Incidental Mutation 'R2270:Yme1l1'
| ID |
242371 |
| 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 |
040270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R2270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23065232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 247
(I247T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
| AlphaFold |
O88967 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028117
AA Change: I247T
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: I247T
| 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: ENSMUST00000148616
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,065,863 (GRCm39) |
R54W |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,171,108 (GRCm39) |
E614G |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,889,083 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,864,283 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
| Chat |
T |
C |
14: 32,176,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,982 (GRCm39) |
L144P |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Crip2 |
A |
C |
12: 113,108,486 (GRCm39) |
K62N |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,305,358 (GRCm39) |
L12Q |
probably damaging |
Het |
| Eftud2 |
T |
C |
11: 102,755,607 (GRCm39) |
N200S |
probably damaging |
Het |
| Fgfbp1 |
T |
A |
5: 44,136,672 (GRCm39) |
M207L |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garem2 |
T |
G |
5: 30,321,972 (GRCm39) |
L777R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpr143 |
T |
A |
X: 151,573,566 (GRCm39) |
V181E |
probably damaging |
Het |
| Gtf2f1 |
T |
C |
17: 57,310,462 (GRCm39) |
I498V |
probably null |
Het |
| Ipo4 |
A |
G |
14: 55,871,557 (GRCm39) |
L168P |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,599,293 (GRCm39) |
I415N |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,726,470 (GRCm39) |
E411G |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,387,269 (GRCm39) |
V106F |
probably benign |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,132 (GRCm39) |
N352K |
probably benign |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,115,019 (GRCm39) |
V515A |
probably benign |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Olfm4 |
C |
A |
14: 80,249,315 (GRCm39) |
T144K |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,494 (GRCm39) |
C193F |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Phf12 |
G |
T |
11: 77,875,001 (GRCm39) |
A76S |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,450,586 (GRCm39) |
D376Y |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,556,031 (GRCm39) |
V610A |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,368,512 (GRCm39) |
T2104A |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,291,749 (GRCm39) |
V252A |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,075 (GRCm39) |
S98P |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,561,837 (GRCm39) |
S248P |
unknown |
Het |
| Rnaseh2a |
T |
C |
8: 85,692,048 (GRCm39) |
E75G |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,717,406 (GRCm39) |
M292K |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,566,339 (GRCm39) |
L14R |
probably damaging |
Het |
| Slfn2 |
C |
T |
11: 82,960,761 (GRCm39) |
R247C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,708 (GRCm39) |
I1218M |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,569,587 (GRCm39) |
M1478T |
probably benign |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Znhit2 |
A |
G |
19: 6,111,261 (GRCm39) |
E2G |
probably damaging |
Het |
| Zpbp |
A |
T |
11: 11,368,272 (GRCm39) |
M133K |
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 |
|
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 |
|
|
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'- ACGTAGGGCTTCAGGCATG -3'
(R):5'- AACTAGCCACAGAAGTAGAATTTTG -3'
Sequencing Primer
(F):5'- GGGCTTCAGGCATGATAAATATTCC -3'
(R):5'- GTCAAACTAAATGAACCTCACTTCTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation