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 |