Incidental Mutation 'R6706:Letm2'
| ID |
528949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Letm2
|
| Ensembl Gene |
ENSMUSG00000037363 |
| Gene Name |
leucine zipper-EF-hand containing transmembrane protein 2 |
| Synonyms |
D030041N04Rik |
| MMRRC Submission |
044824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26068506-26087598 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26083977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 85
(H85Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079160]
[ENSMUST00000210234]
[ENSMUST00000210616]
[ENSMUST00000210810]
[ENSMUST00000211422]
|
| AlphaFold |
Q7TNU7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000059474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079160
AA Change: H85Y
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
AA Change: H85Y
| 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: ENSMUST00000209734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210234
AA Change: H85Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210616
AA Change: H85Y
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210810
AA Change: H85Y
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211422
AA Change: H85Y
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210321
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210914
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,479 (GRCm39) |
K389* |
probably null |
Het |
| Adam6a |
T |
G |
12: 113,508,886 (GRCm39) |
F420V |
probably benign |
Het |
| Alpl |
T |
C |
4: 137,473,740 (GRCm39) |
T321A |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,586,666 (GRCm39) |
D152G |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,578,173 (GRCm39) |
T207A |
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,304,972 (GRCm39) |
M1K |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,338 (GRCm39) |
L535Q |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,846,642 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,328 (GRCm39) |
|
probably null |
Het |
| Ctdnep1 |
A |
G |
11: 69,875,138 (GRCm39) |
N54S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,533,501 (GRCm39) |
D364E |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,735,615 (GRCm39) |
I1328V |
possibly damaging |
Het |
| Eno4 |
A |
T |
19: 58,959,112 (GRCm39) |
E411D |
probably benign |
Het |
| Fbxl14 |
A |
G |
6: 119,457,716 (GRCm39) |
Y299C |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,353,729 (GRCm39) |
S499G |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,458,147 (GRCm39) |
T771I |
possibly damaging |
Het |
| Kansl3 |
A |
G |
1: 36,383,995 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
A |
T |
4: 132,978,250 (GRCm39) |
K1031* |
probably null |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,413 (GRCm39) |
T37S |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,720 (GRCm39) |
V346D |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,217,359 (GRCm39) |
H98Y |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,835,549 (GRCm39) |
N443D |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,045,746 (GRCm39) |
D1637V |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,929 (GRCm39) |
V269E |
probably damaging |
Het |
| Or6z6 |
G |
A |
7: 6,491,049 (GRCm39) |
R275C |
probably damaging |
Het |
| Pank1 |
C |
T |
19: 34,789,786 (GRCm39) |
G530D |
probably damaging |
Het |
| Pde4dip |
G |
T |
3: 97,648,709 (GRCm39) |
R1036S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,578,357 (GRCm39) |
T247A |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,212,887 (GRCm39) |
I1067F |
unknown |
Het |
| Serpinb9d |
T |
A |
13: 33,380,541 (GRCm39) |
N142K |
probably benign |
Het |
| Slc12a5 |
A |
G |
2: 164,830,509 (GRCm39) |
Y639C |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,399,276 (GRCm39) |
M508V |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,478,962 (GRCm39) |
N147S |
probably benign |
Het |
| Togaram1 |
T |
A |
12: 65,049,383 (GRCm39) |
N1273K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
| Uggt2 |
T |
A |
14: 119,308,293 (GRCm39) |
I363F |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,578,001 (GRCm39) |
D179V |
probably 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 |
|
|
R5732:Letm2
|
UTSW |
8 |
26,077,341 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6527:Letm2
|
UTSW |
8 |
26,082,522 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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'- GTAGCCTCCACACTATTCTGGC -3'
(R):5'- TGCCTGGCCATTCTGTGTAC -3'
Sequencing Primer
(F):5'- GCAGCGACTTTGGTGTCAATCC -3'
(R):5'- GGCCATTCTGTGTACCCTTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation