Incidental Mutation 'R5596:Impg1'
| ID |
437838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
043148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R5596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80252500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 483
(V483E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085289]
[ENSMUST00000113250]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085289
AA Change: V483E
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: V483E
| 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: V560E
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: V560E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,000,972 (GRCm39) |
M1503V |
possibly damaging |
Het |
| Abraxas1 |
A |
T |
5: 100,966,403 (GRCm39) |
V53D |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,461,463 (GRCm39) |
S672P |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,673,313 (GRCm39) |
|
probably benign |
Het |
| Cacng7 |
A |
T |
7: 3,415,420 (GRCm39) |
I262F |
probably benign |
Het |
| Capzb |
T |
G |
4: 139,006,738 (GRCm39) |
|
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,676,020 (GRCm39) |
L225P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,268,095 (GRCm39) |
T685A |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,611,041 (GRCm39) |
T177M |
probably damaging |
Het |
| Creb3l3 |
T |
G |
10: 80,920,881 (GRCm39) |
D383A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,578 (GRCm39) |
I16F |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,343,754 (GRCm39) |
A2385S |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,493 (GRCm39) |
I158V |
probably benign |
Het |
| Erich3 |
A |
T |
3: 154,433,033 (GRCm39) |
T139S |
probably damaging |
Het |
| Fam186b |
A |
T |
15: 99,169,170 (GRCm39) |
S926T |
possibly damaging |
Het |
| Gjd2 |
C |
A |
2: 113,841,965 (GRCm39) |
V171F |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,082 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
TTN |
9: 66,341,345 (GRCm39) |
|
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,799 (GRCm39) |
N196S |
probably damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,580,597 (GRCm39) |
D213G |
probably damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,159,771 (GRCm39) |
N1273K |
probably benign |
Het |
| Musk |
T |
C |
4: 58,373,036 (GRCm39) |
C654R |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,951 (GRCm39) |
S274T |
noncoding transcript |
Het |
| Omd |
A |
G |
13: 49,745,814 (GRCm39) |
H408R |
probably benign |
Het |
| Pbld2 |
C |
T |
10: 62,907,791 (GRCm39) |
A219V |
probably damaging |
Het |
| Pramel22 |
T |
A |
4: 143,381,025 (GRCm39) |
T333S |
probably damaging |
Het |
| Pramel32 |
C |
T |
4: 88,548,292 (GRCm39) |
E38K |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,816,683 (GRCm39) |
I246T |
probably damaging |
Het |
| Sap18b |
G |
T |
8: 96,551,998 (GRCm39) |
A3S |
unknown |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
G |
T |
2: 148,237,652 (GRCm39) |
V88F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tmcc2 |
T |
C |
1: 132,288,221 (GRCm39) |
N489D |
probably damaging |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,907,778 (GRCm39) |
V1274E |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,544,221 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
A |
T |
9: 38,633,874 (GRCm39) |
I26F |
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 |
|
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'- GCAACGATCCTAATGTAGCCC -3'
(R):5'- TGCATCCTCCAGTGACAGAG -3'
Sequencing Primer
(F):5'- GATCCTAATGTAGCCCTAAAGCG -3'
(R):5'- CTCCAGTGACAGAGAGCTGATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation