Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Tgm3'

323298

Institutional Source

Beutler Lab

Gene Symbol

Tgm3

Ensembl Gene

ENSMUSG00000027401

Gene Name

transglutaminase 3, E polypeptide

Synonyms

we, TG E

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129854269-129892319 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 129880333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 380 (V380L)

Ref Sequence

ENSEMBL: ENSMUSP00000105928 (fasta)

Gene Model

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

AlphaFold

Q08189

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110299
AA Change: V380L

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: V380L

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: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tiam2	A	T	17: 3,501,120 (GRCm39)	M920L	probably benign	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	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
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

Predicted Primers

PCR Primer
(F):5'- GGTATCTGCTCTGTGCTAGACC -3'
(R):5'- ACATCCATGCGAGAGTTGC -3'

Sequencing Primer
(F):5'- ATCTGCTCTGTGCTAGACCAATGG -3'
(R):5'- ATGCGAGAGTTGCTGCCTAC -3'

Posted On

2015-06-20