Incidental Mutation 'R0661:Yme1l1'
ID |
61823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Yme1l1
|
Ensembl Gene |
ENSMUSG00000026775 |
Gene Name |
YME1-like 1 (S. cerevisiae) |
Synonyms |
Ftsh, ATP-dependent metalloprotease FtsH1 |
MMRRC Submission |
038846-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R0661 (G1)
|
Quality Score |
126 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23081054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 442
(M442K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
AlphaFold |
O88967 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028117
AA Change: M442K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028117 Gene: ENSMUSG00000026775 AA Change: M442K
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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGCCTTGACTTATGACTTCTGACC -3'
(R):5'- CCCCAAACCAAATTTCCTTTGGAATCG -3'
Sequencing Primer
(F):5'- GACTTCTGACCTTCTGAGGGAAC -3'
(R):5'- acacacacacacacacacc -3'
|
Posted On |
2013-07-30 |