Incidental Mutation 'R5732:Letm2'
ID |
451494 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Letm2
|
Ensembl Gene |
ENSMUSG00000037363 |
Gene Name |
leucine zipper-EF-hand containing transmembrane protein 2 |
Synonyms |
D030041N04Rik |
MMRRC Submission |
043347-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5732 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
26068506-26087598 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26077341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 250
(S250A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079160]
[ENSMUST00000210616]
[ENSMUST00000210810]
[ENSMUST00000211422]
|
AlphaFold |
Q7TNU7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079160
AA Change: S250A
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000078160 Gene: ENSMUSG00000037363 AA Change: S250A
Domain | Start | End | E-Value | Type |
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
Pfam:LETM1
|
120 |
384 |
1.2e-102 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210321
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210616
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210810
AA Change: S250A
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211422
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211001
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly damaging |
Het |
|
Other mutations in Letm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02738:Letm2
|
APN |
8 |
26,076,789 (GRCm39) |
missense |
probably damaging |
1.00 |
selbstlob
|
UTSW |
8 |
26,083,977 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03098:Letm2
|
UTSW |
8 |
26,071,745 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0062:Letm2
|
UTSW |
8 |
26,077,464 (GRCm39) |
splice site |
probably benign |
|
R0062:Letm2
|
UTSW |
8 |
26,077,464 (GRCm39) |
splice site |
probably benign |
|
R0207:Letm2
|
UTSW |
8 |
26,068,786 (GRCm39) |
missense |
probably damaging |
0.96 |
R0485:Letm2
|
UTSW |
8 |
26,082,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Letm2
|
UTSW |
8 |
26,071,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R1870:Letm2
|
UTSW |
8 |
26,086,460 (GRCm39) |
splice site |
probably benign |
|
R1871:Letm2
|
UTSW |
8 |
26,086,460 (GRCm39) |
splice site |
probably benign |
|
R3881:Letm2
|
UTSW |
8 |
26,083,884 (GRCm39) |
nonsense |
probably null |
|
R4115:Letm2
|
UTSW |
8 |
26,070,343 (GRCm39) |
nonsense |
probably null |
|
R4459:Letm2
|
UTSW |
8 |
26,076,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R4461:Letm2
|
UTSW |
8 |
26,076,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Letm2
|
UTSW |
8 |
26,084,108 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5063:Letm2
|
UTSW |
8 |
26,071,795 (GRCm39) |
missense |
probably benign |
0.26 |
R5069:Letm2
|
UTSW |
8 |
26,083,980 (GRCm39) |
nonsense |
probably null |
|
R6527:Letm2
|
UTSW |
8 |
26,082,522 (GRCm39) |
utr 3 prime |
probably benign |
|
R6706:Letm2
|
UTSW |
8 |
26,083,977 (GRCm39) |
missense |
probably benign |
0.03 |
R7624:Letm2
|
UTSW |
8 |
26,082,553 (GRCm39) |
nonsense |
probably null |
|
R7968:Letm2
|
UTSW |
8 |
26,083,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R8272:Letm2
|
UTSW |
8 |
26,076,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Letm2
|
UTSW |
8 |
26,071,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R8456:Letm2
|
UTSW |
8 |
26,071,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R8481:Letm2
|
UTSW |
8 |
26,070,375 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9023:Letm2
|
UTSW |
8 |
26,077,236 (GRCm39) |
missense |
|
|
R9234:Letm2
|
UTSW |
8 |
26,084,102 (GRCm39) |
missense |
probably benign |
0.03 |
R9366:Letm2
|
UTSW |
8 |
26,084,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9636:Letm2
|
UTSW |
8 |
26,083,719 (GRCm39) |
missense |
probably benign |
0.33 |
R9690:Letm2
|
UTSW |
8 |
26,077,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGTTCAATGCCTAGTCC -3'
(R):5'- CGGGGATGAACCTTAGTGAG -3'
Sequencing Primer
(F):5'- GGGTTCAATGCCTAGTCCAAACC -3'
(R):5'- AGGAGGGAGTTATTTTTCTCAGTACC -3'
|
Posted On |
2017-01-03 |