Incidental Mutation 'R9174:Impg1'
| ID |
696584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
068977-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80252750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 477
(T477A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085289]
[ENSMUST00000113250]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085289
AA Change: T400A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: T400A
| 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 damaging
Transcript: ENSMUST00000113250
AA Change: T477A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: T477A
| 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 |
|
| Meta Mutation Damage Score |
0.3933 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (33/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap1 |
A |
G |
11: 88,725,991 (GRCm39) |
Y737H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,606 (GRCm39) |
V610E |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,433 (GRCm39) |
T158I |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,220,032 (GRCm39) |
K90R |
probably benign |
Het |
| Cfap70 |
C |
A |
14: 20,493,706 (GRCm39) |
G132W |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,279,032 (GRCm39) |
D475E |
probably damaging |
Het |
| Dapp1 |
T |
C |
3: 137,638,916 (GRCm39) |
D270G |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,076 (GRCm39) |
Y108* |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,662,705 (GRCm39) |
|
probably null |
Het |
| Fes |
C |
A |
7: 80,030,631 (GRCm39) |
V555F |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,642,797 (GRCm39) |
I823L |
possibly damaging |
Het |
| H2-M9 |
A |
C |
17: 36,953,181 (GRCm39) |
L42R |
probably damaging |
Het |
| Ifitm2 |
A |
T |
7: 140,535,013 (GRCm39) |
I107N |
probably damaging |
Het |
| Inca1 |
G |
A |
11: 70,580,732 (GRCm39) |
P78S |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,085,819 (GRCm39) |
E126G |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Mars1 |
A |
T |
10: 127,135,237 (GRCm39) |
I618N |
probably damaging |
Het |
| Mgl2 |
C |
A |
11: 70,026,606 (GRCm39) |
F110L |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,689 (GRCm39) |
D339G |
probably damaging |
Het |
| Pfdn2 |
G |
C |
1: 171,184,164 (GRCm39) |
E48Q |
probably damaging |
Het |
| Pilra |
A |
G |
5: 137,833,898 (GRCm39) |
I56T |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,535,746 (GRCm39) |
N410K |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,868,039 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,295,893 (GRCm39) |
E1052G |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,791,269 (GRCm39) |
C495R |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,284,289 (GRCm39) |
H339Q |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,767,987 (GRCm39) |
D1411G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,460,416 (GRCm39) |
I2559N |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,305,885 (GRCm39) |
S103T |
possibly damaging |
Het |
| Vrk1 |
G |
A |
12: 106,002,811 (GRCm39) |
R3H |
probably benign |
Het |
| Wdr46 |
G |
T |
17: 34,167,668 (GRCm39) |
R493L |
possibly damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,254,125 (GRCm39) |
D123G |
probably damaging |
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 |
|
|
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'- ATGGGTGTGGTCATCTCCAAG -3'
(R):5'- CTCGTTTGGGTGGAAATAATTGGAC -3'
Sequencing Primer
(F):5'- GTGTGGTCATCTCCAAGAACTGAC -3'
(R):5'- CATAAAATGGCATCAGGAATGTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation