Incidental Mutation 'S24628:Letm1'
| ID |
385651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Letm1
|
| Ensembl Gene |
ENSMUSG00000005299 |
| Gene Name |
leucine zipper-EF-hand containing transmembrane protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
S24628 ()
of strain
waterfowl
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
33739673-33782817 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33747444 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 513
(P513S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005431]
|
| AlphaFold |
Q9Z2I0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005431
AA Change: P513S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
AA Change: P513S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
|
Pfam:LETM1
|
152 |
417 |
1.2e-111 |
PFAM |
|
coiled coil region
|
445 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
513 |
N/A |
INTRINSIC |
|
coiled coil region
|
537 |
598 |
N/A |
INTRINSIC |
|
SCOP:d1c7va_
|
647 |
691 |
4e-3 |
SMART |
|
coiled coil region
|
708 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149886
|
| Coding Region Coverage |
- 1x: 98.1%
- 3x: 97.0%
- 10x: 94.3%
- 20x: 88.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality prior to E6.5 while ~50% of heterozygotes die before E13.5. Surviving heterozygous mice show altered glucose metabolism, impaired control of brain ATP levels, and increased susceptibility to kainic acid-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
G |
A |
17: 55,852,288 (GRCm38) |
V658I |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,232,118 (GRCm38) |
Y249H |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 (GRCm38) |
T223S |
unknown |
Homo |
| Gbp4 |
G |
A |
5: 105,121,106 (GRCm38) |
R394C |
possibly damaging |
Het |
| Gpr183 |
C |
A |
14: 121,954,476 (GRCm38) |
C211F |
probably damaging |
Homo |
| Lcp1 |
A |
T |
14: 75,227,006 (GRCm38) |
I556F |
possibly damaging |
Het |
| Msh3 |
A |
G |
13: 92,346,786 (GRCm38) |
V283A |
possibly damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,307,567 (GRCm38) |
E170D |
probably benign |
Het |
| Npr3 |
C |
A |
15: 11,848,563 (GRCm38) |
M439I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,887,438 (GRCm38) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 86,047,055 (GRCm38) |
H191L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm38) |
A120V |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,337,499 (GRCm38) |
Y609C |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,357,336 (GRCm38) |
H104Y |
probably benign |
Homo |
| Rnf213 |
A |
T |
11: 119,414,469 (GRCm38) |
I509F |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,869,156 (GRCm38) |
S213G |
probably damaging |
Homo |
| Spint1 |
A |
G |
2: 119,245,615 (GRCm38) |
T231A |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,444,500 (GRCm38) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,679,973 (GRCm38) |
S573A |
probably benign |
Het |
| Tmem43 |
C |
A |
6: 91,482,318 (GRCm38) |
P257Q |
probably benign |
Homo |
| Tmprss13 |
A |
G |
9: 45,337,132 (GRCm38) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 64,018,012 (GRCm38) |
G229D |
probably damaging |
Homo |
| Ugt1a10 |
TTCATCA |
TTCA |
1: 88,216,158 (GRCm38) |
|
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,293,836 (GRCm38) |
V215D |
probably damaging |
Homo |
| Vmn1r22 |
G |
T |
6: 57,900,332 (GRCm38) |
T220K |
probably benign |
Homo |
| Vmn2r116 |
G |
A |
17: 23,387,279 (GRCm38) |
M388I |
possibly damaging |
Het |
| Zap70 |
A |
G |
1: 36,770,811 (GRCm38) |
M1V |
probably null |
Homo |
| Zfp282 |
A |
G |
6: 47,897,881 (GRCm38) |
D340G |
probably damaging |
Homo |
| Zfp282 |
T |
A |
6: 47,905,053 (GRCm38) |
I558N |
possibly damaging |
Homo |
|
| Other mutations in Letm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01013:Letm1
|
APN |
5 |
33,762,590 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01073:Letm1
|
APN |
5 |
33,748,800 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL01882:Letm1
|
APN |
5 |
33,769,665 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02186:Letm1
|
APN |
5 |
33,745,047 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02699:Letm1
|
APN |
5 |
33,745,148 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03089:Letm1
|
APN |
5 |
33,760,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0466:Letm1
|
UTSW |
5 |
33,761,730 (GRCm38) |
splice site |
probably benign |
|
|
R0639:Letm1
|
UTSW |
5 |
33,769,426 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1370:Letm1
|
UTSW |
5 |
33,778,682 (GRCm38) |
splice site |
probably null |
|
|
R1415:Letm1
|
UTSW |
5 |
33,769,562 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1511:Letm1
|
UTSW |
5 |
33,752,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1714:Letm1
|
UTSW |
5 |
33,760,884 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1771:Letm1
|
UTSW |
5 |
33,769,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1990:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R1991:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R2143:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R2145:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R2202:Letm1
|
UTSW |
5 |
33,769,486 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R2290:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R2292:Letm1
|
UTSW |
5 |
33,769,515 (GRCm38) |
frame shift |
probably null |
|
|
R5574:Letm1
|
UTSW |
5 |
33,769,386 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6954:Letm1
|
UTSW |
5 |
33,782,507 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7265:Letm1
|
UTSW |
5 |
33,778,648 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8713:Letm1
|
UTSW |
5 |
33,762,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9028:Letm1
|
UTSW |
5 |
33,752,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9061:Letm1
|
UTSW |
5 |
33,760,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9420:Letm1
|
UTSW |
5 |
33,769,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
S24628:Letm1
|
UTSW |
5 |
33,747,446 (GRCm38) |
missense |
probably benign |
|
|
X0066:Letm1
|
UTSW |
5 |
33,762,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCAACCCTGGATGAAGG -3'
(R):5'- TCACTGCAGAGTATTCCAAGTG -3'
Sequencing Primer
(F):5'- TCACTGTGTAAACCAGGCTG -3'
(R):5'- CTGCAGAGTATTCCAAGTGTGACC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation