Incidental Mutation 'R7190:Thy1'
ID 559551
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 045273-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7190 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 43954681-43959876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43958222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 117 (S117T)
Ref Sequence ENSEMBL: ENSMUSP00000110489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114840] [ENSMUST00000214627] [ENSMUST00000215156] [ENSMUST00000215809]
AlphaFold P01831
Predicted Effect possibly damaging
Transcript: ENSMUST00000114840
AA Change: S117T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110489
Gene: ENSMUSG00000032011
AA Change: S117T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 33 107 2.13e-7 SMART
low complexity region 145 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214627
Predicted Effect probably benign
Transcript: ENSMUST00000215156
Predicted Effect possibly damaging
Transcript: ENSMUST00000215809
AA Change: S117T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Add3 C T 19: 53,205,330 (GRCm39) R27* probably null Het
Armc3 T A 2: 19,297,947 (GRCm39) Y573N probably damaging Het
Bod1l A C 5: 41,977,281 (GRCm39) N1344K probably benign Het
Camta1 T G 4: 151,232,980 (GRCm39) N231T possibly damaging Het
Capza2 T A 6: 17,654,120 (GRCm39) Y57* probably null Het
Ccdc168 A C 1: 44,100,775 (GRCm39) S108A probably benign Het
Ccdc186 T A 19: 56,780,432 (GRCm39) I871F probably damaging Het
Cntnap5b A G 1: 100,359,574 (GRCm39) probably null Het
Dnah2 G T 11: 69,439,923 (GRCm39) probably null Het
Fhod3 T C 18: 25,223,812 (GRCm39) F1053L probably damaging Het
Foxj1 A G 11: 116,223,201 (GRCm39) Y201H possibly damaging Het
Gatad2b T A 3: 90,257,722 (GRCm39) I210N probably benign Het
Gba1 T A 3: 89,111,669 (GRCm39) I112N probably damaging Het
Gbp2 T C 3: 142,339,208 (GRCm39) V420A probably benign Het
Golga3 T A 5: 110,357,721 (GRCm39) H1072Q probably damaging Het
Gpr150 C T 13: 76,203,992 (GRCm39) A318T probably benign Het
Gpr6 T C 10: 40,946,956 (GRCm39) N209D probably damaging Het
Grin2b T C 6: 135,709,946 (GRCm39) N1200S possibly damaging Het
Ifi207 G A 1: 173,557,818 (GRCm39) H307Y unknown Het
Il20ra A T 10: 19,618,689 (GRCm39) I46F probably damaging Het
Lvrn A G 18: 47,033,570 (GRCm39) D927G probably benign Het
Nlrc4 G T 17: 74,752,198 (GRCm39) D728E probably damaging Het
Nup107 T C 10: 117,598,040 (GRCm39) D630G probably benign Het
Or1e19 A T 11: 73,315,990 (GRCm39) I273N probably benign Het
Or6c5c T C 10: 129,298,626 (GRCm39) I27T probably benign Het
Pclo C A 5: 14,729,743 (GRCm39) A2867D unknown Het
Perm1 A G 4: 156,304,272 (GRCm39) T754A possibly damaging Het
Plpbp G T 8: 27,541,325 (GRCm39) V162L probably benign Het
Plscr4 A T 9: 92,370,694 (GRCm39) E220D probably benign Het
Ppp2r3d A T 9: 101,089,726 (GRCm39) M199K probably benign Het
Pramel38 T G 5: 94,366,096 (GRCm39) N71K probably benign Het
Rassf6 T C 5: 90,754,666 (GRCm39) E204G probably damaging Het
Reln A C 5: 22,252,945 (GRCm39) D667E probably damaging Het
Rere A G 4: 150,695,410 (GRCm39) I462V unknown Het
Rpain A G 11: 70,862,735 (GRCm39) E76G possibly damaging Het
Strc T G 2: 121,199,507 (GRCm39) I1311L probably benign Het
Svil A G 18: 5,092,937 (GRCm39) M1385V probably benign Het
Syne2 T A 12: 76,113,361 (GRCm39) D1083E probably benign Het
Szt2 T A 4: 118,246,203 (GRCm39) H986L probably damaging Het
Tcl1b2 G T 12: 105,113,493 (GRCm39) probably null Het
Tmem183a A T 1: 134,282,496 (GRCm39) I203N probably damaging Het
Tmprss11g T C 5: 86,644,491 (GRCm39) I118V probably benign Het
Tsen34 T C 7: 3,697,806 (GRCm39) V69A possibly damaging Het
Ttn T C 2: 76,717,143 (GRCm39) Q7506R unknown Het
Vmn1r184 T C 7: 25,967,105 (GRCm39) S284P probably damaging Het
Wdr19 A G 5: 65,398,205 (GRCm39) D810G probably benign Het
Zer1 T C 2: 29,993,444 (GRCm39) D554G probably damaging Het
Zfp626 A T 7: 27,517,768 (GRCm39) T250S probably benign Het
Other mutations in Thy1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3625:Thy1 UTSW 9 43,958,028 (GRCm39) missense probably damaging 1.00
R4724:Thy1 UTSW 9 43,958,645 (GRCm39) missense probably damaging 1.00
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'- TGCCGCCATGAGAATAACAC -3'
(R):5'- ATAGACAGCAGCAGTTTCCC -3'

Sequencing Primer
(F):5'- ATCCAGCATGAGTTCAGCCTG -3'
(R):5'- TTTCCCAGGAGACCAGCAGTTAG -3'
Posted On 2019-06-26