Incidental Mutation 'R4235:Impg1'
| ID |
321074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
041052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R4235 (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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| 5730596B20Rik |
G |
T |
6: 52,155,941 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
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 |
| Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,751 (GRCm39) |
V231A |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,978,798 (GRCm39) |
S839P |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,872,857 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cc2d1b |
A |
T |
4: 108,482,549 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,751,057 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dgkd |
T |
A |
1: 87,859,704 (GRCm39) |
L774* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,818,231 (GRCm39) |
N205I |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,073 (GRCm39) |
D1953E |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,254,693 (GRCm39) |
I269K |
probably benign |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Has1 |
G |
T |
17: 18,070,298 (GRCm39) |
R208S |
possibly damaging |
Het |
| Hecw1 |
C |
G |
13: 14,491,724 (GRCm39) |
A423P |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Ifi208 |
T |
G |
1: 173,510,477 (GRCm39) |
S211A |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,494 (GRCm39) |
E65G |
probably damaging |
Het |
| Igkv9-120 |
A |
T |
6: 68,027,317 (GRCm39) |
D77V |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,549 (GRCm39) |
I932T |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,148,694 (GRCm39) |
T279A |
possibly damaging |
Het |
| Lamp1 |
T |
C |
8: 13,217,192 (GRCm39) |
V67A |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,699,332 (GRCm39) |
I142V |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,351,381 (GRCm39) |
N182D |
possibly damaging |
Het |
| Mcpt1 |
G |
A |
14: 56,256,017 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mfsd10 |
G |
T |
5: 34,792,969 (GRCm39) |
T44N |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,541,549 (GRCm39) |
S218P |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Neil2 |
A |
C |
14: 63,429,290 (GRCm39) |
M1R |
probably null |
Het |
| Nelfcd |
T |
C |
2: 174,268,841 (GRCm39) |
F587L |
probably damaging |
Het |
| Nfil3 |
T |
C |
13: 53,122,835 (GRCm39) |
D23G |
probably benign |
Het |
| Nit2 |
T |
C |
16: 56,977,523 (GRCm39) |
K169R |
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,267 (GRCm39) |
S3P |
probably benign |
Het |
| Ogt |
A |
G |
X: 100,711,131 (GRCm39) |
N434D |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,734,994 (GRCm39) |
S24T |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pramel25 |
G |
C |
4: 143,521,344 (GRCm39) |
C320S |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,226 (GRCm39) |
|
probably null |
Het |
| Sobp |
G |
A |
10: 42,898,896 (GRCm39) |
H230Y |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,916,600 (GRCm39) |
E2096G |
probably damaging |
Het |
| Tie1 |
G |
T |
4: 118,335,602 (GRCm39) |
S797* |
probably null |
Het |
| Tmem266 |
T |
C |
9: 55,325,391 (GRCm39) |
I186T |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tnfaip6 |
T |
C |
2: 51,940,876 (GRCm39) |
F139S |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,903 (GRCm39) |
S898P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,675 (GRCm39) |
D911G |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,647 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,846,729 (GRCm39) |
Q1651* |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,438,234 (GRCm39) |
I1943F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,709,255 (GRCm39) |
S1334T |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,101 (GRCm39) |
V47E |
probably benign |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,624 (GRCm39) |
M67K |
possibly damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,070,500 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
C |
10: 115,254,704 (GRCm39) |
Y1433H |
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 |
|
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'- GAATACCACTAGCTCCTGGC -3'
(R):5'- TCAGCCTCAATTTCCCGATCAG -3'
Sequencing Primer
(F):5'- CCCTTGGTGGCAATGGTCTC -3'
(R):5'- TTCCCGATCAGAAAATCTACCTTCG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation