Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01722:Tgm3'

105144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm3

Ensembl Gene

ENSMUSG00000027401

Gene Name

transglutaminase 3, E polypeptide

Synonyms

we, TG E

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01722

Quality Score

Status

Chromosome

Chromosomal Location

129854269-129892319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129886488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 570 (I570F)

Ref Sequence

ENSEMBL: ENSMUSP00000105928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110299]

AlphaFold

Q08189

Predicted Effect

probably damaging
Transcript: ENSMUST00000110299
AA Change: I570F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: I570F

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	5	118	8.3e-33	PFAM
TGc	265	357	6.4e-39	SMART
Pfam:Transglut_C	483	588	3.9e-26	PFAM
Pfam:Transglut_C	595	693	4.9e-24	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	T	A	2: 58,173,561 (GRCm39)		probably benign	Het
Alb	G	A	5: 90,618,698 (GRCm39)		probably null	Het
Ankrd9	A	G	12: 110,943,797 (GRCm39)	V46A	probably damaging	Het
Apol11a	A	T	15: 77,401,307 (GRCm39)	M265L	probably benign	Het
Ccdc158	T	C	5: 92,810,598 (GRCm39)	N97D	possibly damaging	Het
Cobl	T	G	11: 12,203,987 (GRCm39)	H823P	probably benign	Het
Dnaja2	A	T	8: 86,279,908 (GRCm39)	H90Q	probably benign	Het
Dpagt1	T	C	9: 44,238,899 (GRCm39)	F73S	possibly damaging	Het
Dph3	C	T	14: 31,807,417 (GRCm39)	E20K	possibly damaging	Het
Fbxl13	G	T	5: 21,695,412 (GRCm39)	T660K	possibly damaging	Het
Gask1a	G	A	9: 121,794,149 (GRCm39)	S101N	possibly damaging	Het
Glt6d1	T	C	2: 25,684,431 (GRCm39)	T192A	probably benign	Het
Mroh7	C	T	4: 106,560,358 (GRCm39)	V649I	probably benign	Het
Mta3	T	C	17: 84,063,072 (GRCm39)	Y4H	possibly damaging	Het
Myh14	A	G	7: 44,292,956 (GRCm39)	L369P	probably damaging	Het
Or2y1	G	T	11: 49,385,793 (GRCm39)	L144F	probably damaging	Het
Or4c52	T	C	2: 89,845,351 (GRCm39)	C26R	probably benign	Het
Paxx	T	C	2: 25,350,277 (GRCm39)	D110G	probably damaging	Het
Pcyox1	T	G	6: 86,365,735 (GRCm39)	D493A	probably damaging	Het
Plk2	A	G	13: 110,535,976 (GRCm39)	E560G	probably benign	Het
Rnf6	A	G	5: 146,147,036 (GRCm39)	F661L	probably benign	Het
Sema4a	T	C	3: 88,345,491 (GRCm39)	K531E	probably benign	Het
Svs5	T	C	2: 164,079,446 (GRCm39)	K154E	possibly damaging	Het
Tbx4	A	T	11: 85,802,769 (GRCm39)	Q242L	probably damaging	Het
Thrap3	A	T	4: 126,059,322 (GRCm39)	M908K	possibly damaging	Het
Trmo	A	G	4: 46,386,092 (GRCm39)		probably null	Het
Usp8	T	A	2: 126,600,072 (GRCm39)	L997Q	probably damaging	Het
Vmn1r202	T	C	13: 22,685,890 (GRCm39)	R176G	probably benign	Het
Vps52	T	A	17: 34,180,589 (GRCm39)	Y308*	probably null	Het

Other mutations in Tgm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Tgm3	APN	2	129,880,333 (GRCm39)	missense	probably damaging	1.00
IGL00924:Tgm3	APN	2	129,880,294 (GRCm39)	missense	probably damaging	1.00
IGL01469:Tgm3	APN	2	129,866,414 (GRCm39)	missense	probably damaging	1.00
IGL01787:Tgm3	APN	2	129,889,660 (GRCm39)	missense	possibly damaging	0.85
IGL02269:Tgm3	APN	2	129,866,438 (GRCm39)	missense	probably benign	0.02
IGL02437:Tgm3	APN	2	129,871,961 (GRCm39)	splice site	probably null
IGL02449:Tgm3	APN	2	129,880,529 (GRCm39)	critical splice donor site	probably null
IGL02992:Tgm3	APN	2	129,883,899 (GRCm39)	missense	probably damaging	1.00
tortellini	UTSW	2	129,866,505 (GRCm39)	critical splice donor site	probably benign
ANU74:Tgm3	UTSW	2	129,890,310 (GRCm39)	missense	probably damaging	1.00
R0523:Tgm3	UTSW	2	129,886,582 (GRCm39)	critical splice donor site	probably null
R0833:Tgm3	UTSW	2	129,868,602 (GRCm39)	splice site	probably benign
R0834:Tgm3	UTSW	2	129,868,677 (GRCm39)	missense	probably benign	0.00
R0836:Tgm3	UTSW	2	129,868,602 (GRCm39)	splice site	probably benign
R0940:Tgm3	UTSW	2	129,854,326 (GRCm39)	missense	probably benign	0.00
R1354:Tgm3	UTSW	2	129,883,818 (GRCm39)	missense	probably benign
R1642:Tgm3	UTSW	2	129,889,702 (GRCm39)	missense	probably damaging	1.00
R1670:Tgm3	UTSW	2	129,883,688 (GRCm39)	nonsense	probably null
R1715:Tgm3	UTSW	2	129,868,734 (GRCm39)	critical splice donor site	probably null
R1944:Tgm3	UTSW	2	129,871,889 (GRCm39)	missense	probably damaging	0.99
R2104:Tgm3	UTSW	2	129,879,403 (GRCm39)	missense	probably benign	0.39
R3416:Tgm3	UTSW	2	129,889,692 (GRCm39)	missense	possibly damaging	0.84
R3417:Tgm3	UTSW	2	129,889,692 (GRCm39)	missense	possibly damaging	0.84
R4231:Tgm3	UTSW	2	129,886,509 (GRCm39)	nonsense	probably null
R4296:Tgm3	UTSW	2	129,880,333 (GRCm39)	missense	possibly damaging	0.77
R4794:Tgm3	UTSW	2	129,883,875 (GRCm39)	missense	probably benign	0.00
R4948:Tgm3	UTSW	2	129,890,240 (GRCm39)	missense	probably benign	0.00
R5034:Tgm3	UTSW	2	129,879,404 (GRCm39)	missense	possibly damaging	0.95
R5144:Tgm3	UTSW	2	129,890,202 (GRCm39)	missense	possibly damaging	0.95
R5786:Tgm3	UTSW	2	129,868,704 (GRCm39)	nonsense	probably null
R6030:Tgm3	UTSW	2	129,883,920 (GRCm39)	missense	probably damaging	1.00
R6030:Tgm3	UTSW	2	129,883,920 (GRCm39)	missense	probably damaging	1.00
R6182:Tgm3	UTSW	2	129,867,221 (GRCm39)	nonsense	probably null
R6219:Tgm3	UTSW	2	129,880,530 (GRCm39)	critical splice donor site	probably null
R6901:Tgm3	UTSW	2	129,883,890 (GRCm39)	missense	possibly damaging	0.95
R6969:Tgm3	UTSW	2	129,883,949 (GRCm39)	missense	probably benign	0.06
R6980:Tgm3	UTSW	2	129,868,697 (GRCm39)	missense	probably benign	0.17
R7282:Tgm3	UTSW	2	129,866,481 (GRCm39)	missense	probably benign	0.00
R7317:Tgm3	UTSW	2	129,890,211 (GRCm39)	missense	probably benign	0.09
R7513:Tgm3	UTSW	2	129,866,324 (GRCm39)	missense	probably benign	0.00
R7517:Tgm3	UTSW	2	129,883,684 (GRCm39)	missense	probably benign	0.01
R7793:Tgm3	UTSW	2	129,854,330 (GRCm39)	critical splice donor site	probably null
R7822:Tgm3	UTSW	2	129,883,819 (GRCm39)	missense	probably benign	0.00
R7955:Tgm3	UTSW	2	129,880,400 (GRCm39)	missense	probably benign
R8747:Tgm3	UTSW	2	129,886,452 (GRCm39)	missense	probably benign	0.03
R8805:Tgm3	UTSW	2	129,889,702 (GRCm39)	missense	probably damaging	1.00
R8987:Tgm3	UTSW	2	129,880,403 (GRCm39)	missense	probably benign	0.00
R9029:Tgm3	UTSW	2	129,871,680 (GRCm39)	missense	probably benign	0.00
R9208:Tgm3	UTSW	2	129,865,618 (GRCm39)	missense	possibly damaging	0.76
R9423:Tgm3	UTSW	2	129,880,527 (GRCm39)	missense	probably benign	0.01
R9713:Tgm3	UTSW	2	129,867,229 (GRCm39)	missense	possibly damaging	0.74
X0065:Tgm3	UTSW	2	129,866,430 (GRCm39)	missense	probably benign	0.05

Posted On

2014-01-21