Incidental Mutation 'R6419:Impg1'
| ID |
518010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Impg1
|
| Ensembl Gene |
ENSMUSG00000032343 |
| Gene Name |
interphotoreceptor matrix proteoglycan 1 |
| Synonyms |
SPACR, A930015H12Rik, IMP150 |
| MMRRC Submission |
044561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6419 (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 G
at 80287300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 305
(V305A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085289]
[ENSMUST00000113250]
[ENSMUST00000185068]
|
| AlphaFold |
Q8R1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085289
AA Change: V305A
PolyPhen 2
Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: V305A
| 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: V382A
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: V382A
| 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: ENSMUST00000185068
|
| SMART Domains |
Protein: ENSMUSP00000139151
Gene: ENSMUSG00000032343
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
96% (67/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
C |
4: 42,812,473 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,825,947 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,215,759 (GRCm39) |
T260M |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,231,556 (GRCm39) |
V878I |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,144,953 (GRCm39) |
E34G |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,796,803 (GRCm39) |
I293N |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,619 (GRCm39) |
S413N |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,839 (GRCm39) |
E325V |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,348 (GRCm39) |
H1310Q |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,826,834 (GRCm39) |
N204K |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,150 (GRCm39) |
D284N |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,520,483 (GRCm39) |
L316S |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,008 (GRCm39) |
K247R |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,574,801 (GRCm39) |
H257R |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,891 (GRCm39) |
Y197N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,962,178 (GRCm39) |
C554* |
probably null |
Het |
| Col4a4 |
A |
G |
1: 82,444,207 (GRCm39) |
|
probably null |
Het |
| Cops5 |
G |
A |
1: 10,103,532 (GRCm39) |
T158I |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,282 (GRCm39) |
F242S |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,315 (GRCm39) |
V1512A |
possibly damaging |
Het |
| Dstn |
T |
G |
2: 143,781,907 (GRCm39) |
I116S |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,398 (GRCm39) |
D326N |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,684,089 (GRCm39) |
Y52N |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,426 (GRCm39) |
S359P |
probably benign |
Het |
| Gbp7 |
G |
A |
3: 142,252,214 (GRCm39) |
G599E |
probably benign |
Het |
| Gcat |
T |
G |
15: 78,920,264 (GRCm39) |
I198S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,466,755 (GRCm39) |
K82R |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,717,965 (GRCm39) |
F709S |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,620,201 (GRCm39) |
N348D |
probably damaging |
Het |
| Hdgfl1 |
G |
A |
13: 26,954,075 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
G |
T |
18: 61,285,296 (GRCm39) |
D564E |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,334,414 (GRCm39) |
S313T |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,484 (GRCm39) |
I395K |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,708,459 (GRCm39) |
Y196* |
probably null |
Het |
| Lad1 |
T |
C |
1: 135,759,630 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,860,090 (GRCm39) |
F504L |
possibly damaging |
Het |
| Med4 |
A |
T |
14: 73,751,363 (GRCm39) |
D104V |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,301,073 (GRCm39) |
N128Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,068,668 (GRCm39) |
T54A |
probably benign |
Het |
| Notch2 |
G |
T |
3: 98,007,705 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
T |
3: 109,690,169 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,009,113 (GRCm39) |
W301* |
probably null |
Het |
| Or5b116 |
T |
A |
19: 13,423,131 (GRCm39) |
S252T |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,766 (GRCm39) |
S113P |
possibly damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,608 (GRCm39) |
N378S |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,975 (GRCm39) |
S185P |
possibly damaging |
Het |
| Ptprn |
G |
A |
1: 75,240,681 (GRCm39) |
R31C |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,698,117 (GRCm39) |
V478M |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,784 (GRCm39) |
L19* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,881 (GRCm39) |
|
probably null |
Het |
| Spen |
A |
T |
4: 141,203,621 (GRCm39) |
S1669T |
unknown |
Het |
| Syne2 |
T |
C |
12: 76,143,740 (GRCm39) |
F1522L |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,185,783 (GRCm39) |
A470T |
possibly damaging |
Het |
| Tent4a |
A |
C |
13: 69,658,785 (GRCm39) |
M350R |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,694,912 (GRCm39) |
E182* |
probably null |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
C |
T |
1: 84,771,591 (GRCm39) |
A186T |
probably damaging |
Het |
| Ufc1 |
C |
T |
1: 171,116,529 (GRCm39) |
A147T |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,777 (GRCm39) |
K314R |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,323,085 (GRCm39) |
I68K |
possibly damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,767 (GRCm39) |
I698F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,795 (GRCm39) |
K607R |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,196,457 (GRCm39) |
V28A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,373,236 (GRCm39) |
N166S |
possibly damaging |
Het |
| Wfdc17 |
G |
A |
11: 83,595,634 (GRCm39) |
G33R |
probably damaging |
Het |
| Zfp330 |
T |
G |
8: 83,491,545 (GRCm39) |
K209N |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,934,526 (GRCm39) |
T160A |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,940 (GRCm39) |
C262S |
possibly 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 |
|
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'- GGAAGAGGACTCTCAATCACAG -3'
(R):5'- TCCTCCAGTGCATTATTCAGATTAG -3'
Sequencing Primer
(F):5'- TCAGTAACCTCAGAGCTTGTG -3'
(R):5'- CTTAGGAATTCACTACTACCAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation