Incidental Mutation 'IGL02059:Prickle4'
ID |
185347 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prickle4
|
Ensembl Gene |
ENSMUSG00000096549 |
Gene Name |
prickle planar cell polarity protein 4 |
Synonyms |
LOC381104 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02059
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
47999442-48005661 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 48001174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 131
(L131M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024779]
[ENSMUST00000113296]
[ENSMUST00000113299]
[ENSMUST00000113300]
[ENSMUST00000113301]
[ENSMUST00000113302]
[ENSMUST00000143789]
[ENSMUST00000156118]
|
AlphaFold |
F6ZPB0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024779
|
SMART Domains |
Protein: ENSMUSP00000024779 Gene: ENSMUSG00000090115
Domain | Start | End | E-Value | Type |
ZnF_UBP
|
25 |
74 |
4.21e-17 |
SMART |
coiled coil region
|
165 |
203 |
N/A |
INTRINSIC |
low complexity region
|
224 |
237 |
N/A |
INTRINSIC |
Pfam:UCH
|
249 |
651 |
5.4e-61 |
PFAM |
Pfam:UCH_1
|
337 |
633 |
3.8e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113296
|
SMART Domains |
Protein: ENSMUSP00000108921 Gene: ENSMUSG00000023266
Domain | Start | End | E-Value | Type |
IRS
|
17 |
110 |
4.31e-33 |
SMART |
PTBI
|
18 |
110 |
1.23e-48 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113299
AA Change: L91M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108924 Gene: ENSMUSG00000096549 AA Change: L91M
Domain | Start | End | E-Value | Type |
Pfam:PET
|
22 |
74 |
2.7e-13 |
PFAM |
LIM
|
83 |
140 |
1.56e-7 |
SMART |
LIM
|
148 |
200 |
1.28e-12 |
SMART |
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
low complexity region
|
282 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113300
AA Change: L131M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108925 Gene: ENSMUSG00000096549 AA Change: L131M
Domain | Start | End | E-Value | Type |
Pfam:PET
|
62 |
114 |
6e-13 |
PFAM |
LIM
|
123 |
180 |
1.56e-7 |
SMART |
LIM
|
188 |
240 |
1.28e-12 |
SMART |
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113301
|
SMART Domains |
Protein: ENSMUSP00000108926 Gene: ENSMUSG00000033475
Domain | Start | End | E-Value | Type |
Pfam:TOMM6
|
1 |
74 |
4.1e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113302
|
SMART Domains |
Protein: ENSMUSP00000108927 Gene: ENSMUSG00000033475
Domain | Start | End | E-Value | Type |
Pfam:TOM6p
|
1 |
74 |
5.2e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128734
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000143789
AA Change: L131M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119045 Gene: ENSMUSG00000079444 AA Change: L131M
Domain | Start | End | E-Value | Type |
Pfam:PET
|
66 |
116 |
8.6e-12 |
PFAM |
LIM
|
123 |
180 |
1.56e-7 |
SMART |
LIM
|
188 |
240 |
1.28e-12 |
SMART |
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152214
AA Change: L66M
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000121465 Gene: ENSMUSG00000096549 AA Change: L66M
Domain | Start | End | E-Value | Type |
Pfam:PET
|
3 |
50 |
7.4e-14 |
PFAM |
LIM
|
59 |
116 |
1.56e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142014
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143156
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156118
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
Csf3r |
T |
A |
4: 125,925,920 (GRCm39) |
C168* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
Fem1b |
C |
T |
9: 62,703,446 (GRCm39) |
V605I |
possibly damaging |
Het |
Gclc |
T |
G |
9: 77,695,098 (GRCm39) |
S403A |
probably damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,354,891 (GRCm39) |
N118D |
probably benign |
Het |
Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,799,781 (GRCm39) |
D665E |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
probably damaging |
Het |
|
Other mutations in Prickle4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1225:Prickle4
|
UTSW |
17 |
47,999,614 (GRCm39) |
splice site |
probably null |
|
R1867:Prickle4
|
UTSW |
17 |
48,001,044 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3950:Prickle4
|
UTSW |
17 |
47,999,507 (GRCm39) |
missense |
probably benign |
0.04 |
R4328:Prickle4
|
UTSW |
17 |
47,999,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R4398:Prickle4
|
UTSW |
17 |
48,001,456 (GRCm39) |
intron |
probably benign |
|
R4890:Prickle4
|
UTSW |
17 |
48,000,806 (GRCm39) |
intron |
probably benign |
|
R5155:Prickle4
|
UTSW |
17 |
48,000,982 (GRCm39) |
critical splice donor site |
probably null |
|
R5801:Prickle4
|
UTSW |
17 |
47,999,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6056:Prickle4
|
UTSW |
17 |
48,001,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R6528:Prickle4
|
UTSW |
17 |
48,000,258 (GRCm39) |
nonsense |
probably null |
|
R8878:Prickle4
|
UTSW |
17 |
48,001,587 (GRCm39) |
missense |
|
|
R8978:Prickle4
|
UTSW |
17 |
47,999,772 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2014-05-07 |