Mutagenetix > Incidental Mutation

Incidental Mutation 'R9380:Impg1'

709947

Institutional Source

Beutler Lab

Gene Symbol

Impg1

Ensembl Gene

ENSMUSG00000032343

Gene Name

interphotoreceptor matrix proteoglycan 1

Synonyms

SPACR, A930015H12Rik, IMP150

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80220612-80347534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80289077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 327 (S327T)

Ref Sequence

ENSEMBL: ENSMUSP00000108876 (fasta)

Gene Model

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

AlphaFold

Q8R1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000085289
AA Change: S250T

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082395
Gene: ENSMUSG00000032343
AA Change: S250T

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: S327T

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108876
Gene: ENSMUSG00000032343
AA Change: S327T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	G	1: 78,659,602 (GRCm39)	C85G	possibly damaging	Het
Alox12e	A	T	11: 70,206,994 (GRCm39)		probably null	Het
Aoc1l2	T	C	6: 48,910,064 (GRCm39)	I667T	probably damaging	Het
Asb10	A	C	5: 24,739,103 (GRCm39)		probably null	Het
B3galt9	G	A	2: 34,729,029 (GRCm39)	C276Y	probably damaging	Het
Bcl2a1d	G	A	9: 88,613,935 (GRCm39)		probably benign	Het
Camsap3	A	T	8: 3,653,999 (GRCm39)	K556N	probably benign	Het
Cd300lf	T	A	11: 115,015,153 (GRCm39)	T146S	probably benign	Het
Chuk	C	A	19: 44,062,958 (GRCm39)	A744S	unknown	Het
Clint1	A	T	11: 45,742,988 (GRCm39)	M4L	probably benign	Het
Cnot4	T	C	6: 35,029,865 (GRCm39)	I344M	possibly damaging	Het
Cpne1	T	C	2: 155,920,721 (GRCm39)	D135G	probably benign	Het
Csgalnact2	C	A	6: 118,105,840 (GRCm39)	L159F	probably damaging	Het
Dnai2	T	C	11: 114,635,989 (GRCm39)	F325L	probably benign	Het
Dnal4	G	A	15: 79,647,790 (GRCm39)	S25L	possibly damaging	Het
Ep300	T	C	15: 81,500,245 (GRCm39)	M515T	unknown	Het
Ewsr1	T	C	11: 5,043,730 (GRCm39)	Y18C	possibly damaging	Het
Fam25a	T	C	14: 34,073,957 (GRCm39)	T72A	possibly damaging	Het
Flii	T	C	11: 60,606,297 (GRCm39)	Y1131C	probably benign	Het
Foxj1	C	T	11: 116,222,547 (GRCm39)	A419T	possibly damaging	Het
Fsd1l	A	G	4: 53,693,991 (GRCm39)	T323A	possibly damaging	Het
Furin	T	C	7: 80,041,506 (GRCm39)	I551V	probably benign	Het
Gbp11	A	G	5: 105,475,202 (GRCm39)	V382A	probably benign	Het
Gfod1	A	C	13: 43,354,320 (GRCm39)	D218E	probably damaging	Het
Glp2r	A	T	11: 67,637,572 (GRCm39)	I153N	possibly damaging	Het
Gm11214	G	T	4: 63,580,850 (GRCm39)	P100T	possibly damaging	Het
Gne	A	T	4: 44,066,807 (GRCm39)	F69I	probably benign	Het
Hsd3b2	T	C	3: 98,619,453 (GRCm39)	K164R	probably damaging	Het
Hspa1b	T	C	17: 35,177,170 (GRCm39)	R272G	probably damaging	Het
Hydin	C	A	8: 111,290,504 (GRCm39)	T3321N	probably benign	Het
Izumo2	T	C	7: 44,364,812 (GRCm39)	V159A	probably benign	Het
Kat6b	T	C	14: 21,678,926 (GRCm39)	S430P	probably damaging	Het
Kcnj9	T	A	1: 172,153,447 (GRCm39)	T226S	probably benign	Het
Kl	T	A	5: 150,912,342 (GRCm39)	M697K	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrrk1	G	A	7: 65,928,331 (GRCm39)	P1266S	probably damaging	Het
Med13	A	T	11: 86,177,598 (GRCm39)	N1499K	probably benign	Het
Mybbp1a	A	G	11: 72,333,668 (GRCm39)	I182V	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nin	A	G	12: 70,074,805 (GRCm39)	L1859P		Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Or2y10	A	G	11: 49,454,904 (GRCm39)	D52G	possibly damaging	Het
Or4a67	A	T	2: 88,598,530 (GRCm39)	I43N	probably damaging	Het
Or4k1	C	A	14: 50,377,770 (GRCm39)	G109W	probably damaging	Het
Or8b50	A	G	9: 38,518,415 (GRCm39)	Y218C	probably damaging	Het
Osbpl8	T	A	10: 111,108,980 (GRCm39)	S421T	probably damaging	Het
Paqr7	A	G	4: 134,234,350 (GRCm39)	N69S	probably damaging	Het
Pcare	A	T	17: 72,056,351 (GRCm39)	S1109T	possibly damaging	Het
Pdgfrb	G	A	18: 61,197,920 (GRCm39)	G231D	probably damaging	Het
Pip5k1b	A	G	19: 24,356,417 (GRCm39)	Y174H	probably damaging	Het
Pkd1	T	A	17: 24,769,262 (GRCm39)	L9Q	unknown	Het
Psmg4	A	T	13: 34,350,080 (GRCm39)	T71S	probably benign	Het
Ptpn23	A	G	9: 110,221,581 (GRCm39)	I173T	possibly damaging	Het
Qser1	G	A	2: 104,619,691 (GRCm39)	Q284*	probably null	Het
Rcc2	G	T	4: 140,429,702 (GRCm39)	A79S	probably benign	Het
Rgl3	G	T	9: 21,888,123 (GRCm39)	Q464K	probably damaging	Het
Rhov	C	A	2: 119,100,604 (GRCm39)	R211L	probably benign	Het
Rp1l1	A	G	14: 64,266,475 (GRCm39)	D687G	probably benign	Het
Selenbp2	A	G	3: 94,609,654 (GRCm39)	I291V	probably benign	Het
Sh3glb2	A	T	2: 30,238,625 (GRCm39)	V189E	probably damaging	Het
Slc46a2	A	G	4: 59,913,867 (GRCm39)	I352T	probably damaging	Het
Sucla2	T	A	14: 73,828,312 (GRCm39)	N306K	probably benign	Het
Suco	A	G	1: 161,646,074 (GRCm39)	V1209A	possibly damaging	Het
Tacc2	T	A	7: 130,226,771 (GRCm39)	L1152Q	possibly damaging	Het
Tanc1	A	T	2: 59,665,796 (GRCm39)	K1185M	probably damaging	Het
Tas2r114	A	G	6: 131,666,381 (GRCm39)	F216L	probably benign	Het
Tead1	A	T	7: 112,441,105 (GRCm39)	H78L	possibly damaging	Het
Tex12	T	C	9: 50,469,586 (GRCm39)	I64V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trank1	A	G	9: 111,221,738 (GRCm39)	E2825G	probably benign	Het
Trappc13	T	A	13: 104,280,707 (GRCm39)	Y399F	probably damaging	Het
Trim21	T	C	7: 102,212,992 (GRCm39)	D102G	probably damaging	Het
Trim27	G	T	13: 21,364,680 (GRCm39)	V6L	probably benign	Het
Trim55	A	G	3: 19,728,559 (GRCm39)	T457A	probably benign	Het
Trrap	A	G	5: 144,769,981 (GRCm39)	E2716G	probably benign	Het
Usp10	T	G	8: 120,682,943 (GRCm39)	L712R	probably damaging	Het
Vldlr	T	A	19: 27,216,192 (GRCm39)	C338S	possibly damaging	Het
Zfp946	A	G	17: 22,673,680 (GRCm39)	I145V	probably benign	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
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
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'- ACTGACCATCACCGAATGG -3'
(R):5'- ACCCAGGCTGACATTCTACTTTAAAAC -3'

Sequencing Primer
(F):5'- CTGACCATCACCGAATGGAATTTTC -3'
(R):5'- GGAATTGAAATCAGGACCTCTGCTC -3'

Posted On

2022-04-18