Mutagenetix > Incidental Mutations

Incidental Mutation 'R4523:Tgm7'

334292

Institutional Source

Beutler Lab

Gene Symbol

Tgm7

Ensembl Gene

ENSMUSG00000079103

Gene Name

transglutaminase 7

Synonyms

TGz

MMRRC Submission

042004-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121093565-121109795 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 121098588 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106303 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000110675

SMART Domains

Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103

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

Predicted Effect

probably null
Transcript: ENSMUST00000110675

SMART Domains

Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103

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

Predicted Effect

probably null
Transcript: ENSMUST00000110675

SMART Domains

Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103

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

0.9493

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,688,630	Q154*	probably null	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fam193a	G	A	5: 34,443,371	D601N	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Prr12	T	C	7: 45,048,523	D656G	unknown	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,350,699	V118E	probably damaging	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Slc5a4a	C	T	10: 76,148,362	A46V	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	probably damaging	Het

Other mutations in Tgm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Tgm7	APN	2	121106915	missense	probably benign	0.16
IGL01576:Tgm7	APN	2	121101033	missense	probably damaging	1.00
IGL01982:Tgm7	APN	2	121093625	nonsense	probably null
IGL02077:Tgm7	APN	2	121103835	missense	probably damaging	1.00
IGL02135:Tgm7	APN	2	121099038	missense	possibly damaging	0.75
R0063:Tgm7	UTSW	2	121094096	missense	probably benign	0.01
R0412:Tgm7	UTSW	2	121101065	missense	probably damaging	1.00
R1869:Tgm7	UTSW	2	121101089	missense	probably damaging	1.00
R2201:Tgm7	UTSW	2	121098581	missense	probably damaging	1.00
R2276:Tgm7	UTSW	2	121098564	missense	probably damaging	1.00
R2279:Tgm7	UTSW	2	121098564	missense	probably damaging	1.00
R2872:Tgm7	UTSW	2	121109693	start gained	probably benign
R2872:Tgm7	UTSW	2	121109693	start gained	probably benign
R4688:Tgm7	UTSW	2	121094021	missense	probably benign	0.06
R4757:Tgm7	UTSW	2	121096389	missense	possibly damaging	0.75
R4858:Tgm7	UTSW	2	121098964	critical splice donor site	probably null
R5132:Tgm7	UTSW	2	121104219	missense	probably damaging	1.00
R5141:Tgm7	UTSW	2	121100999	missense	probably benign	0.05
R5424:Tgm7	UTSW	2	121099041	missense	probably damaging	1.00
R5911:Tgm7	UTSW	2	121095973	missense	probably benign	0.27
R6166:Tgm7	UTSW	2	121099058	missense	probably damaging	1.00
R6364:Tgm7	UTSW	2	121096397	nonsense	probably null
R6636:Tgm7	UTSW	2	121101090	missense	probably damaging	1.00
R6637:Tgm7	UTSW	2	121101090	missense	probably damaging	1.00
R6950:Tgm7	UTSW	2	121093647	missense	probably damaging	1.00
R7094:Tgm7	UTSW	2	121099008	missense	probably damaging	1.00
R7536:Tgm7	UTSW	2	121096397	nonsense	probably null
R7729:Tgm7	UTSW	2	121093710	missense	probably benign
R7822:Tgm7	UTSW	2	121103940	missense	probably benign
R8213:Tgm7	UTSW	2	121101064	missense	probably damaging	0.99
R8511:Tgm7	UTSW	2	121093660	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTGCTAATTGCTTTCCCAATG -3'
(R):5'- ATCTCTGGGATGAGCAGTGAGC -3'

Sequencing Primer
(F):5'- GCTTTCCCAATGTAACTGGTG -3'
(R):5'- GCAGTGAGCATGTCCGTTC -3'

Posted On

2015-08-18