Incidental Mutation 'R9584:Impg1'
| ID |
722705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9584 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80322849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 52
(H52R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085289]
[ENSMUST00000113250]
[ENSMUST00000185068]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085289
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SEA
|
158 |
273 |
8.68e-1 |
SMART |
|
low complexity region
|
353 |
374 |
N/A |
INTRINSIC |
|
SEA
|
494 |
616 |
1.37e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113250
AA Change: H52R
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: H52R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SEA
|
235 |
350 |
8.68e-1 |
SMART |
|
low complexity region
|
430 |
451 |
N/A |
INTRINSIC |
|
SEA
|
571 |
693 |
1.37e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185068
|
| SMART Domains |
Protein: ENSMUSP00000139151
Gene: ENSMUSG00000032343
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
157 |
216 |
1.2e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
G |
13: 70,949,136 (GRCm39) |
D175A |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,798,504 (GRCm39) |
N635Y |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,667 (GRCm39) |
V803A |
possibly damaging |
Het |
| Brsk1 |
T |
A |
7: 4,709,662 (GRCm39) |
S430T |
possibly damaging |
Het |
| Btbd8 |
A |
T |
5: 107,658,347 (GRCm39) |
H1639L |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,277,404 (GRCm39) |
L46P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 148,985,704 (GRCm39) |
|
probably benign |
Het |
| Catsper2 |
A |
T |
2: 121,230,301 (GRCm39) |
N344K |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,915,675 (GRCm39) |
S144G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,992,095 (GRCm39) |
L451F |
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,672 (GRCm39) |
F143L |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,861,481 (GRCm39) |
R1379* |
probably null |
Het |
| Dop1a |
C |
A |
9: 86,385,151 (GRCm39) |
L366I |
possibly damaging |
Het |
| Foxg1 |
G |
A |
12: 49,432,406 (GRCm39) |
V380M |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hipk3 |
A |
G |
2: 104,301,910 (GRCm39) |
V94A |
probably benign |
Het |
| Kcnv2 |
T |
C |
19: 27,300,265 (GRCm39) |
S39P |
probably damaging |
Het |
| Knop1 |
G |
A |
7: 118,447,709 (GRCm39) |
S417L |
unknown |
Het |
| Muc1 |
C |
T |
3: 89,138,373 (GRCm39) |
T405I |
probably benign |
Het |
| Nlrp2 |
C |
A |
7: 5,322,215 (GRCm39) |
D811Y |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,958,431 (GRCm39) |
L206S |
probably benign |
Het |
| Or5ac19 |
A |
G |
16: 59,089,580 (GRCm39) |
L150S |
probably benign |
Het |
| Or8g17 |
G |
A |
9: 38,930,462 (GRCm39) |
A125V |
probably damaging |
Het |
| Orai3 |
G |
T |
7: 127,373,177 (GRCm39) |
R226L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,322,622 (GRCm39) |
M99V |
probably benign |
Het |
| Pag1 |
A |
G |
3: 9,761,214 (GRCm39) |
S298P |
probably damaging |
Het |
| Pde4c |
T |
C |
8: 71,200,728 (GRCm39) |
V419A |
probably benign |
Het |
| Pitpna |
C |
A |
11: 75,510,368 (GRCm39) |
N208K |
probably benign |
Het |
| Pnpo |
C |
A |
11: 96,831,705 (GRCm39) |
E114* |
probably null |
Het |
| Pou5f2 |
A |
G |
13: 78,173,592 (GRCm39) |
E178G |
possibly damaging |
Het |
| Psph |
G |
A |
5: 129,847,752 (GRCm39) |
R65C |
probably damaging |
Het |
| Sgsh |
T |
C |
11: 119,241,789 (GRCm39) |
S106G |
possibly damaging |
Het |
| Synrg |
A |
G |
11: 83,900,200 (GRCm39) |
K724R |
probably damaging |
Het |
| Tet1 |
A |
T |
10: 62,655,306 (GRCm39) |
F1538L |
probably damaging |
Het |
| Thada |
G |
A |
17: 84,733,605 (GRCm39) |
T1014I |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,219,242 (GRCm39) |
W1165R |
probably damaging |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,089 (GRCm39) |
H440Y |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,394,549 (GRCm39) |
D1550G |
probably benign |
Het |
|
| Other mutations in Impg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Impg1
|
APN |
9 |
80,230,111 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01733:Impg1
|
APN |
9 |
80,249,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02333:Impg1
|
APN |
9 |
80,322,808 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03097:Impg1
|
UTSW |
9 |
80,287,234 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0021:Impg1
|
UTSW |
9 |
80,317,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Impg1
|
UTSW |
9 |
80,305,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Impg1
|
UTSW |
9 |
80,305,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Impg1
|
UTSW |
9 |
80,230,130 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0201:Impg1
|
UTSW |
9 |
80,252,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0271:Impg1
|
UTSW |
9 |
80,294,161 (GRCm39) |
splice site |
probably benign |
|
|
R0316:Impg1
|
UTSW |
9 |
80,249,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Impg1
|
UTSW |
9 |
80,252,590 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0633:Impg1
|
UTSW |
9 |
80,301,437 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0705:Impg1
|
UTSW |
9 |
80,287,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Impg1
|
UTSW |
9 |
80,289,023 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1264:Impg1
|
UTSW |
9 |
80,221,675 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1707:Impg1
|
UTSW |
9 |
80,285,799 (GRCm39) |
splice site |
probably null |
|
|
R2017:Impg1
|
UTSW |
9 |
80,322,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3904:Impg1
|
UTSW |
9 |
80,252,867 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3960:Impg1
|
UTSW |
9 |
80,322,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Impg1
|
UTSW |
9 |
80,252,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Impg1
|
UTSW |
9 |
80,252,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Impg1
|
UTSW |
9 |
80,252,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Impg1
|
UTSW |
9 |
80,252,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Impg1
|
UTSW |
9 |
80,301,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Impg1
|
UTSW |
9 |
80,322,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4701:Impg1
|
UTSW |
9 |
80,221,682 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4785:Impg1
|
UTSW |
9 |
80,305,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4796:Impg1
|
UTSW |
9 |
80,301,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Impg1
|
UTSW |
9 |
80,252,827 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4923:Impg1
|
UTSW |
9 |
80,252,360 (GRCm39) |
nonsense |
probably null |
|
|
R5468:Impg1
|
UTSW |
9 |
80,347,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5596:Impg1
|
UTSW |
9 |
80,252,500 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6001:Impg1
|
UTSW |
9 |
80,223,454 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6156:Impg1
|
UTSW |
9 |
80,230,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Impg1
|
UTSW |
9 |
80,301,356 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6419:Impg1
|
UTSW |
9 |
80,287,300 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6880:Impg1
|
UTSW |
9 |
80,312,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7013:Impg1
|
UTSW |
9 |
80,285,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Impg1
|
UTSW |
9 |
80,312,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Impg1
|
UTSW |
9 |
80,301,474 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9034:Impg1
|
UTSW |
9 |
80,347,351 (GRCm39) |
start gained |
probably benign |
|
|
R9174:Impg1
|
UTSW |
9 |
80,252,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9242:Impg1
|
UTSW |
9 |
80,289,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Impg1
|
UTSW |
9 |
80,312,040 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9380:Impg1
|
UTSW |
9 |
80,289,077 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9594:Impg1
|
UTSW |
9 |
80,288,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Impg1
|
UTSW |
9 |
80,287,276 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9710:Impg1
|
UTSW |
9 |
80,287,276 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1176:Impg1
|
UTSW |
9 |
80,285,749 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCTGAAGATCATCTGTGG -3'
(R):5'- AGGGCTTGTTTATTTCACTATCCAC -3'
Sequencing Primer
(F):5'- CTGAAGATCATCTGTGGGTGTGTAG -3'
(R):5'- TTTCACTATCCACATAAGGCACATG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation