Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00951:Tagln'

28209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tagln

Ensembl Gene

ENSMUSG00000032085

Gene Name

transgelin

Synonyms

SM22, Sm22a, SM22alpha, SM-22 alpha

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00951

Quality Score

Status

Chromosome

Chromosomal Location

45840926-45847356 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45842170 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P37804

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000216614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216504

Predicted Effect

probably benign
Transcript: ENSMUST00000216672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216514

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	C	A	9: 99,387,757 (GRCm39)	R388L	probably benign	Het
Bcan	T	C	3: 87,901,481 (GRCm39)	E407G	probably damaging	Het
Brms1l	A	G	12: 55,912,834 (GRCm39)	I276V	possibly damaging	Het
Brpf1	C	A	6: 113,299,514 (GRCm39)	D1182E	probably damaging	Het
Clpb	A	G	7: 101,400,467 (GRCm39)	M268V	probably benign	Het
Cpne8	A	T	15: 90,486,096 (GRCm39)		probably benign	Het
Ddx25	A	T	9: 35,464,131 (GRCm39)		probably null	Het
Dgki	A	G	6: 36,977,094 (GRCm39)	M672T	probably damaging	Het
Fhdc1	T	C	3: 84,371,620 (GRCm39)	T112A	possibly damaging	Het
Galnt7	A	T	8: 58,036,858 (GRCm39)	M177K	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hp	T	C	8: 110,304,129 (GRCm39)	D24G	possibly damaging	Het
Jak2	A	G	19: 29,276,983 (GRCm39)	R847G	probably damaging	Het
Lama2	A	T	10: 26,906,281 (GRCm39)	D2391E	probably benign	Het
Mpzl1	A	G	1: 165,433,391 (GRCm39)	F87L	probably damaging	Het
Ms4a4d	A	T	19: 11,532,285 (GRCm39)	I144F	probably benign	Het
Or5h18	G	A	16: 58,848,216 (GRCm39)	T18I	probably benign	Het
Or5h23	A	C	16: 58,906,756 (GRCm39)	L30R	possibly damaging	Het
Or5i1	A	T	2: 87,612,883 (GRCm39)	I2F	probably benign	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Or6d14	G	A	6: 116,534,027 (GRCm39)	V214I	probably benign	Het
Prr16	A	G	18: 51,436,411 (GRCm39)	R297G	probably damaging	Het
Ralgps1	A	C	2: 33,163,614 (GRCm39)	L148V	probably damaging	Het
Rara	A	G	11: 98,858,992 (GRCm39)	D150G	probably benign	Het
Rb1	A	T	14: 73,559,512 (GRCm39)	V64D	probably damaging	Het
Ros1	A	G	10: 52,019,348 (GRCm39)	Y742H	probably damaging	Het
Rpl7a	A	G	2: 26,802,441 (GRCm39)	D160G	possibly damaging	Het
Sdccag8	A	G	1: 176,705,568 (GRCm39)	M461V	possibly damaging	Het
Tas2r140	A	T	6: 40,468,913 (GRCm39)	R248*	probably null	Het
Ube2j2	C	T	4: 156,030,834 (GRCm39)		probably benign	Het
Ulk1	A	G	5: 110,940,270 (GRCm39)	C384R	possibly damaging	Het
Ush2a	A	T	1: 187,995,662 (GRCm39)	E144D	probably benign	Het
Vkorc1l1	C	T	5: 130,011,108 (GRCm39)	T144I	probably benign	Het
Zfp235	T	C	7: 23,836,505 (GRCm39)	F17S	probably damaging	Het

Other mutations in Tagln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1819:Tagln	UTSW	9	45,842,138 (GRCm39)	missense	probably benign	0.05
R3835:Tagln	UTSW	9	45,843,008 (GRCm39)	missense	probably benign	0.38
R5217:Tagln	UTSW	9	45,842,177 (GRCm39)	missense	probably benign
R7875:Tagln	UTSW	9	45,841,680 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-04-17