Incidental Mutation 'R4575:Ide'
| ID |
342430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ide
|
| Ensembl Gene |
ENSMUSG00000056999 |
| Gene Name |
insulin degrading enzyme |
| Synonyms |
4833415K22Rik, 1300012G03Rik |
| MMRRC Submission |
041798-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4575 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
37246142-37340010 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37249604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 916
(P916L)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000131070
AA Change: P916L
|
| SMART Domains |
Protein: ENSMUSP00000121358
Gene: ENSMUSG00000056999
AA Change: P916L
| 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: ENSMUST00000154339
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
C |
T |
7: 130,964,325 (GRCm39) |
A26T |
probably benign |
Het |
| 4930408O17Rik |
C |
A |
12: 104,837,527 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf3 |
T |
A |
5: 30,407,255 (GRCm39) |
M224L |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,240,475 (GRCm39) |
H129R |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,954,502 (GRCm39) |
Q547* |
probably null |
Het |
| Asb10 |
C |
T |
5: 24,745,052 (GRCm39) |
R99H |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,106,477 (GRCm39) |
V1001A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,643,419 (GRCm39) |
V475A |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,150,639 (GRCm39) |
L16Q |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,805 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2d22 |
G |
T |
15: 82,256,133 (GRCm39) |
A167E |
possibly damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,475,312 (GRCm39) |
K382R |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,823 (GRCm39) |
I362T |
possibly damaging |
Het |
| Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,254,896 (GRCm39) |
Q507R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,342,704 (GRCm39) |
T1666A |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,158,175 (GRCm39) |
T266I |
possibly damaging |
Het |
| Gm11563 |
G |
A |
11: 99,549,275 (GRCm39) |
P160S |
unknown |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,715,736 (GRCm39) |
V34A |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,777,599 (GRCm39) |
Y199H |
probably benign |
Het |
| Igsf10 |
G |
T |
3: 59,237,521 (GRCm39) |
H887N |
probably benign |
Het |
| Iigp1 |
A |
T |
18: 60,523,218 (GRCm39) |
H112L |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,082,095 (GRCm39) |
E1009G |
probably damaging |
Het |
| Khdc1a |
A |
C |
1: 21,420,653 (GRCm39) |
D91A |
probably damaging |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Krt1c |
T |
G |
15: 101,722,921 (GRCm39) |
D359A |
probably damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,725 (GRCm39) |
N96K |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,846,204 (GRCm39) |
D82G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,120,299 (GRCm39) |
I473V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,013,598 (GRCm39) |
D1108G |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,976 (GRCm39) |
C73* |
probably null |
Het |
| Or7g12 |
C |
A |
9: 18,900,001 (GRCm39) |
S239* |
probably null |
Het |
| Otop1 |
T |
C |
5: 38,457,065 (GRCm39) |
Y275H |
probably damaging |
Het |
| Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,950,988 (GRCm39) |
E1935G |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rfc4 |
T |
A |
16: 22,933,179 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,137,244 (GRCm39) |
A209E |
probably damaging |
Het |
| Sf1 |
T |
C |
19: 6,425,943 (GRCm39) |
|
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,679 (GRCm39) |
D148G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,524,390 (GRCm39) |
S864C |
unknown |
Het |
| Slc2a10 |
C |
G |
2: 165,358,241 (GRCm39) |
N455K |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,076,986 (GRCm39) |
I1673N |
probably benign |
Het |
| Sri |
G |
T |
5: 8,113,693 (GRCm39) |
G152W |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,272 (GRCm39) |
D19E |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
|
| Other mutations in Ide |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
|
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'- ACTGGGTTAGATCTGAGGCTC -3'
(R):5'- AAGTCTTGCTTGCCCTCTGG -3'
Sequencing Primer
(F):5'- CCCTGCAGCTGCTTTTGGAG -3'
(R):5'- TGCCCTCTGGAATCTTTTAGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation