Incidental Mutation 'R7589:Yme1l1'
| ID |
587296 |
| 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 |
045637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R7589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
23046517-23089272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23050274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 35
(T35I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028117]
[ENSMUST00000028119]
|
| AlphaFold |
O88967 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028117
AA Change: T35I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: T35I
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
313 |
450 |
4.77e-23 |
SMART |
|
Pfam:Peptidase_M41
|
508 |
706 |
5.8e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028119
|
| SMART Domains |
Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
34 |
194 |
2.6e-24 |
PFAM |
|
Pfam:Pkinase
|
34 |
200 |
2.3e-39 |
PFAM |
|
low complexity region
|
297 |
313 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
710 |
821 |
6.4e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
714 |
818 |
5.1e-6 |
PFAM |
|
S_TK_X
|
822 |
864 |
2.01e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
G |
7: 41,276,396 (GRCm39) |
C700G |
probably damaging |
Het |
| 4930486L24Rik |
T |
C |
13: 60,990,747 (GRCm39) |
K316E |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,846 (GRCm39) |
K2087* |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,433,144 (GRCm39) |
H1320Q |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,080,643 (GRCm39) |
R31W |
probably damaging |
Het |
| Asnsd1 |
G |
T |
1: 53,387,126 (GRCm39) |
A167E |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,780,547 (GRCm39) |
D409G |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,163,433 (GRCm39) |
E574D |
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,165 (GRCm39) |
Y626F |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,707 (GRCm39) |
R521Q |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,807,660 (GRCm39) |
F160L |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,997 (GRCm39) |
K209N |
possibly damaging |
Het |
| Gsdmc2 |
C |
A |
15: 63,696,892 (GRCm39) |
L426F |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,443,165 (GRCm39) |
D956G |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,558,965 (GRCm39) |
V248I |
probably benign |
Het |
| Klk10 |
T |
C |
7: 43,433,051 (GRCm39) |
V149A |
probably benign |
Het |
| Krt40 |
G |
T |
11: 99,430,983 (GRCm39) |
N255K |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,060,251 (GRCm39) |
Y1013* |
probably null |
Het |
| Mcur1 |
T |
C |
13: 43,705,101 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mzt1 |
T |
C |
14: 99,273,948 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Nkx1-2 |
T |
C |
7: 132,201,204 (GRCm39) |
I18V |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,408,960 (GRCm39) |
Q155L |
probably benign |
Het |
| Or1ad1 |
A |
T |
11: 50,875,857 (GRCm39) |
M110L |
probably damaging |
Het |
| Or4a2 |
A |
G |
2: 89,248,724 (GRCm39) |
V11A |
possibly damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,719 (GRCm39) |
K235E |
probably damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,998 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or9s15 |
G |
A |
1: 92,524,781 (GRCm39) |
R180H |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,786 (GRCm39) |
D146G |
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,162,903 (GRCm39) |
V455I |
probably benign |
Het |
| Rnf6 |
G |
A |
5: 146,148,239 (GRCm39) |
R260W |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,560,279 (GRCm39) |
N520S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,899,707 (GRCm39) |
M1320K |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,123 (GRCm39) |
T338A |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,815,890 (GRCm39) |
*693W |
probably null |
Het |
| Ttc8 |
A |
T |
12: 98,942,696 (GRCm39) |
D412V |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,275,046 (GRCm39) |
A1840S |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,688 (GRCm39) |
S137R |
|
Het |
| Vmn1r91 |
T |
A |
7: 19,835,802 (GRCm39) |
H240Q |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,634 (GRCm39) |
H729L |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,806,777 (GRCm39) |
V2094A |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,666,130 (GRCm39) |
N202K |
|
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 |
|
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'- CTCGCCATAATTTTGACATCTGGTG -3'
(R):5'- GCCAGAATTAGCTGCCTTTAATTAC -3'
Sequencing Primer
(F):5'- GGTGTACTTTTAACTGTTAACAGGTC -3'
(R):5'- GCTGCCTTTAATTACAAAGATAAGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation