Incidental Mutation 'IGL00327:Yme1l1'
| ID |
7269 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Yme1l1
|
| Ensembl Gene |
ENSMUSG00000026775 |
| Gene Name |
YME1-like 1 (S. cerevisiae) |
| Synonyms |
Ftsh, ATP-dependent metalloprotease FtsH1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL00327
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23082512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
| AlphaFold |
O88967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028117
AA Change: V501A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: V501A
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
313 |
450 |
4.77e-23 |
SMART |
|
Pfam:Peptidase_M41
|
508 |
706 |
5.8e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134342
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. [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 |
|---|
| Atg16l2 |
A |
G |
7: 100,949,367 (GRCm39) |
L60S |
probably damaging |
Het |
| Aup1 |
A |
G |
6: 83,033,390 (GRCm39) |
E267G |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,116,764 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,074,670 (GRCm39) |
Y484H |
probably benign |
Het |
| Colq |
C |
T |
14: 31,257,545 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,431,867 (GRCm39) |
D1242G |
possibly damaging |
Het |
| Dclre1c |
T |
A |
2: 3,434,821 (GRCm39) |
L95* |
probably null |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,383,610 (GRCm39) |
E94G |
probably damaging |
Het |
| Krt6b |
T |
G |
15: 101,588,267 (GRCm39) |
Q131P |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,926,265 (GRCm39) |
L414P |
probably damaging |
Het |
| Lrit2 |
T |
A |
14: 36,793,920 (GRCm39) |
M328K |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,813,197 (GRCm39) |
L22F |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,242,514 (GRCm39) |
D388G |
probably damaging |
Het |
| Mrpl44 |
C |
T |
1: 79,758,721 (GRCm39) |
L290F |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,421 (GRCm39) |
H160R |
probably damaging |
Het |
| Nlrc3 |
T |
C |
16: 3,773,030 (GRCm39) |
N109S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,040,700 (GRCm39) |
T553A |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,217,174 (GRCm39) |
T894K |
probably benign |
Het |
| Scgb2b27 |
A |
G |
7: 33,712,771 (GRCm39) |
C24R |
probably damaging |
Het |
| Sipa1l3 |
G |
T |
7: 29,053,558 (GRCm39) |
H140N |
probably damaging |
Het |
| Slc22a23 |
T |
G |
13: 34,489,228 (GRCm39) |
D219A |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 20,005,158 (GRCm39) |
Y557C |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,854,851 (GRCm39) |
I600N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,503,643 (GRCm39) |
N190S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,299,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Yme1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01764:Yme1l1
|
APN |
2 |
23,052,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03289:Yme1l1
|
APN |
2 |
23,050,280 (GRCm39) |
missense |
probably benign |
|
|
R0043:Yme1l1
|
UTSW |
2 |
23,077,815 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0540:Yme1l1
|
UTSW |
2 |
23,082,527 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0583:Yme1l1
|
UTSW |
2 |
23,076,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0661:Yme1l1
|
UTSW |
2 |
23,081,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0673:Yme1l1
|
UTSW |
2 |
23,058,300 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2154:Yme1l1
|
UTSW |
2 |
23,052,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2241:Yme1l1
|
UTSW |
2 |
23,086,912 (GRCm39) |
nonsense |
probably null |
|
|
R2270:Yme1l1
|
UTSW |
2 |
23,065,232 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2345:Yme1l1
|
UTSW |
2 |
23,084,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3837:Yme1l1
|
UTSW |
2 |
23,081,092 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4344:Yme1l1
|
UTSW |
2 |
23,063,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4368:Yme1l1
|
UTSW |
2 |
23,050,223 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4412:Yme1l1
|
UTSW |
2 |
23,065,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Yme1l1
|
UTSW |
2 |
23,076,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4472:Yme1l1
|
UTSW |
2 |
23,076,344 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4934:Yme1l1
|
UTSW |
2 |
23,058,333 (GRCm39) |
nonsense |
probably null |
|
|
R5033:Yme1l1
|
UTSW |
2 |
23,084,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Yme1l1
|
UTSW |
2 |
23,052,569 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5389:Yme1l1
|
UTSW |
2 |
23,083,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Yme1l1
|
UTSW |
2 |
23,058,342 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5947:Yme1l1
|
UTSW |
2 |
23,085,318 (GRCm39) |
intron |
probably benign |
|
|
R6243:Yme1l1
|
UTSW |
2 |
23,083,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6724:Yme1l1
|
UTSW |
2 |
23,084,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Yme1l1
|
UTSW |
2 |
23,085,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7016:Yme1l1
|
UTSW |
2 |
23,076,367 (GRCm39) |
splice site |
probably null |
|
|
R7565:Yme1l1
|
UTSW |
2 |
23,050,232 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7589:Yme1l1
|
UTSW |
2 |
23,050,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7751:Yme1l1
|
UTSW |
2 |
23,077,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7871:Yme1l1
|
UTSW |
2 |
23,071,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Yme1l1
|
UTSW |
2 |
23,084,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8203:Yme1l1
|
UTSW |
2 |
23,054,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Yme1l1
|
UTSW |
2 |
23,054,597 (GRCm39) |
nonsense |
probably null |
|
|
R8474:Yme1l1
|
UTSW |
2 |
23,052,584 (GRCm39) |
missense |
probably benign |
|
|
R8746:Yme1l1
|
UTSW |
2 |
23,052,543 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9154:Yme1l1
|
UTSW |
2 |
23,077,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Yme1l1
|
UTSW |
2 |
23,063,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Yme1l1
|
UTSW |
2 |
23,081,063 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Yme1l1
|
UTSW |
2 |
23,083,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Yme1l1
|
UTSW |
2 |
23,052,529 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Yme1l1
|
UTSW |
2 |
23,076,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-04-20 |
Incidental Mutation