Incidental Mutation 'R3835:Tagln'
ID 275588
Institutional Source Beutler Lab
Gene Symbol Tagln
Ensembl Gene ENSMUSG00000032085
Gene Name transgelin
Synonyms SM22, Sm22a, SM22alpha, SM-22 alpha
MMRRC Submission 040890-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3835 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45840926-45847356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45843008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 18 (I18V)
Ref Sequence ENSEMBL: ENSMUSP00000150408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000215509] [ENSMUST00000216672]
AlphaFold P37804
Predicted Effect probably benign
Transcript: ENSMUST00000034590
AA Change: I18V

PolyPhen 2 Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034590
Gene: ENSMUSG00000032085
AA Change: I18V

DomainStartEndE-ValueType
CH 26 133 1.53e-20 SMART
Pfam:Calponin 175 199 5.5e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039059
SMART Domains Protein: ENSMUSP00000047508
Gene: ENSMUSG00000035382

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:S8_pro-domain 52 140 9.7e-21 PFAM
Pfam:Peptidase_S8 177 464 4.7e-43 PFAM
Pfam:P_proprotein 524 611 1.3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214425
Predicted Effect probably benign
Transcript: ENSMUST00000215189
Predicted Effect probably benign
Transcript: ENSMUST00000215509
AA Change: I18V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216035
Meta Mutation Damage Score 0.2429 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: This gene encodes a smooth muscle cell-specific cytoskeletal protein. The encoded protein is structurally similar to calponin, an actin-binding protein. In mouse models of atherosclerosis the gene product may be involved in plaque cell and atherosclerotic lesion formation during atherogenesis. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for targeted mutations in this gene are viable, fertile and phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T C 3: 151,216,254 (GRCm39) I479T probably damaging Het
Adh6a G A 3: 138,033,275 (GRCm39) probably null Het
Anapc7 A G 5: 122,581,940 (GRCm39) T528A possibly damaging Het
Ap5b1 A G 19: 5,618,918 (GRCm39) T113A possibly damaging Het
Apaf1 G A 10: 90,895,449 (GRCm39) R439C probably benign Het
Apoa5 A T 9: 46,181,878 (GRCm39) H318L probably damaging Het
Bltp2 A G 11: 78,169,911 (GRCm39) R1545G probably benign Het
Btnl9 T G 11: 49,071,512 (GRCm39) T104P probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Dennd5a T C 7: 109,533,449 (GRCm39) K107R probably benign Het
Dthd1 A T 5: 63,007,128 (GRCm39) R610W probably damaging Het
Eno1 T C 4: 150,331,119 (GRCm39) S186P probably benign Het
Gipc2 C A 3: 151,833,823 (GRCm39) V153F probably damaging Het
Gpt A G 15: 76,582,783 (GRCm39) Y295C probably damaging Het
Kcnh5 T A 12: 74,945,044 (GRCm39) Q735L probably benign Het
Lrrc10 A G 10: 116,881,691 (GRCm39) N122D possibly damaging Het
Lrrc37 C A 11: 103,510,836 (GRCm39) L377F unknown Het
Meis2 T C 2: 115,752,228 (GRCm39) H301R probably damaging Het
Muc5b A T 7: 141,412,918 (GRCm39) I1955F unknown Het
Nalcn A T 14: 123,530,834 (GRCm39) probably benign Het
Nmt2 T C 2: 3,315,723 (GRCm39) probably benign Het
Nnt C T 13: 119,509,031 (GRCm39) G403R probably damaging Het
Or4a79 T G 2: 89,551,799 (GRCm39) I219L possibly damaging Het
Or4d6 T A 19: 12,086,764 (GRCm39) I49F possibly damaging Het
Or5b109 A T 19: 13,212,103 (GRCm39) D163V probably benign Het
Ovgp1 A G 3: 105,893,631 (GRCm39) E468G probably benign Het
Pax6 G A 2: 105,526,795 (GRCm39) E234K probably benign Het
Prkdc A G 16: 15,609,810 (GRCm39) E3138G probably damaging Het
Prmt6 T C 3: 110,158,121 (GRCm39) D56G possibly damaging Het
Ptprt A G 2: 161,389,307 (GRCm39) V1261A probably damaging Het
Qtrt2 A G 16: 43,701,435 (GRCm39) S42P probably damaging Het
Rab9b C T X: 135,762,259 (GRCm39) R47Q possibly damaging Het
Rpgrip1 A G 14: 52,384,710 (GRCm39) E606G probably damaging Het
Setx C T 2: 29,035,072 (GRCm39) S519L possibly damaging Het
Slc15a2 A T 16: 36,592,490 (GRCm39) C191* probably null Het
Snrk T C 9: 121,966,069 (GRCm39) probably benign Het
St6galnac1 T C 11: 116,657,109 (GRCm39) D422G probably damaging Het
Stag1 C T 9: 100,620,035 (GRCm39) T46I probably damaging Het
Tasor2 T C 13: 3,625,292 (GRCm39) T1553A probably benign Het
Tbx18 C A 9: 87,611,689 (GRCm39) A114S probably benign Het
Ttc16 T C 2: 32,659,322 (GRCm39) D259G probably damaging Het
Vldlr A G 19: 27,212,214 (GRCm39) D76G probably damaging Het
Vmn2r24 G T 6: 123,764,412 (GRCm39) D430Y probably benign Het
Xlr3a T C X: 72,138,644 (GRCm39) E5G probably damaging Het
Other mutations in Tagln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Tagln APN 9 45,842,170 (GRCm39) missense probably benign 0.35
R1819:Tagln UTSW 9 45,842,138 (GRCm39) missense probably benign 0.05
R5217:Tagln UTSW 9 45,842,177 (GRCm39) missense probably benign
R7875:Tagln UTSW 9 45,841,680 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCAGGTACAGAACACAACTG -3'
(R):5'- ATGCTATGATGTCTAGGGTCCC -3'

Sequencing Primer
(F):5'- TGAACACTCAGCTCAGGGAGTC -3'
(R):5'- ATGTCTAGGGTCCCTCAGAG -3'
Posted On 2015-04-06