Incidental Mutation 'R8203:Yme1l1'
| ID |
635747 |
| 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 |
067626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23054538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 119
(R119H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
| AlphaFold |
O88967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028117
AA Change: R119H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: R119H
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
313 |
450 |
4.77e-23 |
SMART |
|
Pfam:Peptidase_M41
|
508 |
706 |
5.8e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,369 (GRCm39) |
I148T |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,776,414 (GRCm39) |
T307A |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,315,042 (GRCm39) |
D65G |
probably damaging |
Het |
| Aicda |
T |
C |
6: 122,538,076 (GRCm39) |
V78A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,257,579 (GRCm39) |
D1282G |
probably damaging |
Het |
| Atf7ip |
T |
C |
6: 136,583,781 (GRCm39) |
S1271P |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,802,469 (GRCm39) |
D537N |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,693,443 (GRCm39) |
S2017T |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,596,877 (GRCm39) |
Q493H |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,594,986 (GRCm39) |
Y1371N |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,588,831 (GRCm39) |
T1095A |
possibly damaging |
Het |
| Cxcr5 |
T |
C |
9: 44,425,451 (GRCm39) |
M69V |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,869,584 (GRCm39) |
V145E |
probably damaging |
Het |
| Ddx3y |
T |
C |
Y: 1,269,827 (GRCm39) |
E185G |
probably benign |
Het |
| Dgke |
G |
A |
11: 88,941,193 (GRCm39) |
A330V |
probably benign |
Het |
| Dyrk4 |
A |
G |
6: 126,871,797 (GRCm39) |
L157P |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,240,548 (GRCm39) |
S337R |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,789,916 (GRCm39) |
M805L |
possibly damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmn1 |
T |
A |
2: 113,355,620 (GRCm39) |
M785K |
unknown |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 56,423,008 (GRCm39) |
T230I |
possibly damaging |
Het |
| Gle1 |
A |
G |
2: 29,825,522 (GRCm39) |
D4G |
probably benign |
Het |
| Gm5468 |
T |
C |
15: 25,414,527 (GRCm39) |
S26P |
noncoding transcript |
Het |
| Igsf10 |
A |
T |
3: 59,236,254 (GRCm39) |
L1309Q |
probably benign |
Het |
| Lipf |
A |
G |
19: 33,944,283 (GRCm39) |
K164R |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,333 (GRCm39) |
T111K |
possibly damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,599 (GRCm39) |
T399A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,562,328 (GRCm39) |
I946V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,039,259 (GRCm39) |
K6927* |
probably null |
Het |
| Nipal4 |
A |
T |
11: 46,041,147 (GRCm39) |
D349E |
probably damaging |
Het |
| Or12j2 |
A |
T |
7: 139,915,939 (GRCm39) |
T55S |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,844 (GRCm39) |
I150F |
probably benign |
Het |
| Or7g22 |
A |
G |
9: 19,049,170 (GRCm39) |
N294D |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,006,676 (GRCm39) |
H154Q |
unknown |
Het |
| Polr2m |
T |
G |
9: 71,386,768 (GRCm39) |
M338L |
probably benign |
Het |
| Rab3gap2 |
T |
C |
1: 184,999,376 (GRCm39) |
L995P |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,705,179 (GRCm39) |
H694Q |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,670,524 (GRCm39) |
K23E |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,437,519 (GRCm39) |
Y245* |
probably null |
Het |
| Shpk |
A |
C |
11: 73,104,904 (GRCm39) |
D171A |
probably benign |
Het |
| Slc2a7 |
G |
T |
4: 150,243,015 (GRCm39) |
E279* |
probably null |
Het |
| Slco4a1 |
T |
C |
2: 180,106,592 (GRCm39) |
V258A |
probably damaging |
Het |
| Srcin1 |
G |
T |
11: 97,457,539 (GRCm39) |
P62Q |
probably damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,606,476 (GRCm39) |
F823S |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tdrd9 |
T |
A |
12: 111,992,064 (GRCm39) |
V613E |
probably damaging |
Het |
| Tsc1 |
A |
G |
2: 28,563,007 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
A |
T |
9: 120,997,274 (GRCm39) |
M766K |
probably damaging |
Het |
| Wdr36 |
G |
T |
18: 32,985,136 (GRCm39) |
G481* |
probably null |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
probably 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 |
|
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 |
|
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'- TGTCAGAGAAATAGTAACTTCACCA -3'
(R):5'- CTCAAAAGTTTACAAAGAAAGCTAGGC -3'
Sequencing Primer
(F):5'- TGATAGTGAAATGAGGAACTGTGAGC -3'
(R):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation