Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01547:Tgm5'

90375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tgm5

Ensembl Gene

ENSMUSG00000053675

Gene Name

transglutaminase 5

Synonyms

2310007C07Rik, TGx

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

121046111-121085841 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 121049202 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028721]

Predicted Effect

probably benign
Transcript: ENSMUST00000028721

SMART Domains

Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	11	127	1.4e-31	PFAM
TGc	275	368	1.86e-49	SMART
Pfam:Transglut_C	511	610	2.5e-23	PFAM
Pfam:Transglut_C	624	722	1.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119778

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,455,262	G243R	possibly damaging	Het
Afg3l1	T	C	8: 123,501,351	V625A	probably benign	Het
Arhgap39	T	C	15: 76,737,815		probably benign	Het
Bag1	A	G	4: 40,936,661	C332R	probably damaging	Het
Bcas2	T	C	3: 103,171,999	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,632,035		probably benign	Het
Cdyl	A	G	13: 35,790,162	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,883,617	I1322V	probably benign	Het
Evc2	C	A	5: 37,393,087	A815E	probably benign	Het
Gm6309	C	T	5: 146,168,411	D231N	probably benign	Het
Mtfr2	C	T	10: 20,357,599	P305S	probably damaging	Het
Olfr301	A	G	7: 86,412,871	N170D	possibly damaging	Het
Olfr639	A	T	7: 104,012,660	I14N	probably benign	Het
Olfr77	A	T	9: 19,920,901	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,267,342	H782R	probably benign	Het
Polr2a	A	G	11: 69,744,942	S480P	probably damaging	Het
Scaf11	T	C	15: 96,418,429	T1085A	probably benign	Het
Sema6c	C	T	3: 95,172,398	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,847,458	T106I	probably damaging	Het
Vmn2r23	T	A	6: 123,704,424	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,538,104	K644N	probably damaging	Het
Zfp608	A	G	18: 54,894,449		probably null	Het

Other mutations in Tgm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Tgm5	APN	2	121071496	missense	probably benign	0.01
IGL01148:Tgm5	APN	2	121046675	splice site	probably null
IGL01284:Tgm5	APN	2	121052547	missense	possibly damaging	0.94
IGL01370:Tgm5	APN	2	121053537	missense	probably benign	0.03
IGL01545:Tgm5	APN	2	121052808	missense	probably damaging	1.00
IGL01998:Tgm5	APN	2	121052439	missense	probably damaging	1.00
IGL02577:Tgm5	APN	2	121077603	missense	probably benign	0.01
IGL02636:Tgm5	APN	2	121076796	missense	probably damaging	0.99
PIT4283001:Tgm5	UTSW	2	121071585	missense	possibly damaging	0.48
R0001:Tgm5	UTSW	2	121077646	missense	probably damaging	1.00
R0013:Tgm5	UTSW	2	121076882	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	121077012	missense	probably damaging	1.00
R0105:Tgm5	UTSW	2	121077012	missense	probably damaging	1.00
R0117:Tgm5	UTSW	2	121075102	critical splice donor site	probably null
R0145:Tgm5	UTSW	2	121077581	missense	possibly damaging	0.93
R0356:Tgm5	UTSW	2	121053574	missense	probably damaging	1.00
R0410:Tgm5	UTSW	2	121077558	missense	possibly damaging	0.46
R0519:Tgm5	UTSW	2	121048895	missense	probably damaging	1.00
R1674:Tgm5	UTSW	2	121071544	missense	possibly damaging	0.60
R1773:Tgm5	UTSW	2	121077650	missense	possibly damaging	0.67
R1864:Tgm5	UTSW	2	121075218	missense	probably damaging	1.00
R2276:Tgm5	UTSW	2	121048823	splice site	probably benign
R2511:Tgm5	UTSW	2	121076948	missense	possibly damaging	0.62
R4180:Tgm5	UTSW	2	121076961	missense	probably benign	0.13
R4230:Tgm5	UTSW	2	121070735	missense	probably damaging	1.00
R4801:Tgm5	UTSW	2	121052472	missense	probably damaging	1.00
R4802:Tgm5	UTSW	2	121052472	missense	probably damaging	1.00
R5840:Tgm5	UTSW	2	121085660	critical splice donor site	probably null
R6033:Tgm5	UTSW	2	121070729	splice site	probably null
R6033:Tgm5	UTSW	2	121070729	splice site	probably null
R7064:Tgm5	UTSW	2	121053514	missense	probably benign	0.04
R7102:Tgm5	UTSW	2	121046498	missense	possibly damaging	0.89
R7114:Tgm5	UTSW	2	121048496	nonsense	probably null
R7178:Tgm5	UTSW	2	121085768	start gained	probably benign
R7748:Tgm5	UTSW	2	121052808	missense	probably damaging	1.00
R7969:Tgm5	UTSW	2	121075169	missense	probably damaging	1.00
R8428:Tgm5	UTSW	2	121048875	missense	probably benign
RF022:Tgm5	UTSW	2	121071611	missense	probably damaging	1.00
V3553:Tgm5	UTSW	2	121071502	missense	probably damaging	1.00
X0065:Tgm5	UTSW	2	121070839	missense	probably damaging	1.00
Z1177:Tgm5	UTSW	2	121052451	missense	probably damaging	1.00

Posted On

2013-12-03