W |
probably damaging |
Het |
Gm28557 |
A |
T |
13: 67,219,396 (GRCm39) |
C109* |
probably null |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,502,395 (GRCm39) |
L379F |
probably damaging |
Het |
Gxylt2 |
T |
C |
6: 100,760,098 (GRCm39) |
L211P |
probably damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,651 (GRCm39) |
I2341F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,367,666 (GRCm39) |
D2365G |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,695 (GRCm39) |
|
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,945 (GRCm39) |
S579P |
probably benign |
Het |
Nlgn1 |
T |
C |
3: 25,490,527 (GRCm39) |
N400S |
possibly damaging |
Het |
Or5w17 |
C |
A |
2: 87,583,412 (GRCm39) |
R308S |
probably benign |
Het |
Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,126,065 (GRCm39) |
S1102P |
probably benign |
Het |
Polr1e |
A |
G |
4: 45,019,328 (GRCm39) |
Y59C |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,256,965 (GRCm39) |
Q1226* |
probably null |
Het |
Rab12 |
A |
T |
17: 66,804,430 (GRCm39) |
I176K |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,736,676 (GRCm39) |
N2250K |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,919 (GRCm39) |
T1865A |
probably damaging |
Het |
Sema6b |
G |
A |
17: 56,436,499 (GRCm39) |
|
probably benign |
Het |
Smarcb1 |
C |
T |
10: 75,752,602 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,722,511 (GRCm39) |
L845S |
probably damaging |
Het |
Stat4 |
T |
A |
1: 52,137,578 (GRCm39) |
N456K |
probably damaging |
Het |
Tex264 |
A |
G |
9: 106,550,798 (GRCm39) |
I133T |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,962,376 (GRCm39) |
V87A |
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,857,803 (GRCm39) |
D778N |
probably damaging |
Het |
Tspan14 |
A |
G |
14: 40,638,776 (GRCm39) |
I88T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,562,918 (GRCm39) |
V28679L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,782,285 (GRCm39) |
S984P |
probably damaging |
Het |
|
Other mutations in Vangl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00640:Vangl1
|
APN |
3 |
102,065,545 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL00870:Vangl1
|
APN |
3 |
102,096,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01981:Vangl1
|
APN |
3 |
102,091,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02792:Vangl1
|
APN |
3 |
102,070,739 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02800:Vangl1
|
APN |
3 |
102,070,611 (GRCm39) |
splice site |
probably benign |
|
IGL02942:Vangl1
|
APN |
3 |
102,091,347 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03029:Vangl1
|
APN |
3 |
102,091,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R0600:Vangl1
|
UTSW |
3 |
102,074,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R0904:Vangl1
|
UTSW |
3 |
102,091,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R1230:Vangl1
|
UTSW |
3 |
102,065,609 (GRCm39) |
missense |
probably benign |
0.00 |
R1829:Vangl1
|
UTSW |
3 |
102,070,782 (GRCm39) |
missense |
probably benign |
|
R2005:Vangl1
|
UTSW |
3 |
102,070,782 (GRCm39) |
missense |
probably benign |
|
R2268:Vangl1
|
UTSW |
3 |
102,104,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Vangl1
|
UTSW |
3 |
102,073,097 (GRCm39) |
intron |
probably benign |
|
R4662:Vangl1
|
UTSW |
3 |
102,074,238 (GRCm39) |
missense |
probably benign |
0.00 |
R4724:Vangl1
|
UTSW |
3 |
102,091,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Vangl1
|
UTSW |
3 |
102,065,608 (GRCm39) |
missense |
probably benign |
0.19 |
R5548:Vangl1
|
UTSW |
3 |
102,091,762 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5740:Vangl1
|
UTSW |
3 |
102,091,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R5758:Vangl1
|
UTSW |
3 |
102,091,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R6150:Vangl1
|
UTSW |
3 |
102,091,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R6373:Vangl1
|
UTSW |
3 |
102,065,764 (GRCm39) |
missense |
probably benign |
|
R6943:Vangl1
|
UTSW |
3 |
102,073,097 (GRCm39) |
intron |
probably benign |
|
R7474:Vangl1
|
UTSW |
3 |
102,091,565 (GRCm39) |
missense |
probably benign |
0.22 |
R7616:Vangl1
|
UTSW |
3 |
102,091,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R8120:Vangl1
|
UTSW |
3 |
102,070,758 (GRCm39) |
nonsense |
probably null |
|
R8827:Vangl1
|
UTSW |
3 |
102,070,736 (GRCm39) |
missense |
probably damaging |
0.99 |
R8859:Vangl1
|
UTSW |
3 |
102,065,758 (GRCm39) |
missense |
|
|
R9494:Vangl1
|
UTSW |
3 |
102,070,665 (GRCm39) |
missense |
probably damaging |
0.98 |
R9745:Vangl1
|
UTSW |
3 |
102,072,669 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-12-03 |