Incidental Mutation 'R4794:Prg4'
| ID |
368819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prg4
|
| Ensembl Gene |
ENSMUSG00000006014 |
| Gene Name |
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) |
| Synonyms |
DOL54, SZP, lubricin, MSF |
| MMRRC Submission |
042420-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
150449412-150466165 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 150454546 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006171]
[ENSMUST00000111901]
[ENSMUST00000111902]
[ENSMUST00000119161]
[ENSMUST00000124484]
[ENSMUST00000124973]
[ENSMUST00000159035]
[ENSMUST00000161611]
[ENSMUST00000164600]
[ENSMUST00000162367]
[ENSMUST00000161320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006171
|
| SMART Domains |
Protein: ENSMUSP00000006171
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
HX
|
169 |
211 |
1.67e-7 |
SMART |
|
HX
|
213 |
256 |
3.76e-10 |
SMART |
|
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111901
AA Change: L536Q
|
| SMART Domains |
Protein: ENSMUSP00000107532
Gene: ENSMUSG00000006014
AA Change: L536Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
623 |
N/A |
INTRINSIC |
|
HX
|
711 |
753 |
1.67e-7 |
SMART |
|
HX
|
755 |
798 |
3.76e-10 |
SMART |
|
Blast:HX
|
911 |
964 |
5e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111902
AA Change: L583Q
|
| SMART Domains |
Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: L583Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
2.71e-15 |
SMART |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
582 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
588 |
614 |
2.72e-5 |
PROSPERO |
|
low complexity region
|
617 |
670 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
680 |
706 |
2.72e-5 |
PROSPERO |
|
HX
|
758 |
800 |
1.67e-7 |
SMART |
|
HX
|
802 |
845 |
3.76e-10 |
SMART |
|
Blast:HX
|
958 |
1011 |
4e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119161
|
| SMART Domains |
Protein: ENSMUSP00000112606
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
49 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
coiled coil region
|
539 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
795 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1019 |
N/A |
INTRINSIC |
|
Pfam:TPR_MLP1_2
|
1036 |
1167 |
9.1e-33 |
PFAM |
|
coiled coil region
|
1215 |
1421 |
N/A |
INTRINSIC |
|
coiled coil region
|
1473 |
1629 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1630 |
1691 |
1.48e-5 |
PROSPERO |
|
low complexity region
|
1695 |
1717 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1777 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1814 |
1827 |
5.58e-5 |
PROSPERO |
|
internal_repeat_3
|
1819 |
1881 |
1.48e-5 |
PROSPERO |
|
internal_repeat_4
|
1875 |
1895 |
5.58e-5 |
PROSPERO |
|
internal_repeat_1
|
1893 |
1919 |
2.03e-6 |
PROSPERO |
|
low complexity region
|
1920 |
1933 |
N/A |
INTRINSIC |
|
low complexity region
|
1942 |
1981 |
N/A |
INTRINSIC |
|
low complexity region
|
1989 |
2014 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
2017 |
2036 |
5.58e-5 |
PROSPERO |
|
low complexity region
|
2059 |
2078 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2084 |
2135 |
3.95e-6 |
PROSPERO |
|
internal_repeat_5
|
2127 |
2140 |
5.58e-5 |
PROSPERO |
|
internal_repeat_1
|
2154 |
2179 |
2.03e-6 |
PROSPERO |
|
internal_repeat_2
|
2156 |
2212 |
3.95e-6 |
PROSPERO |
|
low complexity region
|
2239 |
2251 |
N/A |
INTRINSIC |
|
low complexity region
|
2263 |
2277 |
N/A |
INTRINSIC |
|
low complexity region
|
2292 |
2314 |
N/A |
INTRINSIC |
|
low complexity region
|
2346 |
2357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124484
|
| SMART Domains |
Protein: ENSMUSP00000121991
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124973
|
| SMART Domains |
Protein: ENSMUSP00000117616
Gene: ENSMUSG00000006005
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
77 |
N/A |
INTRINSIC |
|
coiled coil region
|
123 |
444 |
N/A |
INTRINSIC |
|
coiled coil region
|
497 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
608 |
N/A |
INTRINSIC |
|
coiled coil region
|
613 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
764 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
900 |
N/A |
INTRINSIC |
|
low complexity region
|
1077 |
1093 |
N/A |
INTRINSIC |
|
Pfam:TPR_MLP1_2
|
1112 |
1240 |
5.1e-37 |
PFAM |
|
coiled coil region
|
1289 |
1495 |
N/A |
INTRINSIC |
|
low complexity region
|
1682 |
1698 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1703 |
1750 |
8.04e-5 |
PROSPERO |
|
internal_repeat_3
|
1704 |
1765 |
1.07e-5 |
PROSPERO |
|
low complexity region
|
1769 |
1791 |
N/A |
INTRINSIC |
|
low complexity region
|
1835 |
1851 |
N/A |
INTRINSIC |
|
internal_repeat_5
|
1857 |
1900 |
8.04e-5 |
PROSPERO |
|
internal_repeat_6
|
1887 |
1911 |
8.04e-5 |
PROSPERO |
|
internal_repeat_3
|
1893 |
1955 |
1.07e-5 |
PROSPERO |
|
internal_repeat_4
|
1949 |
1969 |
4.1e-5 |
PROSPERO |
|
internal_repeat_1
|
1967 |
1993 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
1994 |
2007 |
N/A |
INTRINSIC |
|
low complexity region
|
2016 |
2055 |
N/A |
INTRINSIC |
|
low complexity region
|
2063 |
2088 |
N/A |
INTRINSIC |
|
internal_repeat_4
|
2091 |
2110 |
4.1e-5 |
PROSPERO |
|
internal_repeat_6
|
2108 |
2132 |
8.04e-5 |
PROSPERO |
|
low complexity region
|
2133 |
2152 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
2158 |
2209 |
2.78e-6 |
PROSPERO |
|
internal_repeat_1
|
2228 |
2253 |
1.42e-6 |
PROSPERO |
|
internal_repeat_2
|
2230 |
2286 |
2.78e-6 |
PROSPERO |
|
low complexity region
|
2313 |
2325 |
N/A |
INTRINSIC |
|
low complexity region
|
2337 |
2351 |
N/A |
INTRINSIC |
|
low complexity region
|
2366 |
2388 |
N/A |
INTRINSIC |
|
low complexity region
|
2420 |
2431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159035
|
| SMART Domains |
Protein: ENSMUSP00000124410
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
2.71e-15 |
SMART |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161611
AA Change: L792Q
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: L792Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
2.77e-12 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
|
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
|
Pfam:Cornifin
|
578 |
691 |
2.2e-9 |
PFAM |
|
internal_repeat_3
|
796 |
825 |
7.42e-5 |
PROSPERO |
|
internal_repeat_2
|
797 |
823 |
1.24e-5 |
PROSPERO |
|
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
|
HX
|
967 |
1009 |
1.67e-7 |
SMART |
|
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
|
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164600
AA Change: L792Q
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: L792Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
2.77e-12 |
SMART |
|
low complexity region
|
110 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
244 |
271 |
7.42e-5 |
PROSPERO |
|
low complexity region
|
277 |
309 |
N/A |
INTRINSIC |
|
Pfam:Cornifin
|
404 |
497 |
2.4e-14 |
PFAM |
|
Pfam:Cornifin
|
468 |
584 |
3.2e-15 |
PFAM |
|
Pfam:Cornifin
|
550 |
648 |
3.3e-16 |
PFAM |
|
Pfam:Cornifin
|
625 |
722 |
2.1e-15 |
PFAM |
|
Pfam:Cornifin
|
647 |
743 |
7.8e-16 |
PFAM |
|
Pfam:Cornifin
|
706 |
822 |
1.4e-12 |
PFAM |
|
low complexity region
|
826 |
879 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
889 |
915 |
1.24e-5 |
PROSPERO |
|
HX
|
967 |
1009 |
1.67e-7 |
SMART |
|
HX
|
1011 |
1054 |
3.76e-10 |
SMART |
|
Blast:HX
|
1167 |
1220 |
6e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162367
|
| SMART Domains |
Protein: ENSMUSP00000125551
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
26 |
68 |
9.21e-18 |
SMART |
|
SO
|
69 |
108 |
4.21e-12 |
SMART |
|
low complexity region
|
110 |
124 |
N/A |
INTRINSIC |
|
HX
|
169 |
211 |
1.67e-7 |
SMART |
|
HX
|
213 |
256 |
3.76e-10 |
SMART |
|
Blast:HX
|
369 |
422 |
2e-27 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161320
|
| SMART Domains |
Protein: ENSMUSP00000124801
Gene: ENSMUSG00000006014
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SO
|
25 |
67 |
3.83e-15 |
SMART |
|
low complexity region
|
69 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1324 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
97% (75/77) |
| MGI Phenotype |
PHENOTYPE: Aging homozygous null mice develop a hopping gait, irregular endochondral growth plates, altered cartilage surface, camptodactyly, progressive synovial hyperplasia and, ultimately, joint failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,421,424 (GRCm38) |
I141K |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,588,129 (GRCm38) |
E537G |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,415,897 (GRCm38) |
A259V |
probably damaging |
Het |
| Bcar1 |
G |
A |
8: 111,720,920 (GRCm38) |
Q142* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,509,468 (GRCm38) |
V200A |
probably damaging |
Het |
| Cd302 |
A |
T |
2: 60,272,149 (GRCm38) |
I42N |
probably benign |
Het |
| Colec12 |
C |
A |
18: 9,848,984 (GRCm38) |
N387K |
probably damaging |
Het |
| Copa |
T |
A |
1: 172,119,321 (GRCm38) |
I1032N |
probably damaging |
Het |
| D630003M21Rik |
G |
C |
2: 158,196,139 (GRCm38) |
T1129S |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,194,485 (GRCm38) |
T916I |
possibly damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,503,992 (GRCm38) |
A241T |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,885,337 (GRCm38) |
N397K |
possibly damaging |
Het |
| Eftud2 |
T |
A |
11: 102,870,177 (GRCm38) |
Y114F |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,390,853 (GRCm38) |
D114G |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,048,900 (GRCm38) |
|
probably null |
Het |
| Fam135a |
G |
A |
1: 24,029,160 (GRCm38) |
T706I |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,811,295 (GRCm38) |
V1845A |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,596 (GRCm38) |
E255G |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,545,363 (GRCm38) |
Y311N |
probably damaging |
Het |
| Gm13757 |
A |
T |
2: 88,446,347 (GRCm38) |
M197K |
probably benign |
Het |
| Gm5724 |
A |
G |
6: 141,767,562 (GRCm38) |
V31A |
probably benign |
Het |
| Gm8765 |
C |
G |
13: 50,703,239 (GRCm38) |
P971R |
probably benign |
Het |
| Grid1 |
T |
C |
14: 34,822,622 (GRCm38) |
L50P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,475,933 (GRCm38) |
F331L |
probably damaging |
Het |
| Ikbkap |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm38) |
|
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,989,810 (GRCm38) |
D2525N |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,025,727 (GRCm38) |
Y1245C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,756,679 (GRCm38) |
F1022L |
probably damaging |
Het |
| Med16 |
G |
T |
10: 79,900,117 (GRCm38) |
T399N |
probably damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,645,506 (GRCm38) |
|
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,623,266 (GRCm38) |
V681I |
probably benign |
Het |
| Ndc1 |
A |
G |
4: 107,390,222 (GRCm38) |
E409G |
probably benign |
Het |
| Necap2 |
A |
G |
4: 141,071,601 (GRCm38) |
|
probably benign |
Het |
| Olfr47 |
T |
A |
6: 43,235,695 (GRCm38) |
L29H |
probably damaging |
Het |
| Olfr847 |
C |
T |
9: 19,375,545 (GRCm38) |
S112N |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,117,810 (GRCm38) |
T117I |
probably benign |
Het |
| Pars2 |
C |
A |
4: 106,654,210 (GRCm38) |
C396* |
probably null |
Het |
| Prkg2 |
G |
A |
5: 98,966,633 (GRCm38) |
T523I |
probably damaging |
Het |
| Prph |
T |
A |
15: 99,057,427 (GRCm38) |
L425Q |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,414,076 (GRCm38) |
Y549H |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 156,095,569 (GRCm38) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,344,185 (GRCm38) |
