Incidental Mutation 'R3851:Tmem59l'
| ID |
275925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem59l
|
| Ensembl Gene |
ENSMUSG00000035964 |
| Gene Name |
transmembrane protein 59-like |
| Synonyms |
5330410G16Rik |
| MMRRC Submission |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
91 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70936517-70940008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70939951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 6
(L6S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
| AlphaFold |
Q7TNI2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000045286
AA Change: L6S
|
| SMART Domains |
Protein: ENSMUSP00000043659
Gene: ENSMUSG00000035964
AA Change: L6S
| 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
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
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'- TCCATCTGAGGGTCCTACAC -3'
(R):5'- ATCCAAGTCCGGTCAAAGAG -3'
Sequencing Primer
(F):5'- AGGGTCCTACACTCAGGTC -3'
(R):5'- TCAGTGACGTCAACACC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation