Incidental Mutation 'R3828:Tmem59l'
| ID |
273850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem59l
|
| Ensembl Gene |
ENSMUSG00000035964 |
| Gene Name |
transmembrane protein 59-like |
| Synonyms |
5330410G16Rik |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
159 |
|
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
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 |
|
R3725:Tmem59l
|
UTSW |
8 |
70,939,951 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- TCCAAGTCCGGTCAAAGAGC -3'
Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation