Mutagenetix > Incidental Mutation

Incidental Mutation 'R8805:Tgm3'

671978

Institutional Source

Beutler Lab

Gene Symbol

Tgm3

Ensembl Gene

ENSMUSG00000027401

Gene Name

transglutaminase 3, E polypeptide

Synonyms

we, TG E

MMRRC Submission

068642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129854269-129892319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129889702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 632 (V632E)

Ref Sequence

ENSEMBL: ENSMUSP00000105928 (fasta)

Gene Model

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

AlphaFold

Q08189

Predicted Effect

probably damaging
Transcript: ENSMUST00000110299
AA Change: V632E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: V632E

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (70/73)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,226,737 (GRCm39)	W467*	probably null	Het
4921509C19Rik	A	T	2: 151,313,285 (GRCm39)		probably benign	Het
Actl6b	G	A	5: 137,552,918 (GRCm39)	M82I	probably benign	Het
Bmp2	T	A	2: 133,403,254 (GRCm39)	D268E	probably damaging	Het
Cacng7	T	A	7: 3,415,298 (GRCm39)	L221H	probably damaging	Het
Ccser2	A	G	14: 36,601,712 (GRCm39)	V224A	probably damaging	Het
Cdc40	A	G	10: 40,733,576 (GRCm39)	F125L	probably damaging	Het
Cfap46	C	T	7: 139,211,979 (GRCm39)	A1669T	unknown	Het
Cfap58	A	T	19: 47,941,535 (GRCm39)	E301V	probably damaging	Het
Clcn2	C	A	16: 20,532,168 (GRCm39)	G96C	probably damaging	Het
Cotl1	T	A	8: 120,536,944 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,216,110 (GRCm39)	A812T	probably damaging	Het
Cracd	T	C	5: 77,006,489 (GRCm39)	V950A	unknown	Het
Crnkl1	T	C	2: 145,773,350 (GRCm39)		probably null	Het
Cry1	A	G	10: 84,992,969 (GRCm39)	V83A	probably benign	Het
Cyp2a5	G	T	7: 26,540,530 (GRCm39)	R381L	probably damaging	Het
Cyp46a1	T	C	12: 108,327,462 (GRCm39)	F425L	probably damaging	Het
Dek	A	T	13: 47,252,930 (GRCm39)	N158K	unknown	Het
Dgcr8	T	A	16: 18,076,161 (GRCm39)	Q674L	probably damaging	Het
Dlec1	C	A	9: 118,941,650 (GRCm39)	S345R	probably benign	Het
Dnah7b	T	A	1: 46,273,305 (GRCm39)	C2478S	possibly damaging	Het
Dstyk	T	A	1: 132,361,963 (GRCm39)	L131Q	probably damaging	Het
Fbxw7	T	A	3: 84,862,227 (GRCm39)	L186M		Het
Fn1	T	C	1: 71,644,239 (GRCm39)	Q1684R	probably benign	Het
Fsip2	C	A	2: 82,813,453 (GRCm39)	H3257Q	possibly damaging	Het
Gm5773	T	C	3: 93,681,042 (GRCm39)	V238A	probably damaging	Het
Gm9611	T	C	14: 42,116,657 (GRCm39)	D131G		Het
Gpatch8	T	C	11: 102,371,018 (GRCm39)	E840G	unknown	Het
Grm5	G	A	7: 87,453,176 (GRCm39)	R271Q	probably damaging	Het
Has3	A	T	8: 107,601,135 (GRCm39)	Y199F	probably damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Il2	T	A	3: 37,177,282 (GRCm39)	T85S	possibly damaging	Het
Kank4	T	C	4: 98,668,273 (GRCm39)	H58R	possibly damaging	Het
Kcnk4	T	A	19: 6,905,379 (GRCm39)	I154F	probably damaging	Het
Krt1c	T	C	15: 101,724,379 (GRCm39)	K295R	possibly damaging	Het
Lipm	A	T	19: 34,090,308 (GRCm39)	D163V	probably damaging	Het
Lpl	A	G	8: 69,340,215 (GRCm39)	N70S	probably damaging	Het
Mgme1	A	G	2: 144,114,451 (GRCm39)		probably benign	Het
Mnd1	T	A	3: 83,995,432 (GRCm39)	E187D	probably benign	Het
Morn5	A	G	2: 35,969,533 (GRCm39)	D149G	probably benign	Het
Mrrf	G	A	2: 36,037,965 (GRCm39)	V79I	probably damaging	Het
Msh4	T	A	3: 153,563,270 (GRCm39)	Q896L	probably benign	Het
Mtus2	A	C	5: 148,015,303 (GRCm39)	M699L	possibly damaging	Het
Mycbp	T	A	4: 123,803,880 (GRCm39)	C130S	unknown	Het
Ntn5	A	T	7: 45,333,899 (GRCm39)	Y4F	probably benign	Het
Or7e174	T	C	9: 20,012,580 (GRCm39)	V175A	probably benign	Het
Osm	A	G	11: 4,189,839 (GRCm39)	S208G	probably benign	Het
Pcsk6	T	A	7: 65,578,891 (GRCm39)	Y222N	possibly damaging	Het
Pde6a	A	G	18: 61,390,104 (GRCm39)	E486G	probably benign	Het
Pdzk1	T	A	3: 96,758,910 (GRCm39)	L105Q	possibly damaging	Het
Prkd1	C	G	12: 50,435,155 (GRCm39)	S524T	probably benign	Het
Prkd1	T	A	12: 50,435,156 (GRCm39)	S524C	probably damaging	Het
Rab4b	T	C	7: 26,874,148 (GRCm39)	I90V		Het
Rc3h1	T	C	1: 160,795,222 (GRCm39)	V1083A	probably benign	Het
Rfx7	C	T	9: 72,524,316 (GRCm39)	T502I	probably benign	Het
Rtn4rl2	T	C	2: 84,702,558 (GRCm39)	Y332C	probably damaging	Het
Senp2	A	G	16: 21,846,789 (GRCm39)	T265A	probably benign	Het
Slc38a3	T	C	9: 107,532,345 (GRCm39)	M396V	probably benign	Het
Sord	G	A	2: 122,094,607 (GRCm39)	V332I	probably benign	Het
Sprr1b	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA	3: 92,344,653 (GRCm39)		probably benign	Het
Star	G	A	8: 26,299,577 (GRCm39)	R53H	probably benign	Het
Stard4	T	G	18: 33,336,749 (GRCm39)	I189L	possibly damaging	Het
Stk38	G	T	17: 29,219,094 (GRCm39)	T7K	probably benign	Het
Stxbp5	T	A	10: 9,713,859 (GRCm39)	K227*	probably null	Het
Taf4b	C	T	18: 14,946,485 (GRCm39)	P436L	possibly damaging	Het
Tmem158	A	G	9: 123,089,309 (GRCm39)	F101S	probably damaging	Het
Trmt10b	T	C	4: 45,301,281 (GRCm39)	S77P	probably benign	Het
Ttn	A	T	2: 76,720,307 (GRCm39)	L6973*	probably null	Het
Tubal3	T	C	13: 3,983,293 (GRCm39)	F358L	probably damaging	Het
Tut4	T	C	4: 108,406,575 (GRCm39)	V1381A	possibly damaging	Het
Vmn1r214	C	T	13: 23,219,273 (GRCm39)	L256F	possibly damaging	Het
Vmn2r86	A	G	10: 130,282,396 (GRCm39)	V740A	probably benign	Het
Yipf1	A	T	4: 107,193,355 (GRCm39)	E80D	probably benign	Het
Zdhhc2	G	T	8: 40,898,846 (GRCm39)		probably null	Het
Zfp655	C	T	5: 145,181,290 (GRCm39)	H383Y	probably damaging	Het
Zfp981	C	T	4: 146,622,410 (GRCm39)	T445I	possibly 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
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
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'- ATCACGCTCAGCTCTCACAG -3'
(R):5'- TAGCACTTGCAATGAAGACTTCAAG -3'

Sequencing Primer
(F):5'- TCAGCTCTCACAGGGGAG -3'
(R):5'- ACCGAATGCAGATTCTTGAGTGC -3'

Posted On

2021-04-30