Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:Ide'

683671

Institutional Source

Beutler Lab

Gene Symbol

Ide

Ensembl Gene

ENSMUSG00000056999

Gene Name

insulin degrading enzyme

Synonyms

4833415K22Rik, 1300012G03Rik

MMRRC Submission

068812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37302711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 133 (A133V)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: A133V

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	42	180	8.1e-49	PFAM
Pfam:Peptidase_M16_C	205	385	2.1e-25	PFAM
Pfam:Peptidase_M16_M	389	671	1.9e-106	PFAM
Pfam:Peptidase_M16_C	674	857	9.4e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption of this gene display beta amyloid accumulations in the brain, hyperinsulinemia and glucose intolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,545 (GRCm39)	R353S	probably damaging	Het
Ablim3	C	T	18: 61,982,397 (GRCm39)	V183I	probably benign	Het
Adgrb3	T	A	1: 25,527,115 (GRCm39)	Q607L	probably benign	Het
Adgrl1	A	G	8: 84,665,015 (GRCm39)	D1234G	probably benign	Het
Alms1	A	G	6: 85,598,009 (GRCm39)	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,246,969 (GRCm39)	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,717,899 (GRCm39)	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,847,340 (GRCm39)	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,947 (GRCm39)	Y380H	probably benign	Het
Ciapin1	A	T	8: 95,549,753 (GRCm39)	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,380,537 (GRCm39)	E151G	probably benign	Het
Cngb1	G	A	8: 96,004,913 (GRCm39)		probably benign	Het
Cntln	T	A	4: 85,048,910 (GRCm39)	V240E	probably damaging	Het
Cog5	A	G	12: 31,840,894 (GRCm39)	T240A	probably benign	Het
Col5a3	G	A	9: 20,686,597 (GRCm39)	P1343S	unknown	Het
Cspp1	T	A	1: 10,134,630 (GRCm39)	S127T	probably benign	Het
Dnah9	T	G	11: 65,895,978 (GRCm39)	M2466L	probably benign	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,013,197 (GRCm39)	W247R	probably damaging	Het
Gbp4	G	A	5: 105,267,248 (GRCm39)	T557M	probably benign	Het
Il2rb	C	A	15: 78,376,052 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,448,951 (GRCm39)	E519G	probably benign	Het
Kifc1	A	G	17: 34,102,228 (GRCm39)	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Llgl1	C	T	11: 60,601,129 (GRCm39)	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,393,833 (GRCm39)	V531L	possibly damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mid1	G	A	X: 168,768,009 (GRCm39)	A386T	probably benign	Het
Mms22l	C	T	4: 24,580,070 (GRCm39)	L760F	probably benign	Het
Mplkipl1	A	G	19: 61,164,169 (GRCm39)	Y89H	probably damaging	Het
Mst1r	C	T	9: 107,792,478 (GRCm39)	R951C	probably damaging	Het
Naalad2	G	A	9: 18,242,146 (GRCm39)	T586M	probably damaging	Het
Or4c108	C	T	2: 88,804,173 (GRCm39)	V21I	probably benign	Het
Oxct2b	A	G	4: 123,011,169 (GRCm39)	N363S	probably benign	Het
Padi6	T	G	4: 140,466,474 (GRCm39)	N145T	probably benign	Het
Plcl2	T	A	17: 50,947,145 (GRCm39)	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,496,818 (GRCm39)	S435P	probably damaging	Het
Prkacb	C	A	3: 146,518,411 (GRCm39)	G10C	probably benign	Het
Psg29	A	T	7: 16,937,544 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Ptpro	A	G	6: 137,345,140 (GRCm39)	I49V	probably benign	Het
Rassf1	A	G	9: 107,429,004 (GRCm39)	D70G	probably benign	Het
Rbm24	A	T	13: 46,572,531 (GRCm39)	T9S	probably damaging	Het
Rp1	T	C	1: 4,218,937 (GRCm39)	T948A	unknown	Het
Ryr2	A	T	13: 11,609,924 (GRCm39)	C4301S	probably benign	Het
S100pbp	T	C	4: 129,076,133 (GRCm39)	D64G	probably damaging	Het
Samd3	A	G	10: 26,120,428 (GRCm39)	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,141,277 (GRCm39)	K65*	probably null	Het
Shoc1	T	C	4: 59,047,276 (GRCm39)	T1448A	possibly damaging	Het
Slc51b	T	C	9: 65,320,210 (GRCm39)	N86D	probably benign	Het
Slc6a3	G	A	13: 73,715,720 (GRCm39)	V452I	probably benign	Het
Sobp	A	G	10: 42,896,976 (GRCm39)		probably null	Het
Spats2	T	C	15: 99,110,123 (GRCm39)	S507P	possibly damaging	Het
Spns3	C	T	11: 72,420,416 (GRCm39)	A357T	probably damaging	Het
Suox	A	T	10: 128,507,367 (GRCm39)	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,061,809 (GRCm39)	S1106C	probably benign	Het
Tbx1	T	C	16: 18,406,745 (GRCm39)	D9G	unknown	Het
Tcaf2	A	T	6: 42,601,404 (GRCm39)	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,593,262 (GRCm39)	T73A	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem233	T	A	5: 116,221,260 (GRCm39)		probably benign	Het
Tnfrsf11a	A	G	1: 105,754,825 (GRCm39)	D299G	possibly damaging	Het
Trim32	T	C	4: 65,531,692 (GRCm39)	V83A	possibly damaging	Het
Unc13a	A	T	8: 72,113,125 (GRCm39)	M242K	probably benign	Het
Vat1	C	T	11: 101,353,041 (GRCm39)	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,453,892 (GRCm39)	V186D	possibly damaging	Het
Wdfy3	A	G	5: 102,096,764 (GRCm39)	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,766,003 (GRCm39)	T1510I	probably benign	Het

