Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Tgm3'

601910

Institutional Source

Beutler Lab

Gene Symbol

Tgm3

Ensembl Gene

ENSMUSG00000027401

Gene Name

transglutaminase 3, E polypeptide

Synonyms

we, TG E

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129854269-129892319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129883819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 492 (I492M)

Ref Sequence

ENSEMBL: ENSMUSP00000105928 (fasta)

Gene Model

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

AlphaFold

Q08189

Predicted Effect

probably benign
Transcript: ENSMUST00000110299
AA Change: I492M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: I492M

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Yju2b	T	C	8: 84,988,411 (GRCm39)	E72G	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	probably damaging	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
IGL01722:Tgm3	APN	2	129,886,488 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCTATATCTCTGAGGTACCC -3'
(R):5'- ATTGAGTCCCACCAACTACAGG -3'

Sequencing Primer
(F):5'- ATATCTCTGAGGTACCCTTGTTTAG -3'
(R):5'- CAGGATGAGTCAGTTACCTTCTTCAG -3'

Posted On

2019-12-03