Incidental Mutation 'R3725:Tmem59l'
| ID |
270736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem59l
|
| Ensembl Gene |
ENSMUSG00000035964 |
| Gene Name |
transmembrane protein 59-like |
| Synonyms |
5330410G16Rik |
| MMRRC Submission |
040716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3725 (G1)
|
| Quality Score |
139 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70936517-70940008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70939951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 6
(L6S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
| AlphaFold |
Q7TNI2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000045286
AA Change: L6S
|
| SMART Domains |
Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: L6S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
60 |
N/A |
INTRINSIC |
|
Pfam:BSMAP
|
72 |
278 |
1e-67 |
PFAM |
|
low complexity region
|
311 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211264
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
96% (55/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
T |
A |
7: 139,563,781 (GRCm39) |
R740S |
possibly damaging |
Het |
| Adamtsl3 |
A |
C |
7: 82,261,612 (GRCm39) |
D1676A |
possibly damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,922,120 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
T |
C |
8: 3,653,785 (GRCm39) |
L485P |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,515,838 (GRCm39) |
F614I |
possibly damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,153,674 (GRCm39) |
K1716N |
possibly damaging |
Het |
| Cfap47 |
T |
A |
X: 78,553,621 (GRCm39) |
T285S |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,014,234 (GRCm39) |
M1197V |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,802,810 (GRCm39) |
F228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,864 (GRCm39) |
M575T |
probably benign |
Het |
| Dhx36 |
A |
T |
3: 62,395,643 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,301,053 (GRCm39) |
I1554L |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,378,665 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,381,594 (GRCm39) |
S2181G |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,060,894 (GRCm39) |
I1959T |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,096,515 (GRCm39) |
K77* |
probably null |
Het |
| Fam209 |
T |
C |
2: 172,315,915 (GRCm39) |
S97P |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Fzd5 |
A |
G |
1: 64,775,498 (GRCm39) |
S88P |
probably damaging |
Het |
| Galnt12 |
A |
T |
4: 47,104,140 (GRCm39) |
T133S |
probably damaging |
Het |
| Gja8 |
A |
G |
3: 96,827,161 (GRCm39) |
L167P |
probably damaging |
Het |
| Gm8730 |
T |
C |
8: 103,591,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmd |
A |
G |
15: 75,737,939 (GRCm39) |
D247G |
probably benign |
Het |
| Iqcg |
A |
G |
16: 32,840,909 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
C |
T |
12: 31,371,074 (GRCm39) |
A1375V |
probably null |
Het |
| Mlip |
A |
G |
9: 77,097,662 (GRCm39) |
S282P |
probably damaging |
Het |
| Nfxl1 |
A |
T |
5: 72,674,405 (GRCm39) |
D831E |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,325,145 (GRCm39) |
D2506G |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,558,984 (GRCm39) |
V143D |
probably damaging |
Het |
| Or7a39 |
T |
A |
10: 78,715,766 (GRCm39) |
Y253* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,654 (GRCm39) |
L216P |
possibly damaging |
Het |
| Pigc |
G |
A |
1: 161,798,860 (GRCm39) |
G281R |
possibly damaging |
Het |
| Polr3g |
C |
T |
13: 81,842,754 (GRCm39) |
R87H |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,241,449 (GRCm39) |
D502G |
probably benign |
Het |
| Psg18 |
T |
A |
7: 18,088,748 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,247,694 (GRCm39) |
R179C |
probably damaging |
Het |
| Rxra |
A |
G |
2: 27,644,289 (GRCm39) |
D327G |
probably damaging |
Het |
| Samd7 |
T |
C |
3: 30,805,283 (GRCm39) |
V22A |
possibly damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,973 (GRCm39) |
V22D |
possibly damaging |
Het |
| Slmap |
C |
A |
14: 26,148,397 (GRCm39) |
R671S |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,755 (GRCm39) |
F751S |
possibly damaging |
Het |
| Smarcb1 |
T |
A |
10: 75,752,620 (GRCm39) |
K73N |
probably benign |
Het |
| Sptssa |
T |
C |
12: 54,703,180 (GRCm39) |
E30G |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 139,023,238 (GRCm39) |
K418R |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,640,538 (GRCm39) |
I200V |
probably benign |
Het |
| Tmem19 |
A |
G |
10: 115,195,675 (GRCm39) |
|
probably benign |
Het |
| Tmod1 |
T |
C |
4: 46,097,026 (GRCm39) |
V273A |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,221,588 (GRCm39) |
L43* |
probably null |
Het |
| Vmn1r205 |
A |
T |
13: 22,776,671 (GRCm39) |
F144I |
probably damaging |
Het |
| Vmn2r54 |
G |
A |
7: 12,366,223 (GRCm39) |
T237I |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,632,412 (GRCm39) |
F17I |
possibly damaging |
Het |
| Vpreb3 |
G |
A |
10: 75,779,125 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
A |
4: 144,842,218 (GRCm39) |
|
probably benign |
Het |
| Zkscan5 |
A |
T |
5: 145,157,723 (GRCm39) |
R742W |
probably damaging |
Het |
|
| Other mutations in Tmem59l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Tmem59l
|
APN |
8 |
70,938,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL01479:Tmem59l
|
APN |
8 |
70,938,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01783:Tmem59l
|
APN |
8 |
70,939,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Tmem59l
|
APN |
8 |
70,937,431 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0973:Tmem59l
|
UTSW |
8 |
70,938,710 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0973:Tmem59l
|
UTSW |
8 |
70,938,710 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0974:Tmem59l
|
UTSW |
8 |
70,938,710 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1201:Tmem59l
|
UTSW |
8 |
70,937,037 (GRCm39) |
nonsense |
probably null |
|
|
R1540:Tmem59l
|
UTSW |
8 |
70,937,804 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1775:Tmem59l
|
UTSW |
8 |
70,938,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R2238:Tmem59l
|
UTSW |
8 |
70,937,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2313:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R2315:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R2969:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R2970:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3011:Tmem59l
|
UTSW |
8 |
70,938,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3774:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3775:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3826:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3827:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3828:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3829:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3851:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3943:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R3944:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R4064:Tmem59l
|
UTSW |
8 |
70,938,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R4410:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R4422:Tmem59l
|
UTSW |
8 |
70,938,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4470:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R4471:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
R4767:Tmem59l
|
UTSW |
8 |
70,938,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5321:Tmem59l
|
UTSW |
8 |
70,939,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Tmem59l
|
UTSW |
8 |
70,937,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6527:Tmem59l
|
UTSW |
8 |
70,938,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Tmem59l
|
UTSW |
8 |
70,939,006 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6750:Tmem59l
|
UTSW |
8 |
70,939,022 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7542:Tmem59l
|
UTSW |
8 |
70,937,814 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8265:Tmem59l
|
UTSW |
8 |
70,938,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9320:Tmem59l
|
UTSW |
8 |
70,937,822 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATCTGAGGGTCCTACAC -3'
(R):5'- GATCCAAGTCCGGTCAAAGAGC -3'
Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation