Mutagenetix > Incidental Mutation

Incidental Mutation 'R0705:Impg1'

63118

Institutional Source

Beutler Lab

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

SPACR, A930015H12Rik, IMP150

MMRRC Submission

038888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0705 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

80220612-80347534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80287261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 395 (L395Q)

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: L318Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: L318Q

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: L395Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: L395Q

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: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.2%

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic4	G	T	1: 75,428,014 (GRCm39)	C180F	probably damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Crebbp	A	C	16: 3,972,874 (GRCm39)	S273R	possibly damaging	Het
Dpy19l3	T	A	7: 35,394,741 (GRCm39)	Y599F	probably damaging	Het
Ecpas	A	T	4: 58,885,366 (GRCm39)		probably null	Het
Fam234b	A	T	6: 135,204,213 (GRCm39)	D452V	probably benign	Het
Fbxw22	G	T	9: 109,232,164 (GRCm39)	H78N	possibly damaging	Het
Hpgd	T	C	8: 56,748,074 (GRCm39)	V65A	probably damaging	Het
Kcnq5	A	G	1: 21,605,401 (GRCm39)	M168T	probably damaging	Het
Spink5	T	A	18: 44,125,341 (GRCm39)	M403K	probably benign	Het
Ssxb9	T	G	X: 8,238,022 (GRCm39)	S130R	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
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
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'- GGAAGAGGACTCTCAATCACAGCCT -3'
(R):5'- GCCACTTCATCCTGTAATTCCCATCACA -3'

Sequencing Primer
(F):5'- gaagtgggtgggttggg -3'
(R):5'- AGAACCTTAACTGTCTTGTTACCT -3'

Posted On

2013-07-30