Incidental Mutation 'IGL00951:Tagln'
ID28209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tagln
Ensembl Gene ENSMUSG00000032085
Gene Nametransgelin
SynonymsSM22, SM-22 alpha, Sm22a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00951
Quality Score
Status
Chromosome9
Chromosomal Location45929619-45936058 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45930872 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 141 (N141I)
Ref Sequence ENSEMBL: ENSMUSP00000034590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034590] [ENSMUST00000039059] [ENSMUST00000215189] [ENSMUST00000215509] [ENSMUST00000216672]
PDB Structure
Solution Structure of the CH domain from Mouse Trangelin [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034590
AA Change: N141I

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034590
Gene: ENSMUSG00000032085
AA Change: N141I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216614
Predicted Effect probably benign
Transcript: ENSMUST00000216672
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Hp T C 8: 109,577,497 D24G possibly damaging Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Mpzl1 A G 1: 165,605,822 F87L probably damaging Het
Ms4a4d A T 19: 11,554,921 I144F probably benign Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Vkorc1l1 C T 5: 129,982,267 T144I probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Tagln
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1819:Tagln UTSW 9 45930840 missense probably benign 0.05
R3835:Tagln UTSW 9 45931710 missense probably benign 0.38
R5217:Tagln UTSW 9 45930879 missense probably benign
R7875:Tagln UTSW 9 45930382 missense probably damaging 0.99
R7958:Tagln UTSW 9 45930382 missense probably damaging 0.99
Posted On2013-04-17