Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Ide'

382024

Institutional Source

Beutler Lab

Gene Symbol

Ide

Ensembl Gene

ENSMUSG00000056999

Gene Name

insulin degrading enzyme

Synonyms

4833415K22Rik, 1300012G03Rik

MMRRC Submission

042548-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4951 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

37246142-37340010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37262631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 695 (L695F)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000131070
AA Change: L695F

SMART Domains

Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: L695F

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: ENSMUST00000134740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154339

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,088,336 (GRCm39)	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,391,532 (GRCm39)	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,731,874 (GRCm39)	V179M	probably damaging	Het
Agap1	T	A	1: 89,537,225 (GRCm39)	V77E	probably damaging	Het
Ahnak	A	T	19: 8,995,199 (GRCm39)	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,762,545 (GRCm39)	M437T	probably benign	Het
C2cd4c	C	A	10: 79,448,839 (GRCm39)	A103S	possibly damaging	Het
Clip1	A	T	5: 123,768,408 (GRCm39)	D776E	probably benign	Het
Cntn3	C	T	6: 102,145,986 (GRCm39)	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Crtac1	C	T	19: 42,402,570 (GRCm39)	A13T	probably benign	Het
Ddx50	C	T	10: 62,469,899 (GRCm39)	A363T	probably damaging	Het
Dock9	A	G	14: 121,890,547 (GRCm39)	V241A	probably benign	Het
Dysf	T	C	6: 84,091,102 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,674,175 (GRCm39)	M375K	probably damaging	Het
Fam13c	G	A	10: 70,387,621 (GRCm39)		probably null	Het
Ftcd	C	T	10: 76,420,517 (GRCm39)	A417V	probably benign	Het
Gak	A	G	5: 108,730,584 (GRCm39)	S941P	probably benign	Het
Ganc	A	G	2: 120,286,528 (GRCm39)	T786A	probably benign	Het
Gfi1	A	C	5: 107,868,009 (GRCm39)	S420A	probably damaging	Het
Ghsr	A	T	3: 27,426,510 (GRCm39)	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,185,019 (GRCm39)	G122D	probably damaging	Het
Gm10065	C	T	13: 21,663,421 (GRCm39)	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749 (GRCm38)		noncoding transcript	Het
Gm973	G	A	1: 59,580,633 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,449 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,044 (GRCm39)	Y781N	probably damaging	Het
Il17re	T	A	6: 113,445,868 (GRCm39)	V393E	probably damaging	Het
Lipo3	A	G	19: 33,759,621 (GRCm39)	V205A	probably benign	Het
Lipo5	C	T	19: 33,446,251 (GRCm39)	E49K	probably damaging	Het
Lonp1	A	T	17: 56,927,335 (GRCm39)	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,640,959 (GRCm39)	L82P	probably damaging	Het
Lrp2	A	T	2: 69,366,332 (GRCm39)	C256S	probably damaging	Het
Map1b	A	T	13: 99,568,935 (GRCm39)	I1262K	unknown	Het
Mctp1	C	T	13: 76,975,894 (GRCm39)	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459 (GRCm39)	W1583R	probably damaging	Het
Mis12	T	A	11: 70,916,473 (GRCm39)	Y169N	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msh5	G	A	17: 35,257,396 (GRCm39)	Q333*	probably null	Het
Necap2	A	T	4: 140,799,834 (GRCm39)		probably null	Het
Nfatc2	T	C	2: 168,412,992 (GRCm39)	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,164,726 (GRCm39)	V906A	possibly damaging	Het
Or2ak7	G	A	11: 58,575,589 (GRCm39)	V297I	probably damaging	Het
Or4a2	T	A	2: 89,248,116 (GRCm39)	I214F	probably benign	Het
Or4l1	A	T	14: 50,166,515 (GRCm39)	L162*	probably null	Het
Or5b125-ps1	A	T	19: 13,056,620 (GRCm39)		noncoding transcript	Het
Or8g24	A	G	9: 38,989,555 (GRCm39)	F162S	probably benign	Het
Pate5	A	G	9: 35,750,732 (GRCm39)	V30A	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,287 (GRCm39)	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,474 (GRCm39)	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,810,954 (GRCm39)	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,735,912 (GRCm39)	P2137L	probably benign	Het
Rif1	T	A	2: 51,974,998 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,759,848 (GRCm39)	V1551A	probably benign	Het
Ror2	C	T	13: 53,271,183 (GRCm39)	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,560,188 (GRCm39)	D542V	probably damaging	Het
Sema4g	A	G	19: 44,985,010 (GRCm39)		probably null	Het
Serpinb6d	T	G	13: 33,850,366 (GRCm39)	S64R	probably benign	Het
Serpine1	C	T	5: 137,098,205 (GRCm39)	R156K	probably benign	Het
Setdb2	A	G	14: 59,639,752 (GRCm39)	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,466,693 (GRCm39)	F171L	probably benign	Het
Slc15a5	A	G	6: 138,050,064 (GRCm39)	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Slc8a3	T	A	12: 81,361,473 (GRCm39)	T449S	probably benign	Het
Smc2	G	A	4: 52,462,926 (GRCm39)	V639M	possibly damaging	Het
Sra1	A	T	18: 36,809,494 (GRCm39)	C223*	probably null	Het
Srgap1	A	T	10: 121,621,457 (GRCm39)	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,068,602 (GRCm39)		noncoding transcript	Het
Taar6	A	T	10: 23,861,106 (GRCm39)	S147T	probably benign	Het
Taf15	G	A	11: 83,375,637 (GRCm39)	G34D	possibly damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tob2	T	C	15: 81,735,924 (GRCm39)	Y15C	probably damaging	Het
Trim12a	A	G	7: 103,953,565 (GRCm39)	V182A	possibly damaging	Het
Trim67	A	G	8: 125,521,406 (GRCm39)	E256G	probably benign	Het
Trrap	T	A	5: 144,742,530 (GRCm39)	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,523,462 (GRCm39)	S40R	probably benign	Het
Ttn	A	T	2: 76,779,406 (GRCm39)	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,381,927 (GRCm39)	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,752,300 (GRCm39)	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,261,113 (GRCm39)	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Wdr27	A	T	17: 15,096,395 (GRCm39)	D796E	probably damaging	Het
Zfp365	C	T	10: 67,725,821 (GRCm39)		probably null	Het
Zfp9	T	G	6: 118,441,408 (GRCm39)	H418P	probably 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
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
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'- CAGCCACGAGCCTAAGTTAACTAT -3'
(R):5'- ACATGACCTTGAGATGACCCT -3'

Sequencing Primer
(F):5'- GCTTCCTGAGAAAGCTGA -3'
(R):5'- TGTTCAAGGACAGCCTGGTCTAAC -3'

Posted On

2016-04-27