Incidental Mutation 'RF033:Tmem59'
| ID |
604445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem59
|
| Ensembl Gene |
ENSMUSG00000028618 |
| Gene Name |
transmembrane protein 59 |
| Synonyms |
1110001M20Rik, 3110046P06Rik, D4Ertd20e, MTDCF1, thymic dendritic cell-derived factor 1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
RF033 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
107035827-107058193 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
TGTTT to TGTTTGTTGGTTT
at 107047725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030361]
[ENSMUST00000106753]
[ENSMUST00000128123]
[ENSMUST00000154007]
|
| AlphaFold |
Q9QY73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030361
|
| SMART Domains |
Protein: ENSMUSP00000030361
Gene: ENSMUSG00000028618
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:BSMAP
|
72 |
256 |
1.1e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106753
|
| SMART Domains |
Protein: ENSMUSP00000102364
Gene: ENSMUSG00000028618
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BSMAP
|
32 |
189 |
2.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128123
|
| SMART Domains |
Protein: ENSMUSP00000120288
Gene: ENSMUSG00000028618
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BSMAP
|
18 |
127 |
1.7e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154007
|
| SMART Domains |
Protein: ENSMUSP00000119701
Gene: ENSMUSG00000028618
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele display reduced dendritic arborization, reduced miniature excitatory postsynaptic currents, and impaired memory formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGTCG |
19: 5,475,252 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGG |
GGGGGGG |
17: 5,045,860 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CCCGGGCACT |
C |
8: 21,433,904 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTG |
GTGAGTGTGCTGATG |
5: 110,525,991 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,607 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,629 (GRCm39) |
|
probably benign |
Het |
| Gm47955 |
TGG |
TGGTTGTGGCGG |
1: 82,938,246 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,025 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTCTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Heatr3 |
TTAT |
TTATGTAT |
8: 88,883,084 (GRCm39) |
|
probably benign |
Het |
| Il2 |
AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 37,179,913 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGGAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTTCAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Luzp1 |
A |
AGGTGTCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCA |
GCATCA |
X: 70,162,439 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCGAGCTCCAGCTCCAGCTCCA |
2: 121,136,780 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,408 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CG |
CGCCGCTG |
X: 98,864,979 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTG |
GGGGACTTGTCCTCACCTGGGACTTG |
11: 4,891,029 (GRCm39) |
|
probably null |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GCAAGCTGAGA |
GCAAGCTGAGATACACGTTAGCAGTGAGGTTCAAGCTGAGA |
2: 119,458,081 (GRCm39) |
|
probably benign |
Het |
| P4ha3 |
GGGGG |
GGGGGG |
7: 99,960,017 (GRCm39) |
|
probably null |
Het |
| Pdia4 |
ATCCTCTTCCTC |
ATC |
6: 47,785,222 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTT |
TTTTTTTTTTCTT |
15: 44,421,902 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
TTG |
TTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,002 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TG |
TGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,003 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
G |
GTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,938,004 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
GTATTG |
GTATTGTGGGACCAGGTATTGCGGGACCAGGTATTG |
2: 155,937,999 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
TATTG |
TATTGTGGGACCAGGTATTGCGGGACCAGGCATTG |
2: 155,938,000 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAC |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem59 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02663:Tmem59
|
APN |
4 |
107,054,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Tmem59
|
APN |
4 |
107,050,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02699:Tmem59
|
APN |
4 |
107,049,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02937:Tmem59
|
APN |
4 |
107,054,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0945:Tmem59
|
UTSW |
4 |
107,044,922 (GRCm39) |
splice site |
probably benign |
|
|
R2080:Tmem59
|
UTSW |
4 |
107,035,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4621:Tmem59
|
UTSW |
4 |
107,047,915 (GRCm39) |
intron |
probably benign |
|
|
R4622:Tmem59
|
UTSW |
4 |
107,047,915 (GRCm39) |
intron |
probably benign |
|
|
R4623:Tmem59
|
UTSW |
4 |
107,047,915 (GRCm39) |
intron |
probably benign |
|
|
R4819:Tmem59
|
UTSW |
4 |
107,044,878 (GRCm39) |
nonsense |
probably null |
|
|
R5413:Tmem59
|
UTSW |
4 |
107,057,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5866:Tmem59
|
UTSW |
4 |
107,047,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6073:Tmem59
|
UTSW |
4 |
107,050,598 (GRCm39) |
splice site |
probably null |
|
|
R8534:Tmem59
|
UTSW |
4 |
107,043,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9727:Tmem59
|
UTSW |
4 |
107,050,547 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF031:Tmem59
|
UTSW |
4 |
107,047,729 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF035:Tmem59
|
UTSW |
4 |
107,047,729 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF040:Tmem59
|
UTSW |
4 |
107,047,723 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF041:Tmem59
|
UTSW |
4 |
107,047,729 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF044:Tmem59
|
UTSW |
4 |
107,047,729 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF060:Tmem59
|
UTSW |
4 |
107,047,723 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGGTACTCAAATTCACC -3'
(R):5'- TGCCAAGACCCTCATGTAAG -3'
Sequencing Primer
(F):5'- GGTACTCAAATTCACCAAACACTTTC -3'
(R):5'- GTAAGACATGACATTGACTATTGCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation