Incidental Mutation 'R4592:Impg1'
ID |
342909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg1
|
Ensembl Gene |
ENSMUSG00000032343 |
Gene Name |
interphotoreceptor matrix proteoglycan 1 |
Synonyms |
SPACR, A930015H12Rik, IMP150 |
MMRRC Submission |
041808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4592 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80322907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 33
(I33F)
|
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: I33F
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108876 Gene: ENSMUSG00000032343 AA Change: I33F
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
Clcn2 |
T |
C |
16: 20,527,892 (GRCm39) |
K525E |
probably damaging |
Het |
Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
Crat |
T |
C |
2: 30,305,378 (GRCm39) |
|
probably benign |
Het |
Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
Eif4g2 |
T |
C |
7: 110,677,509 (GRCm39) |
E174G |
probably damaging |
Het |
Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
Tmf1 |
C |
T |
6: 97,150,361 (GRCm39) |
V449I |
probably benign |
Het |
Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
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 |
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 |
R9584:Impg1
|
UTSW |
9 |
80,322,849 (GRCm39) |
missense |
probably benign |
0.14 |
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'- GCTAAAATCTGTCTCAAGGATTCCTG -3'
(R):5'- TTGGCAGTTCCTAAGGTGAG -3'
Sequencing Primer
(F):5'- CTCAAGGATTCCTGTGGACAG -3'
(R):5'- CAGTTCCTAAGGTGAGGTAATTTG -3'
|
Posted On |
2015-09-24 |