Mutagenetix > Incidental Mutations

Incidental Mutation 'R0412:Tgm7'

36700

Institutional Source

Beutler Lab

Gene Symbol

Tgm7

Ensembl Gene

ENSMUSG00000079103

Gene Name

transglutaminase 7

Synonyms

TGz

MMRRC Submission

038614-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0412 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

121093565-121109795 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121101065 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 206 (V206F)

Ref Sequence

ENSEMBL: ENSMUSP00000106303 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110675
AA Change: V206F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106303
Gene: ENSMUSG00000079103
AA Change: V206F

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

0.6212

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	G	7: 29,530,570		noncoding transcript	Het
Arap1	C	A	7: 101,390,222	A563D	probably damaging	Het
Arhgap28	G	A	17: 67,896,258	L67F	probably damaging	Het
Atp7b	G	T	8: 21,995,659		probably null	Het
Auts2	A	G	5: 131,446,831	F485L	probably benign	Het
Ccdc68	A	G	18: 69,960,439	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,313,457	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,530,608	S630Y	probably damaging	Het
Dntt	T	C	19: 41,042,933	L274P	probably damaging	Het
Fhl4	G	T	10: 85,098,816	H34N	possibly damaging	Het
Filip1	A	T	9: 79,820,289	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,765,026		noncoding transcript	Het
Gpr179	A	G	11: 97,338,807	S841P	probably damaging	Het
Gpr35	G	T	1: 92,982,784	V73L	probably benign	Het
Grik5	A	G	7: 25,013,674	V809A	possibly damaging	Het
H2-Bl	T	A	17: 36,081,521		probably benign	Het
Heatr5b	T	C	17: 78,820,854	T451A	probably benign	Het
Hmcn2	G	A	2: 31,388,247	V1654M	probably damaging	Het
Htra3	G	T	5: 35,671,065	A157E	probably damaging	Het
Igf2r	A	T	17: 12,683,948	V2405D	probably damaging	Het
Irs3	C	A	5: 137,643,877	R433L	probably benign	Het
Kcmf1	G	A	6: 72,848,241	Q239*	probably null	Het
Kcnk9	A	G	15: 72,513,056		probably benign	Het
Kif28	A	G	1: 179,702,526	V622A	probably benign	Het
Klrb1f	A	T	6: 129,054,331	I164F	probably benign	Het
Lama2	A	G	10: 27,190,625	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,235,747		probably benign	Het
Mcidas	A	G	13: 112,999,143	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,674,413	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,235,216	Q360H	probably benign	Het
Mst1	A	C	9: 108,083,594	D461A	probably benign	Het
Nckap1l	A	T	15: 103,464,652	S311C	probably benign	Het
Olfr1036	C	T	2: 86,075,091	A117V	probably benign	Het
Olfr1233	T	A	2: 89,340,078	M75L	probably benign	Het
Olfr1385	T	A	11: 49,494,767	V78E	probably damaging	Het
Olfr251	A	C	9: 38,378,794	K298N	probably damaging	Het
Pde3a	T	G	6: 141,498,684	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,117,788	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,315,861	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,642,214	I228T	probably damaging	Het
Pram1	A	G	17: 33,641,506	N349S	probably benign	Het
Ranbp6	C	T	19: 29,812,083	V290I	possibly damaging	Het
Rcan3	A	T	4: 135,416,603		probably null	Het
Scn8a	G	C	15: 101,008,306		probably benign	Het
Slc12a5	C	T	2: 164,994,062	T900M	probably benign	Het
Srsf10	A	G	4: 135,858,403	Y55C	probably damaging	Het
Syt7	G	T	19: 10,444,080	E450*	probably null	Het
Tbrg4	T	C	11: 6,623,832	K130R	probably benign	Het
Tmem131l	T	C	3: 84,031,648	D67G	probably damaging	Het
Ttc7	A	G	17: 87,330,044	K409R	probably benign	Het
Unc80	A	T	1: 66,550,937		probably benign	Het
Vmn1r171	C	T	7: 23,632,655	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 42,046,492		probably benign	Het
Vsig2	A	G	9: 37,542,690	R191G	probably damaging	Het
Wdr86	T	A	5: 24,718,234	Q153H	probably benign	Het
Xxylt1	T	A	16: 31,007,798	N233I	probably damaging	Het
Zfp160	A	T	17: 21,026,877	E563V	probably damaging	Het
Zfp345	T	A	2: 150,473,403	E71D	probably benign	Het
Zfp541	A	G	7: 16,082,174	D862G	possibly damaging	Het
Zfp639	A	C	3: 32,517,110	Q47P	possibly 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
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
R4523:Tgm7	UTSW	2	121098588	critical splice acceptor site	probably null
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'- TGTTCACATGTCCCAAGAGTGCAG -3'
(R):5'- GGCAGGAACTTCTCTTCGTCCC -3'

Sequencing Primer
(F):5'- TGCAGGACGATATTCCAATGC -3'
(R):5'- GTCCCACCCTTTGGGAATAAAAC -3'

Posted On

2013-05-09