Incidental Mutation 'IGL01764:Yme1l1'
| ID |
153635 |
| 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 # |
IGL01764
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23052556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 70
(I70T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
| AlphaFold |
O88967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028117
AA Change: I70T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: I70T
| 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: ENSMUST00000125004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149240
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
| BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
| Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
| Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
| Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Krba1 |
C |
T |
6: 48,392,770 (GRCm39) |
R895W |
probably benign |
Het |
| Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
| Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
| Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
| Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
| Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
| Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
| Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
| Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
| Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
| Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Yme1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Yme1l1
|
APN |
2 |
23,082,512 (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 |
2014-02-04 |
Incidental Mutation