Incidental Mutation 'R8083:Tagln2'
ID 629451
Institutional Source Beutler Lab
Gene Symbol Tagln2
Ensembl Gene ENSMUSG00000026547
Gene Name transgelin 2
Synonyms 2700094C18Rik, Sm22B
MMRRC Submission 067516-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8083 (G1)
Quality Score 222.009
Status Validated
Chromosome 1
Chromosomal Location 172327813-172334942 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 172332766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 18 (I18F)
Ref Sequence ENSEMBL: ENSMUSP00000106861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111228] [ENSMUST00000111230] [ENSMUST00000192460]
AlphaFold Q9WVA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000111228
AA Change: I18F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106859
Gene: ENSMUSG00000026547
AA Change: I18F

DomainStartEndE-ValueType
CH 26 132 2.84e-24 SMART
Pfam:Calponin 174 198 7e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111230
AA Change: I18F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106861
Gene: ENSMUSG00000026547
AA Change: I18F

DomainStartEndE-ValueType
CH 26 132 2.84e-24 SMART
Pfam:Calponin 174 199 1.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000192460
AA Change: I18F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141983
Gene: ENSMUSG00000026547
AA Change: I18F

DomainStartEndE-ValueType
Pfam:CH 27 90 9.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 95.5%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display abnormalities in T cell physiology including cytotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,282,987 (GRCm39) E255G possibly damaging Het
Abcg5 A T 17: 84,965,971 (GRCm39) L635Q probably damaging Het
Acsl3 G A 1: 78,669,844 (GRCm39) D238N probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adamtsl4 C T 3: 95,591,711 (GRCm39) V126M possibly damaging Het
Apobec1 G A 6: 122,555,888 (GRCm39) P190S probably damaging Het
Arel1 A T 12: 84,987,136 (GRCm39) H93Q probably benign Het
Bpifa2 T G 2: 153,852,412 (GRCm39) V96G probably damaging Het
Cacna1s G A 1: 136,023,529 (GRCm39) V923I possibly damaging Het
Caprin2 A C 6: 148,744,346 (GRCm39) Y1026* probably null Het
Cdk8 T G 5: 146,205,100 (GRCm39) W34G probably damaging Het
Cdkn3 A T 14: 47,000,058 (GRCm39) Q28L probably benign Het
Cfap58 A G 19: 47,971,957 (GRCm39) E629G probably damaging Het
Chaf1b T A 16: 93,691,630 (GRCm39) C255S probably damaging Het
Clcn4 A G 7: 7,294,427 (GRCm39) F445L possibly damaging Het
Cpne6 A C 14: 55,750,698 (GRCm39) I140L probably benign Het
Cyp2b23 C A 7: 26,385,828 (GRCm39) A10S possibly damaging Het
Eci3 G T 13: 35,140,873 (GRCm39) T103K probably benign Het
Eri3 T A 4: 117,450,359 (GRCm39) M253K probably damaging Het
Gm21103 C T 14: 17,482,895 (GRCm39) V169M possibly damaging Het
Gm6594 G A 17: 82,846,897 (GRCm39) A71T probably benign Het
Gns T C 10: 121,214,008 (GRCm39) S228P probably damaging Het
Hbegf A T 18: 36,648,224 (GRCm39) S46T probably benign Het
Hcn1 GCAACAACA GCAACAACAACA 13: 118,112,296 (GRCm39) probably benign Het
Mcf2l T A 8: 13,057,875 (GRCm39) probably null Het
Nfasc T C 1: 132,524,320 (GRCm39) D846G probably benign Het
Nt5dc2 A G 14: 30,856,783 (GRCm39) Y103C probably damaging Het
Osbpl9 C T 4: 108,943,572 (GRCm39) V147M possibly damaging Het
Pid1 T C 1: 84,015,970 (GRCm39) I146V probably benign Het
Rangap1 A G 15: 81,603,101 (GRCm39) I108T probably benign Het
Rbm12b1 T C 4: 12,146,409 (GRCm39) Y794H probably damaging Het
Rprd1b T C 2: 157,892,052 (GRCm39) S192P probably damaging Het
Sacs A T 14: 61,448,166 (GRCm39) D3404V possibly damaging Het
Setd5 G T 6: 113,091,971 (GRCm39) G264V probably damaging Het
Tex51 T C 18: 32,591,807 (GRCm39) probably null Het
Ttc17 C A 2: 94,204,909 (GRCm39) V338F probably damaging Het
Xirp2 T A 2: 67,339,043 (GRCm39) M428K possibly damaging Het
Zfp503 A T 14: 22,036,132 (GRCm39) D261E probably damaging Het
Zfp784 T C 7: 5,038,905 (GRCm39) T218A possibly damaging Het
Zp3 A C 5: 136,013,376 (GRCm39) D236A probably damaging Het
Other mutations in Tagln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0468:Tagln2 UTSW 1 172,333,788 (GRCm39) missense probably benign 0.23
R1576:Tagln2 UTSW 1 172,332,788 (GRCm39) missense probably benign 0.02
R5680:Tagln2 UTSW 1 172,333,479 (GRCm39) missense probably damaging 1.00
R6860:Tagln2 UTSW 1 172,333,476 (GRCm39) missense probably benign 0.32
R7149:Tagln2 UTSW 1 172,333,386 (GRCm39) missense probably damaging 0.98
R7554:Tagln2 UTSW 1 172,333,411 (GRCm39) missense probably damaging 1.00
R7977:Tagln2 UTSW 1 172,332,820 (GRCm39) missense probably benign
R7987:Tagln2 UTSW 1 172,332,820 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACGAAATGTAGTATCTGTGTGGC -3'
(R):5'- CTGTGTAAAACGCTCCCTGG -3'

Sequencing Primer
(F):5'- TTCCTACTGGCCAGAGTCCAG -3'
(R):5'- GTAAAACGCTCCCTGGTCCCC -3'
Posted On 2020-06-30