Incidental Mutation 'IGL01329:Impg1'
ID74422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impg1
Ensembl Gene ENSMUSG00000032343
Gene Nameinterphotoreceptor matrix proteoglycan 1
SynonymsIMP150, SPACR, A930015H12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL01329
Quality Score
Status
Chromosome9
Chromosomal Location80313330-80465481 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80322829 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 661 (K661R)
Ref Sequence ENSEMBL: ENSMUSP00000082395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250]
Predicted Effect probably benign
Transcript: ENSMUST00000085289
AA Change: K661R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: K661R

DomainStartEndE-ValueType
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: K738R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: K738R

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A G 19: 23,652,736 probably benign Het
Abcb4 T C 5: 8,894,166 probably null Het
Ankib1 A T 5: 3,734,194 probably benign Het
Birc3 T C 9: 7,860,732 Y195C probably damaging Het
Cand2 T C 6: 115,782,794 I142T probably benign Het
Cd163l1 T A 7: 140,224,639 probably null Het
Cdh15 T C 8: 122,865,323 probably benign Het
Ceacam5 G A 7: 17,745,609 G217D probably damaging Het
Cfap54 T A 10: 93,081,523 H25L unknown Het
Col22a1 A G 15: 71,907,040 V266A probably benign Het
D3Ertd751e A G 3: 41,748,697 D69G probably benign Het
Dnah3 T C 7: 120,022,941 I1518V probably damaging Het
Entpd8 A G 2: 25,084,346 K381R probably benign Het
Fli1 T A 9: 32,424,101 K345I probably damaging Het
G6pd2 T C 5: 61,809,938 V352A probably damaging Het
Gbp11 C T 5: 105,327,616 probably null Het
Gm11992 A G 11: 9,068,383 *292W probably null Het
Ifnar2 T A 16: 91,391,711 probably benign Het
Inf2 G T 12: 112,611,856 E651* probably null Het
Ints1 A G 5: 139,767,503 probably benign Het
Iqcf4 T C 9: 106,570,633 K26E probably benign Het
Map4k3 A G 17: 80,644,184 V289A probably benign Het
Mis18bp1 T C 12: 65,158,441 K319R possibly damaging Het
Nubpl T C 12: 52,305,855 V291A probably damaging Het
Olfr1085 T C 2: 86,658,207 N84D probably benign Het
Olfr1305 A G 2: 111,872,950 F302L probably benign Het
Olfr726 C T 14: 50,083,997 R228H probably benign Het
Olfr983 A G 9: 40,092,028 S313P possibly damaging Het
Otof A G 5: 30,441,379 S29P probably benign Het
Pcca A G 14: 122,690,133 D436G possibly damaging Het
Rasef T A 4: 73,727,645 T496S probably damaging Het
Saa2 A G 7: 46,753,472 D49G probably benign Het
Scn2a A G 2: 65,717,508 I1015V probably benign Het
Sim2 T C 16: 94,106,260 Y154H possibly damaging Het
Spag17 A G 3: 100,095,549 H1863R probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Svil A G 18: 5,064,501 E1111G probably benign Het
Trabd2b T C 4: 114,409,125 V112A probably damaging Het
Vmn1r205 T C 13: 22,592,103 I276M probably benign Het
Vps13d A T 4: 145,156,206 I939N possibly damaging Het
Zc3h11a T C 1: 133,625,862 M515V probably benign Het
Zfp457 T C 13: 67,294,266 T82A possibly damaging Het
Other mutations in Impg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Impg1 APN 9 80341924 missense probably damaging 0.99
IGL02333:Impg1 APN 9 80440755 missense possibly damaging 0.74
IGL03097:Impg1 UTSW 9 80379952 missense possibly damaging 0.48
R0021:Impg1 UTSW 9 80435426 missense probably damaging 1.00
R0029:Impg1 UTSW 9 80398371 missense probably damaging 1.00
R0029:Impg1 UTSW 9 80398371 missense probably damaging 1.00
R0108:Impg1 UTSW 9 80322848 missense possibly damaging 0.63
R0201:Impg1 UTSW 9 80345561 missense probably damaging 1.00
R0271:Impg1 UTSW 9 80386879 splice site probably benign
R0316:Impg1 UTSW 9 80342065 missense probably damaging 1.00
R0492:Impg1 UTSW 9 80345308 missense possibly damaging 0.74
R0633:Impg1 UTSW 9 80394155 missense possibly damaging 0.72
R0705:Impg1 UTSW 9 80379979 missense probably damaging 1.00
R0962:Impg1 UTSW 9 80381741 missense probably benign 0.23
R1264:Impg1 UTSW 9 80314393 missense probably benign 0.31
R1707:Impg1 UTSW 9 80378517 splice site probably null
R2017:Impg1 UTSW 9 80440667 missense probably damaging 1.00
R3904:Impg1 UTSW 9 80345585 missense possibly damaging 0.76
R3960:Impg1 UTSW 9 80440864 missense probably benign 0.00
R4231:Impg1 UTSW 9 80345329 missense probably damaging 1.00
R4233:Impg1 UTSW 9 80345329 missense probably damaging 1.00
R4235:Impg1 UTSW 9 80345329 missense probably damaging 1.00
R4236:Impg1 UTSW 9 80345329 missense probably damaging 1.00
R4490:Impg1 UTSW 9 80394059 missense probably damaging 1.00
R4592:Impg1 UTSW 9 80440854 missense probably benign 0.05
R4701:Impg1 UTSW 9 80314400 missense probably benign 0.07
R4785:Impg1 UTSW 9 80398450 missense probably benign 0.01
R4796:Impg1 UTSW 9 80394095 missense probably damaging 0.99
R4923:Impg1 UTSW 9 80345078 nonsense probably null
R4923:Impg1 UTSW 9 80345545 missense probably damaging 0.98
R5468:Impg1 UTSW 9 80465265 missense probably benign 0.05
R5596:Impg1 UTSW 9 80345218 missense probably benign 0.24
R6001:Impg1 UTSW 9 80316172 missense probably benign 0.12
R6156:Impg1 UTSW 9 80322824 missense probably damaging 1.00
R6315:Impg1 UTSW 9 80394074 missense probably benign 0.21
R6419:Impg1 UTSW 9 80380018 missense probably benign 0.38
R6880:Impg1 UTSW 9 80404800 missense probably damaging 1.00
R7013:Impg1 UTSW 9 80378494 missense probably damaging 1.00
Posted On2013-10-07