Incidental Mutation 'R2241:Yme1l1'
| ID |
240650 |
| 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 |
040241-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 23086912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 673
(R673*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
| AlphaFold |
O88967 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028117
AA Change: R673*
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: R673*
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
G |
T |
15: 64,571,230 (GRCm39) |
L1138I |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,328 (GRCm39) |
D427G |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,834,302 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
T |
3: 144,616,987 (GRCm39) |
S888T |
probably benign |
Het |
| Cyb5b |
A |
G |
8: 107,897,045 (GRCm39) |
D105G |
probably benign |
Het |
| Ddx20 |
A |
C |
3: 105,590,521 (GRCm39) |
Y258* |
probably null |
Het |
| Farp2 |
C |
T |
1: 93,507,625 (GRCm39) |
T441I |
probably benign |
Het |
| Fzd6 |
G |
T |
15: 38,894,931 (GRCm39) |
A366S |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,511,474 (GRCm39) |
V175A |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,131,357 (GRCm39) |
I575N |
probably damaging |
Het |
| Kcnj14 |
C |
T |
7: 45,469,325 (GRCm39) |
R60H |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,816,211 (GRCm39) |
T151A |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mterf2 |
T |
C |
10: 84,956,180 (GRCm39) |
N148S |
possibly damaging |
Het |
| Nae1 |
A |
C |
8: 105,246,420 (GRCm39) |
D268E |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,040 (GRCm39) |
V83A |
possibly damaging |
Het |
| Or6c211 |
G |
A |
10: 129,505,764 (GRCm39) |
T208I |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,493,101 (GRCm39) |
H176R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,928 (GRCm39) |
L916P |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,100,456 (GRCm39) |
Y1987N |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,631,737 (GRCm39) |
L2096P |
probably damaging |
Het |
| Serpina3m |
G |
A |
12: 104,355,708 (GRCm39) |
S125N |
probably benign |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,795,468 (GRCm39) |
N2091K |
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 |
|
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 |
|
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'- AAGGCAAAGGCTCTTTTGAAAC -3'
(R):5'- TGTTGCAAAGGAGACTGCAG -3'
Sequencing Primer
(F):5'- GGCAAAGGCTCTTTTGAAACATTTTC -3'
(R):5'- GGAGACTGCAGGACTAAGTATATTC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation