Incidental Mutation 'R4459:Letm2'
| ID |
330060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Letm2
|
| Ensembl Gene |
ENSMUSG00000037363 |
| Gene Name |
leucine zipper-EF-hand containing transmembrane protein 2 |
| Synonyms |
D030041N04Rik |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4459 (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 G
at 26076715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 296
(C296R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079160]
[ENSMUST00000210616]
[ENSMUST00000210810]
[ENSMUST00000211422]
|
| AlphaFold |
Q7TNU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079160
AA Change: C296R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
AA Change: C296R
| 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 |
probably benign
Transcript: ENSMUST00000210810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211133
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211001
|
| Meta Mutation Damage Score |
0.8912 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
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 |
|
|
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 |
|
|
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'- AAGCCATTCACTTTGCTGGC -3'
(R):5'- TGGATCCATTTCTATACCACACAG -3'
Sequencing Primer
(F):5'- TGCTGGCTGCCTCTCTGG -3'
(R):5'- AGAAAGTCTCTAATTCCTTCCACATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation