Incidental Mutation 'R6880:Impg1'
| ID |
536620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
044976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
80220612-80347534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80312082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 167
(D167V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085289]
[ENSMUST00000113250]
[ENSMUST00000185068]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085289
AA Change: D90V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: D90V
| 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: D167V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: D167V
| 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 damaging
Transcript: ENSMUST00000185068
AA Change: D90V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139151
Gene: ENSMUSG00000032343
AA Change: D90V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:SEA
|
157 |
216 |
1.2e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,123,854 (GRCm39) |
|
probably null |
Het |
| Aff3 |
T |
C |
1: 38,574,243 (GRCm39) |
H206R |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Alg5 |
A |
G |
3: 54,646,264 (GRCm39) |
E43G |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,748 (GRCm39) |
L4P |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,538,038 (GRCm39) |
I432V |
probably damaging |
Het |
| B230307C23Rik |
T |
C |
16: 97,798,627 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,743,283 (GRCm39) |
N1563Y |
probably damaging |
Het |
| Bhlha15 |
A |
T |
5: 144,128,451 (GRCm39) |
T188S |
probably damaging |
Het |
| Cbr3 |
T |
C |
16: 93,487,426 (GRCm39) |
V203A |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,486,739 (GRCm39) |
T266A |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,566,831 (GRCm39) |
Y681H |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,579,279 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
T |
A |
18: 20,221,429 (GRCm39) |
D682V |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,254,732 (GRCm39) |
I256N |
possibly damaging |
Het |
| Foxd1 |
A |
C |
13: 98,491,225 (GRCm39) |
D33A |
unknown |
Het |
| Gid4 |
T |
A |
11: 60,327,261 (GRCm39) |
F149I |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,233,068 (GRCm39) |
V206L |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,726 (GRCm39) |
I135V |
|
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,967 (GRCm39) |
S372P |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,727 (GRCm39) |
T374A |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,714,032 (GRCm39) |
S305P |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,628,044 (GRCm39) |
T1179I |
possibly damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,463 (GRCm39) |
I179T |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,855,501 (GRCm39) |
H1230L |
probably benign |
Het |
| Myocos |
T |
C |
1: 162,484,602 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,999 (GRCm39) |
T249A |
probably damaging |
Het |
| Oas1a |
C |
A |
5: 121,040,003 (GRCm39) |
R196L |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,019 (GRCm39) |
S217T |
probably damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,974 (GRCm39) |
I127V |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,314,069 (GRCm39) |
F6L |
probably benign |
Het |
| Phxr2 |
G |
A |
10: 98,961,946 (GRCm39) |
|
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,802 (GRCm39) |
L85P |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,727,202 (GRCm39) |
D518V |
possibly damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,731,839 (GRCm39) |
K294E |
probably benign |
Het |
| Polr3d |
C |
A |
14: 70,677,455 (GRCm39) |
R307L |
probably benign |
Het |
| Pou5f2 |
T |
C |
13: 78,173,613 (GRCm39) |
L185P |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,202,608 (GRCm39) |
N506Y |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,260 (GRCm39) |
S381T |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,436 (GRCm39) |
V682A |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,988,211 (GRCm39) |
L428Q |
probably benign |
Het |
| Prss23 |
A |
G |
7: 89,160,033 (GRCm39) |
V12A |
probably benign |
Het |
| Qki |
T |
C |
17: 10,434,376 (GRCm39) |
D321G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,827 (GRCm39) |
L193P |
probably damaging |
Het |
| Retreg1 |
T |
G |
15: 25,971,825 (GRCm39) |
L245R |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,434,729 (GRCm39) |
N679S |
probably benign |
Het |
| Rpl4 |
C |
T |
9: 64,084,335 (GRCm39) |
A220V |
probably damaging |
Het |
| Rxra |
G |
A |
2: 27,638,668 (GRCm39) |
E224K |
possibly damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,516,159 (GRCm39) |
C557R |
possibly damaging |
Het |
| Sncaip |
A |
G |
18: 53,002,136 (GRCm39) |
K219R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,234,978 (GRCm39) |
V1616A |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,912,979 (GRCm39) |
C738R |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,892,998 (GRCm39) |
C38* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,550,842 (GRCm39) |
T23190A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,855 (GRCm39) |
D96G |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,860,500 (GRCm39) |
N289I |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,187 (GRCm39) |
S723T |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,134,770 (GRCm39) |
I63F |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,222,021 (GRCm39) |
N125S |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,033,548 (GRCm39) |
Y511C |
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 |
|
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'- CCAAAGTTCTAGAAATGAGAGGTGC -3'
(R):5'- AGGGGAGTCAGACATAACCATTC -3'
Sequencing Primer
(F):5'- GAGGTGCGTTATAATTTTTACCAGC -3'
(R):5'- CAGACATAACCATTCAAAGAGGTTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation