Incidental Mutation 'IGL01479:Tmem59l'
| ID |
88539 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem59l
|
| Ensembl Gene |
ENSMUSG00000035964 |
| Gene Name |
transmembrane protein 59-like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70483867-70487358 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70486098 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 111
(R111Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
| AlphaFold |
Q7TNI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045286
AA Change: R111Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: R111Q
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,272,935 (GRCm38) |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,271,793 (GRCm38) |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,912,603 (GRCm38) |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,728,639 (GRCm38) |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,144,993 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,955,717 (GRCm38) |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 85,553,951 (GRCm38) |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,757,893 (GRCm38) |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,952,289 (GRCm38) |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,792,372 (GRCm38) |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,660,736 (GRCm38) |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,926,820 (GRCm38) |
|
probably benign |
Het |
| Hps5 |
C |
T |
7: 46,762,942 (GRCm38) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,343,501 (GRCm38) |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,676,392 (GRCm38) |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,783,832 (GRCm38) |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 146,175,652 (GRCm38) |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,359,342 (GRCm38) |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,865,202 (GRCm38) |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,265,342 (GRCm38) |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,752,357 (GRCm38) |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,963,378 (GRCm38) |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,199 (GRCm38) |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 78,905,576 (GRCm38) |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,659,522 (GRCm38) |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,541,623 (GRCm38) |
Q204* |
probably null |
Het |
| Vmn2r95 |
G |
A |
17: 18,443,862 (GRCm38) |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,951,679 (GRCm38) |
H49R |
probably damaging |
Het |
|
| Other mutations in Tmem59l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Tmem59l
|
APN |
8 |
70,485,665 (GRCm38) |
splice site |
probably benign |
|
|
IGL01783:Tmem59l
|
APN |
8 |
70,487,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01998:Tmem59l
|
APN |
8 |
70,484,781 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0973:Tmem59l
|
UTSW |
8 |
70,486,060 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0973:Tmem59l
|
UTSW |
8 |
70,486,060 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0974:Tmem59l
|
UTSW |
8 |
70,486,060 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1201:Tmem59l
|
UTSW |
8 |
70,484,387 (GRCm38) |
nonsense |
probably null |
|
|
R1540:Tmem59l
|
UTSW |
8 |
70,485,154 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1775:Tmem59l
|
UTSW |
8 |
70,486,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2217:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R2238:Tmem59l
|
UTSW |
8 |
70,485,122 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2313:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R2315:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R2969:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R2970:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3011:Tmem59l
|
UTSW |
8 |
70,486,237 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3725:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3726:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3774:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3775:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3826:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3827:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3828:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3829:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3851:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3943:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R3944:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R4064:Tmem59l
|
UTSW |
8 |
70,485,719 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4409:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R4410:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R4422:Tmem59l
|
UTSW |
8 |
70,486,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4470:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R4471:Tmem59l
|
UTSW |
8 |
70,487,301 (GRCm38) |
missense |
unknown |
|
|
R4767:Tmem59l
|
UTSW |
8 |
70,486,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5321:Tmem59l
|
UTSW |
8 |
70,487,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6130:Tmem59l
|
UTSW |
8 |
70,484,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6527:Tmem59l
|
UTSW |
8 |
70,486,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6603:Tmem59l
|
UTSW |
8 |
70,486,356 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6750:Tmem59l
|
UTSW |
8 |
70,486,372 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7542:Tmem59l
|
UTSW |
8 |
70,485,164 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8265:Tmem59l
|
UTSW |
8 |
70,485,776 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9320:Tmem59l
|
UTSW |
8 |
70,485,172 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2013-11-18 |
Incidental Mutation