Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Ide'

450712

Institutional Source

Beutler Lab

Gene Symbol

Ide

Ensembl Gene

ENSMUSG00000056999

Gene Name

insulin degrading enzyme

Synonyms

4833415K22Rik, 1300012G03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5696 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37295420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 214 (T214M)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000131070
AA Change: T214M

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: T214M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154308

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,569,159 (GRCm39)	R186W	probably benign	Het
Afg3l2	A	G	18: 67,540,529 (GRCm39)	I660T	probably damaging	Het
Amtn	T	A	5: 88,532,944 (GRCm39)	Y186*	probably null	Het
Atosa	A	G	9: 74,917,399 (GRCm39)	E666G	probably benign	Het
Atrip	A	G	9: 108,894,569 (GRCm39)	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,164,813 (GRCm39)	L840P	probably damaging	Het
Capn2	T	C	1: 182,306,165 (GRCm39)	E527G	possibly damaging	Het
Caprin2	A	T	6: 148,779,316 (GRCm39)	Y164N	possibly damaging	Het
Ccnh	T	A	13: 85,344,446 (GRCm39)		probably null	Het
Cdon	G	T	9: 35,403,162 (GRCm39)	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,548,267 (GRCm39)	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,745,611 (GRCm39)	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,191,947 (GRCm39)	S2357P	probably damaging	Het
Commd4	A	T	9: 57,063,499 (GRCm39)	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,196,934 (GRCm39)		probably benign	Het
Dag1	A	T	9: 108,086,646 (GRCm39)	V165E	probably benign	Het
Dmxl1	A	T	18: 50,065,008 (GRCm39)	K2618*	probably null	Het
Dnah17	A	G	11: 117,991,882 (GRCm39)	Y1229H	probably benign	Het
Endov	T	A	11: 119,382,625 (GRCm39)	L24Q	probably damaging	Het
Fap	C	T	2: 62,332,803 (GRCm39)	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,815,546 (GRCm39)	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,916,182 (GRCm39)	V367D	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Gbp8	C	T	5: 105,166,682 (GRCm39)	V216I	possibly damaging	Het
Gclm	G	A	3: 122,059,936 (GRCm39)	A239T	probably benign	Het
Gm11569	C	T	11: 99,689,556 (GRCm39)		probably benign	Het
Gnas	C	A	2: 174,141,468 (GRCm39)		probably benign	Het
Grb10	T	A	11: 11,883,566 (GRCm39)	N508I	probably benign	Het
Gykl1	T	G	18: 52,827,267 (GRCm39)	I158M	probably benign	Het
Il12rb2	T	A	6: 67,272,262 (GRCm39)	Q341H	possibly damaging	Het
Ints1	T	C	5: 139,740,744 (GRCm39)	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,410,100 (GRCm39)		probably null	Het
Kif1b	A	C	4: 149,358,306 (GRCm39)		probably null	Het
Kri1	A	G	9: 21,191,533 (GRCm39)	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,486,646 (GRCm39)	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,580,773 (GRCm39)	P34Q	probably damaging	Het
Ltk	T	A	2: 119,590,080 (GRCm39)	T49S	probably benign	Het
Map3k9	A	T	12: 81,780,896 (GRCm39)	H421Q	probably benign	Het
Mapkbp1	T	A	2: 119,852,201 (GRCm39)		probably null	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736 (GRCm38)		probably null	Het
Nlrp9b	A	T	7: 19,758,417 (GRCm39)	R551S	probably benign	Het
Nol4l	T	C	2: 153,260,026 (GRCm39)	T143A	probably damaging	Het
Or1r1	T	C	11: 73,875,362 (GRCm39)	H24R	possibly damaging	Het
Or51g1	T	A	7: 102,633,748 (GRCm39)	T208S	probably benign	Het
Or6z5	T	C	7: 6,477,742 (GRCm39)		probably null	Het
Or7a39	A	T	10: 78,715,919 (GRCm39)	R304S	probably benign	Het
Pde4dip	G	T	3: 97,616,806 (GRCm39)	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,305,960 (GRCm39)	G26C	probably damaging	Het
Polr1a	T	A	6: 71,906,410 (GRCm39)	F409I	probably benign	Het
Ptpn13	T	A	5: 103,702,625 (GRCm39)	M1197K	probably benign	Het
Qrich2	T	C	11: 116,335,828 (GRCm39)	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,450,731 (GRCm39)	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,267,195 (GRCm39)	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,833,857 (GRCm39)	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,219 (GRCm39)	I106T	probably damaging	Het
Slx4	G	T	16: 3,797,831 (GRCm39)	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Son	T	C	16: 91,468,301 (GRCm39)	V306A	possibly damaging	Het
Stab1	A	G	14: 30,882,178 (GRCm39)	S506P	probably benign	Het
Syne2	A	C	12: 76,040,919 (GRCm39)	D3859A	probably benign	Het
Tab1	T	A	15: 80,032,930 (GRCm39)	Y71*	probably null	Het
Tarbp1	A	C	8: 127,174,079 (GRCm39)	M909R	probably damaging	Het
Tex15	T	G	8: 34,063,220 (GRCm39)	S1157R	probably benign	Het
Tnni3	G	A	7: 4,523,453 (GRCm39)	T120I	probably benign	Het
Ttn	T	C	2: 76,747,888 (GRCm39)	E4387G	probably benign	Het
Ugt3a1	G	A	15: 9,361,534 (GRCm39)		silent	Het
Unc5d	T	C	8: 29,156,870 (GRCm39)	I783V	probably benign	Het
Usp40	T	C	1: 87,923,474 (GRCm39)	T266A	probably benign	Het
Vmn2r59	C	T	7: 41,695,468 (GRCm39)	V315I	probably benign	Het
Zbtb48	G	T	4: 152,105,067 (GRCm39)	H532N	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	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
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
R8979:Ide	UTSW	19	37,302,711 (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'- CCCCATGTGTTGATCATTTTCCAA -3'
(R):5'- ATTGTATTGCTCTGCCCTGT -3'

Sequencing Primer
(F):5'- TGATCATTTTCCAAACTATGAGCAG -3'
(R):5'- CTGTTTATTCGTTTCATGTCTGGAC -3'

Posted On

2017-01-03