Incidental Mutation 'IGL01998:Tmem59l'
ID |
182950 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem59l
|
Ensembl Gene |
ENSMUSG00000035964 |
Gene Name |
transmembrane protein 59-like |
Synonyms |
5330410G16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL01998
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70936517-70940008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70937431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 239
(V239I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
AlphaFold |
Q7TNI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045286
AA Change: V239I
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000043659 Gene: ENSMUSG00000035964 AA Change: V239I
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,841,722 (GRCm39) |
E256G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,435,622 (GRCm39) |
L233Q |
probably damaging |
Het |
Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
Drc7 |
T |
A |
8: 95,785,821 (GRCm39) |
C226S |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,353 (GRCm39) |
I708N |
probably damaging |
Het |
Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
Strbp |
A |
G |
2: 37,515,297 (GRCm39) |
L243P |
probably damaging |
Het |
Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
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 |
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 |
|
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 |
|
Posted On |
2014-05-07 |