Incidental Mutation 'R1225:Prickle4'
| ID |
152889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prickle4
|
| Ensembl Gene |
ENSMUSG00000096549 |
| Gene Name |
prickle planar cell polarity protein 4 |
| Synonyms |
LOC381104 |
| MMRRC Submission |
039294-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47999442-48005661 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1951 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 47999614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024779]
[ENSMUST00000113299]
[ENSMUST00000113300]
[ENSMUST00000113301]
[ENSMUST00000113302]
[ENSMUST00000132397]
[ENSMUST00000143789]
[ENSMUST00000156118]
|
| AlphaFold |
F6ZPB0 |
| Predicted Effect |
probably null
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: ENSMUST00000113299
AA Change: Q273P
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108924
Gene: ENSMUSG00000096549
AA Change: Q273P
| 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 benign
Transcript: ENSMUST00000113300
AA Change: Q313P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000108925
Gene: ENSMUSG00000096549
AA Change: Q313P
| 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 |
probably benign
Transcript: ENSMUST00000132397
|
| SMART Domains |
Protein: ENSMUSP00000117658
Gene: ENSMUSG00000023984
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med20
|
1 |
149 |
1.6e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143789
AA Change: Q313P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000119045
Gene: ENSMUSG00000079444
AA Change: Q313P
| 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 |
noncoding transcript
Transcript: ENSMUST00000155812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152214
|
| SMART Domains |
Protein: ENSMUSP00000121465
Gene: ENSMUSG00000096549
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PET
|
3 |
50 |
7.4e-14 |
PFAM |
|
LIM
|
59 |
116 |
1.56e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156118
|
| Meta Mutation Damage Score |
0.1164 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
100% (43/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
| Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
| Atp2c2 |
C |
A |
8: 120,461,984 (GRCm39) |
Q286K |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,127,165 (GRCm39) |
E209G |
probably damaging |
Het |
| Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
| Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
| Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
| Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
| Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr4 |
C |
T |
12: 84,024,820 (GRCm39) |
E334K |
probably benign |
Het |
| Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
| Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
| Inhca |
A |
T |
9: 103,132,038 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
| Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,600 (GRCm38) |
I161F |
possibly damaging |
Het |
| Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
| Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
| Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
| Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
| Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
| Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
| Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
probably null |
Het |
|
| Other mutations in Prickle4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02059:Prickle4
|
APN |
17 |
48,001,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACAGCCTTGTTATCTCGCTAC -3'
(R):5'- AATTTCCCAGATCAGAACCCTTCGC -3'
Sequencing Primer
(F):5'- cccaccccaccccaatc -3'
(R):5'- CCTCTTGCACAAGGACTTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation