Incidental Mutation 'R8265:Tmem59l'
ID |
639681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem59l
|
Ensembl Gene |
ENSMUSG00000035964 |
Gene Name |
transmembrane protein 59-like |
Synonyms |
5330410G16Rik |
MMRRC Submission |
067690-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R8265 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70936517-70940008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70938426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 149
(S149P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045286]
|
AlphaFold |
Q7TNI2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045286
AA Change: S149P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000043659 Gene: ENSMUSG00000035964 AA Change: S149P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
A |
G |
19: 3,766,568 (GRCm39) |
T52A |
probably benign |
Het |
Adam9 |
T |
C |
8: 25,457,202 (GRCm39) |
Y642C |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,347,315 (GRCm39) |
E47G |
probably benign |
Het |
Btbd9 |
T |
A |
17: 30,553,278 (GRCm39) |
T395S |
possibly damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,364 (GRCm39) |
W800* |
probably null |
Het |
Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
Ceacam20 |
G |
A |
7: 19,708,159 (GRCm39) |
V255M |
probably damaging |
Het |
Cit |
C |
A |
5: 116,126,236 (GRCm39) |
L1610M |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,222,426 (GRCm39) |
T729A |
probably benign |
Het |
Ddx19b |
A |
T |
8: 111,735,824 (GRCm39) |
V407E |
probably damaging |
Het |
Dst |
A |
G |
1: 34,217,603 (GRCm39) |
K1348E |
probably benign |
Het |
E2f4 |
T |
A |
8: 106,027,977 (GRCm39) |
S302T |
probably damaging |
Het |
Eif1 |
A |
G |
11: 100,211,299 (GRCm39) |
E31G |
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Herc1 |
C |
T |
9: 66,293,986 (GRCm39) |
Q443* |
probably null |
Het |
Hmgxb3 |
A |
G |
18: 61,300,410 (GRCm39) |
V222A |
possibly damaging |
Het |
Hnrnpu |
A |
T |
1: 178,159,725 (GRCm39) |
I452N |
unknown |
Het |
Ints1 |
C |
G |
5: 139,757,919 (GRCm39) |
D260H |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,383,557 (GRCm39) |
M766K |
possibly damaging |
Het |
Lama4 |
G |
A |
10: 38,981,200 (GRCm39) |
C1720Y |
probably damaging |
Het |
Mei1 |
C |
A |
15: 81,987,508 (GRCm39) |
Y433* |
probably null |
Het |
Milr1 |
A |
G |
11: 106,654,711 (GRCm39) |
K188E |
probably benign |
Het |
Myo7a |
A |
G |
7: 97,734,604 (GRCm39) |
F630S |
probably benign |
Het |
Myoz2 |
A |
G |
3: 122,800,172 (GRCm39) |
F219L |
probably benign |
Het |
Nt5c1a |
T |
C |
4: 123,107,953 (GRCm39) |
V212A |
possibly damaging |
Het |
Or51f1e |
A |
G |
7: 102,747,304 (GRCm39) |
T119A |
probably benign |
Het |
Or51v14 |
A |
T |
7: 103,261,048 (GRCm39) |
C171S |
possibly damaging |
Het |
Or8b42 |
T |
C |
9: 38,342,469 (GRCm39) |
V297A |
probably damaging |
Het |
Pi16 |
A |
G |
17: 29,545,947 (GRCm39) |
T242A |
probably benign |
Het |
Pigw |
C |
A |
11: 84,770,847 (GRCm39) |
|
probably benign |
Het |
Pipox |
T |
A |
11: 77,774,793 (GRCm39) |
T97S |
probably benign |
Het |
Plagl1 |
C |
A |
10: 13,004,625 (GRCm39) |
A631E |
unknown |
Het |
Poteg |
T |
A |
8: 27,984,923 (GRCm39) |
H427Q |
possibly damaging |
Het |
Prdm14 |
A |
G |
1: 13,184,618 (GRCm39) |
S518P |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,423 (GRCm39) |
E441G |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,614,794 (GRCm39) |
|
probably null |
Het |
Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
Sidt1 |
C |
A |
16: 44,088,250 (GRCm39) |
R381M |
possibly damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Srsf5 |
A |
G |
12: 80,994,110 (GRCm39) |
D51G |
possibly damaging |
Het |
Taar8a |
T |
A |
10: 23,952,839 (GRCm39) |
S148T |
probably damaging |
Het |
Trafd1 |
T |
A |
5: 121,511,340 (GRCm39) |
I493F |
possibly damaging |
Het |
Trrap |
C |
T |
5: 144,722,344 (GRCm39) |
S289L |
possibly damaging |
Het |
Zfp267 |
T |
C |
3: 36,213,677 (GRCm39) |
|
probably benign |
Het |
Zfp955a |
C |
T |
17: 33,463,087 (GRCm39) |
V15M |
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 |
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 |
R9320:Tmem59l
|
UTSW |
8 |
70,937,822 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCTGAAGTTCTCTCATGAG -3'
(R):5'- GAAAGACTGTGTGGCTTCTTCC -3'
Sequencing Primer
(F):5'- CATGAGGACTTCATATACCATGAGGC -3'
(R):5'- TTCCCCTTAAGTGAACACAGCTG -3'
|
Posted On |
2020-07-28 |