Incidental Mutation 'IGL01696:Immp2l'
| ID |
104287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Immp2l
|
| Ensembl Gene |
ENSMUSG00000056899 |
| Gene Name |
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
| Synonyms |
IMP2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
41074089-42002371 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 41675590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 95
(A95S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000132121]
[ENSMUST00000134965]
|
| AlphaFold |
Q8BPT6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132121
AA Change: A95S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118779
Gene: ENSMUSG00000056899
AA Change: A95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S24
|
38 |
115 |
7.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134965
AA Change: A95S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116441
Gene: ENSMUSG00000056899
AA Change: A95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_S24
|
38 |
114 |
6.4e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit reduced fertility, abnormal cellular respiration, and decreased body weight. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
A |
G |
5: 121,638,856 (GRCm39) |
S730P |
possibly damaging |
Het |
| Ano3 |
T |
G |
2: 110,498,082 (GRCm39) |
D753A |
probably damaging |
Het |
| Apoc4 |
C |
T |
7: 19,412,109 (GRCm39) |
C113Y |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,471,202 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,573,815 (GRCm39) |
T459A |
possibly damaging |
Het |
| Ccdc190 |
A |
C |
1: 169,761,393 (GRCm39) |
K165T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,567,128 (GRCm39) |
V1185A |
probably benign |
Het |
| Ednrb |
C |
T |
14: 104,060,625 (GRCm39) |
V223I |
probably benign |
Het |
| Ermp1 |
T |
C |
19: 29,623,538 (GRCm39) |
I151V |
possibly damaging |
Het |
| Gm15737 |
T |
A |
6: 92,856,802 (GRCm39) |
|
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,837,371 (GRCm39) |
H348R |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,425,997 (GRCm39) |
Y928C |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,680 (GRCm39) |
H210R |
probably benign |
Het |
| Or1l4 |
A |
G |
2: 37,091,523 (GRCm39) |
E90G |
probably benign |
Het |
| Or7g17 |
A |
T |
9: 18,768,352 (GRCm39) |
I135L |
probably benign |
Het |
| Or8c15 |
A |
C |
9: 38,120,345 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,783,126 (GRCm39) |
S731R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,747 (GRCm39) |
M1694T |
possibly damaging |
Het |
| Pld2 |
C |
A |
11: 70,433,606 (GRCm39) |
R212S |
probably damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,355,793 (GRCm39) |
F4L |
probably benign |
Het |
| Rps6ka6 |
T |
C |
X: 110,317,214 (GRCm39) |
Q634R |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,671,822 (GRCm39) |
E378G |
probably benign |
Het |
| Tmem184b |
T |
C |
15: 79,262,729 (GRCm39) |
T43A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,577,132 (GRCm39) |
V24587A |
probably damaging |
Het |
| Uba7 |
T |
A |
9: 107,854,547 (GRCm39) |
L262Q |
probably damaging |
Het |
| Zfp954 |
G |
T |
7: 7,118,397 (GRCm39) |
H382Q |
probably damaging |
Het |
|
| Other mutations in Immp2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01673:Immp2l
|
APN |
12 |
41,118,320 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03082:Immp2l
|
APN |
12 |
41,160,900 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
imp
|
UTSW |
12 |
41,160,846 (GRCm39) |
nonsense |
probably null |
|
|
R1583:Immp2l
|
UTSW |
12 |
41,750,548 (GRCm39) |
splice site |
probably benign |
|
|
R1636:Immp2l
|
UTSW |
12 |
41,750,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Immp2l
|
UTSW |
12 |
41,160,846 (GRCm39) |
nonsense |
probably null |
|
|
R3405:Immp2l
|
UTSW |
12 |
41,160,846 (GRCm39) |
nonsense |
probably null |
|
|
R7238:Immp2l
|
UTSW |
12 |
41,160,915 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9614:Immp2l
|
UTSW |
12 |
41,160,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation