Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Tgm7'

490130

Institutional Source

Beutler Lab

Gene Symbol

Tgm7

Ensembl Gene

ENSMUSG00000079103

Gene Name

transglutaminase 7

Synonyms

TGz

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120924046-120946877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120929539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

Ref Sequence

ENSEMBL: ENSMUSP00000106303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110675]

AlphaFold

A2ART8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110675
AA Change: V245A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: V245A

Domain	Start	End	E-Value	Type
TGc	177	270	2.54e-42	SMART
SCOP:d1kv3a2	395	512	1e-33	SMART
Pfam:Transglut_C	514	612	1.7e-20	PFAM

Meta Mutation Damage Score

0.4680

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Src	A	G	2: 157,310,442 (GRCm39)	Y359C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	probably damaging	Het

Other mutations in Tgm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Tgm7	APN	2	120,937,396 (GRCm39)	missense	probably benign	0.16
IGL01576:Tgm7	APN	2	120,931,514 (GRCm39)	missense	probably damaging	1.00
IGL01982:Tgm7	APN	2	120,924,106 (GRCm39)	nonsense	probably null
IGL02077:Tgm7	APN	2	120,934,316 (GRCm39)	missense	probably damaging	1.00
IGL02135:Tgm7	APN	2	120,929,519 (GRCm39)	missense	possibly damaging	0.75
R0063:Tgm7	UTSW	2	120,924,577 (GRCm39)	missense	probably benign	0.01
R0412:Tgm7	UTSW	2	120,931,546 (GRCm39)	missense	probably damaging	1.00
R1869:Tgm7	UTSW	2	120,931,570 (GRCm39)	missense	probably damaging	1.00
R2201:Tgm7	UTSW	2	120,929,062 (GRCm39)	missense	probably damaging	1.00
R2276:Tgm7	UTSW	2	120,929,045 (GRCm39)	missense	probably damaging	1.00
R2279:Tgm7	UTSW	2	120,929,045 (GRCm39)	missense	probably damaging	1.00
R2872:Tgm7	UTSW	2	120,940,174 (GRCm39)	start gained	probably benign
R2872:Tgm7	UTSW	2	120,940,174 (GRCm39)	start gained	probably benign
R4523:Tgm7	UTSW	2	120,929,069 (GRCm39)	critical splice acceptor site	probably null
R4688:Tgm7	UTSW	2	120,924,502 (GRCm39)	missense	probably benign	0.06
R4757:Tgm7	UTSW	2	120,926,870 (GRCm39)	missense	possibly damaging	0.75
R4858:Tgm7	UTSW	2	120,929,445 (GRCm39)	critical splice donor site	probably null
R5132:Tgm7	UTSW	2	120,934,700 (GRCm39)	missense	probably damaging	1.00
R5141:Tgm7	UTSW	2	120,931,480 (GRCm39)	missense	probably benign	0.05
R5424:Tgm7	UTSW	2	120,929,522 (GRCm39)	missense	probably damaging	1.00
R5911:Tgm7	UTSW	2	120,926,454 (GRCm39)	missense	probably benign	0.27
R6364:Tgm7	UTSW	2	120,926,878 (GRCm39)	nonsense	probably null
R6636:Tgm7	UTSW	2	120,931,571 (GRCm39)	missense	probably damaging	1.00
R6637:Tgm7	UTSW	2	120,931,571 (GRCm39)	missense	probably damaging	1.00
R6950:Tgm7	UTSW	2	120,924,128 (GRCm39)	missense	probably damaging	1.00
R7094:Tgm7	UTSW	2	120,929,489 (GRCm39)	missense	probably damaging	1.00
R7536:Tgm7	UTSW	2	120,926,878 (GRCm39)	nonsense	probably null
R7729:Tgm7	UTSW	2	120,924,191 (GRCm39)	missense	probably benign
R7822:Tgm7	UTSW	2	120,934,421 (GRCm39)	missense	probably benign
R8213:Tgm7	UTSW	2	120,931,545 (GRCm39)	missense	probably damaging	0.99
R8511:Tgm7	UTSW	2	120,924,141 (GRCm39)	missense	probably damaging	0.99
R9182:Tgm7	UTSW	2	120,926,980 (GRCm39)	missense	probably benign
R9490:Tgm7	UTSW	2	120,928,867 (GRCm39)	missense	probably damaging	0.99
R9573:Tgm7	UTSW	2	120,934,606 (GRCm39)	missense	probably benign
R9656:Tgm7	UTSW	2	120,940,191 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTATAACCCTGGGAAGTGAGG -3'
(R):5'- CTCCTTTGCTGATGGTGACG -3'

Sequencing Primer
(F):5'- AGTGGGAAATGGCCGTACCC -3'
(R):5'- GAGACAAGGTTTCTCTATGCAGTCC -3'

Posted On

2017-10-10