Incidental Mutation 'R1264:Impg1'
| ID |
151114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
039331-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1264 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80221675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 715
(D715G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035889]
[ENSMUST00000076140]
[ENSMUST00000085289]
[ENSMUST00000113250]
[ENSMUST00000113266]
[ENSMUST00000113268]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035889
|
| SMART Domains |
Protein: ENSMUSP00000036181
Gene: ENSMUSG00000033577
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1113 |
3e-29 |
BLAST |
|
PDB:3H8D|D
|
1134 |
1262 |
1e-74 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076140
|
| SMART Domains |
Protein: ENSMUSP00000075501
Gene: ENSMUSG00000033577
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1126 |
2e-27 |
BLAST |
|
PDB:3H8D|D
|
1138 |
1266 |
8e-75 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085289
AA Change: D715G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: D715G
| 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: D792G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: D792G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113266
|
| SMART Domains |
Protein: ENSMUSP00000108891
Gene: ENSMUSG00000033577
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1113 |
3e-29 |
BLAST |
|
PDB:3H8D|D
|
1125 |
1253 |
9e-75 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113268
|
| SMART Domains |
Protein: ENSMUSP00000108893
Gene: ENSMUSG00000033577
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
51 |
772 |
N/A |
SMART |
|
IQ
|
812 |
834 |
8.58e-1 |
SMART |
|
low complexity region
|
909 |
980 |
N/A |
INTRINSIC |
|
low complexity region
|
982 |
1002 |
N/A |
INTRINSIC |
|
Blast:MYSc
|
1003 |
1135 |
2e-26 |
BLAST |
|
Pfam:Myosin-VI_CBD
|
1167 |
1257 |
1.4e-46 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
| Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
| Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
| Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
| Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
| Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
| Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
| Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
| Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
| Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
| Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
| Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
| Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CAAATACACGCCTGTGCTCTTGTTC -3'
(R):5'- GATGCGGTCCCAGTGGGTTATAAAG -3'
Sequencing Primer
(F):5'- GTTCAAGCATGCTGAGTCTC -3'
(R):5'- GTCCCAGTGGGTTATAAAGTTAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation