Incidental Mutation 'R6663:Prg4'
| ID |
526861 |
| 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 |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
150449412-150466165 bp(-) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 150455101 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006171]
[ENSMUST00000111901]
[ENSMUST00000111902]
[ENSMUST00000159035]
[ENSMUST00000161320]
[ENSMUST00000161611]
[ENSMUST00000162367]
[ENSMUST00000164600]
|
| 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 |
probably benign
Transcript: ENSMUST00000111901
|
| SMART Domains |
Protein: ENSMUSP00000107532
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 |
|
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 |
probably benign
Transcript: ENSMUST00000111902
|
| SMART Domains |
Protein: ENSMUSP00000107533
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
|
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: 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 |
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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161611
AA Change: T607I
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: T607I
| 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 |
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 |
unknown
Transcript: ENSMUST00000164600
AA Change: T607I
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: T607I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,264,064 |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,279,083 |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,703,245 |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,820,059 |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,999,593 |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,675,740 |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,485,847 |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,579,442 |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,403,184 |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,685,692 |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,528 |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,629,129 |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 114,974,105 |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 33,881,456 |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,361,361 |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,664,116 |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,430,022 |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,575,083 |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,581,875 |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 35,589,118 |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,947,935 |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,611,938 |
R164S |
probably benign |
Het |
| Olfr1181 |
T |
A |
2: 88,423,350 |
N225I |
probably benign |
Het |
| Phf10 |
T |
C |
17: 14,959,512 |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,577,290 |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,343,696 |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 38,954,136 |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,834,028 |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,867,769 |
R212C |
probably damaging |
Het |
| Zufsp |
A |
G |
10: 33,949,435 |
M17T |
possibly damaging |
Het |
|
| Other mutations in Prg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Prg4
|
APN |
1 |
150451920 |
missense |
probably damaging |
0.99 |
|
IGL02033:Prg4
|
APN |
1 |
150455868 |
intron |
probably benign |
|
|
IGL02154:Prg4
|
APN |
1 |
150454862 |
intron |
probably benign |
|
|
IGL03111:Prg4
|
APN |
1 |
150451902 |
missense |
probably benign |
0.06 |
|
IGL03177:Prg4
|
APN |
1 |
150455603 |
intron |
probably benign |
|
|
IGL03260:Prg4
|
APN |
1 |
150455627 |
intron |
probably benign |
|
|
IGL03281:Prg4
|
APN |
1 |
150450088 |
splice site |
probably benign |
|
|
R0046:Prg4
|
UTSW |
1 |
150456086 |
missense |
possibly damaging |
0.53 |
|
R0046:Prg4
|
UTSW |
1 |
150456086 |
missense |
possibly damaging |
0.53 |
|
R0196:Prg4
|
UTSW |
1 |
150454492 |
intron |
probably benign |
|
|
R0233:Prg4
|
UTSW |
1 |
150453547 |
splice site |
probably benign |
|
|
R0255:Prg4
|
UTSW |
1 |
150455807 |
intron |
probably benign |
|
|
R0616:Prg4
|
UTSW |
1 |
150460711 |
missense |
probably damaging |
1.00 |
|
R1016:Prg4
|
UTSW |
1 |
150454691 |
intron |
probably benign |
|
|
R1826:Prg4
|
UTSW |
1 |
150452009 |
missense |
probably benign |
0.09 |
|
R1862:Prg4
|
UTSW |
1 |
150460669 |
missense |
probably damaging |
0.99 |
|
R1863:Prg4
|
UTSW |
1 |
150460669 |
missense |
probably damaging |
0.99 |
|
R1922:Prg4
|
UTSW |
1 |
150449999 |
nonsense |
probably null |
|
|
R1940:Prg4
|
UTSW |
1 |
150456023 |
missense |
possibly damaging |
0.53 |
|
R3765:Prg4
|
UTSW |
1 |
150451371 |
missense |
probably damaging |
0.97 |
|
R3855:Prg4
|
UTSW |
1 |
150452000 |
missense |
probably damaging |
1.00 |
|
R3894:Prg4
|
UTSW |
1 |
150454759 |
intron |
probably benign |
|
|
R3895:Prg4
|
UTSW |
1 |
150454759 |
intron |
probably benign |
|
|
R3912:Prg4
|
UTSW |
1 |
150451868 |
missense |
probably damaging |
1.00 |
|
R3935:Prg4
|
UTSW |
1 |
150458157 |
missense |
possibly damaging |
0.68 |
|
R4050:Prg4
|
UTSW |
1 |
150454759 |
intron |
probably benign |
|
|
R4475:Prg4
|
UTSW |
1 |
150454859 |
intron |
probably benign |
|
|
R4794:Prg4
|
UTSW |
1 |
150454546 |
intron |
probably benign |
|
|
R4910:Prg4
|
UTSW |
1 |
150455823 |
intron |
probably benign |
|
|
R4911:Prg4
|
UTSW |
1 |
150455823 |
intron |
probably benign |
|
|
R4993:Prg4
|
UTSW |
1 |
150460681 |
missense |
probably damaging |
1.00 |
|
R5378:Prg4
|
UTSW |
1 |
150455226 |
intron |
probably benign |
|
|
R5381:Prg4
|
UTSW |
1 |
150454453 |
intron |
probably benign |
|
|
R5452:Prg4
|
UTSW |
1 |
150455768 |
intron |
probably benign |
|
|
R5870:Prg4
|
UTSW |
1 |
150455549 |
nonsense |
probably null |
|
|
R5888:Prg4
|
UTSW |
1 |
150452350 |
missense |
probably damaging |
1.00 |
|
R5929:Prg4
|
UTSW |
1 |
150454129 |
missense |
probably benign |
0.01 |
|
R6058:Prg4
|
UTSW |
1 |
150451446 |
missense |
probably damaging |
0.99 |
|
R6059:Prg4
|
UTSW |
1 |
150449997 |
missense |
possibly damaging |
0.67 |
|
R6232:Prg4
|
UTSW |
1 |
150455816 |
intron |
probably benign |
|
|
R6272:Prg4
|
UTSW |
1 |
150454766 |
intron |
probably benign |
|
|
R6459:Prg4
|
UTSW |
1 |
150454301 |
intron |
probably benign |
|
|
R6659:Prg4
|
UTSW |
1 |
150460681 |
missense |
probably damaging |
1.00 |
|
R6882:Prg4
|
UTSW |
1 |
150453495 |
missense |
probably damaging |
1.00 |
|
R6970:Prg4
|
UTSW |
1 |
150455906 |
intron |
probably benign |
|
|
R7078:Prg4
|
UTSW |
1 |
150458263 |
missense |
possibly damaging |
0.91 |
|
R7102:Prg4
|
UTSW |
1 |
150452254 |
missense |
probably damaging |
1.00 |
|
R7264:Prg4
|
UTSW |
1 |
150454067 |
missense |
not run |
|
|
R7487:Prg4
|
UTSW |
1 |
150455905 |
missense |
unknown |
|
|
R7531:Prg4
|
UTSW |
1 |
150455035 |
missense |
unknown |
|
|
R7651:Prg4
|
UTSW |
1 |
150454945 |
missense |
unknown |
|
|
R7701:Prg4
|
UTSW |
1 |
150457542 |
missense |
possibly damaging |
0.53 |
|
R8072:Prg4
|
UTSW |
1 |
150456023 |
missense |
possibly damaging |
0.53 |
|
R8168:Prg4
|
UTSW |
1 |
150455850 |
missense |
unknown |
|
|
R8248:Prg4
|
UTSW |
1 |
150455126 |
missense |
unknown |
|
|
R8436:Prg4
|
UTSW |
1 |
150455567 |
missense |
unknown |
|
|
R8460:Prg4
|
UTSW |
1 |
150455941 |
missense |
possibly damaging |
0.83 |
|
R8514:Prg4
|
UTSW |
1 |
150454645 |
missense |
unknown |
|
|
R8904:Prg4
|
UTSW |
1 |
150456059 |
missense |
possibly damaging |
0.83 |
|
R9072:Prg4
|
UTSW |
1 |
150455537 |
missense |
unknown |
|
|
R9073:Prg4
|
UTSW |
1 |
150455537 |
missense |
unknown |
|
|
R9274:Prg4
|
UTSW |
1 |
150456173 |
missense |
possibly damaging |
0.53 |
|
R9337:Prg4
|
UTSW |
1 |
150451365 |
missense |
probably damaging |
1.00 |
|
R9488:Prg4
|
UTSW |
1 |
150451273 |
missense |
probably benign |
|
|
R9613:Prg4
|
UTSW |
1 |
150455909 |
missense |
unknown |
|
|
R9670:Prg4
|
UTSW |
1 |
150450867 |
missense |
probably benign |
0.01 |
|
X0024:Prg4
|
UTSW |
1 |
150454492 |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGTGGGTTCAGGCTCCT -3'
(R):5'- TCCCAAGGAGCCTGAACC -3'
Sequencing Primer
(F):5'- CTCCTTGGGAGTTGTGGGTTCAG -3'
(R):5'- TCCCAAGGAGCCTGAACC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation