Incidental Mutation 'R4233:Impg1'
ID |
320971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg1
|
Ensembl Gene |
ENSMUSG00000032343 |
Gene Name |
interphotoreceptor matrix proteoglycan 1 |
Synonyms |
SPACR, A930015H12Rik, IMP150 |
MMRRC Submission |
041642-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R4233 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80252611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 523
(L523P)
|
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: L446P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082395 Gene: ENSMUSG00000032343 AA Change: L446P
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: L523P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108876 Gene: ENSMUSG00000032343 AA Change: L523P
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 |
0.2382 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (53/53) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
T |
5: 138,562,454 (GRCm39) |
Y96N |
probably damaging |
Het |
Abca15 |
C |
T |
7: 120,002,202 (GRCm39) |
Q1572* |
probably null |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Aph1c |
A |
G |
9: 66,740,603 (GRCm39) |
F41S |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Arhgef40 |
T |
C |
14: 52,227,628 (GRCm39) |
V458A |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,388,540 (GRCm39) |
T169A |
possibly damaging |
Het |
Cfap58 |
G |
A |
19: 47,963,994 (GRCm39) |
V541M |
possibly damaging |
Het |
Coro2b |
T |
C |
9: 62,333,467 (GRCm39) |
E376G |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,880,526 (GRCm39) |
T3865A |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,134,360 (GRCm39) |
E1549G |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 64,019,982 (GRCm39) |
|
probably benign |
Het |
Fbxo32 |
G |
T |
15: 58,055,729 (GRCm39) |
T135K |
possibly damaging |
Het |
Fhip2b |
A |
C |
14: 70,824,318 (GRCm39) |
V473G |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,862,235 (GRCm39) |
I2205F |
possibly damaging |
Het |
Gm12034 |
A |
G |
11: 20,396,785 (GRCm39) |
|
noncoding transcript |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Gm5108 |
C |
A |
5: 68,132,496 (GRCm39) |
T55K |
unknown |
Het |
Gpa33 |
A |
T |
1: 165,974,340 (GRCm39) |
D59V |
probably damaging |
Het |
Gpn2 |
T |
A |
4: 133,312,016 (GRCm39) |
Y83N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,528,453 (GRCm39) |
P460S |
possibly damaging |
Het |
Ifi203 |
A |
T |
1: 173,764,099 (GRCm39) |
S124R |
possibly damaging |
Het |
Ldlrap1 |
T |
A |
4: 134,484,649 (GRCm39) |
|
probably null |
Het |
Madd |
T |
C |
2: 91,008,581 (GRCm39) |
E107G |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,195 (GRCm39) |
V126A |
probably benign |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pam |
A |
T |
1: 97,792,119 (GRCm39) |
V434D |
possibly damaging |
Het |
Plxnd1 |
T |
C |
6: 115,942,914 (GRCm39) |
N1257D |
probably benign |
Het |
Prkdc |
C |
T |
16: 15,653,783 (GRCm39) |
A3870V |
probably benign |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,765,611 (GRCm39) |
D1375G |
probably benign |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slc13a2 |
A |
G |
11: 78,294,361 (GRCm39) |
|
probably benign |
Het |
Slc7a13 |
T |
C |
4: 19,819,070 (GRCm39) |
F90S |
probably damaging |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Stard13 |
A |
G |
5: 150,986,164 (GRCm39) |
S331P |
probably benign |
Het |
Sult2a8 |
T |
A |
7: 14,147,608 (GRCm39) |
I228L |
probably benign |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
Tshz1 |
C |
A |
18: 84,034,320 (GRCm39) |
E29D |
probably benign |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
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 |
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'- AATACCACTAGCTCCTGGCC -3'
(R):5'- CAGCCTCAATTTCCCGATCAG -3'
Sequencing Primer
(F):5'- CCCTTGGTGGCAATGGTCTC -3'
(R):5'- TTCCCGATCAGAAAATCTACCTTCG -3'
|
Posted On |
2015-06-12 |