Incidental Mutation 'R3935:Prg4'
| ID |
307116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prg4
|
| Ensembl Gene |
ENSMUSG00000006014 |
| Gene Name |
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein) |
| Synonyms |
MSF, SZP, lubricin, DOL54 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
150325163-150341916 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150333908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 152
(I152T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128943
(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 |
possibly damaging
Transcript: ENSMUST00000111902
AA Change: I111T
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107533
Gene: ENSMUSG00000006014
AA Change: I111T
| 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 |
possibly damaging
Transcript: ENSMUST00000161611
AA Change: I152T
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125677
Gene: ENSMUSG00000006014
AA Change: I152T
| 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 |
possibly damaging
Transcript: ENSMUST00000164600
AA Change: I152T
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128943
Gene: ENSMUSG00000006014
AA Change: I152T
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
probably damaging |
Het |
|
| Other mutations in Prg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Prg4
|
APN |
1 |
150,327,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02033:Prg4
|
APN |
1 |
150,331,619 (GRCm39) |
intron |
probably benign |
|
|
IGL02154:Prg4
|
APN |
1 |
150,330,613 (GRCm39) |
intron |
probably benign |
|
|
IGL03111:Prg4
|
APN |
1 |
150,327,653 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03177:Prg4
|
APN |
1 |
150,331,354 (GRCm39) |
intron |
probably benign |
|
|
IGL03260:Prg4
|
APN |
1 |
150,331,378 (GRCm39) |
intron |
probably benign |
|
|
IGL03281:Prg4
|
APN |
1 |
150,325,839 (GRCm39) |
splice site |
probably benign |
|
|
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0046:Prg4
|
UTSW |
1 |
150,331,837 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0196:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
|
R0233:Prg4
|
UTSW |
1 |
150,329,298 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Prg4
|
UTSW |
1 |
150,331,558 (GRCm39) |
intron |
probably benign |
|
|
R0616:Prg4
|
UTSW |
1 |
150,336,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1016:Prg4
|
UTSW |
1 |
150,330,442 (GRCm39) |
intron |
probably benign |
|
|
R1826:Prg4
|
UTSW |
1 |
150,327,760 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1862:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1863:Prg4
|
UTSW |
1 |
150,336,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1922:Prg4
|
UTSW |
1 |
150,325,750 (GRCm39) |
nonsense |
probably null |
|
|
R1940:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3765:Prg4
|
UTSW |
1 |
150,327,122 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3855:Prg4
|
UTSW |
1 |
150,327,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R3895:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R3912:Prg4
|
UTSW |
1 |
150,327,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Prg4
|
UTSW |
1 |
150,330,510 (GRCm39) |
intron |
probably benign |
|
|
R4475:Prg4
|
UTSW |
1 |
150,330,610 (GRCm39) |
intron |
probably benign |
|
|
R4794:Prg4
|
UTSW |
1 |
150,330,297 (GRCm39) |
intron |
probably benign |
|
|
R4910:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
|
R4911:Prg4
|
UTSW |
1 |
150,331,574 (GRCm39) |
intron |
probably benign |
|
|
R4993:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Prg4
|
UTSW |
1 |
150,330,977 (GRCm39) |
intron |
probably benign |
|
|
R5381:Prg4
|
UTSW |
1 |
150,330,204 (GRCm39) |
intron |
probably benign |
|
|
R5452:Prg4
|
UTSW |
1 |
150,331,519 (GRCm39) |
intron |
probably benign |
|
|
R5870:Prg4
|
UTSW |
1 |
150,331,300 (GRCm39) |
nonsense |
probably null |
|
|
R5888:Prg4
|
UTSW |
1 |
150,328,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Prg4
|
UTSW |
1 |
150,329,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6058:Prg4
|
UTSW |
1 |
150,327,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6059:Prg4
|
UTSW |
1 |
150,325,748 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6232:Prg4
|
UTSW |
1 |
150,331,567 (GRCm39) |
intron |
probably benign |
|
|
R6272:Prg4
|
UTSW |
1 |
150,330,517 (GRCm39) |
intron |
probably benign |
|
|
R6459:Prg4
|
UTSW |
1 |
150,330,052 (GRCm39) |
intron |
probably benign |
|
|
R6659:Prg4
|
UTSW |
1 |
150,336,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Prg4
|
UTSW |
1 |
150,330,852 (GRCm39) |
intron |
probably benign |
|
|
R6882:Prg4
|
UTSW |
1 |
150,329,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Prg4
|
UTSW |
1 |
150,331,657 (GRCm39) |
intron |
probably benign |
|
|
R7078:Prg4
|
UTSW |
1 |
150,334,014 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7102:Prg4
|
UTSW |
1 |
150,328,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Prg4
|
UTSW |
1 |
150,329,818 (GRCm39) |
missense |
not run |
|
|
R7487:Prg4
|
UTSW |
1 |
150,331,656 (GRCm39) |
missense |
unknown |
|
|
R7531:Prg4
|
UTSW |
1 |
150,330,786 (GRCm39) |
missense |
unknown |
|
|
R7651:Prg4
|
UTSW |
1 |
150,330,696 (GRCm39) |
missense |
unknown |
|
|
R7701:Prg4
|
UTSW |
1 |
150,333,293 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8072:Prg4
|
UTSW |
1 |
150,331,774 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8168:Prg4
|
UTSW |
1 |
150,331,601 (GRCm39) |
missense |
unknown |
|
|
R8248:Prg4
|
UTSW |
1 |
150,330,877 (GRCm39) |
missense |
unknown |
|
|
R8436:Prg4
|
UTSW |
1 |
150,331,318 (GRCm39) |
missense |
unknown |
|
|
R8460:Prg4
|
UTSW |
1 |
150,331,692 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8514:Prg4
|
UTSW |
1 |
150,330,396 (GRCm39) |
missense |
unknown |
|
|
R8904:Prg4
|
UTSW |
1 |
150,331,810 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9072:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
|
R9073:Prg4
|
UTSW |
1 |
150,331,288 (GRCm39) |
missense |
unknown |
|
|
R9274:Prg4
|
UTSW |
1 |
150,331,924 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9337:Prg4
|
UTSW |
1 |
150,327,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Prg4
|
UTSW |
1 |
150,327,024 (GRCm39) |
missense |
probably benign |
|
|
R9613:Prg4
|
UTSW |
1 |
150,331,660 (GRCm39) |
missense |
unknown |
|
|
R9670:Prg4
|
UTSW |
1 |
150,326,618 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Prg4
|
UTSW |
1 |
150,330,243 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTGGGTTTGGTAAATAAGGTC -3'
(R):5'- AGTTAGCACTGCTGATGAACC -3'
Sequencing Primer
(F):5'- TCCCAAGGATTTATATTTTGGCTTAG -3'
(R):5'- GCACTGCTGATGAACCTAAATTGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation