Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02333:Impg1'

288769

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

IMP150, SPACR, A930015H12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02333

Quality Score

Status

Chromosome

Chromosomal Location

80313330-80465481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80440755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 66 (L66F)

Ref Sequence

ENSEMBL: ENSMUSP00000108876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085289] [ENSMUST00000113250] [ENSMUST00000185068]

AlphaFold

Q8R1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000085289

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343

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

possibly damaging
Transcript: ENSMUST00000113250
AA Change: L66F

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: L66F

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,971,447	V276I	probably benign	Het
Acss2	T	A	2: 155,555,884	W289R	probably damaging	Het
Alpk2	A	G	18: 65,349,480	S19P	probably damaging	Het
Ano3	T	C	2: 110,697,199		probably benign	Het
Atxn1	G	A	13: 45,567,204	S405F	probably damaging	Het
Atxn2	A	G	5: 121,781,387	Y386C	probably damaging	Het
Bach2	T	A	4: 32,575,334	L643*	probably null	Het
Ccl22	T	A	8: 94,749,879	L91Q	probably damaging	Het
Cdc40	A	G	10: 40,867,859	Y81H	probably benign	Het
Col5a3	C	A	9: 20,799,306	R549M	unknown	Het
Eif3e	A	T	15: 43,266,137	N198K	probably benign	Het
Emp2	A	G	16: 10,284,511	Y146H	probably damaging	Het
Itsn1	A	G	16: 91,820,676		probably benign	Het
Khdrbs3	T	C	15: 69,049,394	Y187H	probably damaging	Het
Klhdc7a	T	A	4: 139,967,156	H160L	probably benign	Het
Klhl2	G	A	8: 64,759,750	R252W	probably damaging	Het
Krba1	C	T	6: 48,413,087	T595I	probably damaging	Het
Myo9b	G	T	8: 71,358,993	D1887Y	possibly damaging	Het
Olfm4	C	T	14: 80,021,770	T453I	probably damaging	Het
Sin3a	A	G	9: 57,107,559	N688S	possibly damaging	Het
Slc47a1	A	G	11: 61,370,124	V150A	probably damaging	Het
Sptbn4	A	G	7: 27,364,299	L2234P	probably damaging	Het
Trpm4	C	T	7: 45,322,115	V166M	possibly damaging	Het
Usp54	A	T	14: 20,589,395	F156L	probably damaging	Het
Vmn2r32	A	T	7: 7,464,144	F795Y	probably damaging	Het

Other mutations in Impg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Impg1	APN	9	80322829	missense	probably benign	0.02
IGL01733:Impg1	APN	9	80341924	missense	probably damaging	0.99
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
R8542:Impg1	UTSW	9	80404798	missense	probably damaging	1.00
R9018:Impg1	UTSW	9	80394192	missense	probably benign	0.19
R9034:Impg1	UTSW	9	80465298	start gained	probably benign
R9174:Impg1	UTSW	9	80345468	missense	probably damaging	0.99
R9242:Impg1	UTSW	9	80381782	missense	probably damaging	1.00
R9344:Impg1	UTSW	9	80404758	missense	probably benign	0.39
R9380:Impg1	UTSW	9	80381795	missense	probably benign	0.34
R9584:Impg1	UTSW	9	80440796	missense	probably benign	0.14
R9594:Impg1	UTSW	9	80381641	missense	probably damaging	1.00
R9632:Impg1	UTSW	9	80379994	missense	probably benign	0.24
R9710:Impg1	UTSW	9	80379994	missense	probably benign	0.24
Z1176:Impg1	UTSW	9	80378467	missense	probably benign	0.11

Posted On

2015-04-16