Incidental Mutation 'R4412:Yme1l1'
ID |
327951 |
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 |
041135-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R4412 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23065199 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 236
(R236H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
|
AlphaFold |
O88967 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028117
AA Change: R236H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028117 Gene: ENSMUSG00000026775 AA Change: R236H
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
C |
15: 74,449,302 (GRCm39) |
|
probably benign |
Het |
Adprhl1 |
T |
C |
8: 13,296,114 (GRCm39) |
K144E |
probably benign |
Het |
Alpl |
A |
G |
4: 137,485,939 (GRCm39) |
I2T |
possibly damaging |
Het |
Chdh |
G |
T |
14: 29,753,672 (GRCm39) |
G194C |
probably damaging |
Het |
Cp |
A |
T |
3: 20,020,517 (GRCm39) |
D170V |
probably damaging |
Het |
Cpne9 |
A |
G |
6: 113,266,962 (GRCm39) |
K132E |
possibly damaging |
Het |
Cyp2b9 |
T |
G |
7: 25,897,868 (GRCm39) |
L224R |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 49,981,828 (GRCm39) |
N153S |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,964,509 (GRCm39) |
Y2423C |
probably damaging |
Het |
Dnajc14 |
G |
T |
10: 128,642,074 (GRCm39) |
|
probably benign |
Het |
Eipr1 |
A |
T |
12: 28,909,372 (GRCm39) |
D213V |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,476,636 (GRCm39) |
V1894A |
probably damaging |
Het |
Flrt2 |
G |
A |
12: 95,747,047 (GRCm39) |
V462I |
probably benign |
Het |
Gigyf2 |
A |
G |
1: 87,364,582 (GRCm39) |
E954G |
probably damaging |
Het |
Glis1 |
A |
G |
4: 107,491,915 (GRCm39) |
H593R |
probably damaging |
Het |
Gpr21 |
C |
G |
2: 37,407,444 (GRCm39) |
|
probably benign |
Het |
Gsdmc3 |
A |
G |
15: 63,738,645 (GRCm39) |
M139T |
probably benign |
Het |
Hydin |
C |
T |
8: 111,142,368 (GRCm39) |
T749I |
probably damaging |
Het |
Ilf3 |
C |
T |
9: 21,310,856 (GRCm39) |
P620S |
possibly damaging |
Het |
Khdc3 |
A |
G |
9: 73,010,156 (GRCm39) |
T71A |
possibly damaging |
Het |
Ms4a12 |
T |
C |
19: 11,207,807 (GRCm39) |
N33S |
probably benign |
Het |
Nisch |
A |
G |
14: 30,908,615 (GRCm39) |
|
probably benign |
Het |
Npr2 |
G |
A |
4: 43,644,150 (GRCm39) |
C593Y |
probably damaging |
Het |
Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
Or4c1 |
A |
G |
2: 89,133,684 (GRCm39) |
I84T |
probably benign |
Het |
Palld |
A |
G |
8: 62,140,406 (GRCm39) |
Y534H |
probably damaging |
Het |
Pcdhb10 |
TC |
T |
18: 37,547,194 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
A |
C |
12: 76,624,538 (GRCm39) |
T1127P |
probably damaging |
Het |
Podnl1 |
A |
T |
8: 84,857,294 (GRCm39) |
H301L |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,124,511 (GRCm39) |
V399A |
probably benign |
Het |
Rpp30 |
T |
A |
19: 36,077,655 (GRCm39) |
N172K |
possibly damaging |
Het |
Sin3b |
C |
T |
8: 73,466,407 (GRCm39) |
A291V |
probably benign |
Het |
Slc12a6 |
A |
T |
2: 112,166,233 (GRCm39) |
Q204L |
possibly damaging |
Het |
Snx9 |
C |
T |
17: 5,958,669 (GRCm39) |
T249M |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,104,423 (GRCm39) |
T264K |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,029,442 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,152,834 (GRCm39) |
H6674Q |
probably benign |
Het |
Tyw1 |
T |
A |
5: 130,364,073 (GRCm39) |
|
probably null |
Het |
Vmn1r115 |
C |
T |
7: 20,578,207 (GRCm39) |
R235K |
probably benign |
Het |
Vmn2r50 |
A |
C |
7: 9,784,235 (GRCm39) |
F80V |
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 |
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'- TTGTTCTCCTGAGGATTCAACG -3'
(R):5'- AACTAGCCACAGAAGTAGAATTTTG -3'
Sequencing Primer
(F):5'- ATTCAACGTAGGGCTTCAGGC -3'
(R):5'- GTCAAACTAAATGAACCTCACTTCTC -3'
|
Posted On |
2015-07-07 |