Other mutations in Ide

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00422:Ide	APN	19	37,253,931 (GRCm39)	missense	unknown
IGL01924:Ide	APN	19	37,249,563 (GRCm39)	missense	unknown
IGL01925:Ide	APN	19	37,255,296 (GRCm39)	missense	unknown
IGL02616:Ide	APN	19	37,275,455 (GRCm39)	missense	unknown
R0738:Ide	UTSW	19	37,255,364 (GRCm39)	nonsense	probably null
R1509:Ide	UTSW	19	37,262,603 (GRCm39)	critical splice donor site	probably null
R1557:Ide	UTSW	19	37,258,160 (GRCm39)	splice site	probably null
R2935:Ide	UTSW	19	37,302,706 (GRCm39)	missense	unknown
R4260:Ide	UTSW	19	37,306,585 (GRCm39)	missense	unknown
R4261:Ide	UTSW	19	37,306,585 (GRCm39)	missense	unknown
R4575:Ide	UTSW	19	37,249,604 (GRCm39)	missense	unknown
R4913:Ide	UTSW	19	37,306,469 (GRCm39)	missense	unknown
R4933:Ide	UTSW	19	37,255,155 (GRCm39)	missense	unknown
R4951:Ide	UTSW	19	37,262,631 (GRCm39)	missense	unknown
R5102:Ide	UTSW	19	37,292,383 (GRCm39)	missense	unknown
R5474:Ide	UTSW	19	37,249,583 (GRCm39)	missense	unknown
R5502:Ide	UTSW	19	37,307,855 (GRCm39)	missense	unknown
R5546:Ide	UTSW	19	37,249,623 (GRCm39)	missense	unknown
R5601:Ide	UTSW	19	37,292,379 (GRCm39)	missense	unknown
R5696:Ide	UTSW	19	37,295,420 (GRCm39)	missense	unknown
R5884:Ide	UTSW	19	37,249,552 (GRCm39)	critical splice donor site	probably null
R5983:Ide	UTSW	19	37,249,549 (GRCm39)	splice site	probably null
R6286:Ide	UTSW	19	37,255,409 (GRCm39)	missense	unknown
R7146:Ide	UTSW	19	37,273,343 (GRCm39)	missense
R7224:Ide	UTSW	19	37,268,160 (GRCm39)	missense
R7234:Ide	UTSW	19	37,268,184 (GRCm39)	missense
R7695:Ide	UTSW	19	37,306,435 (GRCm39)	missense
R7771:Ide	UTSW	19	37,275,525 (GRCm39)	missense
R7811:Ide	UTSW	19	37,307,910 (GRCm39)	missense
R7893:Ide	UTSW	19	37,261,550 (GRCm39)	missense
R8289:Ide	UTSW	19	37,290,953 (GRCm39)	missense	probably null
R8289:Ide	UTSW	19	37,290,952 (GRCm39)	missense
R8359:Ide	UTSW	19	37,307,886 (GRCm39)	missense
R8421:Ide	UTSW	19	37,255,403 (GRCm39)	missense
R8828:Ide	UTSW	19	37,292,241 (GRCm39)	missense
R9134:Ide	UTSW	19	37,273,561 (GRCm39)	intron	probably benign
R9142:Ide	UTSW	19	37,307,898 (GRCm39)	missense
R9229:Ide	UTSW	19	37,261,598 (GRCm39)	missense
R9237:Ide	UTSW	19	37,307,898 (GRCm39)	missense
R9239:Ide	UTSW	19	37,307,898 (GRCm39)	missense
R9280:Ide	UTSW	19	37,307,801 (GRCm39)	intron	probably benign
R9280:Ide	UTSW	19	37,295,490 (GRCm39)	missense
R9290:Ide	UTSW	19	37,302,647 (GRCm39)	missense
R9507:Ide	UTSW	19	37,265,536 (GRCm39)	missense
R9594:Ide	UTSW	19	37,264,514 (GRCm39)	missense
Z1176:Ide	UTSW	19	37,292,890 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AAACCTGTCCCAAATTTGCTG -3'
(R):5'- GAACACTGGTACTCTCTCCCAATC -3'

Sequencing Primer
(F):5'- CCTGTCCCAAATTTGCTGAAGGG -3'
(R):5'- AGATCAGGCTGGTCTCTAACTCAG -3'

Posted On

2021-10-11