Y75C |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 16,940,407 (GRCm38) |
R110H |
probably damaging |
Het |
| Samd1 |
G |
A |
8: 83,999,717 (GRCm38) |
E468K |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,249,465 (GRCm38) |
Q173L |
probably damaging |
Het |
| Scgb2b20 |
C |
A |
7: 33,365,726 (GRCm38) |
G37V |
probably damaging |
Het |
| Sf1 |
C |
A |
19: 6,375,664 (GRCm38) |
|
probably benign |
Het |
| Slc17a5 |
T |
A |
9: 78,574,715 (GRCm38) |
H183L |
probably damaging |
Het |
| Smgc |
T |
A |
15: 91,841,454 (GRCm38) |
S13T |
probably benign |
Het |
| Snapin |
A |
G |
3: 90,490,785 (GRCm38) |
|
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,943,745 (GRCm38) |
P1033S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,650,171 (GRCm38) |
E259G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,196,836 (GRCm38) |
F238L |
possibly damaging |
Het |
| Tbck |
G |
A |
3: 132,686,968 (GRCm38) |
V57M |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 130,041,955 (GRCm38) |
D511G |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,973,896 (GRCm38) |
V241A |
probably benign |
Het |
| Tmem181c-ps |
A |
G |
17: 6,620,355 (GRCm38) |
|
noncoding transcript |
Het |
| Tnfrsf1a |
G |
A |
6: 125,358,084 (GRCm38) |
C168Y |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,182,770 (GRCm38) |
L79I |
possibly damaging |
Het |
| Tsc1 |
G |
A |
2: 28,661,690 (GRCm38) |
|
probably null |
Het |
| Ttc14 |
A |
T |
3: 33,803,149 (GRCm38) |
M215L |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,597,085 (GRCm38) |
N120S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 46,930,445 (GRCm38) |
W1728R |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,900,704 (GRCm38) |
T318A |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,258,649 (GRCm38) |
V941A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,943,943 (GRCm38) |
V510A |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,862,844 (GRCm38) |
V272E |
possibly damaging |
Het |
| Xylt1 |
A |
C |
7: 117,637,635 (GRCm38) |
D537A |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,010,130 (GRCm38) |
N292S |
possibly damaging |
Het |
|
| Other mutations in Prg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Prg4
|
APN |
1 |
150,451,920 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02033:Prg4
|
APN |
1 |
150,455,868 (GRCm38) |
intron |
probably benign |
|
|
IGL02154:Prg4
|
APN |
1 |
150,454,862 (GRCm38) |
intron |
probably benign |
|
|
IGL03111:Prg4
|
APN |
1 |
150,451,902 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL03177:Prg4
|
APN |
1 |
150,455,603 (GRCm38) |
intron |
probably benign |
|
|
IGL03260:Prg4
|
APN |
1 |
150,455,627 (GRCm38) |
intron |
probably benign |
|
|
IGL03281:Prg4
|
APN |
1 |
150,450,088 (GRCm38) |
splice site |
probably benign |
|
|
R0046:Prg4
|
UTSW |
1 |
150,456,086 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0046:Prg4
|
UTSW |
1 |
150,456,086 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0196:Prg4
|
UTSW |
1 |
150,454,492 (GRCm38) |
intron |
probably benign |
|
|
R0233:Prg4
|
UTSW |
1 |
150,453,547 (GRCm38) |
splice site |
probably benign |
|
|
R0255:Prg4
|
UTSW |
1 |
150,455,807 (GRCm38) |
intron |
probably benign |
|
|
R0616:Prg4
|
UTSW |
1 |
150,460,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1016:Prg4
|
UTSW |
1 |
150,454,691 (GRCm38) |
intron |
probably benign |
|
|
R1826:Prg4
|
UTSW |
1 |
150,452,009 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1862:Prg4
|
UTSW |
1 |
150,460,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1863:Prg4
|
UTSW |
1 |
150,460,669 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1922:Prg4
|
UTSW |
1 |
150,449,999 (GRCm38) |
nonsense |
probably null |
|
|
R1940:Prg4
|
UTSW |
1 |
150,456,023 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R3765:Prg4
|
UTSW |
1 |
150,451,371 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3855:Prg4
|
UTSW |
1 |
150,452,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3894:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R3895:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R3912:Prg4
|
UTSW |
1 |
150,451,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3935:Prg4
|
UTSW |
1 |
150,458,157 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4050:Prg4
|
UTSW |
1 |
150,454,759 (GRCm38) |
intron |
probably benign |
|
|
R4475:Prg4
|
UTSW |
1 |
150,454,859 (GRCm38) |
intron |
probably benign |
|
|
R4910:Prg4
|
UTSW |
1 |
150,455,823 (GRCm38) |
intron |
probably benign |
|
|
R4911:Prg4
|
UTSW |
1 |
150,455,823 (GRCm38) |
intron |
probably benign |
|
|
R4993:Prg4
|
UTSW |
1 |
150,460,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5378:Prg4
|
UTSW |
1 |
150,455,226 (GRCm38) |
intron |
probably benign |
|
|
R5381:Prg4
|
UTSW |
1 |
150,454,453 (GRCm38) |
intron |
probably benign |
|
|
R5452:Prg4
|
UTSW |
1 |
150,455,768 (GRCm38) |
intron |
probably benign |
|
|
R5870:Prg4
|
UTSW |
1 |
150,455,549 (GRCm38) |
nonsense |
probably null |
|
|
R5888:Prg4
|
UTSW |
1 |
150,452,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5929:Prg4
|
UTSW |
1 |
150,454,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6058:Prg4
|
UTSW |
1 |
150,451,446 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6059:Prg4
|
UTSW |
1 |
150,449,997 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6232:Prg4
|
UTSW |
1 |
150,455,816 (GRCm38) |
intron |
probably benign |
|
|
R6272:Prg4
|
UTSW |
1 |
150,454,766 (GRCm38) |
intron |
probably benign |
|
|
R6459:Prg4
|
UTSW |
1 |
150,454,301 (GRCm38) |
intron |
probably benign |
|
|
R6659:Prg4
|
UTSW |
1 |
150,460,681 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6663:Prg4
|
UTSW |
1 |
150,455,101 (GRCm38) |
intron |
probably benign |
|
|
R6882:Prg4
|
UTSW |
1 |
150,453,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6970:Prg4
|
UTSW |
1 |
150,455,906 (GRCm38) |
intron |
probably benign |
|
|
R7078:Prg4
|
UTSW |
1 |
150,458,263 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7102:Prg4
|
UTSW |
1 |
150,452,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7264:Prg4
|
UTSW |
1 |
150,454,067 (GRCm38) |
missense |
not run |
|
|
R7487:Prg4
|
UTSW |
1 |
150,455,905 (GRCm38) |
missense |
unknown |
|
|
R7531:Prg4
|
UTSW |
1 |
150,455,035 (GRCm38) |
missense |
unknown |
|
|
R7651:Prg4
|
UTSW |
1 |
150,454,945 (GRCm38) |
missense |
unknown |
|
|
R7701:Prg4
|
UTSW |
1 |
150,457,542 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8072:Prg4
|
UTSW |
1 |
150,456,023 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8168:Prg4
|
UTSW |
1 |
150,455,850 (GRCm38) |
missense |
unknown |
|
|
R8248:Prg4
|
UTSW |
1 |
150,455,126 (GRCm38) |
missense |
unknown |
|
|
R8436:Prg4
|
UTSW |
1 |
150,455,567 (GRCm38) |
missense |
unknown |
|
|
R8460:Prg4
|
UTSW |
1 |
150,455,941 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8514:Prg4
|
UTSW |
1 |
150,454,645 (GRCm38) |
missense |
unknown |
|
|
R8904:Prg4
|
UTSW |
1 |
150,456,059 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9072:Prg4
|
UTSW |
1 |
150,455,537 (GRCm38) |
missense |
unknown |
|
|
R9073:Prg4
|
UTSW |
1 |
150,455,537 (GRCm38) |
missense |
unknown |
|
|
R9274:Prg4
|
UTSW |
1 |
150,456,173 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9337:Prg4
|
UTSW |
1 |
150,451,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9488:Prg4
|
UTSW |
1 |
150,451,273 (GRCm38) |
missense |
probably benign |
|
|
R9613:Prg4
|
UTSW |
1 |
150,455,909 (GRCm38) |
missense |
unknown |
|
|
R9670:Prg4
|
UTSW |
1 |
150,450,867 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0024:Prg4
|
UTSW |
1 |
150,454,492 (GRCm38) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGTTGCTGAAGTCGTC -3'
(R):5'- TCCCAAGGAGCCTGAACCTA -3'
Sequencing Primer
(F):5'- CTGAAGTCGTCTTTAGAGGAGATG -3'
(R):5'- GGAGCCTGAACCTACAACC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation