Incidental Mutation 'IGL02486:Letmd1'
| ID |
295418 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Letmd1
|
| Ensembl Gene |
ENSMUSG00000037353 |
| Gene Name |
LETM1 domain containing 1 |
| Synonyms |
HCCR1, 1110019O13Rik, HCCR-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL02486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
100366904-100377045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100372992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 31
(R31G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037001]
[ENSMUST00000061457]
[ENSMUST00000229012]
[ENSMUST00000229648]
[ENSMUST00000230294]
|
| AlphaFold |
Q924L1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037001
AA Change: R188G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353
AA Change: R188G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LETM1
|
78 |
346 |
1.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061457
|
| SMART Domains |
Protein: ENSMUSP00000052144
Gene: ENSMUSG00000044636
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
40 |
N/A |
INTRINSIC |
|
Pfam:CSRNP_N
|
61 |
280 |
5e-106 |
PFAM |
|
low complexity region
|
330 |
349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229012
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229648
AA Change: R99G
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230294
AA Change: R31G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230339
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
| Abtb3 |
C |
A |
10: 85,476,419 (GRCm39) |
P900H |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
| Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,934,097 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
| Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
| Flcn |
C |
T |
11: 59,691,869 (GRCm39) |
W260* |
probably null |
Het |
| Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
| Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
| Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
| Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
| Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
| Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,925,844 (GRCm39) |
V603A |
possibly damaging |
Het |
| Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
| Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
| Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
| Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
| St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
| Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,318,352 (GRCm39) |
N841I |
probably damaging |
Het |
| Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
| Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
probably damaging |
Het |
|
| Other mutations in Letmd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Letmd1
|
APN |
15 |
100,369,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Letmd1
|
APN |
15 |
100,367,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02606:Letmd1
|
APN |
15 |
100,372,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Letmd1
|
APN |
15 |
100,367,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lass
|
UTSW |
15 |
100,370,423 (GRCm39) |
splice site |
probably null |
|
|
P0031:Letmd1
|
UTSW |
15 |
100,370,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Letmd1
|
UTSW |
15 |
100,374,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Letmd1
|
UTSW |
15 |
100,367,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Letmd1
|
UTSW |
15 |
100,370,423 (GRCm39) |
splice site |
probably null |
|
|
R1466:Letmd1
|
UTSW |
15 |
100,370,423 (GRCm39) |
splice site |
probably null |
|
|
R1584:Letmd1
|
UTSW |
15 |
100,370,423 (GRCm39) |
splice site |
probably null |
|
|
R4457:Letmd1
|
UTSW |
15 |
100,373,011 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4641:Letmd1
|
UTSW |
15 |
100,375,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Letmd1
|
UTSW |
15 |
100,367,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5463:Letmd1
|
UTSW |
15 |
100,367,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Letmd1
|
UTSW |
15 |
100,367,119 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8852:Letmd1
|
UTSW |
15 |
100,373,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
Y5407:Letmd1
|
UTSW |
15 |
100,373,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation