Mutagenetix > Incidental Mutation

Incidental Mutation 'R7224:Ide'

562070

Institutional Source

Beutler Lab

Gene Symbol

Ide

Ensembl Gene

ENSMUSG00000056999

Gene Name

insulin degrading enzyme

Synonyms

4833415K22Rik, 1300012G03Rik

MMRRC Submission

045296-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7224 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37268160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 565 (E565G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: E565G

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: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,943,275 (GRCm39)	T60M	probably benign	Het
Actn4	C	T	7: 28,661,509 (GRCm39)	A34T	probably benign	Het
Acvrl1	A	G	15: 101,041,245 (GRCm39)	M466V	probably benign	Het
Adamts7	T	C	9: 90,067,868 (GRCm39)	Y453H	probably damaging	Het
Amfr	G	A	8: 94,711,484 (GRCm39)	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,516,688 (GRCm39)	T492M	probably benign	Het
Anxa6	A	G	11: 54,876,993 (GRCm39)	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,318,384 (GRCm39)	Y394D	unknown	Het
Atic	G	A	1: 71,610,014 (GRCm39)	V342I	probably benign	Het
Atl1	C	A	12: 70,002,127 (GRCm39)	T362N	probably benign	Het
Atp10a	A	T	7: 58,447,219 (GRCm39)	M654L	probably benign	Het
B3gnt5	A	T	16: 19,588,503 (GRCm39)	M241L	probably benign	Het
Bbs7	A	G	3: 36,659,877 (GRCm39)	V186A	possibly damaging	Het
Brme1	A	G	8: 84,898,842 (GRCm39)	T577A	probably benign	Het
C8b	T	C	4: 104,637,795 (GRCm39)	L89P	probably damaging	Het
Capn7	G	T	14: 31,092,678 (GRCm39)	E742*	probably null	Het
Ccdc162	G	A	10: 41,437,187 (GRCm39)	R1741C	probably damaging	Het
Cdhr17	T	C	5: 17,041,592 (GRCm39)	V615A	possibly damaging	Het
Chsy3	T	A	18: 59,542,047 (GRCm39)	L395H	probably damaging	Het
Cnot9	A	G	1: 74,556,388 (GRCm39)	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp2d12	T	A	15: 82,441,849 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,436,420 (GRCm39)	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,584,196 (GRCm39)	G533D	possibly damaging	Het
Eddm13	T	G	7: 6,271,801 (GRCm39)	M77R	probably benign	Het
Elfn1	A	G	5: 139,958,228 (GRCm39)	S411G	probably benign	Het
Enpp3	T	C	10: 24,652,782 (GRCm39)	D725G	possibly damaging	Het
Fmnl1	T	C	11: 103,073,595 (GRCm39)		probably null	Het
Fndc8	T	C	11: 82,783,151 (GRCm39)	M44T	probably benign	Het
Gcgr	A	T	11: 120,425,538 (GRCm39)		probably benign	Het
Ggt1	T	A	10: 75,410,110 (GRCm39)	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,331,447 (GRCm39)	I198M	unknown	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm6034	T	A	17: 36,367,331 (GRCm39)	S59T	unknown	Het
Gm6408	G	A	5: 146,421,180 (GRCm39)	V270I	probably benign	Het
Gpr20	A	T	15: 73,567,981 (GRCm39)	I136N	probably damaging	Het
Igsf9	T	C	1: 172,322,349 (GRCm39)	S515P	probably damaging	Het
Kbtbd12	G	A	6: 88,590,965 (GRCm39)	R416*	probably null	Het
Kcnd3	A	T	3: 105,576,400 (GRCm39)	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,756,805 (GRCm39)	M265L	probably benign	Het
Klhdc1	G	A	12: 69,309,923 (GRCm39)	S275N	probably damaging	Het
Ldc1	C	G	4: 130,112,992 (GRCm39)	A135P	probably damaging	Het
Lrba	A	C	3: 86,302,553 (GRCm39)	N1871T	probably damaging	Het
Lrrk1	A	G	7: 65,982,134 (GRCm39)	V169A	probably damaging	Het
Magi1	A	G	6: 93,660,070 (GRCm39)	I1175T	probably benign	Het
Man1a2	T	C	3: 100,489,369 (GRCm39)	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,459,209 (GRCm39)	N129S	probably damaging	Het
Mup5	G	A	4: 61,750,622 (GRCm39)	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,488,877 (GRCm39)	R216C	probably damaging	Het
Neb	T	C	2: 52,224,671 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or52m2	A	T	7: 102,263,974 (GRCm39)	M74K	probably damaging	Het
Or5a1	T	C	19: 12,097,912 (GRCm39)	T55A	probably benign	Het
Or8b12b	G	A	9: 37,684,711 (GRCm39)	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,110,872 (GRCm39)	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,706,511 (GRCm39)	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,895,241 (GRCm39)	L623P		Het
Plxdc1	T	C	11: 97,823,153 (GRCm39)	T363A	possibly damaging	Het
Pole3	T	C	4: 62,442,287 (GRCm39)	D111G	unknown	Het
R3hdm2	T	A	10: 127,294,022 (GRCm39)	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Rcbtb1	C	G	14: 59,465,828 (GRCm39)	I390M	probably damaging	Het
Romo1	G	A	2: 155,986,295 (GRCm39)		probably benign	Het
Sars1	A	G	3: 108,335,519 (GRCm39)	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,224,724 (GRCm39)	T327A	probably benign	Het
Slc30a5	A	G	13: 100,945,762 (GRCm39)	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,473,044 (GRCm39)	E43K	probably benign	Het
Slc38a2	A	C	15: 96,589,240 (GRCm39)	L418W	probably damaging	Het
Snx14	T	C	9: 88,276,614 (GRCm39)	E557G	possibly damaging	Het
Spata33	T	A	8: 123,948,737 (GRCm39)	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,714,839 (GRCm39)	H170L	probably damaging	Het
Trpm1	A	G	7: 63,868,854 (GRCm39)		probably null	Het
Tsr3	A	T	17: 25,461,569 (GRCm39)	E302D	probably benign	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Usp2	C	T	9: 43,987,266 (GRCm39)	T188M	possibly damaging	Het
Usp44	A	G	10: 93,681,855 (GRCm39)	I102V	probably benign	Het
Wasf1	A	G	10: 40,802,546 (GRCm39)	N67S	probably benign	Het
Zfp445	T	C	9: 122,681,208 (GRCm39)	N911S	probably benign	Het
Zfp467	A	G	6: 48,421,903 (GRCm39)		probably null	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
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'- CAAGGAAACTCTGCATACTATGAATGG -3'
(R):5'- AGAATTCAGCCTTGTTCTTGGG -3'

Sequencing Primer
(F):5'- TGGTACACAGTGGAATGTTAGAG -3'
(R):5'- CAGCACACTGGGAAGTAATA -3'

Posted On

2019-06-26