Incidental Mutation 'R4641:Letmd1'
| ID |
351661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Letmd1
|
| Ensembl Gene |
ENSMUSG00000037353 |
| Gene Name |
LETM1 domain containing 1 |
| Synonyms |
HCCR1, 1110019O13Rik, HCCR-2 |
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
100366904-100377045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100375708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 198
(Y198C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037001]
[ENSMUST00000061457]
[ENSMUST00000229012]
[ENSMUST00000229648]
[ENSMUST00000230294]
|
| AlphaFold |
Q924L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037001
AA Change: Y355C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037546
Gene: ENSMUSG00000037353
AA Change: Y355C
| 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 damaging
Transcript: ENSMUST00000229648
AA Change: Y266C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230294
AA Change: Y198C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230579
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,258,178 (GRCm39) |
Y474C |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
|
IGL02486:Letmd1
|
APN |
15 |
100,372,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACACAAGCATGCTTTCAGGG -3'
(R):5'- GTTAGGCTCAAGCTGTGAAGG -3'
Sequencing Primer
(F):5'- CAAGCATGCTTTCAGGGTCTGG -3'
(R):5'- CTGTGAAGGAATGTCTATAGCTCCC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation