Incidental Mutation 'R7013:Impg1'
ID |
545131 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Impg1
|
Ensembl Gene |
ENSMUSG00000032343 |
Gene Name |
interphotoreceptor matrix proteoglycan 1 |
Synonyms |
SPACR, A930015H12Rik, IMP150 |
MMRRC Submission |
045114-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R7013 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80285776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 409
(S409R)
|
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: S332R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082395 Gene: ENSMUSG00000032343 AA Change: S332R
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: S409R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108876 Gene: ENSMUSG00000032343 AA Change: S409R
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (47/47) |
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 |
A2m |
A |
G |
6: 121,618,345 (GRCm39) |
I213V |
probably null |
Het |
Abcc4 |
A |
T |
14: 118,763,755 (GRCm39) |
C952S |
probably benign |
Het |
Adhfe1 |
T |
C |
1: 9,620,816 (GRCm39) |
|
probably benign |
Het |
Apob |
T |
A |
12: 8,060,080 (GRCm39) |
L2854* |
probably null |
Het |
Arhgap5 |
T |
A |
12: 52,565,109 (GRCm39) |
N693K |
probably benign |
Het |
Arid5b |
A |
G |
10: 67,933,649 (GRCm39) |
V508A |
probably damaging |
Het |
Atl1 |
A |
G |
12: 70,000,214 (GRCm39) |
E288G |
probably damaging |
Het |
Bank1 |
A |
G |
3: 135,806,270 (GRCm39) |
S455P |
possibly damaging |
Het |
Ces1c |
A |
T |
8: 93,857,392 (GRCm39) |
L63Q |
probably damaging |
Het |
Crmp1 |
A |
T |
5: 37,426,036 (GRCm39) |
|
probably null |
Het |
Csnka2ip |
T |
C |
16: 64,298,780 (GRCm39) |
D528G |
unknown |
Het |
Dact2 |
T |
C |
17: 14,423,796 (GRCm39) |
T66A |
probably benign |
Het |
Dkk2 |
T |
C |
3: 131,880,760 (GRCm39) |
L135P |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,278,129 (GRCm39) |
N381S |
probably benign |
Het |
Dsg4 |
T |
C |
18: 20,591,578 (GRCm39) |
V439A |
possibly damaging |
Het |
Dysf |
C |
T |
6: 84,114,340 (GRCm39) |
P1240S |
probably damaging |
Het |
Esyt1 |
A |
T |
10: 128,361,520 (GRCm39) |
V58E |
probably damaging |
Het |
Exo1 |
G |
T |
1: 175,721,338 (GRCm39) |
A326S |
probably damaging |
Het |
Fam20b |
A |
G |
1: 156,518,135 (GRCm39) |
S220P |
probably damaging |
Het |
Fmo6 |
G |
A |
1: 162,745,817 (GRCm39) |
T402I |
probably benign |
Het |
Galnt10 |
A |
T |
11: 57,656,410 (GRCm39) |
D198V |
probably benign |
Het |
Gsap |
A |
T |
5: 21,483,108 (GRCm39) |
E604D |
probably benign |
Het |
Il20rb |
A |
G |
9: 100,343,481 (GRCm39) |
Y258H |
probably benign |
Het |
Jak3 |
G |
T |
8: 72,131,425 (GRCm39) |
V97F |
possibly damaging |
Het |
Lbhd1 |
T |
C |
19: 8,861,523 (GRCm39) |
S52P |
probably damaging |
Het |
Lman2l |
A |
G |
1: 36,482,599 (GRCm39) |
|
probably benign |
Het |
Lnpep |
C |
A |
17: 17,788,625 (GRCm39) |
M493I |
probably benign |
Het |
Mpp4 |
T |
C |
1: 59,188,774 (GRCm39) |
D132G |
probably damaging |
Het |
Nlrp1a |
G |
A |
11: 71,014,378 (GRCm39) |
R291W |
probably benign |
Het |
Or1e23 |
G |
T |
11: 73,407,247 (GRCm39) |
Y259* |
probably null |
Het |
Or4a79 |
T |
A |
2: 89,551,730 (GRCm39) |
I242F |
probably benign |
Het |
Or4b13 |
C |
T |
2: 90,082,441 (GRCm39) |
R297Q |
possibly damaging |
Het |
Or4f15 |
G |
A |
2: 111,814,308 (GRCm39) |
A37V |
probably benign |
Het |
Or4n4b |
T |
A |
14: 50,536,656 (GRCm39) |
I37F |
probably damaging |
Het |
Orc5 |
A |
G |
5: 22,738,787 (GRCm39) |
V158A |
probably benign |
Het |
Pate8 |
C |
A |
9: 36,493,854 (GRCm39) |
W26C |
unknown |
Het |
Pcdhga3 |
A |
G |
18: 37,808,674 (GRCm39) |
N376D |
probably damaging |
Het |
Ptprr |
T |
A |
10: 116,072,659 (GRCm39) |
I207N |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,785,402 (GRCm39) |
V698A |
probably benign |
Het |
Rnf212 |
A |
T |
5: 108,877,826 (GRCm39) |
M222K |
probably benign |
Het |
Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
Smap2 |
T |
C |
4: 120,839,365 (GRCm39) |
K121E |
probably damaging |
Het |
Syt11 |
A |
T |
3: 88,655,296 (GRCm39) |
V335D |
possibly damaging |
Het |
Terb1 |
A |
T |
8: 105,215,222 (GRCm39) |
C251* |
probably null |
Het |
Tmprss11d |
C |
A |
5: 86,474,432 (GRCm39) |
R37L |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,576,265 (GRCm39) |
N904S |
possibly damaging |
Het |
Vmn1r119 |
T |
A |
7: 20,745,714 (GRCm39) |
I223F |
probably damaging |
Het |
Vmn1r66 |
T |
C |
7: 10,008,683 (GRCm39) |
R117G |
possibly damaging |
Het |
Zfp106 |
T |
C |
2: 120,362,113 (GRCm39) |
D1025G |
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 |
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'- CTGATGCTGGAGAGACAAACC -3'
(R):5'- GATCAGGAACTAGATTGCCAGGC -3'
Sequencing Primer
(F):5'- ACCTTCCCAGGGTAGAGATGAC -3'
(R):5'- CAGGCCATGTGGTCCTTTCAG -3'
|
Posted On |
2019-05-13 |