Incidental Mutation 'R3625:Thy1'
ID |
269380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thy1
|
Ensembl Gene |
ENSMUSG00000032011 |
Gene Name |
thymus cell antigen 1, theta |
Synonyms |
Thy1.2, Thy1.1, Thy 1.2, Thy-1, Thy-1.2, T25, CD90 |
MMRRC Submission |
040679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3625 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
43954681-43959876 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43958028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 52
(E52G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114840]
[ENSMUST00000214627]
[ENSMUST00000215156]
[ENSMUST00000215809]
|
AlphaFold |
P01831 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114840
AA Change: E52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110489 Gene: ENSMUSG00000032011 AA Change: E52G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
IGv
|
33 |
107 |
2.13e-7 |
SMART |
low complexity region
|
145 |
154 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214627
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215156
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215809
AA Change: E52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6705 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein that is anchored to the cell surface of thymocytes, neuronal and other cells through a glycosyl-phosphatidylinositol moiety. A soluble form of the encoded protein has also been detected in serum and cerebrospinal fluid. The encoded protein undergoes further processing to generate the mature protein which mediates cell-cell interactions to trigger downstream signaling pathways. [provided by RefSeq, Jul 2015] PHENOTYPE: Homozygous null mice are viable, fertile, and display no abnormalities in the brain and spinal cord, have normal axonal development and regeneration and no behavioral abnormalities. Long term potentiation is inhibited in the dentate gyrus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
T |
C |
7: 143,425,591 (GRCm39) |
V80A |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atg3 |
T |
A |
16: 44,995,624 (GRCm39) |
I119N |
probably benign |
Het |
Cdh12 |
G |
C |
15: 21,358,842 (GRCm39) |
V89L |
probably damaging |
Het |
Cdh3 |
C |
A |
8: 107,270,310 (GRCm39) |
H396N |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Dab2ip |
C |
A |
2: 35,533,903 (GRCm39) |
S43* |
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,300,927 (GRCm39) |
S2394P |
probably benign |
Het |
F13a1 |
T |
G |
13: 37,082,067 (GRCm39) |
N546H |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,194,814 (GRCm39) |
N1449S |
probably damaging |
Het |
Flywch1 |
T |
C |
17: 23,979,175 (GRCm39) |
|
probably benign |
Het |
Grxcr2 |
T |
A |
18: 42,131,883 (GRCm39) |
D62V |
probably damaging |
Het |
H2bc8 |
T |
C |
13: 23,755,625 (GRCm39) |
|
probably benign |
Het |
Ifnab |
A |
T |
4: 88,609,016 (GRCm39) |
I150N |
probably damaging |
Het |
Igsf8 |
T |
C |
1: 172,145,336 (GRCm39) |
V284A |
probably benign |
Het |
Kdm1a |
T |
C |
4: 136,288,419 (GRCm39) |
E388G |
possibly damaging |
Het |
Map3k8 |
G |
A |
18: 4,333,965 (GRCm39) |
R376C |
probably damaging |
Het |
Map6 |
A |
T |
7: 98,918,402 (GRCm39) |
T189S |
possibly damaging |
Het |
Mms22l |
T |
A |
4: 24,505,357 (GRCm39) |
S206T |
probably damaging |
Het |
N4bp1 |
A |
G |
8: 87,578,337 (GRCm39) |
L676S |
probably damaging |
Het |
Nkx6-2 |
A |
G |
7: 139,162,106 (GRCm39) |
F117S |
possibly damaging |
Het |
Ociad2 |
C |
T |
5: 73,481,173 (GRCm39) |
C72Y |
probably damaging |
Het |
Or10w1 |
T |
A |
19: 13,632,346 (GRCm39) |
C184* |
probably null |
Het |
Or52e15 |
A |
T |
7: 104,645,191 (GRCm39) |
F307I |
probably benign |
Het |
Pcdhb6 |
G |
T |
18: 37,469,193 (GRCm39) |
V21L |
probably damaging |
Het |
Pogk |
G |
A |
1: 166,231,081 (GRCm39) |
T82I |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,142,731 (GRCm39) |
S296G |
probably benign |
Het |
Prkcsh |
A |
G |
9: 21,922,548 (GRCm39) |
E283G |
probably null |
Het |
Prkd3 |
C |
T |
17: 79,292,733 (GRCm39) |
R113H |
probably damaging |
Het |
Rabgef1 |
T |
C |
5: 130,240,961 (GRCm39) |
|
probably null |
Het |
Rec8 |
T |
C |
14: 55,859,954 (GRCm39) |
I234T |
possibly damaging |
Het |
Sim1 |
A |
T |
10: 50,857,432 (GRCm39) |
H394L |
probably benign |
Het |
Trav14n-3 |
A |
T |
14: 53,607,543 (GRCm39) |
I4F |
probably damaging |
Het |
Trim15 |
T |
C |
17: 37,177,768 (GRCm39) |
T76A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,599,145 (GRCm39) |
I19288T |
probably damaging |
Het |
Vmn1r6 |
C |
T |
6: 56,979,920 (GRCm39) |
T172I |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,893,105 (GRCm39) |
L678Q |
probably damaging |
Het |
Vpreb1a |
T |
C |
16: 16,686,668 (GRCm39) |
H74R |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,056,273 (GRCm39) |
I100V |
probably benign |
Het |
Zfp36 |
C |
A |
7: 28,077,681 (GRCm39) |
A76S |
probably benign |
Het |
|
Other mutations in Thy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02832:Thy1
|
APN |
9 |
43,958,111 (GRCm39) |
missense |
probably benign |
0.00 |
R0551:Thy1
|
UTSW |
9 |
43,958,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Thy1
|
UTSW |
9 |
43,958,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Thy1
|
UTSW |
9 |
43,958,636 (GRCm39) |
missense |
probably benign |
0.07 |
R4724:Thy1
|
UTSW |
9 |
43,958,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7190:Thy1
|
UTSW |
9 |
43,958,222 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7667:Thy1
|
UTSW |
9 |
43,958,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7684:Thy1
|
UTSW |
9 |
43,957,855 (GRCm39) |
missense |
unknown |
|
R9022:Thy1
|
UTSW |
9 |
43,957,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Thy1
|
UTSW |
9 |
43,958,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R9326:Thy1
|
UTSW |
9 |
43,957,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATACCTCAAGGGCGAGTG -3'
(R):5'- GAAGCTCACAAAAGTAGTCGC -3'
Sequencing Primer
(F):5'- CAAGTCTACTTTTCCTGCAGGTGG -3'
(R):5'- AAAAGTAGTCGCCCTCATCCTTGG -3'
|
Posted On |
2015-02-19 |