Incidental Mutation 'R1201:Tmem59l'
ID |
101381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem59l
|
Ensembl Gene |
ENSMUSG00000035964 |
Gene Name |
transmembrane protein 59-like |
Synonyms |
5330410G16Rik |
MMRRC Submission |
039271-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R1201 (G1)
|
Quality Score |
201 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70936517-70940008 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 70937037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 310
(W310*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
AlphaFold |
Q7TNI2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045286
AA Change: W310*
|
SMART Domains |
Protein: ENSMUSP00000043659 Gene: ENSMUSG00000035964 AA Change: W310*
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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,546,626 (GRCm39) |
T103A |
possibly damaging |
Het |
Acly |
A |
G |
11: 100,384,761 (GRCm39) |
I674T |
probably damaging |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
Actc1 |
A |
G |
2: 113,879,994 (GRCm39) |
|
probably null |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Arhgap40 |
A |
C |
2: 158,376,689 (GRCm39) |
D275A |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,002,524 (GRCm39) |
S1490G |
probably benign |
Het |
Car11 |
A |
G |
7: 45,352,904 (GRCm39) |
D221G |
probably benign |
Het |
Catsperg1 |
A |
T |
7: 28,891,095 (GRCm39) |
H596Q |
possibly damaging |
Het |
Ccm2 |
T |
C |
11: 6,543,682 (GRCm39) |
V231A |
probably benign |
Het |
Crh |
A |
G |
3: 19,748,090 (GRCm39) |
I184T |
probably damaging |
Het |
Csgalnact2 |
A |
G |
6: 118,091,393 (GRCm39) |
S424P |
probably damaging |
Het |
Dbf4 |
A |
C |
5: 8,447,498 (GRCm39) |
L571V |
possibly damaging |
Het |
Fancm |
A |
G |
12: 65,153,542 (GRCm39) |
K66E |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,296,487 (GRCm39) |
V3672A |
probably benign |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Krt36 |
T |
C |
11: 99,994,883 (GRCm39) |
N230D |
probably benign |
Het |
Nlrp4b |
G |
T |
7: 10,449,363 (GRCm39) |
R522L |
possibly damaging |
Het |
Ntn1 |
T |
C |
11: 68,104,052 (GRCm39) |
D532G |
probably damaging |
Het |
Numb |
A |
T |
12: 83,848,059 (GRCm39) |
V215D |
probably damaging |
Het |
Or1x2 |
T |
A |
11: 50,917,937 (GRCm39) |
M36K |
probably damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,813 (GRCm39) |
W260R |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,226 (GRCm39) |
I282T |
probably damaging |
Het |
Or6b2b |
T |
G |
1: 92,418,875 (GRCm39) |
I201L |
probably benign |
Het |
Or7a39 |
A |
T |
10: 78,715,311 (GRCm39) |
M102L |
probably benign |
Het |
Otulinl |
G |
A |
15: 27,658,259 (GRCm39) |
Q84* |
probably null |
Het |
Pidd1 |
A |
G |
7: 141,020,187 (GRCm39) |
F580L |
probably benign |
Het |
Plekhg4 |
A |
G |
8: 106,108,305 (GRCm39) |
D1116G |
probably damaging |
Het |
Prss33 |
G |
T |
17: 24,054,084 (GRCm39) |
S74* |
probably null |
Het |
Rab34 |
T |
A |
11: 78,081,222 (GRCm39) |
|
probably null |
Het |
Rims2 |
A |
C |
15: 39,479,720 (GRCm39) |
T1251P |
possibly damaging |
Het |
Skint5 |
A |
G |
4: 113,413,342 (GRCm39) |
S1152P |
unknown |
Het |
Slc6a17 |
T |
A |
3: 107,400,388 (GRCm39) |
Q206L |
possibly damaging |
Het |
Tnrc6c |
T |
G |
11: 117,612,500 (GRCm39) |
N379K |
probably damaging |
Het |
Vmn1r76 |
A |
C |
7: 11,664,252 (GRCm39) |
F286V |
probably benign |
Het |
Xdh |
T |
C |
17: 74,225,413 (GRCm39) |
D463G |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
Zfp263 |
T |
A |
16: 3,567,294 (GRCm39) |
H536Q |
probably damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,736 (GRCm39) |
F602Y |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGAATGTCAATAAGCCAGCCCC -3'
(R):5'- TGAGTTGCTGCACTCTGGTCAC -3'
Sequencing Primer
(F):5'- CCACTTGTCTCAAGGGGACTAAG -3'
(R):5'- AAGGCTCTTTTGCCCCAA -3'
|
Posted On |
2014-01-15 |